Publications

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome

Stefano Paolacci, Yun Li, Emanuele Agolini, Emanuele Bellacchio, Carlos E Arboleda-Bustos, Dido Carrero, Debora Bertola, Lihadh Al-Gazali, Mariel Alders, Janine Altmüller, Gonzalo Arboleda, Filippo Beleggia, Alessandro Bruselles, Andrea Ciolfi, Gabriele Gillessen-Kaesbach, Thomas Krieg, Shehla Mohammed, Christian Müller, Antonio Novelli, Jenny Ortega, Adrian Sandoval, Gloria Velasco, Gökhan Yigit, Humberto Arboleda, Carlos Lopez-Otin, Bernd Wollnik, Marco Tartaglia, Raoul C Hennekam. https://jmg.bmj.com/content/early/2018/10/15/jmedgenet-2018-105528

 

Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel.

Sturm AC, Knowles JW, Gidding SS, Ahmad ZS, Ahmed CD, Ballantyne CM, Baum SJ, Bourbon M, Carrié A, Cuchel M, de Ferranti SD, Defesche JC, Freiberger T, Hershberger RE, Hovingh GK, Karayan L, Kastelein JJP, Kindt I, Lane SR, Leigh SE, Linton MF, Mata P, Neal WA, Nordestgaard BG, Santos RD, Harada-Shiba M, Sijbrands EJ, Stitziel NO, Yamashita S, Wilemon KA, Ledbetter DH, Rader DJ; Convened by the Familial Hypercholesterolemia Foundation. J Am Coll Cardiol. 2018 Aug 7;72(6):662-680.

 

Alirocumab efficacy in patients with double heterozygous, compound heterozygous, or homozygous familial hypercholesterolemia. Hartgers ML, Defesche JC, Langslet G, Hopkins PN, Kastelein JJP, Baccara-Dinet MT, Seiz W, Hamon S, Banerjee P, Stefanutti C. J Clin Lipidol. 2018 Mar – Apr;12(2):390-396.

 

DNA-diagnostiek bij dementie. / Aalfs, C. M.; Vervenne-van Spaendonk, R.; Pijnenburg, Y. A. L.; Cohn-Hokke, P. E.; Meijers, H. J.; Scheltens, P.

In: Nederlands tijdschrift voor geneeskunde, Vol. 161, 2017, p. D1774.

Research output: Professional › Article

 

Expertise van klinisch geneticus beter benutten. / Aalfs, C. M.; Westermann, A. M.; van El, C. G.

In: Nederlands tijdschrift voor geneeskunde, Vol. 161, 2017, p. D1525.

Research output: Professional › Article

 

Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report. / Adadi, N.; Lahrouchi, N.; Bouhouch, R.; Fellat, I.; Amri, R.; Alders, M.; Sefiani, A.; Bezzina, C.; Ratbi, I.

In: Journal of medical case reports, Vol. 11, No. 1, 2017, p. 88.

Research output: Scientific – peer-review › Article

 

Variations in hypertension awareness, treatment, and control among Ghanaian migrants living in Amsterdam, Berlin, London, and nonmigrant Ghanaians living in rural and urban Ghana – the RODAM study. / Agyemang, Charles; Nyaaba, Gertrude; Beune, Erik; Meeks, Karlijn; Owusu-Dabo, Ellis; Addo, Juliet; Aikins, Ama de-Graft; Mockenhaupt, Frank P.; Bahendeka, Silver; Danquah, Ina; Schulze, Matthias B.; Galbete, Cecilia; Spranger, Joachim; Agyei-Baffour, Peter; Henneman, Peter; Klipstein-Grobusch, Kerstin; Adeyemo, Adebowale; van Straalen, Jan; Commodore-Mensah, Yvonne; Appiah, Lambert T.; Smeeth, Liam; Stronks, Karien.

In: Journal of hypertension, Vol. 36, No. 1, 2018, p. 169-177.

 

In Situ complement activation and T-cell immunity in leprosy spectrum: An immunohistological study on leprosy lesional skin. / Bahia El Idrissi, Nawal; Iyer, Anand M.; Ramaglia, Valeria; Rosa, Patricia S.; Soares, Cleverson T.; Baas, Frank; Das, Pranab K.

In: PLoS ONE, Vol. 12, No. 5, 2017, p. e0177815.

 

Comparative gene expression study and pathway analysis of the human iris- and the retinal pigment epithelium. / Bennis, Anna; ten Brink, Jacoline B.; Moerland, Perry D.; Heine, Vivi M.; Bergen, Arthur A.

In: PLoS ONE, Vol. 12, No. 8, 2017, p. e0182983.

 

Stem Cell Derived Retinal Pigment Epithelium: The Role of Pigmentation as Maturation Marker and Gene Expression Profile Comparison with Human Endogenous Retinal Pigment Epithelium. / Bennis, A.; Jacobs, J. G.; Catsburg, L. A. E.; ten Brink, J. B.; Koster, C.; Schlingemann, R. O.; van Meurs, J.; Gorgels, T. G. M. F.; Moerland, P. D.; Heine, V. M.; Bergen, A. A.

In: STEM CELL REVIEWS AND REPORTS, Vol. 13, No. 5, 2017, p. 659-669.

 

Nicotinamide, iRPE-in-a dish, and age-related macular degeneration therapy development. / Bergen, Arthur A.

In: Stem cell investigation, Vol. 4, 2017, p. 81.

 

Swarm Intelligence-Enhanced Detection of Non-Small-Cell Lung Cancer Using Tumor-Educated Platelets. / Best, Myron G.; Sol, Nik; In ‘t Veld, Sjors G. J. G.; Vancura, Adrienne; Muller, Mirte; Niemeijer, Anna-Larissa N.; Fejes, Aniko V.; Tjon Kon Fat, Lee-Ann; Huis In ‘t Veld, Anna E.; Leurs, Cyra; Le Large, Tessa Y.; Meijer, Laura L.; Kooi, Irsan E.; Rustenburg, François; Schellen, Pepijn; Verschueren, Heleen; Post, Edward; Wedekind, Laurine E.; Bracht, Jillian; Esenkbrink, Michelle; Wils, Leon; Favaro, Francesca; Schoonhoven, Jilian D.; Tannous, Jihane; Meijers-Heijboer, Hanne; Kazemier, Geert; Giovannetti, Elisa; Reijneveld, Jaap C.; Idema, Sander; Killestein, Joep; Heger, Michal; de Jager, Saskia C.; Urbanus, Rolf T.; Hoefer, Imo E.; Pasterkamp, Gerard; Mannhalter, Christine; Gomez-Arroyo, Jose; Bogaard, Harm-Jan; Noske, David P.; Vandertop, W. Peter; van den Broek, Daan; Ylstra, Bauke; Nilsson, R. Jonas A.; Wesseling, Pieter; Karachaliou, Niki; Rosell, Rafael; Lee-Lewandrowski, Elizabeth; Lewandrowski, Kent B.; Tannous, Bakhos A.; de Langen, Adrianus J.; Smit, Egbert F.; van den Heuvel, Michel M.; Wurdinger, Thomas.

In: Cancer cell, Vol. 32, No. 2, 2017, p. 238-252.e9.

 

Cardiac phenotype and long-term prognosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia patients with late presentation. / Bhonsale, Aditya; te Riele, Anneline S. J. M.; Sawant, Abhishek C.; Groeneweg, Judith A.; James, Cynthia A.; Murray, Brittney; Tichnell, Crystal; Mast, Thomas P.; van der Pols, Michelle J.; Cramer, Maarten J. M.; Dooijes, Dennis; van der Heijden, Jeroen F.; Tandri, Harikrishna; van Tintelen, J. Peter; Judge, Daniel P.; Hauer, Richard N. W.; Calkins, Hugh.

In: Heart rhythm, Vol. 14, No. 6, 2017, p. 883-891.

 

Myofilament Remodeling and Function Is More Impaired in Peripartum Cardiomyopathy Compared with Dilated Cardiomyopathy and Ischemic Heart Disease. / Bollen, Ilse A. E.; Ehler, Elisabeth; Fleischanderl, Karin; Bouwman, Floor; Kempers, Lanette; Ricke-Hoch, Melanie; Hilfiker-Kleiner, Denise; dos Remedios, Cristobal G.; Krüger, Martina; Vink, Aryan; Asselbergs, Folkert W.; van Spaendonck-Zwarts, Karin Y.; Pinto, Yigal M.; Kuster, Diederik W. D.; van der Velden, Jolanda.

In: American journal of pathology, Vol. 187, No. 12, 2017, p. 2645-2658.

 

Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum. / Bouman, Arjan; Alders, Mariëlle; Oostra, Roelof Jan; van Leeuwen, Elisabeth; Thuijs, Nikki; van der Kevie-Kersemaekers, Anne-Marie; van Maarle, Merel.

In: American journal of medical genetics. Part A, Vol. 173, No. 5, 2017, p. 1383-1389.

 

Bloom syndrome does not always present with sun-sensitive facial erythema. / Bouman, Arjan; van Koningsbruggen, Silvana; Karakullukcu, M. Bariş; Schreuder, Willem Hans; Lakeman, Phillis.

In: European journal of medical genetics, 2017.

 

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. / Brioude, Frédéric; Kalish, Jennifer M.; Mussa, Alessandro; Foster, Alison C.; Bliek, Jet; Ferrero, Giovanni Battista; Boonen, Susanne E.; Cole, Trevor; Baker, Robert; Bertoletti, Monica; Cocchi, Guido; Coze, Carole; de Pellegrin, Maurizio; Hussain, Khalid; Ibrahim, Abdulla; Kilby, Mark D.; Krajewska-Walasek, Malgorzata; Kratz, Christian P.; Ladusans, Edmund J.; Lapunzina, Pablo; Le Bouc, Yves; Maas, Saskia M.; Macdonald, Fiona; Õunap, Katrin; Peruzzi, Licia; Rossignol, Sylvie; Russo, Silvia; Shipster, Caroleen; Skórka, Agata; Tatton-Brown, Katrina; Tenorio, Jair; Tortora, Chiara; Grønskov, Karen; Netchine, Irène; Hennekam, Raoul C.; Prawitt, Dirk; Tümer, Zeynep; Eggermann, Thomas; Mackay, Deborah J. G.; Riccio, Andrea; Maher, Eamonn R.

In: Nature reviews. Endocrinology, 2018.

 

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome. / Chatzispyrou, Iliana A.; Alders, Marielle; Guerrero-Castillo, Sergio; Zapata Perez, Ruben; Haagmans, Martin A.; Mouchiroud, Laurent; Koster, Janet; Ofman, Rob; Baas, Frank; Waterham, Hans R.; Spelbrink, Johannes N.; Auwerx, Johan; Mannens, Marcel M.; Houtkooper, Riekelt H.; Plomp, Astrid S.

In: Human molecular genetics, Vol. 26, No. 13, 2017, p. 2541-2550.

Research output: Scientific – peer-review › Article

 

Prevalence of Age-Related Macular Degeneration in Europe. / Colijn, Johanna M.; Buitendijk, Gabriëlle H. S.; Prokofyeva, Elena; Alves, Dalila; Cachulo, Maria L.; Khawaja, Anthony P.; Cougnard-Gregoire, Audrey; Merle, Bénédicte M. J.; Korb, Christina; Erke, Maja G.; Bron, Alain; Anastasopoulos, Eleftherios; Meester-Smoor, Magda A.; Segato, Tatiana; Piermarocchi, Stefano; de Jong, Paulus T. V. M.; Vingerling, Johannes R.; Topouzis, Fotis; Creuzot-Garcher, Catherine; Bertelsen, Geir; Pfeiffer, Norbert; Fletcher, Astrid E.; Foster, Paul J.; Silva, Rufino; Korobelnik, Jean-François; Delcourt, Cécile; Klaver, Caroline C. W.; AUTHOR GROUP.

In: Ophthalmology, Vol. 124, No. 12, 2017, p. 1753-1763.

 

Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia. / Defesche, Joep C.; Stefanutti, Claudia; Langslet, Gisle; Hopkins, Paul N.; Seiz, Werner; Baccara-Dinet, Marie T.; Hamon, Sara C.; Banerjee, Poulabi; Kastelein, John J. P.

In: Journal of clinical lipidology, Vol. 11, No. 6, 2017, p. 1338-1346.

 

Familial hypercholesterolaemia. / Defesche, Joep C.; Gidding, Samuel S.; Harada-Shiba, Mariko; Hegele, Robert A.; Santos, Raul D.; Wierzbicki, Anthony S.

In: Nature reviews. Disease primers, Vol. 3, 2017, p. 17093.

 

Successful Growth Hormone Therapy in Cornelia de Lange Syndrome. / de Graaf, Michael; Kant, Sarina G.; Wit, Jan Maarten; Redeker, Egbert Johan Willem; Santen, Gijs Willem Eduard; Verkerk, Annemieke Johanna Maria Henrietta; Uitterlinden, André Gerardus; Losekoot, Monique; Oostdijk, Wilma.

In: Journal of clinical research in pediatric endocrinology, Vol. 9, No. 4, 2017, p. 366-370.

 

Estimates of live birth prevalence of children with Down syndrome in the period 1991-2015 in the Netherlands. / de Graaf, G.; Engelen, J. J. M.; Gijsbers, A. C. J.; Hochstenbach, R.; Hoffer, M. J. V.; Kooper, A. J. A.; Sikkema-Raddatz, B.; Srebniak, M. I.; van der Kevie-Kersemaekers, A. M. F.; van Zutven, L. J. C. M.; Voorhoeve, E.

In: Journal of intellectual disability research, Vol. 61, No. 5, 2017, p. 461-470.

 

Polyhydramnios in isolated oral cleft pregnancies: incidence and outcome in a retrospective study. / Depla, Anne L.; Breugem, Corstiaan C.; van der Horst, Chantal M. A. M.; de Heus, Roel; van den Boogaard, Marie-José H.; Maas, Saskia M.; Pajkrt, Eva; Bekker, Mireille N.

In: Prenatal diagnosis, Vol. 37, No. 2, 2017, p. 162-167.

 

Colorectal Cancer Risk in Patients With Lynch Syndrome and Inflammatory Bowel Disease. / Derikx, Lauranne A. A. P.; Smits, Lisa J. T.; van Vliet, Shannon; Dekker, Evelien; Aalfs, Cora M.; van Kouwen, Mariëtte C. A.; Nagengast, Fokko M.; Nagtegaal, Iris D.; Hoogerbrugge, Nicoline; Hoentjen, Frank.

In: Clinical gastroenterology and hepatology, Vol. 15, No. 3, 2017, p. 454-458.e1.

 

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands. / Dommering, Charlotte J.; Henneman, Lidewij; van der Hout, Annemarie H.; Jonker, Marianne A.; Tops, Carli M. J.; van den Ouweland, Ans M. W.; van der Luijt, Rob B.; Mensenkamp, Arjen R.; Hogervorst, Frans B. L.; Redeker, Egbert J. W.; de Die-Smulders, Christine E. M.; Moll, Annette C.; Meijers-Heijboer, Hanne.

In: Familial cancer, Vol. 16, No. 2, 2017, p. 271-277.

 

An E-Learning Module to Improve Nongenetic Health Professionals’ Assessment of Colorectal Cancer Genetic Risk: Feasibility Study. / Douma, Kirsten Freya Lea; Aalfs, Cora M.; Dekker, Evelien; Tanis, Pieter J.; Smets, Ellen M.

In: JMIR medical education, Vol. 3, No. 2, 2017, p. e24.

 

Familial co-occurrence of congenital heart defects follows distinct patterns. / Ellesøe, Sabrina G.; Workman, Christopher T.; Bouvagnet, Patrice; Loffredo, Christopher A.; McBride, Kim L.; Hinton, Robert B.; van Engelen, Klaartje; Gertsen, Emma C.; Mulder, Barbara J. M.; Postma, Alex V.; Anderson, Robert H.; Hjortdal, Vibeke E.; Brunak, Søren; Larsen, Lars A.

In: European heart journal, 2017.

 

Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype? / Fleger, M.; Willomitzer, J.; Meinsma, R.; Alders, M.; Meijer, J.; Hennekam, R. C. M.; Huemer, M.; van Kuilenburg, A. B. P.

In: JIMD reports, Vol. 37, 2017, p. 49-54.

 

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. / Fountain, Michael D.; Aten, Emmelien; Cho, Megan T.; Juusola, Jane; Walkiewicz, Magdalena A.; Ray, Joseph W.; Xia, Fan; Yang, Yaping; Graham, Brett H.; Bacino, Carlos A.; Potocki, Lorraine; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Mancias, Pedro; Northrup, Hope; Kukolich, Mary K.; Weiss, Marjan M.; van Ravenswaaij-Arts, Conny M. A.; Mathijssen, Inge B.; Levesque, Sebastien; Meeks, Naomi; Rosenfeld, Jill A.; Lemke, Danielle; Hamosh, Ada; Lewis, Suzanne K.; Race, Simone; Stewart, Laura L.; Hay, Beverly; Lewis, Andrea M.; Guerreiro, Rita L.; Bras, Jose T.; Martins, Marcia P.; Derksen-Lubsen, Gerarda; Peeters, Els; Stumpel, Connie; Stegmann, Sander; Bok, Levinus A.; Santen, Gijs W. E.; Schaaf, Christian P.

In: Genetics in medicine, Vol. 19, No. 1, 2017, p. 45-52.

 

Diagnostic exome sequencing in 266 Dutch patients with visual impairment. / Haer-Wigman, Lonneke; van Zelst-Stams, Wendy Ag; Pfundt, Rolph; van den Born, L. Ingeborgh; Klaver, Caroline Cw; Verheij, Joke Bgm; Hoyng, Carel B.; Breuning, Martijn H.; Boon, Camiel Jf; Kievit, Anneke J.; Verhoeven, Virginie Jm; Pott, Jan Wr; Sallevelt, Suzanne Ceh; van Hagen, Johanna M.; Plomp, Astrid S.; Kroes, Hester Y.; Lelieveld, Stefan H.; Hehir-Kwa, Jayne Y.; Castelein, Steven; Nelen, Marcel; Scheffer, Hans; Lugtenberg, Dorien; Cremers, Frans Pm; Hoefsloot, Lies; Yntema, Helger G.

In: European journal of human genetics, Vol. 25, No. 5, 2017, p. 591-599.

 

LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P. / Hakonen, Johanna E.; Sorrentino, Vincenzo; Avagliano Trezza, Rossella; de Wissel, Marit B.; van den Berg, Marlene; Bleijlevens, Boris; van Ruissen, Fred; Distel, Ben; Baas, Frank; Zelcer, Noam; Weterman, Marian A. J.

In: Human molecular genetics, Vol. 26, No. 11, 2017, p. 2034-2041.

 

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. / Hamdi, Yosr; Soucy, Penny; Kuchenbaeker, Karoline B.; Pastinen, Tomi; Droit, Arnaud; Lemaçon, Audrey; Adlard, Julian; Aittomäki, Kristiina; Andrulis, Irene L.; Arason, Adalgeir; Arnold, Norbert; Arun, Banu K.; Azzollini, Jacopo; Bane, Anita; Barjhoux, Laure; Barrowdale, Daniel; Benitez, Javier; Berthet, Pascaline; Blok, Marinus J.; Bobolis, Kristie; Bonadona, Valérie; Bonanni, Bernardo; Bradbury, Angela R.; Brewer, Carole; Buecher, Bruno; Buys, Saundra S.; Caligo, Maria A.; Chiquette, Jocelyne; Chung, Wendy K.; Claes, Kathleen B. M.; Daly, Mary B.; Damiola, Francesca; Davidson, Rosemarie; de la Hoya, Miguel; de Leeneer, Kim; Diez, Orland; Ding, Yuan Chun; Dolcetti, Riccardo; Domchek, Susan M.; Dorfling, Cecilia M.; Eccles, Diana; Eeles, Ros; Einbeigi, Zakaria; Ejlertsen, Bent; Engel, Christoph; Gareth Evans, D.; Feliubadalo, Lidia; Foretova, Lenka; Fostira, Florentia; Foulkes, William D.; Fountzilas, George; Friedman, Eitan; Frost, Debra; Ganschow, Pamela; Ganz, Patricia A.; Garber, Judy; Gayther, Simon A.; Gerdes, Anne-Marie; Glendon, Gord; Godwin, Andrew K.; Goldgar, David E.; Greene, Mark H.; Gronwald, Jacek; Hahnen, Eric; Hamann, Ute; Hansen, Thomas V. O.; Hart, Steven; Hays, John L.; Hogervorst, Frans B. L.; Hulick, Peter J.; Imyanitov, Evgeny N.; Isaacs, Claudine; Izatt, Louise; Jakubowska, Anna; James, Paul; Janavicius, Ramunas; Jensen, Uffe Birk; John, Esther M.; Joseph, Vijai; Just, Walter; Kaczmarek, Katarzyna; Karlan, Beth Y.; Kets, Carolien M.; Kirk, Judy; Kriege, Mieke; Laitman, Yael; Laurent, Maïté; Lazaro, Conxi; Leslie, Goska; Lester, Jenny; Lesueur, Fabienne; Liljegren, Annelie; Loman, Niklas; Loud, Jennifer T.; Manoukian, Siranoush; Mariani, Milena; Mazoyer, Sylvie; McGuffog, Lesley; Meijers-Heijboer, Hanne E. J.; Meindl, Alfons; Miller, Austin; Montagna, Marco; Mulligan, Anna Marie; Nathanson, Katherine L.; Neuhausen, Susan L.; Nevanlinna, Heli; Nussbaum, Robert L.; Olah, Edith; Olopade, Olufunmilayo I.; Ong, Kai-Ren; Oosterwijk, Jan C.; Osorio, Ana; Papi, Laura; Park, Sue Kyung; Pedersen, Inge Sokilde; Peissel, Bernard; Segura, Pedro Perez; Peterlongo, Paolo; Phelan, Catherine M.; Radice, Paolo; Rantala, Johanna; Rappaport-Fuerhauser, Christine; Rennert, Gad; Richardson, Andrea; Robson, Mark; Rodriguez, Gustavo C.; Rookus, Matti A.; Schmutzler, Rita Katharina; Sevenet, Nicolas; Shah, Payal D.; Singer, Christian F.; Slavin, Thomas P.; Snape, Katie; Sokolowska, Johanna; Sønderstrup, Ida Marie Heeholm; Southey, Melissa; Spurdle, Amanda B.; Stadler, Zsofia; Stoppa-Lyonnet, Dominique; Sukiennicki, Grzegorz; Sutter, Christian; Tan, Yen; tea, Muy-Kheng; Teixeira, Manuel R.; Teulé, Alex; teo, Soo-Hwang; Terry, Mary Beth; Thomassen, Mads; Tihomirova, Laima; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda Ewart; Tung, Nadine; van den Ouweland, Ans M. W.; van der Luijt, Rob B.; van Engelen, Klaartje; van Rensburg, Elizabeth J.; Varon-Mateeva, Raymonda; Wappenschmidt, Barbara; Wijnen, Juul T.; Rebbeck, Timothy; Chenevix-Trench, Georgia; Offit, Kenneth; Couch, Fergus J.; Nord, Silje; Easton, Douglas F.; Antoniou, Antonis C.; Simard, Jacques.

In: Breast cancer research and treatment, Vol. 161, No. 1, 2017, p. 117-134.

 

Generation and characterization of human iPSC line MML-6838-Cl2 from mobilized peripheral blood derived megakaryoblasts. / Hansen, Marten; Varga, Eszter; Wüst, Tatjana; Brouwer, Nelleke; Beauchemin, Hugues; Mellink, Clemens; van der Kevie-Kersemaekers, Anne-Marie; Möröy, Tarik; van der Reijden, Bert; von Lindern, Marieke; van den Akker, Emile.

In: Stem cell research, Vol. 18, 2017, p. 26-28.

 

Generation and characterization of human iPSC lines SANi001-A and SANi002-A from mobilized peripheral blood derived megakaryoblasts. / Hansen, Marten; Varga, Eszter; Wüst, Tatjana; Mellink, Clemens; van der Kevie-Kersemaekers, Anne-Marie; von Lindern, Marieke; van den Akker, Emile.

In: Stem cell research, Vol. 25, 2017, p. 42-45.

 

Generation and characterization of a human iPSC line SANi005-A containing the gray platelet associated heterozygous mutation p.Q287*in GFI1B. / Hansen, Marten; Varga, Eszter; Wüst, Tatjana; Mellink, Clemens; van der Kevie-Kersemaekers, Anne-Marie; Marneth, Anne E.; von Lindern, Marieke; van der Reijden, Bert; van den Akker, Emile.

In: Stem cell research, Vol. 25, 2017, p. 34-37.

 

Development of Refractive Errors-What Can We Learn From Inherited Retinal Dystrophies? / Hendriks, Michelle; Verhoeven, Virginie J. M.; Buitendijk, Gabriëlle H. S.; Polling, Jan Roelof; Meester-Smoor, Magda A.; Hofman, Albert; Kamermans, Maarten; Ingeborgh van den Born, L.; Klaver, Caroline C. W.; AUTHOR GROUP.

In: American journal of ophthalmology, Vol. 182, 2017, p. 81-89.

 

Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives. / Holtkamp, Kim C. A.; Mathijssen, Inge B.; Lakeman, Phillis; van Maarle, Merel C.; Dondorp, Wybo J.; Henneman, Lidewij; Cornel, Martina C.

In: European journal of public health, Vol. 27, No. 2, 2017, p. 372-377.

 

Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape. / Holtkamp, Kim C. A.; Vos, Evelien M.; Rigter, Tessel; Lakeman, Phillis; Henneman, Lidewij; Cornel, Martina C.

In: BMC health services research, Vol. 17, No. 1, 2017, p. 146.

 

Experiences of a High-Risk Population with Prenatal Hemoglobinopathy Carrier Screening in a Primary Care Setting: a Qualitative Study. / Holtkamp, Kim C. A.; Lakeman, Phillis; Hader, Hind; Jans, Suze M. J. P.; Hoenderdos, Maria; Playfair, Henna A. M.; Cornel, Martina C.; Peters, Marjolein; Henneman, Lidewij.

In: Journal of genetic counseling, 2017.

 

Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation. / Hoorntje, Edgar T.; Bollen, Ilse A.; Barge-Schaapveld, Daniela Q.; van Tienen, Florence H.; te Meerman, Gerard J.; Jansweijer, Joeri A.; van Essen, Anthonie J.; Volders, Paul G.; Constantinescu, Alina A.; van den Akker, Peter C.; van Spaendonck-Zwarts, Karin Y.; Oldenburg, Rogier A.; Marcelis, Carlo L.; van der Smagt, Jasper J.; Hennekam, Eric A.; Vink, Aryan; Bootsma, Marianne; Aten, Emmelien; Wilde, Arthur A.; van den Wijngaard, Arthur; Broers, Jos L.; Jongbloed, Jan D.; van der Velden, Jolanda; van den Berg, Maarten P.; van Tintelen, J. Peter.

In: Circulation. Cardiovascular genetics, Vol. 10, No. 4, 2017, p. UNSP e001631.

Research output: Scientific – peer-review › Article

 

Arrhythmogenic cardiomyopathy: pathology, genetics, and concepts in pathogenesis. / Hoorntje, Edgar T.; te Rijdt, Wouter P.; James, Cynthia A.; Pilichou, Kalliopi; Basso, Cristina; Judge, Daniel P.; Bezzina, Connie R.; van Tintelen, J. Peter.

In: Cardiovascular research, Vol. 113, No. 12, 2017, p. 1521-1531.

Research output: Scientific – peer-review › Review article

 

The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy. / Hoorntje, Edgar T.; van Spaendonck-Zwarts, Karin Y.; te Rijdt, Wouter P.; Boven, Ludolf; Vink, Aryan; van der Smagt, Jasper J.; Asselbergs, Folkert W.; van Wijngaarden, Jan; Hennekam, Eric A.; Pinto, Yigal M.; Lekanne Deprez, Ronald H.; Barge-Schaapveld, Daniela Q. C. M.; Bootsma, Marianne; Regieli, Jakub; Hoedemaekers, Yvonne M.; Jongbloed, Jan D. H.; van den Berg, Maarten P.; van Tintelen, J. Peter.

In: European journal of heart failure, 2017.

Research output: Scientific – peer-review › Article

 

Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up. / Huffnagel, Irene C.; Redeker, Egbert J. W.; Reneman, Liesbeth; Vaz, Frédéric M.; Ferdinandusse, Sacha; Poll-The, Bwee Tien.

In: JIMD reports, 2017.

Research output: Scientific – peer-review › Article

 

Phenotypes and genotypes in individuals with SMC1A variants. / Huisman, Sylvia; Mulder, Paul A.; Redeker, Egbert; Bader, Ingrid; Bisgaard, Anne-Marie; Brooks, Alice; Cereda, Anna; Cinca, Constanza; Clark, Dinah; Cormier-Daire, Valerie; Deardorff, Matthew A.; Diderich, Karin; Elting, Mariet; van Essen, Anthonie; Fitzpatrick, David; Gervasini, Cristina; Gillessen-Kaesbach, Gabriele; Girisha, Katta M.; Hilhorst-Hofstee, Yvonne; Hopman, Saskia; Horn, Denise; Isrie, Mala; Jansen, Sandra; Jespersgaard, Cathrine; Kaiser, Frank J.; Kaur, Maninder; Kleefstra, Tjitske; Krantz, Ian D.; Lakeman, Phillis; Landlust, Annemiek; Lessel, Davor; Michot, Caroline; Moss, Jo; Noon, Sarah E.; Oliver, Chris; Parenti, Ilaria; Pie, Juan; Ramos, Feliciano J.; Rieubland, Claudine; Russo, Silvia; Selicorni, Angelo; Tümer, Zeynep; Vorstenbosch, Rieneke; Wenger, Tara L.; van Balkom, Ingrid; Piening, Sigrid; Wierzba, Jolanta; Hennekam, Raoul C.

In: American journal of medical genetics. Part A, Vol. 173A, No. 8, 2017, p. 2108-2125.

Research output: Scientific – peer-review › Article

 

Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy. / Jansweijer, Joeri A.; Nieuwhof, Karin; Russo, Francesco; Hoorntje, Edgar T.; Jongbloed, Jan D. H.; Lekanne Deprez, Ronald H.; Postma, Alex V.; Bronk, Marieke; van Rijsingen, Ingrid A. W.; de Haij, Simone; Biagini, Elena; van Haelst, Paul L.; van Wijngaarden, Jan; van den Berg, Maarten P.; Wilde, Arthur A. M.; Mannens, Marcel M. A. M.; de Boer, Rudolf A.; van Spaendonck-Zwarts, Karin Y.; van Tintelen, J. Peter; Pinto, Yigal M.

In: European journal of heart failure, Vol. 19, No. 4, 2017, p. 512-521.

Research output: Scientific – peer-review › Article

 

Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene. / Jenewein, T.; Beckmann, B. M.; Rose, S.; Osterhues, H. H.; Schmidt, U.; Wolpert, C.; Miny, P.; Marschall, C.; Alders, M.; Bezzina, C. R.; Wilde, A. A. M.; Kääb, S.; Kauferstein, S.

In: Forensic science international, Vol. 275, 2017, p. 187-194.

Research output: Scientific – peer-review › Article

 

Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma. / Kalish, Jennifer M.; Doros, Leslie; Helman, Lee J.; Hennekam, Raoul C.; Kuiper, Roland P.; Maas, Saskia M.; Maher, Eamonn R.; Nichols, Kim E.; Plon, Sharon E.; Porter, Christopher C.; Rednam, Surya; Schultz, Kris Ann P.; States, Lisa J.; Tomlinson, Gail E.; Zelley, Kristin; Druley, Todd E.

In: Clinical cancer research, Vol. 23, No. 13, 2017, p. E115-E122.

Research output: Scientific – peer-review › Article

 

Nomenclature and definition in asymmetric regional body overgrowth. / Kalish, Jennifer M.; Biesecker, Leslie G.; Brioude, Frederic; Deardorff, Matthew A.; Di Cesare-Merlone, Alessandra; Druley, Todd; Ferrero, Giovanni B.; Lapunzina, Pablo; Larizza, Lidia; Maas, Saskia; Macchiaiolo, Marina; Maher, Eamonn R.; Maitz, Silvia; Martinez-Agosto, Julian A.; Mussa, Alessandro; Robinson, Peter; Russo, Silvia; Selicorni, Angelo; Hennekam, Raoul C.

In: American journal of medical genetics. Part A, Vol. 173, No. 7, 2017, p. 1735-1738.

Research output: Scientific – peer-review › Article

 

Adrenal Lesions in Patients With (Attenuated) Familial Adenomatous Polyposis and MUTYH-Associated Polyposis. / Kallenberg, Frank G. J.; Bastiaansen, Barbara A. J.; Nio, C. Yung; Soeters, Maarten R.; Boermeester, Marja A.; Aalfs, Cora M.; Bossuyt, Patrick M. M.; Dekker, Evelien.

In: Diseases of the colon and rectum, Vol. 60, No. 10, 2017, p. 1057-1064.

Research output: Scientific – peer-review › Article

 

Duodenal Adenomas in Patients With Multiple Colorectal Adenomas Without Germline APC or MUTYH Mutations. / Kallenberg, Frank G. J.; Latchford, Andrew; Lips, Nikki C.; Aalfs, Cora M.; Bastiaansen, Barbara A. J.; Clark, Susan K.; Dekker, Evelien.

In: Diseases of the colon and rectum, Vol. 61, No. 1, 2018, p. 58-66.

Research output: Scientific – peer-review › Article

 

Evaluation of an online family history tool for identifying hereditary and familial colorectal cancer. / Kallenberg, F. G. J.; Aalfs, C. M.; The, F. O.; Wientjes, C. A.; Depla, A. C.; Mundt, M. W.; Bossuyt, P. M. M.; Dekker, E.

In: Familial cancer, 2017.

Research output: Scientific – peer-review › Article

 

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel. / Kelly, Melissa A.; Caleshu, Colleen; Morales, Ana; Buchan, Jillian; Wolf, Zena; Harrison, Steven M.; Cook, Stuart; Dillon, Mitchell W.; Garcia, John; Haverfield, Eden; Jongbloed, Jan D. H.; Macaya, Daniela; Manrai, Arjun; Orland, Kate; Richard, Gabriele; Spoonamore, Katherine; Thomas, Matthew; Thomson, Kate; Vincent, Lisa M.; Walsh, Roddy; Watkins, Hugh; Whiffin, Nicola; Ingles, Jodie; van Tintelen, J. Peter; Semsarian, Christopher; Ware, James S.; Hershberger, Ray; Funke, Birgit.

In: Genetics in medicine, 2018.

Research output: Scientific – peer-review › Article

 

High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation. / Klauke, Baerbel; Gaertner-Rommel, Anna; Schulz, Uwe; Kassner, Astrid; Zu Knyphausen, Edzard; Laser, Thorsten; Kececioglu, Deniz; Paluszkiewicz, Lech; Blanz, Ute; Sandica, Eugen; van den Bogaerdt, Antoon J.; van Tintelen, J. Peter; Gummert, Jan; Milting, Hendrik.

In: PLoS ONE, Vol. 12, No. 12, 2017, p. e0189489.

Research output: Scientific – peer-review › Article

 

Young girl with severe early-onset obesity and hyperphagia. / Kleinendorst, Lotte; van Haelst, Mieke M.; van den Akker, Erica L. T.

In: BMJ case reports, Vol. 2017, 2017.

Research output: Scientific – peer-review › Article

 

Factors associated with cancer worries in individuals participating in annual pancreatic cancer surveillance. / Konings, Ingrid C. A. W.; Harinck, Femme; Kuenen, Marianne A.; Sidharta, Grace N.; Kieffer, Jacobien M.; Aalfs, Cora M.; Poley, Jan-Werner; Smets, Ellen M. A.; Wagner, Anja; van Rens, Anja; Vleggaar, Frank P.; Ausems, Margreet G. E. M.; Fockens, Paul; van Hooft, Jeanin E.; Bruno, Marco J.; Bleiker, Eveline M. A.

In: Familial cancer, Vol. 16, No. 1, 2017, p. 143-151.

Research output: Scientific – peer-review › Article

 

Prevalence and Progression of Pancreatic Cystic Precursor Lesions Differ Between Groups at High Risk of Developing Pancreatic Cancer. / Konings, Ingrid C. A. W.; Harinck, Femme; Poley, Jan-Werner; Aalfs, Cora M.; van Rens, Anja; Krak, Nanda C.; Wagner, Anja; Nio, C. Yung; Sijmons, Rolf H.; van Dullemen, Hendrik M.; Vleggaar, Frank P.; Ausems, Margreet G. E. M.; Fockens, Paul; van Hooft, Jeanin E.; Bruno, Marco J.

In: Pancreas, Vol. 46, No. 1, 2017, p. 28-34.

Research output: Scientific – peer-review › Article

 

Redefining the role of biomarkers in heart failure trials: expert consensus document. / Kramer, Frank; Sabbah, Hani N.; Januzzi, James J.; Zannad, Faiez; van Tintelen, J. Peter; Schelbert, Erik B.; Kim, Raymond J.; Milting, Hendrik; Vonk, Richardus; Neudeck, Brien; Clark, Richard; Witte, Klaus; Dinh, Wilfried; Pieske, Burkert; Butler, Javed; Gheorghiade, Mihai.

In: Heart failure reviews, Vol. 22, No. 3, 2017, p. 263-277.

Research output: Scientific – peer-review › Review article

 

Genetic variant in CACNA1C is associated with PTSD in traumatized police officers. / Krzyzewska, Izabela M.; Ensink, Judith B. M.; Nawijn, Laura; Mul, Adri N.; Koch, Saskia B.; Venema, Andrea; Shankar, Vinod; Frijling, Jessie L.; Veltman, Dirk J.; Lindauer, Ramon J. L.; Olff, Miranda; Mannens, Marcel M. A. M.; van Zuiden, Mirjam; Henneman, Peter.

In: European journal of human genetics, 2018.

Research output: Scientific – peer-review › Article

 

Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death. / Lahrouchi, Najim; Lodder, Elisabeth M.; Mansouri, Maria; Tadros, Rafik; Zniber, Layla; Adadi, Najlae; Clur, Sally-Ann B.; van Spaendonck-Zwarts, Karin Y.; Postma, Alex V.; Sefiani, Abdelaziz; Ratbi, Ilham; Bezzina, Connie R.

In: European journal of human genetics, Vol. 25, No. 6, 2017, p. 783-787.

Research output: Scientific – peer-review › Article

 

Gain-of-function mutation in SCN5A causes ventricular arrhythmias and early onset atrial fibrillation. / Lieve, Krystien V.; Verkerk, Arie O.; Podliesna, Svitlana; van der Werf, Christian; Tanck, Michael W.; Hofman, Nynke; van Bergen, Paul F.; Beekman, Leander; Bezzina, Connie R.; Wilde, Arthur A. M.; Lodder, Elisabeth M.

In: International journal of cardiology, Vol. 236, 2017, p. 187-193.

Research output: Scientific – peer-review › Article

 

Cascade screening for familial hypercholesterolemia: Practical consequences. / Louter, Leonora; Defesche, Joep; Roeters van Lennep, Jeanine.

In: Atherosclerosis. Supplements, Vol. 30, 2017, p. 77-85.

Research output: Scientific – peer-review › Article

 

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. / Loviglio, M. N.; Leleu, M.; Männik, K.; Passeggeri, M.; Giannuzzi, G.; van der Werf, I.; Waszak, S. M.; Zazhytska, M.; Roberts-Caldeira, I.; Gheldof, N.; Migliavacca, E.; Alfaiz, A. A.; Hippolyte, L.; Maillard, A. M.; van Dijck, A.; Kooy, R. F.; Sanlaville, D.; Rosenfeld, J. A.; Shaffer, L. G.; Andrieux, J.; Marshall, C.; Scherer, S. W.; Shen, Y.; Gusella, J. F.; Thorsteinsdottir, U.; Thorleifsson, G.; Dermitzakis, E. T.; Deplancke, B.; Beckmann, J. S.; Rougemont, J.; Jacquemont, S.; Reymond, A.; AUTHOR GROUP.

In: Molecular psychiatry, Vol. 22, No. 6, 2017, p. 836-849.

Research output: Scientific – peer-review › Article

 

Trichorhinophalangeal Syndrome. / Maas, Saskia; Shaw, Adam; Bikker, Hennie; Hennekam, Raoul C. M.

GeneReviews. ed. / Margaret P. Adam; Holly H. Ardinger; Roberta A. Pagon; Stephanie E. Wallace; Lora J. H. Bean; Karen Stephens; Anne Amemiya. Seattle : University of Washington, 2017.

Research output: Scientific – peer-review › Chapter

 

Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature. / Mary, Laura; Scheidecker, Sophie; Kohler, Monique; Lombardi, Maria-Paola; Delezoide, Anne-Lise; Auberger, Elisabeth; Triau, Stéphane; Colin, Estelle; Gerard, Marion; Grzeschik, Karl-Heinz; Dollfus, Hélène; Antal, Maria Cristina.

In: American journal of medical genetics. Part A, Vol. 173A, No. 2, 2017, p. 479-486.

Research output: Scientific – peer-review › Article

 

LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability. / Mathijssen, Inge B.; Florijn, Ralph J.; van den Born, L. Ingeborgh; Zekveld-Vroon, Renate C.; ten Brink, Jacoline B.; Plomp, Astrid S.; Baas, Frank; Meijers-Heijboer, Hanne; Bergen, Arthur A. B.; van Schooneveld, Mary J.

In: Retina (Philadelphia, Pa.), Vol. 37, No. 1, 2017, p. 161-172.

Research output: Scientific – peer-review › Article

 

With expanded carrier screening, founder populations run the risk of being overlooked. / Mathijssen, Inge B.; van Maarle, Merel C.; Kleiss, Iris I. M.; Redeker, Egbert J. W.; ten Kate, Leo P.; Henneman, Lidewij; Meijers-Heijboer, Hanne.

In: Journal of community genetics, Vol. 8, No. 4, 2017, p. 327-333.

Research output: Scientific – peer-review › Article

 

Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population. / Mathijssen, Inge B.; Holtkamp, Kim C. A.; Ottenheim, Cecile P. E.; van Eeten-Nijman, Janneke M. C.; Lakeman, Phillis; Meijers-Heijboer, Hanne; van Maarle, Merel C.; Henneman, Lidewij.

In: European journal of human genetics, 2018.

Research output: Scientific – peer-review › Article

 

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis. / Mattioli, Francesca; Schaefer, Elise; Magee, Alex; Mark, Paul; Mancini, Grazia M.; Dieterich, Klaus; Von Allmen, Gretchen; Alders, Marielle; Coutton, Charles; van Slegtenhorst, Marjon; Vieville, Gaëlle; Engelen, Mark; Cobben, Jan Maarten; Juusola, Jane; Pujol, Aurora; Mandel, Jean-Louis; Piton, Amélie.

In: American journal of human genetics, Vol. 100, No. 1, 2017, p. 105-116.

Research output: Scientific – peer-review › Article

 

Peripheral insulin resistance rather than beta cell dysfunction accounts for geographical differences in impaired fasting blood glucose among sub-Saharan African individuals: findings from the RODAM study. / Meeks, Karlijn A. C.; Stronks, Karien; Adeyemo, Adebowale; Addo, Juliet; Bahendeka, Silver; Beune, Erik; Owusu-Dabo, Ellis; Danquah, Ina; Galbete, Cecilia; Henneman, Peter; Klipstein-Grobusch, Kerstin; Mockenhaupt, Frank P.; Osei, Kwame; Schulze, Matthias B.; Spranger, Joachim; Smeeth, Liam; Agyemang, Charles.

In: Diabetologia, Vol. 60, No. 5, 2017, p. 854-864.

Research output: Scientific – peer-review › Article

 

An epigenome-wide association study in whole blood of measures of adiposity among Ghanaians: the RODAM study. / Meeks, Karlijn A. C.; Henneman, Peter; Venema, Andrea; Burr, Tom; Galbete, Cecilia; Danquah, Ina; Schulze, Matthias B.; Mockenhaupt, Frank P.; Owusu-Dabo, Ellis; Rotimi, Charles N.; Addo, Juliet; Smeeth, Liam; Bahendeka, Silver; Spranger, Joachim; Mannens, Marcel M. A. M.; Zafarmand, Mohammad H.; Agyemang, Charles; Adeyemo, Adebowale.

In: Clinical epigenetics, Vol. 9, 2017, p. 103.

Research output: Scientific – peer-review › Article

 

Association analysis identifies 65 new breast cancer risk loci. / Michailidou, Kyriaki; Lindström, Sara; Dennis, Joe; Beesley, Jonathan; Hui, Shirley; Kar, Siddhartha; Lemaçon, Audrey; Soucy, Penny; Glubb, Dylan; Rostamianfar, Asha; Bolla, Manjeet K.; Wang, Qin; Tyrer, Jonathan; Dicks, Ed; Lee, Andrew; Wang, Zhaoming; Allen, Jamie; Keeman, Renske; Eilber, Ursula; French, Juliet D.; Qing Chen, Xiao; Fachal, Laura; McCue, Karen; McCart Reed, Amy E.; Ghoussaini, Maya; Carroll, Jason S.; Jiang, Xia; Finucane, Hilary; Adams, Marcia; Adank, Muriel A.; Ahsan, Habibul; Aittomäki, Kristiina; Anton-Culver, Hoda; Antonenkova, Natalia N.; Arndt, Volker; Aronson, Kristan J.; Arun, Banu; Auer, Paul L.; Bacot, François; Barrdahl, Myrto; Baynes, Caroline; Beckmann, Matthias W.; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Bernstein, Leslie; Blomqvist, Carl; Bogdanova, Natalia V.; Bojesen, Stig E.; Bonanni, Bernardo; Børresen-Dale, Anne-Lise; Brand, Judith S.; Brauch, Hiltrud; Brennan, Paul; Brenner, Hermann; Brinton, Louise; Broberg, Per; Brock, Ian W.; Broeks, Annegien; Brooks-Wilson, Angela; Brucker, Sara Y.; Brüning, Thomas; Burwinkel, Barbara; Butterbach, Katja; Cai, Qiuyin; Cai, Hui; Caldés, Trinidad; Canzian, Federico; Carracedo, Angel; Carter, Brian D.; Castelao, Jose E.; Chan, Tsun L.; David Cheng, Ting-Yuan; Seng Chia, Kee; Choi, Ji-Yeob; Christiansen, Hans; Clarke, Christine L.; Collée, Margriet; Conroy, Don M.; Cordina-Duverger, Emilie; Cornelissen, Sten; Cox, David G.; Cox, Angela; Cross, Simon S.; Cunningham, Julie M.; Czene, Kamila; Daly, Mary B.; Devilee, Peter; Doheny, Kimberly F.; Dörk, Thilo; Dos-Santos-Silva, Isabel; Dumont, Martine; Durcan, Lorraine; Dwek, Miriam; Eccles, Diana M.; Ekici, Arif B.; Eliassen, A. Heather; Ellberg, Carolina; Elvira, Mingajeva; Engel, Christoph; Eriksson, Mikael; Fasching, Peter A.; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Flyger, Henrik; Fritschi, Lin; Gaborieau, Valerie; Gabrielson, Marike; Gago-Dominguez, Manuela; Gao, Yu-Tang; Gapstur, Susan M.; García-Sáenz, José A.; Gaudet, Mia M.; Georgoulias, Vassilios; Giles, Graham G.; Glendon, Gord; Goldberg, Mark S.; Goldgar, David E.; González-Neira, Anna; Grenaker Alnæs, Grethe I.; Grip, Mervi; Gronwald, Jacek; Grundy, Anne; Guénel, Pascal; Haeberle, Lothar; Hahnen, Eric; Haiman, Christopher A.; Håkansson, Niclas; Hamann, Ute; Hamel, Nathalie; Hankinson, Susan; Harrington, Patricia; Hart, Steven N.; Hartikainen, Jaana M.; Hartman, Mikael; Hein, Alexander; Heyworth, Jane; Hicks, Belynda; Hillemanns, Peter; Ho, Dona N.; Hollestelle, Antoinette; Hooning, Maartje J.; Hoover, Robert N.; Hopper, John L.; Hou, Ming-Feng; Hsiung, Chia-Ni; Huang, Guanmengqian; Humphreys, Keith; Ishiguro, Junko; Ito, Hidemi; Iwasaki, Motoki; Iwata, Hiroji; Jakubowska, Anna; Janni, Wolfgang; John, Esther M.; Johnson, Nichola; Jones, Kristine; Jones, Michael; Jukkola-Vuorinen, Arja; Kaaks, Rudolf; Kabisch, Maria; Kaczmarek, Katarzyna; Kang, Daehee; Kasuga, Yoshio; Kerin, Michael J.; Khan, Sofia; Khusnutdinova, Elza; Kiiski, Johanna I.; Kim, Sung-Won; Knight, Julia A.; Kosma, Veli-Matti; Kristensen, Vessela N.; Krüger, Ute; Kwong, Ava; Lambrechts, Diether; Le Marchand, Loic; Lee, Eunjung; Lee, Min Hyuk; Lee, Jong Won; Neng Lee, Chuen; Lejbkowicz, Flavio; Li, Jingmei; Lilyquist, Jenna; Lindblom, Annika; Lissowska, Jolanta; Lo, Wing-Yee; Loibl, Sibylle; Long, Jirong; Lophatananon, Artitaya; Lubinski, Jan; Luccarini, Craig; Lux, Michael P.; Ma, Edmond S. K.; MacInnis, Robert J.; Maishman, Tom; Makalic, Enes; Malone, Kathleen E.; Kostovska, Ivana Maleva; Mannermaa, Arto; Manoukian, Siranoush; Manson, JoAnn E.; Margolin, Sara; Mariapun, Shivaani; Martinez, Maria Elena; Matsuo, Keitaro; Mavroudis, Dimitrios; McKay, James; McLean, Catriona; Meijers-Heijboer, Hanne; Meindl, Alfons; Menéndez, Primitiva; Menon, Usha; Meyer, Jeffery; Miao, Hui; Miller, Nicola; Taib, Nur Aishah Mohd; Muir, Kenneth; Mulligan, Anna Marie; Mulot, Claire; Neuhausen, Susan L.; Nevanlinna, Heli; Neven, Patrick; Nielsen, Sune F.; Noh, Dong-Young; Nordestgaard, Børge G.; Norman, Aaron; Olopade, Olufunmilayo I.; Olson, Janet E.; Olsson, Håkan; Olswold, Curtis; Orr, Nick; Pankratz, V. Shane; Park, Sue K.; Park-Simon, Tjoung-Won; Lloyd, Rachel; Perez, Jose I. A.; Peterlongo, Paolo; Peto, Julian; Phillips, Kelly-Anne; Pinchev, Mila; Plaseska-Karanfilska, Dijana; Prentice, Ross; Presneau, Nadege; Prokofyeva, Darya; Pugh, Elizabeth; Pylkäs, Katri; Rack, Brigitte; Radice, Paolo; Rahman, Nazneen; Rennert, Gadi; Rennert, Hedy S.; Rhenius, Valerie; Romero, Atocha; Romm, Jane; Ruddy, Kathryn J.; Rüdiger, Thomas; Rudolph, Anja; Ruebner, Matthias; Rutgers, Emiel J. T.; Saloustros, Emmanouil; Sandler, Dale P.; Sangrajrang, Suleeporn; Sawyer, Elinor J.; Schmidt, Daniel F.; Schmutzler, Rita K.; Schneeweiss, Andreas; Schoemaker, Minouk J.; Schumacher, Fredrick; Schürmann, Peter; Scott, Rodney J.; Scott, Christopher; Seal, Sheila; Seynaeve, Caroline; Shah, Mitul; Sharma, Priyanka; Shen, Chen-Yang; Sheng, Grace; Sherman, Mark E.; Shrubsole, Martha J.; Shu, Xiao-Ou; Smeets, Ann; Sohn, Christof; Southey, Melissa C.; Spinelli, John J.; Stegmaier, Christa; Stewart-Brown, Sarah; Stone, Jennifer; Stram, Daniel O.; Surowy, Harald; Swerdlow, Anthony; Tamimi, Rulla; Taylor, Jack A.; Tengström, Maria; teo, Soo H.; Beth Terry, Mary; Tessier, Daniel C.; Thanasitthichai, Somchai; Thöne, Kathrin; Tollenaar, Rob A. E. M.; Tomlinson, Ian; Tong, Ling; Torres, Diana; Truong, Thérèse; Tseng, Chiu-Chen; Tsugane, Shoichiro; Ulmer, Hans-Ulrich; Ursin, Giske; Untch, Michael; Vachon, Celine; van Asperen, Christi J.; van den Berg, David; van den Ouweland, Ans M. W.; van der Kolk, Lizet; van der Luijt, Rob B.; Vincent, Daniel; Vollenweider, Jason; Waisfisz, Quinten; Wang-Gohrke, Shan; Weinberg, Clarice R.; Wendt, Camilla; Whittemore, Alice S.; Wildiers, Hans; Willett, Walter; Winqvist, Robert; Wolk, Alicja; Wu, Anna H.; Xia, Lucy; Yamaji, Taiki; Yang, Xiaohong R.; Har Yip, Cheng; Yoo, Keun-Young; Yu, Jyh-Cherng; Zheng, Wei; Zheng, Ying; Zhu, Bin; Ziogas, Argyrios; Ziv, Elad; Lakhani, Sunil R.; Antoniou, Antonis C.; Droit, Arnaud; Andrulis, Irene L.; Amos, Christopher I.; Couch, Fergus J.; Pharoah, Paul D. P.; Chang-Claude, Jenny; Hall, Per; Hunter, David J.; Milne, Roger L.; García-Closas, Montserrat; Schmidt, Marjanka K.; Chanock, Stephen J.; Dunning, Alison M.; Edwards, Stacey L.; Bader, Gary D.; Chenevix-Trench, Georgia; Simard, Jacques; Kraft, Peter; Easton, Douglas F.

In: Nature, Vol. 551, No. 7678, 2017, p. 92-94.

Research output: Scientific – peer-review › Article

 

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition. / Mikropoulos, Christos; Selkirk, Christina G. Hutten; Saya, Sibel; Bancroft, Elizabeth; Vertosick, Emily; Dadaev, Tokhir; Brendler, Charles; Page, Elizabeth; Dias, Alexander; Evans, D. Gareth; Rothwell, Jeanette; Maehle, Lovise; Axcrona, Karol; Richardson, Kate; Eccles, Diana; Jensen, Thomas; Osther, Palle J.; van Asperen, Christi J.; Vasen, Hans; Kiemeney, Lambertus A.; Ringelberg, Janneke; Cybulski, Cezary; Wokolorczyk, Dominika; Hart, Rachel; Glover, Wayne; Lam, Jimmy; Taylor, Louise; Salinas, Monica; Feliubadaló, Lidia; Oldenburg, Rogier; Cremers, Ruben; Verhaegh, Gerald; van Zelst-Stams, Wendy A.; Oosterwijk, Jan C.; Cook, Jackie; Rosario, Derek J.; Buys, Saundra S.; Conner, Tom; Domchek, Susan; Powers, Jacquelyn; Ausems, Margreet Gem; Teixeira, Manuel R.; Maia, Sofia; Izatt, Louise; Schmutzler, Rita; Rhiem, Kerstin; Foulkes, William D.; Boshari, Talia; Davidson, Rosemarie; Ruijs, Marielle; Helderman-van den Enden, Apollonia Tjm; Andrews, Lesley; Walker, Lisa; Snape, Katie; Henderson, Alex; Jobson, Irene; Lindeman, Geoffrey J.; Liljegren, Annelie; Harris, Marion; Adank, Muriel A.; Kirk, Judy; Taylor, Amy; Susman, Rachel; Chen-Shtoyerman, Rakefet; Pachter, Nicholas; Spigelman, Allan; Side, Lucy; Zgajnar, Janez; Mora, Josefina; Brewer, Carole; Gadea, Neus; Brady, Angela F.; Gallagher, David; van Os, Theo; Donaldson, Alan; Stefansdottir, Vigdis; Barwell, Julian; James, Paul A.; Murphy, Declan; Friedman, Eitan; Nicolai, Nicola; Greenhalgh, Lynn; Obeid, Elias; Murthy, Vedang; Copakova, Lucia; McGrath, John; teo, Soo-Hwang; Strom, Sara; Kast, Karin; Leongamornlert, Daniel A.; Chamberlain, Anthony; Pope, Jenny; Newlin, Anna C.; Aaronson, Neil; Ardern-Jones, Audrey; Bangma, Chris; Castro, Elena; Dearnaley, David; Eyfjord, Jorunn; Falconer, Alison; Foster, Christopher S.; Gronberg, Henrik; Hamdy, Freddie C.; Johannsson, Oskar; Khoo, Vincent; Lubinski, Jan; Grindedal, Eli Marie; McKinley, Joanne; Shackleton, Kylie; Mitra, Anita V.; Moynihan, Clare; Rennert, Gad; Suri, Mohnish; Tricker, Karen; Moss, Sue; Kote-Jarai, Zsofia; Vickers, Andrew; Lilja, Hans; Helfand, Brian T.; Eeles, Rosalind A.

In: British journal of cancer, Vol. 118, No. 2, 2018, p. 266-276.

Research output: Scientific – peer-review › Article

 

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. / Milne, Roger L.; Kuchenbaecker, Karoline B.; Michailidou, Kyriaki; Beesley, Jonathan; Kar, Siddhartha; Lindström, Sara; Hui, Shirley; Lemaçon, Audrey; Soucy, Penny; Dennis, Joe; Jiang, Xia; Rostamianfar, Asha; Finucane, Hilary; Bolla, Manjeet K.; McGuffog, Lesley; Wang, Qin; Aalfs, Cora M.; Adams, Marcia; Adlard, Julian; Agata, Simona; Ahmed, Shahana; Ahsan, Habibul; Aittomäki, Kristiina; Al-Ejeh, Fares; Allen, Jamie; Ambrosone, Christine B.; Amos, Christopher I.; Andrulis, Irene L.; Anton-Culver, Hoda; Antonenkova, Natalia N.; Arndt, Volker; Arnold, Norbert; Aronson, Kristan J.; Auber, Bernd; Auer, Paul L.; Ausems, Margreet G. E. M.; Azzollini, Jacopo; Bacot, François; Balmaña, Judith; Barile, Monica; Barjhoux, Laure; Barkardottir, Rosa B.; Barrdahl, Myrto; Barnes, Daniel; Barrowdale, Daniel; Baynes, Caroline; Beckmann, Matthias W.; Benitez, Javier; Bermisheva, Marina; Bernstein, Leslie; Bignon, Yves-Jean; Blazer, Kathleen R.; Blok, Marinus J.; Blomqvist, Carl; Blot, William; Bobolis, Kristie; Boeckx, Bram; Bogdanova, Natalia V.; Bojesen, Anders; Bojesen, Stig E.; Bonanni, Bernardo; Børresen-Dale, Anne-Lise; Bozsik, Aniko; Bradbury, Angela R.; Brand, Judith S.; Brauch, Hiltrud; Brenner, Hermann; Bressac-de Paillerets, Brigitte; Brewer, Carole; Brinton, Louise; Broberg, Per; Brooks-Wilson, Angela; Brunet, Joan; Brüning, Thomas; Burwinkel, Barbara; Buys, Saundra S.; Byun, Jinyoung; Cai, Qiuyin; Caldés, Trinidad; Caligo, Maria A.; Campbell, Ian; Canzian, Federico; Caron, Olivier; Carracedo, Angel; Carter, Brian D.; Castelao, J. Esteban; Castera, Laurent; Caux-Moncoutier, Virginie; Chan, Salina B.; Chang-Claude, Jenny; Chanock, Stephen J.; Chen, Xiaoqing; Cheng, Ting-Yuan David; Chiquette, Jocelyne; Christiansen, Hans; Claes, Kathleen B. M.; Clarke, Christine L.; Conner, Thomas; Conroy, Don M.; Cook, Jackie; Cordina-Duverger, Emilie; Cornelissen, Sten; Coupier, Isabelle; Cox, Angela; Cox, David G.; Cross, Simon S.; Cuk, Katarina; Cunningham, Julie M.; Czene, Kamila; Daly, Mary B.; Damiola, Francesca; Darabi, Hatef; Davidson, Rosemarie; de Leeneer, Kim; Devilee, Peter; Dicks, Ed; Diez, Orland; Ding, Yuan Chun; Ditsch, Nina; Doheny, Kimberly F.; Domchek, Susan M.; Dorfling, Cecilia M.; Dörk, Thilo; Dos-Santos-Silva, Isabel; Dubois, Stéphane; Dugué, Pierre-Antoine; Dumont, Martine; Dunning, Alison M.; Durcan, Lorraine; Dwek, Miriam; Dworniczak, Bernd; Eccles, Diana; Eeles, Ros; Ehrencrona, Hans; Eilber, Ursula; Ejlertsen, Bent; Ekici, Arif B.; Eliassen, A. Heather; Engel, Christoph; Eriksson, Mikael; Fachal, Laura; Faivre, Laurence; Fasching, Peter A.; Faust, Ulrike; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Flyger, Henrik; Foulkes, William D.; Friedman, Eitan; Fritschi, Lin; Frost, Debra; Gabrielson, Marike; Gaddam, Pragna; Gammon, Marilie D.; Ganz, Patricia A.; Gapstur, Susan M.; Garber, Judy; Garcia-Barberan, Vanesa; García-Sáenz, José A.; Gaudet, Mia M.; Gauthier-Villars, Marion; Gehrig, Andrea; Georgoulias, Vassilios; Gerdes, Anne-Marie; Giles, Graham G.; Glendon, Gord; Godwin, Andrew K.; Goldberg, Mark S.; Goldgar, David E.; González-Neira, Anna; Goodfellow, Paul; Greene, Mark H.; Alnæs, Grethe I. Grenaker; Grip, Mervi; Gronwald, Jacek; Grundy, Anne; Gschwantler-Kaulich, Daphne; Guénel, Pascal; Guo, Qi; Haeberle, Lothar; Hahnen, Eric; Haiman, Christopher A.; Håkansson, Niclas; Hallberg, Emily; Hamann, Ute; Hamel, Nathalie; Hankinson, Susan; Hansen, Thomas V. O.; Harrington, Patricia; Hart, Steven N.; Hartikainen, Jaana M.; Healey, Catherine S.; Hein, Alexander; Helbig, Sonja; Henderson, Alex; Heyworth, Jane; Hicks, Belynda; Hillemanns, Peter; Hodgson, Shirley; Hogervorst, Frans B.; Hollestelle, Antoinette; Hooning, Maartje J.; Hoover, Bob; Hopper, John L.; Hu, Chunling; Huang, Guanmengqian; Hulick, Peter J.; Humphreys, Keith; Hunter, David J.; Imyanitov, Evgeny N.; Isaacs, Claudine; Iwasaki, Motoki; Izatt, Louise; Jakubowska, Anna; James, Paul; Janavicius, Ramunas; Janni, Wolfgang; Jensen, Uffe Birk; John, Esther M.; Johnson, Nichola; Jones, Kristine; Jones, Michael; Jukkola-Vuorinen, Arja; Kaaks, Rudolf; Kabisch, Maria; Kaczmarek, Katarzyna; Kang, Daehee; Kast, Karin; Keeman, Renske; Kerin, Michael J.; Kets, Carolien M.; Keupers, Machteld; Khan, Sofia; Khusnutdinova, Elza; Kiiski, Johanna I.; Kim, Sung-Won; Knight, Julia A.; Konstantopoulou, Irene; Kosma, Veli-Matti; Kristensen, Vessela N.; Kruse, Torben A.; Kwong, Ava; Lænkholm, Anne-Vibeke; Laitman, Yael; Lalloo, Fiona; Lambrechts, Diether; Landsman, Keren; Lasset, Christine; Lazaro, Conxi; Le Marchand, Loic; Lecarpentier, Julie; Lee, Andrew; Lee, Eunjung; Lee, Jong Won; Lee, Min Hyuk; Lejbkowicz, Flavio; Lesueur, Fabienne; Li, Jingmei; Lilyquist, Jenna; Lincoln, Anne; Lindblom, Annika; Lissowska, Jolanta; Lo, Wing-Yee; Loibl, Sibylle; Long, Jirong; Loud, Jennifer T.; Lubinski, Jan; Luccarini, Craig; Lush, Michael; MacInnis, Robert J.; Maishman, Tom; Makalic, Enes; Kostovska, Ivana Maleva; Malone, Kathleen E.; Manoukian, Siranoush; Manson, JoAnn E.; Margolin, Sara; Martens, John W. M.; Martinez, Maria Elena; Matsuo, Keitaro; Mavroudis, Dimitrios; Mazoyer, Sylvie; McLean, Catriona; Meijers-Heijboer, Hanne; Menéndez, Primitiva; Meyer, Jeffery; Miao, Hui; Miller, Austin; Miller, Nicola; Mitchell, Gillian; Montagna, Marco; Muir, Kenneth; Mulligan, Anna Marie; Mulot, Claire; Nadesan, Sue; Nathanson, Katherine L.; Neuhausen, Susan L.; Nevanlinna, Heli; Nevelsteen, Ines; Niederacher, Dieter; Nielsen, Sune F.; Nordestgaard, Børge G.; Norman, Aaron; Nussbaum, Robert L.; Olah, Edith; Olopade, Olufunmilayo I.; Olson, Janet E.; Olswold, Curtis; Ong, Kai-Ren; Oosterwijk, Jan C.; Orr, Nick; Osorio, Ana; Pankratz, V. Shane; Papi, Laura; Park-Simon, Tjoung-Won; Paulsson-Karlsson, Ylva; Lloyd, Rachel; Pedersen, Inge Søkilde; Peissel, Bernard; Peixoto, Ana; Perez, Jose I. A.; Peterlongo, Paolo; Peto, Julian; Pfeiler, Georg; Phelan, Catherine M.; Pinchev, Mila; Plaseska-Karanfilska, Dijana; Poppe, Bruce; Porteous, Mary E.; Prentice, Ross; Presneau, Nadege; Prokofieva, Darya; Pugh, Elizabeth; Pujana, Miquel Angel; Pylkäs, Katri; Rack, Brigitte; Radice, Paolo; Rahman, Nazneen; Rantala, Johanna; Rappaport-Fuerhauser, Christine; Rennert, Gad; Rennert, Hedy S.; Rhenius, Valerie; Rhiem, Kerstin; Richardson, Andrea; Rodriguez, Gustavo C.; Romero, Atocha; Romm, Jane; Rookus, Matti A.; Rudolph, Anja; Ruediger, Thomas; Saloustros, Emmanouil; Sanders, Joyce; Sandler, Dale P.; Sangrajrang, Suleeporn; Sawyer, Elinor J.; Schmidt, Daniel F.; Schoemaker, Minouk J.; Schumacher, Fredrick; Schürmann, Peter; Schwentner, Lukas; Scott, Christopher; Scott, Rodney J.; Seal, Sheila; Senter, Leigha; Seynaeve, Caroline; Shah, Mitul; Sharma, Priyanka; Shen, Chen-Yang; Sheng, Xin; Shimelis, Hermela; Shrubsole, Martha J.; Shu, Xiao-Ou; Side, Lucy E.; Singer, Christian F.; Sohn, Christof; Southey, Melissa C.; Spinelli, John J.; Spurdle, Amanda B.; Stegmaier, Christa; Stoppa-Lyonnet, Dominique; Sukiennicki, Grzegorz; Surowy, Harald; Sutter, Christian; Swerdlow, Anthony; Szabo, Csilla I.; Tamimi, Rulla M.; Tan, Yen Y.; Taylor, Jack A.; Tejada, Maria-Isabel; Tengström, Maria; teo, Soo H.; Terry, Mary B.; Tessier, Daniel C.; Teulé, Alex; Thöne, Kathrin; Thull, Darcy L.; Tibiletti, Maria Grazia; Tihomirova, Laima; Tischkowitz, Marc; Toland, Amanda E.; Tollenaar, Rob A. E. M.; Tomlinson, Ian; Tong, Ling; Torres, Diana; Tranchant, Martine; Truong, Thérèse; Tucker, Kathy; Tung, Nadine; Tyrer, Jonathan; Ulmer, Hans-Ulrich; Vachon, Celine; van Asperen, Christi J.; van den Berg, David; van den Ouweland, Ans M. W.; van Rensburg, Elizabeth J.; Varesco, Liliana; Varon-Mateeva, Raymonda; Vega, Ana; Viel, Alessandra; Vijai, Joseph; Vincent, Daniel; Vollenweider, Jason; Walker, Lisa; Wang, Zhaoming; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Weinberg, Clarice R.; Weitzel, Jeffrey N.; Wendt, Camilla; Wesseling, Jelle; Whittemore, Alice S.; Wijnen, Juul T.; Willett, Walter; Winqvist, Robert; Wolk, Alicja; Wu, Anna H.; Xia, Lucy; Yang, Xiaohong R.; Yannoukakos, Drakoulis; Zaffaroni, Daniela; Zheng, Wei; Zhu, Bin; Ziogas, Argyrios; Ziv, Elad; Zorn, Kristin K.; Gago-Dominguez, Manuela; Mannermaa, Arto; Olsson, Håkan; Teixeira, Manuel R.; Stone, Jennifer; Offit, Kenneth; Ottini, Laura; Park, Sue K.; Thomassen, Mads; Hall, Per; Meindl, Alfons; Schmutzler, Rita K.; Droit, Arnaud; Bader, Gary D.; Pharoah, Paul D. P.; Couch, Fergus J.; Easton, Douglas F.; Kraft, Peter; Chenevix-Trench, Georgia; García-Closas, Montserrat; Schmidt, Marjanka K.; Antoniou, Antonis C.; Simard, Jacques.

In: Nature genetics, Vol. 49, No. 12, 2017, p. 1767-1778.

Research output: Scientific › Comment/Letter to the editor

 

Performance of BRCA1/2 mutation prediction models in male breast cancer patients. / Moghadasi, S.; Grundeken, V.; Janssen, L. A. M.; Dijkstra, N. H.; Rodríguez-Girondo, M.; van Zelst-Stams, W. A. G.; Oosterwijk, J. C.; Ausems, M. G. E. M.; Oldenburg, R. A.; Adank, M. A.; Blom, E. W.; Ruijs, M. W. G.; van Os, T. A. M.; van Deurzen, C. H. M.; Martens, J. W. M.; Schroder, C. P.; Wijnen, J. T.; Vreeswijk, M. P. G.; van Asperen, C. J.

In: Clinical genetics, Vol. 93, No. 1, 2018, p. 52-59.

Research output: Scientific – peer-review › Article

 

Chronological age prediction based on DNA methylation: Massive parallel sequencing and random forest regression. / Naue, Jana; Hoefsloot, Huub C. J.; Mook, Olaf R. F.; Rijlaarsdam-Hoekstra, Laura; van der Zwalm, Marloes C. H.; Henneman, Peter; Kloosterman, Ate D.; Verschure, Pernette J.

In: Forensic science international. Genetics, Vol. 31, 2017, p. 19-28.

Research output: Scientific – peer-review › Article

 

Follow-up care by a genetic counsellor for relatives at risk for cardiomyopathies is cost-saving and well-appreciated: a randomised comparison. / Nieuwhof, Karin; Birnie, Erwin; van den Berg, Maarten P.; de Boer, Rudolf A.; van Haelst, Paul L.; van Tintelen, J. Peter; van Langen, Irene M.

In: European journal of human genetics, Vol. 25, No. 2, 2017, p. 169-175.

Research output: Scientific – peer-review › Article

 

Spectral EMG Changes in Cervical Dystonia Patients and the Influence of Botulinum Toxin Treatment. / Nijmeijer, S. W. R.; de Bruijn, E.; Verhagen, R.; Forbes, P. A.; Kamphuis, D. J.; Happee, R.; Tijssen, M. A. J.; Koelman, J. H. T. M.

In: Toxins, Vol. 9, No. 9, 2017, p. 256.

Research output: Scientific – peer-review › Article

 

Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family. / Nikkola, Elina; Ko, Arthur; Alvarez, Marcus; Cantor, Rita M.; Garske, Kristina; Kim, Elliot; Gee, Stephanie; Rodriguez, Alejandra; Muxel, Reinhard; Matikainen, Niina; Söderlund, Sanni; Motazacker, Mahdi M.; Borén, Jan; Lamina, Claudia; Kronenberg, Florian; Schneider, Wolfgang J.; Palotie, Aarno; Laakso, Markku; Taskinen, Marja-Riitta; Pajukanta, Päivi.

In: Atherosclerosis, Vol. 264, 2017, p. 58-66.

Research output: Scientific – peer-review › Article

 

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. / Novara, Francesca; Rinaldi, Berardo; Sisodiya, Sanjay M.; Coppola, Antonietta; Giglio, Sabrina; Stanzial, Franco; Benedicenti, Francesco; Donaldson, Alan; Andrieux, Joris; Stapleton, Rachel; Weber, Astrid; Reho, Paolo; van Ravenswaaij-Arts, Conny; Kerstjens-Frederikse, Wilhelmina S.; Vermeesch, Joris Robert; Devriendt, Koenraad; Bacino, Carlos A.; Delahaye, Andrée; maas, S. M.; Iolascon, Achille; Zuffardi, Orsetta.

In: European journal of human genetics, Vol. 25, No. 6, 2017, p. 694-701.

Research output: Scientific – peer-review › Article

 

An International External Validation Study of the 2014 European Society of Cardiology Guideline on Sudden Cardiac Death Prevention in Hypertrophic Cardiomyopathy (Evidence from HCM). / O’Mahony, Constantinos; Jichi, Fatima; Ommen, Steve R.; Christiaans, Imke; Arbustini, Eloisa; Garcia-Pavia, Pablo; Cecchi, Franco; Olivotto, Iacopo; Kitaoka, Hiroaki; Gotsman, Israel; Carr-White, Gerald; Mogensen, Jens; Antoniades, Loizos; Mohiddin, Saidi; Maurer, Mathew S.; Tang, Hak Chiaw; Geske, Jeffrey B.; Siontis, Konstantinos C.; Mahmoud, Karim; Vermeer, Alexa; Wilde, Arthur; Favalli, Valentina; Guttmann, Oliver; Gallego-Delgado, Maria; Dominguez, Fernando; Tanini, Ilaria; Kubo, Toru; Keren, Andre; Bueser, Teofila; Waters, Sarah; Issa, Issa F.; Malcolmson, James; Burns, Thomas; Sekhri, Neha; Hoeger, Christopher W.; Omar, Rumana Z.; Elliott, Perry M.

In: Circulation, 2017.

Research output: Scientific – peer-review › Article

 

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. / Oud, Machteld M.; Tuijnenburg, Paul; Hempel, Maja; van Vlies, Naomi; Ren, Zemin; Ferdinandusse, Sacha; Jansen, Machiel H.; Santer, René; Johannsen, Jessika; Bacchelli, Chiara; Alders, Marielle; Li, Rui; Davies, Rosalind; Dupuis, Lucie; Cale, Catherine M.; Wanders, Ronald J. A.; Pals, Steven T.; Ocaka, Louise; James, Chela; Müller, Ingo; Lehmberg, Kai; Strom, Tim; Engels, Hartmut; Williams, Hywel J.; Beales, Phil; Roepman, Ronald; Dias, Patricia; Brunner, Han G.; Cobben, Jan-Maarten; Hall, Christine; Hartley, Taila; Le Quesne Stabej, Polona; Mendoza-Londono, Roberto; Davies, E. Graham; de Sousa, Sérgio B.; Lessel, Davor; Arts, Heleen H.; Kuijpers, Taco W.

In: American journal of human genetics, Vol. 100, No. 2, 2017, p. 281-296.

Research output: Scientific – peer-review › Article

 

Iris Flocculi and Type B Aortic Dissection. / Overwater, Eline; Houweling, Arjan C.

In: Ophthalmology, Vol. 124, No. 11, 2017, p. 1711.

Research output: Scientific – peer-review › Editorial

 

NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield. / Overwater, E.; Floor, K.; van Beek, D.; de Boer, K.; van Dijk, T.; Hilhorst-Hofstee, Y.; Hoogeboom, A. J. M.; van Kaam, K. J.; van de Kamp, J. M.; Kempers, M.; Krapels, I. P. C.; Kroes, H. Y.; Loeys, B.; Salemink, S.; Stumpel, C. T. R. M.; Verhoeven, V. J. M.; Wijnands-van den Berg, E.; Cobben, J. M.; van Tintelen, J. P.; Weiss, M. M.; Houweling, A. C.; Maugeri, A.

In: European journal of medical genetics, Vol. 60, No. 9, 2017, p. 465-473.

Research output: Scientific – peer-review › Article

 

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. / Palmer, E. E.; Stuhlmann, T.; Weinert, S.; Haan, E.; van Esch, H.; Holvoet, M.; Boyle, J.; Leffler, M.; Raynaud, M.; Moraine, C.; van Bokhoven, H.; Kleefstra, T.; Kahrizi, K.; Najmabadi, H.; Ropers, H.-H.; Delgado, M. R.; Sirsi, D.; Golla, S.; Sommer, A.; Pietryga, M. P.; Chung, W. K.; Wynn, J.; Rohena, L.; Bernardo, E.; Hamlin, D.; Faux, B. M.; Grange, D. K.; Manwaring, L.; Tolmie, J.; Joss, S.; Cobben, J. M.; Duijkers, Floor A. M.; Goehringer, J. M.; Challman, T. D.; Hennig, F.; Fischer, U.; Grimme, A.; Suckow, V.; Musante, L.; Nicholl, J.; Shaw, M.; Lodh, S. P.; Niu, Z.; Rosenfeld, J. A.; Stankiewicz, P.; Jentsch, T. J.; Gecz, J.; Field, M.; Kalscheuer, V. M.

In: Molecular psychiatry, Vol. 23, No. 2, 2018, p. 222-230.

Research output: Scientific – peer-review › Article

 

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. / Phelan, Catherine M.; Kuchenbaecker, Karoline B.; Tyrer, Jonathan P.; Kar, Siddhartha P.; Lawrenson, Kate; Winham, Stacey J.; Dennis, Joe; Pirie, Ailith; Riggan, Marjorie J.; Chornokur, Ganna; Earp, Madalene A.; Lyra, Paulo C.; Lee, Janet M.; Coetzee, Simon; Beesley, Jonathan; McGuffog, Lesley; Soucy, Penny; Dicks, Ed; Lee, Andrew; Barrowdale, Daniel; Lecarpentier, Julie; Leslie, Goska; Aalfs, Cora M.; Aben, Katja K. H.; Adams, Marcia; Adlard, Julian; Andrulis, Irene L.; Anton-Culver, Hoda; Antonenkova, Natalia; Aravantinos, Gerasimos; Arnold, Norbert; Arun, Banu K.; Arver, Brita; Azzollini, Jacopo; Balmaña, Judith; Banerjee, Susana N.; Barjhoux, Laure; Barkardottir, Rosa B.; Bean, Yukie; Beckmann, Matthias W.; Beeghly-Fadiel, Alicia; Benitez, Javier; Bermisheva, Marina; Bernardini, Marcus Q.; Birrer, Michael J.; Bjorge, Line; Black, Amanda; Blankstein, Kenneth; Blok, Marinus J.; Bodelon, Clara; Bogdanova, Natalia; Bojesen, Anders; Bonanni, Bernardo; Borg, Åke; Bradbury, Angela R.; Brenton, James D.; Brewer, Carole; Brinton, Louise; Broberg, Per; Brooks-Wilson, Angela; Bruinsma, Fiona; Brunet, Joan; Buecher, Bruno; Butzow, Ralf; Buys, Saundra S.; Caldes, Trinidad; Caligo, Maria A.; Campbell, Ian; Cannioto, Rikki; Carney, Michael E.; Cescon, Terence; Chan, Salina B.; Chang-Claude, Jenny; Chanock, Stephen; Chen, Xiao Qing; Chiew, Yoke-Eng; Chiquette, Jocelyne; Chung, Wendy K.; Claes, Kathleen B. M.; Conner, Thomas; Cook, Linda S.; Cook, Jackie; Cramer, Daniel W.; Cunningham, Julie M.; D’Aloisio, Aimee A.; Daly, Mary B.; Damiola, Francesca; Damirovna, Sakaeva Dina; Dansonka-Mieszkowska, Agnieszka; Dao, Fanny; Davidson, Rosemarie; Defazio, Anna; Delnatte, Capucine; Doheny, Kimberly F.; Diez, Orland; Ding, Yuan Chun; Doherty, Jennifer Anne; Domchek, Susan M.; Dorfling, Cecilia M.; Dörk, Thilo; Dossus, Laure; Duran, Mercedes; Dürst, Matthias; Dworniczak, Bernd; Eccles, Diana; Edwards, Todd; Eeles, Ros; Eilber, Ursula; Ejlertsen, Bent; Ekici, Arif B.; Ellis, Steve; Elvira, Mingajeva; Eng, Kevin H.; Engel, Christoph; Evans, D. Gareth; Fasching, Peter A.; Ferguson, Sarah; Ferrer, Sandra Fert; Flanagan, James M.; Fogarty, Zachary C.; Fortner, Renée T.; Fostira, Florentia; Foulkes, William D.; Fountzilas, George; Fridley, Brooke L.; Friebel, Tara M.; Friedman, Eitan; Frost, Debra; Ganz, Patricia A.; Garber, Judy; García, María J.; Garcia-Barberan, Vanesa; Gehrig, Andrea; Gentry-Maharaj, Aleksandra; Gerdes, Anne-Marie; Giles, Graham G.; Glasspool, Rosalind; Glendon, Gord; Godwin, Andrew K.; Goldgar, David E.; Goranova, Teodora; Gore, Martin; Greene, Mark H.; Gronwald, Jacek; Gruber, Stephen; Hahnen, Eric; Haiman, Christopher A.; Håkansson, Niclas; Hamann, Ute; Hansen, Thomas V. O.; Harrington, Patricia A.; Harris, Holly R.; Hauke, Jan; Hein, Alexander; Henderson, Alex; Hildebrandt, Michelle A. T.; Hillemanns, Peter; Hodgson, Shirley; Høgdall, Claus K.; Høgdall, Estrid; Hogervorst, Frans B. L.; Holland, Helene; Hooning, Maartje J.; Hosking, Karen; Huang, Ruea-Yea; Hulick, Peter J.; Hung, Jillian; Hunter, David J.; Huntsman, David G.; Huzarski, Tomasz; Imyanitov, Evgeny N.; Isaacs, Claudine; Iversen, Edwin S.; Izatt, Louise; Izquierdo, Angel; Jakubowska, Anna; James, Paul; Janavicius, Ramunas; Jernetz, Mats; Jensen, Allan; Jensen, Uffe Birk; John, Esther M.; Johnatty, Sharon; Jones, Michael E.; Kannisto, Päivi; Karlan, Beth Y.; Karnezis, Anthony; Kast, Karin; Kennedy, Catherine J.; Khusnutdinova, Elza; Kiemeney, Lambertus A.; Kiiski, Johanna I.; Kim, Sung-Won; Kjaer, Susanne K.; Köbel, Martin; Kopperud, Reidun K.; Kruse, Torben A.; Kupryjanczyk, Jolanta; Kwong, Ava; Laitman, Yael; Lambrechts, Diether; Larrañaga, Nerea; Larson, Melissa C.; Lazaro, Conxi; Le, Nhu D.; Le Marchand, Loic; Lee, Jong Won; Lele, Shashikant B.; Leminen, Arto; Leroux, Dominique; Lester, Jenny; Lesueur, Fabienne; Levine, Douglas A.; Liang, Dong; Liebrich, Clemens; Lilyquist, Jenna; Lipworth, Loren; Lissowska, Jolanta; Lu, Karen H.; Lubinński, Jan; Luccarini, Craig; Lundvall, Lene; Mai, Phuong L.; Mendoza-Fandiño, Gustavo; Manoukian, Siranoush; Massuger, Leon F. A. G.; May, Taymaa; Mazoyer, Sylvie; McAlpine, Jessica N.; McGuire, Valerie; McLaughlin, John R.; McNeish, Iain; Meijers-Heijboer, Hanne; Meindl, Alfons; Menon, Usha; Mensenkamp, Arjen R.; Merritt, Melissa A.; Milne, Roger L.; Mitchell, Gillian; Modugno, Francesmary; Moes-Sosnowska, Joanna; Moffitt, Melissa; Montagna, Marco; Moysich, Kirsten B.; Mulligan, Anna Marie; Musinsky, Jacob; Nathanson, Katherine L.; Nedergaard, Lotte; Ness, Roberta B.; Neuhausen, Susan L.; Nevanlinna, Heli; Niederacher, Dieter; Nussbaum, Robert L.; Odunsi, Kunle; Olah, Edith; Olopade, Olufunmilayo I.; Olsson, Håkan; Olswold, Curtis; O’Malley, David M.; Ong, Kai-Ren; Onland-Moret, N. Charlotte; Orr, Nicholas; Orsulic, Sandra; Osorio, Ana; Palli, Domenico; Papi, Laura; Park-Simon, Tjoung-Won; Paul, James; Pearce, Celeste L.; Pedersen, Inge Søkilde; Peeters, Petra H. M.; Peissel, Bernard; Peixoto, Ana; Pejovic, Tanja; Pelttari, Liisa M.; Permuth, Jennifer B.; Peterlongo, Paolo; Pezzani, Lidia; Pfeiler, Georg; Phillips, Kelly-Anne; Piedmonte, Marion; Pike, Malcolm C.; Piskorz, Anna M.; Poblete, Samantha R.; Pocza, Timea; Poole, Elizabeth M.; Poppe, Bruce; Porteous, Mary E.; Prieur, Fabienne; Prokofyeva, Darya; Pugh, Elizabeth; Pujana, Miquel Angel; Pujol, Pascal; Radice, Paolo; Rantala, Johanna; Rappaport-Fuerhauser, Christine; Rennert, Gad; Rhiem, Kerstin; Rice, Patricia; Richardson, Andrea; Robson, Mark; Rodriguez, Gustavo C.; Rodríguez-Antona, Cristina; Romm, Jane; Rookus, Matti A.; Rossing, Mary Anne; Rothstein, Joseph H.; Rudolph, Anja; Runnebaum, Ingo B.; Salvesen, Helga B.; Sandler, Dale P.; Schoemaker, Minouk J.; Senter, Leigha; Setiawan, V. Wendy; Severi, Gianluca; Sharma, Priyanka; Shelford, Tameka; Siddiqui, Nadeem; Side, Lucy E.; Sieh, Weiva; Singer, Christian F.; Sobol, Hagay; Song, Honglin; Southey, Melissa C.; Spurdle, Amanda B.; Stadler, Zsofia; Steinemann, Doris; Stoppa-Lyonnet, Dominique; Sucheston-Campbell, Lara E.; Sukiennicki, Grzegorz; Sutphen, Rebecca; Sutter, Christian; Swerdlow, Anthony J.; Szabo, Csilla I.; Szafron, Lukasz; Tan, Yen Y.; Taylor, Jack A.; tea, Muy-Kheng; Teixeira, Manuel R.; teo, Soo-Hwang; Terry, Kathryn L.; Thompson, Pamela J.; Thomsen, Liv Cecilie Vestrheim; Thull, Darcy L.; Tihomirova, Laima; Tinker, Anna V.; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda Ewart; Tone, Alicia; Trabert, Britton; Travis, Ruth C.; Trichopoulou, Antonia; Tung, Nadine; Tworoger, Shelley S.; van Altena, Anne M.; van den Berg, David; van der Hout, Annemarie H.; van der Luijt, Rob B.; van Heetvelde, Mattias; van Nieuwenhuysen, Els; van Rensburg, Elizabeth J.; Vanderstichele, Adriaan; Varon-Mateeva, Raymonda; Vega, Ana; Edwards, Digna Velez; Vergote, Ignace; Vierkant, Robert A.; Vijai, Joseph; Vratimos, Athanassios; Walker, Lisa; Walsh, Christine; Wand, Dorothea; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Webb, Penelope M.; Weinberg, Clarice R.; Weitzel, Jeffrey N.; Wentzensen, Nicolas; Whittemore, Alice S.; Wijnen, Juul T.; Wilkens, Lynne R.; Wolk, Alicja; Woo, Michelle; Wu, Xifeng; Wu, Anna H.; Yang, Hannah; Yannoukakos, Drakoulis; Ziogas, Argyrios; Zorn, Kristin K.; Narod, Steven A.; Easton, Douglas F.; Amos, Christopher I.; Schildkraut, Joellen M.; Ramus, Susan J.; Ottini, Laura; Goodman, Marc T.; Park, Sue K.; Kelemen, Linda E.; Risch, Harvey A.; Thomassen, Mads; Offit, Kenneth; Simard, Jacques; Schmutzler, Rita Katharina; Hazelett, Dennis; Monteiro, Alvaro N.; Couch, Fergus J.; Berchuck, Andrew; Chenevix-Trench, Georgia; Goode, Ellen L.; Sellers, Thomas A.; Gayther, Simon A.; Antoniou, Antonis C.; Pharoah, Paul D. P.

In: Nature genetics, Vol. 49, No. 5, 2017, p. 680-691.

Research output: Scientific – peer-review › Article

 

Large Genomic Rearrangements of Desmosomal Genes in Italian Arrhythmogenic Cardiomyopathy Patients. / Pilichou, Kalliopi; Lazzarini, Elisabetta; Rigato, Ilaria; Celeghin, Rudy; de Bortoli, Marzia; Perazzolo Marra, Marina; Cason, Marco; Jongbloed, Jan; Calore, Martina; Rizzo, Stefania; Regazzo, Daniela; Poloni, Giulia; Iliceto, Sabino; Daliento, Luciano; Delise, Pietro; Corrado, Domenico; van Tintelen, J. Peter; Thiene, Gaetano; Rampazzo, Alessandra; Basso, Cristina; Bauce, Barbara; Lorenzon, Alessandra; Occhi, Gianluca.

In: Circulation. Arrhythmia and electrophysiology, Vol. 10, No. 10, 2017.

Research output: Scientific – peer-review › Article

 

Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS): protocol for a prospective, observational, multicentre study. / Postema, Floor A. M.; Hopman, Saskia M. J.; de Borgie, Corianne A. J. M.; Hammond, Peter; Hennekam, Raoul C.; Merks, Johannes H. M.; Aalfs, Cora M.; Anninga, Jakob K.; Berger, Lieke Pv; Bleeker, Fonnet E.; de Bont, Eveline Sjm; Dommering, Charlotte J.; van Eijkelenburg, Natasha Ka; van den Heuvel-Eibrink, Marry M.; Jongmans, Marjolijn Cj; Kors, Wijnanda A.; Letteboer, Tom Gw; Loeffen, Jan Lcm; Olderode-Berends, Maran Jw; Wagner, Anja.

In: BMJ open, Vol. 7, No. 1, 2017, p. e013237.

Research output: Scientific – peer-review › Article

 

Childhood tumours with a high probability of being part of a tumour predisposition syndrome; reason for referral for genetic consultation. / Postema, Floor A. M.; Hopman, Saskia M. J.; Aalfs, Cora M.; Berger, Lieke P. V.; Bleeker, Fonnet E.; Dommering, Charlotte J.; Jongmans, Marjolijn C. J.; Letteboer, Tom G. W.; Olderode-Berends, Maran J. W.; Wagner, Anja; Hennekam, Raoul C.; Merks, Johannes H. M.

In: European journal of cancer (Oxford, England, Vol. 80, 2017, p. 48-54.

Research output: Scientific – peer-review › Review article

 

Consequences of diagnosing a tumor predisposition syndrome in children with cancer: A literature review. / Postema, Floor A. M.; Hopman, Saskia M. J.; Hennekam, Raoul C.; Merks, Johannes H. M.

In: Pediatric blood & cancer, Vol. 65, No. 1, 2018.

Research output: Scientific – peer-review › Article

 

Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy. / Ross, Samantha Barratt; Bagnall, Richard D.; Ingles, Jodie; van Tintelen, J. Peter; Semsarian, Christopher.

In: Circulation. Cardiovascular genetics, Vol. 10, No. 3, 2017, p. UNSP e001671.

Research output: Scientific – peer-review › Article

 

Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients. / Severino-Freire, Maella; Maza, Aude; Lombardi, Maria Paola; Tournier, Emilie; Chassaing, Nicolas; Mazereeuw-Hautier, Juliette.

In: Acta dermato-venereologica, Vol. 97, No. 7, 2017, p. 853-854.

Research output: Scientific – peer-review › Editorial

 

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer. / Shimelis, Hermela; Mesman, Romy L. S.; Von Nicolai, Catharina; Ehlen, Asa; Guidugli, Lucia; Martin, Charlotte; Calléja, Fabienne M. G. R.; Meeks, Huong; Hallberg, Emily; Hinton, Jamie; Lilyquist, Jenna; Hu, Chunling; Aalfs, Cora M.; Aittomäki, Kristiina; Andrulis, Irene; Anton-Culver, Hoda; Arndt, Volker; Beckmann, Matthias W.; Benitez, Javier; Bogdanova, Natalia V.; Bojesen, Stig E.; Bolla, Manjeet K.; Borresen-Dale, Anne-Lise; Brauch, Hiltrud; Brennan, Paul; Brenner, Hermann; Broeks, Annegien; Brouwers, Barbara; Brüning, Thomas; Burwinkel, Barbara; Chang-Claude, Jenny; Chenevix-Trench, Georgia; Cheng, Ching-Yu; Choi, Ji-Yeob; Collée, J. Margriet; Cox, Angela; Cross, Simon S.; Czene, Kamila; Darabi, Hatef; Dennis, Joe; Dörk, Thilo; Dos-Santos-Silva, Isabel; Dunning, Alison M.; Fasching, Peter A.; Figueroa, Jonine; Flyger, Henrik; García-Closas, Montserrat; Giles, Graham G.; Glendon, Gord; Guénel, Pascal; Haiman, Christopher A.; Hall, Per; Hamann, Ute; Hartman, Mikael; Hogervorst, Frans B.; Hollestelle, Antoinette; Hopper, John L.; Ito, Hidemi; Jakubowska, Anna; Kang, Daehee; Kosma, Veli-Matti; Kristensen, Vessela; Lai, Kah-Nyin; Lambrechts, Diether; Marchand, Loic Le; Li, Jingmei; Lindblom, Annika; Lophatananon, Artitaya; Lubinski, Jan; Machackova, Eva; Mannermaa, Arto; Margolin, Sara; Marme, Frederik; Matsuo, Keitaro; Miao, Hui; Michailidou, Kyriaki; Milne, Roger L.; Muir, Kenneth; Neuhausen, Susan L.; Nevanlinna, Heli; Olson, Janet E.; Olswold, Curtis; Oosterwijk, Jan J. C.; Osorio, Ana; Peterlongo, Paolo; Peto, Julian; Pharoah, Paul D. P.; Pylkäs, Katri; Radice, Paolo; Rashid, Muhammad Usman; Rhenius, Valerie; Rudolph, Anja; Sangrajrang, Suleeporn; Sawyer, Elinor J.; Schmidt, Marjanka K.; Schoemaker, Minouk J.; Seynaeve, Caroline; Shah, Mitul; Shen, Chen-Yang; Shrubsole, Martha; Shu, Xiao-Ou; Slager, Susan; Southey, Melissa C.; Stram, Daniel O.; Swerdlow, Anthony; teo, Soo H.; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; van Asperen, Christi J.; van der Kolk, Lizet E.; Wang, Qin; Winqvist, Robert; Wu, Anna H.; Yu, Jyh-Cherng; Zheng, Wei; Zheng, Ying; Leary, Jennifer; Walker, Logan; Foretova, Lenka; Fostira, Florentia; Claes, Kathleen B. M.; Varesco, Liliana; Moghadasi, Setareh; Easton, Douglas F.; Spurdle, Amanda; Devilee, Peter; Vrieling, Harry; Monteiro, Alvaro N. A.; Goldgar, David E.; Carreira, Aura; Vreeswijk, Maaike P. G.; Couch, Fergus J.

In: Cancer research, Vol. 77, No. 11, 2017, p. 2789-2799.

Research output: Scientific – peer-review › Article

 

Plasma lipoprotein(a) levels in patients with homozygous autosomal dominant hypercholesterolemia. / Sjouke, Barbara; Yahya, Reyhana; Tanck, Michael W. T.; Defesche, Joep C.; de Graaf, Jacqueline; Wiegman, Albert; Kastelein, John J. P.; Mulder, Monique T.; Hovingh, G. Kees; Roeters van Lennep, Jeanine E.

In: Journal of clinical lipidology, Vol. 11, No. 2, 2017, p. 507-514.

Research output: Scientific – peer-review › Article

 

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis. / Smith, Bradley N.; Topp, Simon D.; Fallini, Claudia; Shibata, Hideki; Chen, Han-Jou; Troakes, Claire; King, Andrew; Ticozzi, Nicola; Kenna, Kevin P.; Soragia-Gkazi, Athina; Miller, Jack W.; Sato, Akane; Dias, Diana Marques; Jeon, Maryangel; Vance, Caroline; Wong, Chun Hao; de Majo, Martina; Kattuah, Wejdan; Mitchell, Jacqueline C.; Scotter, Emma L.; Parkin, Nicholas W.; Sapp, Peter C.; Nolan, Matthew; Nestor, Peter J.; Simpson, Michael; Weale, Michael; Lek, Monkel; Baas, Frank; Vianney de Jong, J. M.; ten Asbroek, Anneloor L. M. A.; Redondo, Alberto Garcia; Esteban-Pérez, Jesús; Tiloca, Cinzia; Verde, Federico; Duga, Stefano; Leigh, Nigel; Pall, Hardev; Morrison, Karen E.; Al-Chalabi, Ammar; Shaw, Pamela J.; Kirby, Janine; Turner, Martin R.; Talbot, Kevin; Hardiman, Orla; Glass, Jonathan D.; de Belleroche, Jacqueline; Maki, Masatoshi; Moss, Stephen E.; Miller, Christopher; Gellera, Cinzia; Ratti, Antonia; Al-Sarraj, Safa; Brown, Robert H.; Silani, Vincenzo; Landers, John E.; Shaw, Christopher E.

In: Science translational medicine, Vol. 9, No. 388, 2017, p. eaad9157.

Research output: Scientific – peer-review › Article

 

Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations. / Soblet, Julie; Kangas, Jaakko; Nätynki, Marjut; Mendola, Antonella; Helaers, Raphaël; Uebelhoer, Melanie; Kaakinen, Mika; Cordisco, Maria; Dompmartin, Anne; Enjolras, Odile; Holden, Simon; Irvine, Alan D.; Kangesu, Loshan; Léauté-Labrèze, Christine; Lanoel, Agustina; Lokmic, Zerina; Maas, Saskia; McAleer, Maeve A.; Penington, Anthony; Rieu, Paul; Syed, Samira; van der Vleuten, Carine; Watson, Rosemarie; Fishman, Steven J.; Mulliken, John B.; Eklund, Lauri; Limaye, Nisha; Boon, Laurence M.; Vikkula, Miikka.

In: Journal of investigative dermatology, Vol. 137, No. 1, 2017, p. 207-216.

Research output: Scientific – peer-review › Article

 

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders. / Sollis, Elliot; Deriziotis, Pelagia; Saitsu, Hirotomo; Miyake, Noriko; Matsumoto, Naomichi; Hoffer, Mariette J. V.; Ruivenkamp, Claudia A. L.; Alders, Mariëlle; Okamoto, Nobuhiko; Bijlsma, Emilia K.; Plomp, Astrid S.; Fisher, Simon E.

In: Human mutation, Vol. 38, No. 11, 2017, p. 1542-1554.

Research output: Scientific – peer-review › Article

 

Genetic Analyses in Small for Gestational Age Newborns. / Stalman, Susanne E.; Solanky, Nita; Ishida, Miho; Alemán-Charlet, Cristina; Abu-Amero, Sayeda; Alders, Marielle; Alvizi, Lucas; Baird, William; Demetriou, Charalambos; Henneman, Peter; James, Chela; Knegt, Lia C.; Leon, Lydia J.; Mannens, Marcel M. A. M.; Mul, Adi N.; Nibbering, Nicole A.; Peskett, Emma; Rezwan, Faisal I.; Ris-Stalpers, Carrie; van der Post, Joris A. M.; Kamp, Gerdine A.; Plötz, Frans B.; Wit, Jan M.; Stanier, Philip; Moore, Gudrun E.; Hennekam, Raoul C.

In: Journal of clinical endocrinology and metabolism, 2018.

Research output: Scientific – peer-review › Article

 

Yield and pitfalls of ajmaline testing in the evaluation of unexplained cardiac arrest and sudden unexplained death: Single centre experience of 482 families. / Tadros, Rafik; Nannenberg, Eline A.; Lieve, Krystien V. V.; Skoric-Milosavljevic, Doris; Lahrouchi, Najim; Lekanne Dit Deprez, Ronald H.; Vendrik, Jeroen; Reckman, Yolan J. K.; Postema, Pieter G.; Amin, Ahmad S.; Bezzina, Connie; Wilde, Arthur A. M.; Tan, Hanno L.

In: Journal of the American College of Cardiology Clinical Electrophysiology, 2017.

Research output: Scientific – peer-review › Article

 

Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study. / Talib, Mays; van Schooneveld, Mary J.; van Genderen, Maria M.; Wijnholds, Jan; Florijn, Ralph J.; ten Brink, Jacoline B.; Schalij-Delfos, Nicoline E.; Dagnelie, Gislin; Cremers, Frans P. M.; Wolterbeek, Ron; Fiocco, Marta; Thiadens, Alberta A.; Hoyng, Carel B.; Klaver, Caroline C.; Bergen, Arthur A.; Boon, Camiel J. F.

In: Ophthalmology, Vol. 124, No. 6, 2017, p. 884-895.

Research output: Scientific – peer-review › Article

 

SNP association study in PMS2-associated Lynch syndrome. / ten Broeke, Sanne W.; Elsayed, Fadwa A.; Pagan, Lisa; Olderode-Berends, Maran J. W.; Garcia, Encarna Gomez; Gille, Hans J. P.; van Hest, Liselot P.; Letteboer, Tom G. W.; van der Kolk, Lizet E.; Mensenkamp, Arjen R.; van Os, Theo A.; Spruijt, Liesbeth; Redeker, Bert J. W.; Suerink, Manon; Vos, Yvonne J.; Wagner, Anja; Wijnen, Juul T.; Steyerberg, E. W.; Tops, Carli M. J.; van Wezel, Tom; Nielsen, Maartje.

In: Familial cancer, 2017.

Research output: Scientific – peer-review › Article

 

Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis. / te Riele, Anneline S. J. M.; Agullo-Pascual, Esperanza; James, Cynthia A.; Leo-Macias, Alejandra; Cerrone, Marina; Zhang, Mingliang; Lin, Xianming; Lin, Bin; Sobreira, Nara L.; Amat-Alarcon, Nuria; Marsman, Roos F.; Murray, Brittney; Tichnell, Crystal; van der Heijden, Jeroen F.; Dooijes, Dennis; van Veen, Toon A. B.; Tandri, Harikrishna; Fowler, Steven J.; Hauer, Richard N. W.; Tomaselli, Gordon; van den Berg, Maarten P.; Taylor, Matthew R. G.; Brun, Francesca; Sinagra, Gianfranco; Wilde, Arthur A. M.; Mestroni, Luisa; Bezzina, Connie R.; Calkins, Hugh; van Tintelen, J. Peter; Bu, Lei; Delmar, Mario; Judge, Daniel P.

In: Cardiovascular research, Vol. 113, No. 1, 2017, p. 102-111.

Research output: Scientific – peer-review › Article

 

Phospholamban immunostaining is a highly sensitive and specific method for diagnosing phospholamban p.Arg14del cardiomyopathy. / te Rijdt, Wouter P.; van der Klooster, Z. Joy; Hoorntje, Edgar T.; Jongbloed, Jan D. H.; van der Zwaag, Paul A.; Asselbergs, Folkert W.; Dooijes, Dennis; de Boer, Rudolf A.; van Tintelen, J. Peter; van den Berg, Maarten P.; Vink, Aryan; Suurmeijer, Albert J. H.

In: Cardiovascular pathology, Vol. 30, 2017, p. 23-26.

Research output: Scientific – peer-review › Article

 

Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, enteropathy, and Mild eczema Caused by a Classical FOXP3 Mutation. / Tuijnenburg, Paul; Cuadrado, Eloy; Bosch, Annet M.; Kindermann, Angelika; Jansen, Machiel H.; Alders, Marielle; van Leeuwen, Ester M. M.; Kuijpers, Taco W.

In: Frontiers in pediatrics, Vol. 5, 2017, p. 37.

Research output: Scientific – peer-review › Article

 

Comparing methods for fetal fraction determination and quality control of NIPT samples. / van Beek, Daphne M.; Straver, Roy; Weiss, Marian M.; Boon, Elles M. J.; Huijsdens-van Amsterdam, Karin; Oudejans, Cees B. M.; Reinders, Marcel J. T.; Sistermans, Erik A.

In: Prenatal diagnosis, Vol. 37, No. 8, 2017, p. 769-773.

Research output: Scientific – peer-review › Article

 

Response to letter to the editor PD-17-0390, a comment on “Comparing methods for fetal fraction determination and quality control of NIPT samples”. / van Beek, Daphne M.; Straver, Roy; Weiss, Marjan M.; Boon, Elles M. J.; Huijsdens-van Amsterdam, Karin; Oudejans, Cees B. M.; Reinders, Marcel J. T.; Sistermans, Erik A.

In: Prenatal diagnosis, Vol. 37, No. 12, 2017, p. 1266-1267.

Research output: Scientific › Comment/Letter to the editor

 

A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects. / van der Linde, I. H. M.; Hiemstra, Y. L.; Bökenkamp, R.; van Mil, A. M.; Breuning, M. H.; Ruivenkamp, C.; ten Broeke, S. W.; Veldkamp, R. F.; van Waning, J. I.; van Slegtenhorst, M. A.; van Spaendonck-Zwarts, K. Y.; Lekanne Deprez, R. H.; Herkert, J. C.; Boven, L.; van der Zwaag, P. A.; Jongbloed, J. D. H.; Bootsma, M.; Barge-Schaapveld, D. Q. C. M.

In: Netherlands heart journal, Vol. 25, No. 12, 2017, p. 675-681.

Research output: Scientific – peer-review › Article

 

RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy? / van Dijk, Tessa; van Ruissen, Fred; Jaeger, Bregje; Rodenburg, Richard J.; Tamminga, Saskia; van Maarle, Merel; Baas, Frank; Wolf, Nicole I.; Poll-The, Bwee Tien.

In: JIMD reports, Vol. 33, 2017, p. 87-92.

Research output: Scientific – peer-review › Article

 

Neuroblastoma is composed of two super-enhancer-associated differentiation states. / van Groningen, Tim; Koster, Jan; Valentijn, Linda J.; Zwijnenburg, Danny A.; Akogul, Nurdan; Hasselt, Nancy E.; Broekmans, Marloes; Haneveld, Franciska; Nowakowska, Natalia E.; Bras, Johannes; van Noesel, Carel J. M.; Jongejan, Aldo; van Kampen, Antoine H.; Koster, Linda; Baas, Frank; van Dijk-Kerkhoven, Lianne; Huizer-Smit, Margriet; Lecca, Maria C.; Chan, Alvin; Lakeman, Arjan; Molenaar, Piet; Volckmann, Richard; Westerhout, Ellen M.; Hamdi, Mohamed; van Sluis, Peter G.; Ebus, Marli E.; Molenaar, Jan J.; Tytgat, Godelieve A.; Westerman, Bart A.; van Nes, Johan; Versteeg, Rogier.

In: Nature genetics, Vol. 49, No. 8, 2017, p. 1261-1266.

Research output: Scientific – peer-review › Article

 

NTCP deficiency and persistently raised bile salts: an adult case. / van Herpe, Filip; Waterham, Hans R.; Adams, Christopher J.; Mannens, Marcel; Bikker, Hennie; Vaz, Frédéric M.; Cassiman, David.

In: Journal of inherited metabolic disease, Vol. 40, No. 3, 2017, p. 313-315.

Research output: Scientific › Comment/Letter to the editor

 

Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing. / van Kuilenburg, André B. P.; Meijer, Judith; Mauer, Dirk; Dobritzsch, Doreen; Meinsma, Rutger; Los, Maartje; Knegt, Lia C.; Zoetekouw, Lida; Jansen, Rob L. H.; Dezentjé, Vincent; van Huis-Tanja, Lieke H.; van Kampen, Roel J. W.; Hertz, Jens Michael; Hennekam, Raoul C. M.

In: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, Vol. 1863, No. 3, 2017, p. 721-730.

Research output: Scientific – peer-review › Article

 

Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study. / van Opstal, Diane; van Maarle, Merel C.; Lichtenbelt, Klaske; Weiss, Marjan M.; Schuring-Blom, Heleen; Bhola, Shama L.; Hoffer, Mariette J. V.; Huijsdens-van Amsterdam, Karin; Macville, Merryn V.; Kooper, Angelique J. A.; Faas, Brigitte H. W.; Govaerts, Lutgarde; Tan-Sindhunata, Gita M.; den Hollander, Nicolette; Feenstra, Ilse; Galjaard, Robert-Jan H.; Oepkes, Dick; Ghesquiere, Stijn; Brouwer, Rutger W. W.; Beulen, Lean; Bollen, Sander; Elferink, Martin G.; Straver, Roy; Henneman, Lidewij; Page-Christiaens, Godelieve C.; Sistermans, Erik A.

In: Genetics in medicine, 2017.

Research output: Scientific – peer-review › Article

 

Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations. / van Paassen, Barbara W.; Bronk, Marieke; Verhamme, Camiel; van Ruissen, Fred; Baas, Frank; van Spaendonck-Zwarts, Karin Y.; de Visser, Marianne.

In: Journal of the peripheral nervous system, Vol. 22, No. 4, 2017, p. 464-467.

Research output: Scientific – peer-review › Article

 

Women’s Experience with Non-Invasive Prenatal Testing and Emotional Well-being and Satisfaction after Test-Results. / van Schendel, Rachèl V.; Page-Christiaens, G. C. M. Lieve; Beulen, Lean; Bilardo, Caterina M.; de Boer, Marjon A.; Coumans, Audrey B. C.; Faas, Brigitte H. W.; van Langen, Irene M.; Lichtenbelt, Klaske D.; van Maarle, Merel C.; Macville, Merryn V. E.; Oepkes, Dick; Pajkrt, Eva; Henneman, Lidewij.

In: Journal of genetic counseling, Vol. 26, No. 6, 2017, p. 1348-1356.

Research output: Scientific – peer-review › Article

 

LONG-TERM FOLLOW-UP OF PATIENTS WITH CHOROIDEREMIA WITH SCLERAL PITS AND TUNNELS AS A NOVEL OBSERVATION. / van Schuppen, Sanne M.; Talib, Mays; Bergen, Arthur A.; ten Brink, Jacoline B.; Florijn, Ralph J.; Boon, Camiel J. F.; van Schooneveld, Mary J.

In: Retina (Philadelphia, Pa.), 2017.

Research output: Scientific – peer-review › Article

 

Isolated Subepicardial Right Ventricular Outflow Tract Scar in Athletes With Ventricular Tachycardia. / Venlet, Jeroen; Piers, Sebastiaan R. D.; Jongbloed, Jan D. H.; Androulakis, Alexander F. A.; Naruse, Yoshihisa; den Uijl, Dennis W.; Kapel, Gijsbert F. L.; de Riva, Marta; van Tintelen, J. Peter; Barge-Schaapveld, Daniela Q. C. M.; Schalij, Martin J.; Zeppenfeld, Katja.

In: Journal of the American College of Cardiology, Vol. 69, No. 5, 2017, p. 497-507.

Research output: Scientific – peer-review › Article

 

Penetrance of Hypertrophic Cardiomyopathy in Children Who Are Mutation Positive. / Vermeer, Alexa M. C.; Clur, Sally-Ann B.; Blom, Nico A.; Wilde, Arthur A. M.; Christiaans, Imke.

In: Journal of pediatrics, Vol. 188, 2017, p. 91-95.

Research output: Scientific – peer-review › Article

 

Transthyretin amyloidosis: a phenocopy of hypertrophic cardiomyopathy. / Vermeer, Alexa M. C.; Janssen, Anneloes; Boorsma, Peter C.; Mannens, Marcel M. A. M.; Wilde, Arthur A. M.; Christiaans, Imke.

In: Amyloid : the international journal of experimental and clinical investigation, Vol. 24, No. 2, 2017, p. 87-91.

Research output: Scientific – peer-review › Article

 

Familial Disease Is Not Always Genetic: A Family With Atrioventricular Block and Mitral Regurgitation. / Vermeer, Alexa M.; Lodder, Elisabeth M.; Christiaans, Imke; van Langen, Irene M.; Wilde, Arthur A.; Bezzina, Connie R.; Tadros, Rafik.

In: Canadian journal of cardiology, Vol. 33, No. 4, 2017, p. 554.e9-554.e11.

Research output: Scientific – peer-review › Article

 

Effect of Age and Sex on the QTc Interval in Children and Adolescents With Type 1 and 2 Long-QT Syndrome. / Vink, Arja S.; Clur, Sally-Ann B.; Geskus, Ronald B.; Blank, Andreas C.; de Kezel, Charlotte C. A.; Yoshinaga, Masao; Hofman, Nynke; Wilde, Arthur A. M.; Blom, Nico A.

In: Circulation. Arrhythmia and electrophysiology, Vol. 10, No. 4, 2017, p. e004645.

Research output: Scientific – peer-review › Article

 

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing. / Vogelaar, Ingrid P.; van der Post, Rachel S.; van Krieken, J. Han Jm; Spruijt, Liesbeth; van Zelst-Stams, Wendy Ag; Kets, C. Marleen; Lubinski, Jan; Jakubowska, Anna; Teodorczyk, Urszula; Aalfs, Cora M.; van Hest, Liselotte P.; Pinheiro, Hugo; Oliveira, Carla; Jhangiani, Shalini N.; Muzny, Donna M.; Gibbs, Richard A.; Lupski, James R.; de Ligt, Joep; Vissers, Lisenka E. L. M.; Hoischen, Alexander; Gilissen, Christian; van de Vorst, Maartje; Goeman, Jelle J.; Schackert, Hans K.; Ranzani, Guglielmina N.; Molinaro, Valeria; Gómez García, Encarna B.; Hes, Frederik J.; Holinski-Feder, Elke; Genuardi, Maurizio; Ausems, Margreet G. E. M.; Sijmons, Rolf H.; Wagner, Anja; van der Kolk, Lizet E.; Bjørnevoll, Inga; Høberg-Vetti, Hildegunn; van Kessel, Ad Geurts; Kuiper, Roland P.; Ligtenberg, Marjolijn J. L.; Hoogerbrugge, Nicoline.

In: European journal of human genetics, Vol. 25, No. 11, 2017, p. 1246-1252.

Research output: Scientific – peer-review › Article

 

Diagnosis and management of Silver-Russell syndrome: first international consensus statement. / Wakeling, Emma L.; Brioude, Frédéric; Lokulo-Sodipe, Oluwakemi; O’Connell, Susan M.; Salem, Jennifer; Bliek, Jet; Canton, Ana P. M.; Chrzanowska, Krystyna H.; Davies, Justin H.; Dias, Renuka P.; Dubern, Béatrice; Elbracht, Miriam; Giabicani, Eloise; Grimberg, Adda; Grønskov, Karen; Hokken-Koelega, Anita C. S.; Jorge, Alexander A.; Kagami, Masayo; Linglart, Agnes; Maghnie, Mohamad; Mohnike, Klaus; Monk, David; Moore, Gudrun E.; Murray, Philip G.; Ogata, Tsutomu; Petit, Isabelle Oliver; Russo, Silvia; Said, Edith; Toumba, Meropi; Tümer, Zeynep; Binder, Gerhard; Eggermann, Thomas; Harbison, Madeleine D.; Temple, I. Karen; Mackay, Deborah J. G.; Netchine, Irène.

In: Nature reviews. Endocrinology, Vol. 13, No. 2, 2017, p. 105-124.

Research output: Scientific – peer-review › Article

 

Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility. / Weren, Robbert D. A.; van der Post, Rachel S.; Vogelaar, Ingrid P.; van Krieken, J. Han; Spruijt, Liesbeth; Lubinski, Jan; Jakubowska, Anna; Teodorczyk, Urszula; Aalfs, Cora M.; van Hest, Liselotte P.; Oliveira, Carla; Kamping, Eveline J.; Schackert, Hans K.; Ranzani, Guglielmina N.; Gómez García, Encarna B.; Hes, Frederik J.; Holinski-Feder, Elke; Genuardi, Maurizio; Ausems, Margreet G. E. M.; Sijmons, Rolf H.; Wagner, Anja; van der Kolk, Lizet E.; Cats, Annemieke; Bjørnevoll, Inga; Hoogerbrugge, Nicoline; Ligtenberg, Marjolijn J. L.

In: Journal of medical genetics, 2018.

Research output: Scientific – peer-review › Article

 

Transdifferentiation of Human Dermal Fibroblasts to Smooth Muscle-Like Cells to Study the Effect of MYH11 and ACTA2 Mutations in Aortic Aneurysms. / Yeung, Kak K.; Bogunovic, Natalija; Keekstra, Niels; Beunders, Adriaan A. M.; Pals, Jorrit; van der Kuij, Kim; Overwater, Eline; Wisselink, Willem; Blankensteijn, Jan D.; van Hinsbergh, Victor W. M.; Musters, Rene J. P.; Pals, Gerard; Micha, Dimitra; Zandieh-Doulabi, Behrouz.

In: Human mutation, Vol. 38, No. 4, 2017, p. 439-450.

Research output: Scientific – peer-review › Article

 

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands. / Zazo Seco, Celia; Wesdorp, Mieke; Feenstra, Ilse; Pfundt, Rolph; Hehir-Kwa, Jayne Y.; Lelieveld, Stefan H.; Castelein, Steven; Gilissen, Christian; de Wijs, Ilse J.; Admiraal, Ronald J. C.; Pennings, Ronald J. E.; Kunst, Henricus P. M.; van de Kamp, Jiddeke M.; Tamminga, Saskia; Houweling, Arjan C.; Plomp, Astrid S.; Maas, Saskia M.; de Koning Gans, Pia A. M.; Kant, Sarina G.; de Geus, Christa M.; Frints, Suzanna G. M.; Vanhoutte, Els K.; van Dooren, Marieke F.; van den Boogaard, Marie-José H.; Scheffer, Hans; Nelen, Marcel; Kremer, Hannie; Hoefsloot, Lies; Schraders, Margit; Yntema, Helger G.

In: European journal of human genetics, Vol. 25, No. 3, 2017, p. 308-314.

Research output: Scientific – peer-review › Article

 

Variants in KAT6A and pituitary anomalies. / Zwaveling-Soonawala, Nitash; Maas, Saskia M.; Alders, Marielle; Majoie, Charles B.; Fliers, Eric; van Trotsenburg, A. S. Paul; Hennekam, Raoul C. M.

In: American journal of medical genetics. Part A, Vol. 173, No. 9, 2017, p. 2562-2565.

Research output: Scientific – peer-review › Article

 

Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome by Exome Sequencing in 20 Patients. / Zwaveling-Soonawala, Nitash; Alders, Marielle; Jongejan, Aldo; Kovacic, Lidija; Duijkers, Floor A.; Maas, Saskia M.; Fliers, Eric; van Trotsenburg, A. S. Paul; Hennekam, Raoul C.

In: Journal of clinical endocrinology and metabolism, 2017.

Research output: Scientific – peer-review › Article

 

The above report is produced using the following setup
Ordered by: 1st author