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Cell, ISSN 0092-8674, 2008, Volume 135, Issue 1, pp. 37 - 48
Journal Article
Human mutation, ISSN 1059-7794, 2013, Volume 34, Issue 11, pp. 1519 - 1528
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2019, Volume 21, Issue 10, pp. 2303 - 2310
Exome sequencing (ES) is an efficient tool to diagnose genetic disorders postnatally. Recent studies show that it may have a considerable diagnostic yield in... 
fetal anomalies | parental counseling | exome sequencing | clinical impact | perinatal management
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 09/2019, Volume 21, Issue 9, pp. 2159 - 2164
The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.)... 
Journal Article
Journal Article
Journal Article
by van der Sluijs, Eline and Jansen, Sana and Vergano, Samantha A and Adachi-Fukuda, Miho and Alanay, Yasemin and AlKindy, Adila and Baban, Anwar and Bayat, Allan and Beck-Wödl, Stefanie and Berry, Katherine and Bijlsma, Emilia K and Bok, Levinus A and Brouwer, Alwin F. J and van der Burgt, Ineke and Campeau, Philippe M and Canham, Natalie and Chrzanowska, Krystyna and Chu, Yoyo W. Y and Chung, Brain H. Y and Dahan, Karin and de Rademaeker, Marjan and Destree, Anne and Dudding-Byth, Tracy and Earl, Rachel and Elcioglu, Nursel and Elias, Ellen R and Fagerberg, Christina and Gardham, Alice and Gener, Blanca and Gerkes, Erica H and Grasshoff, Ute and van Haeringen, Arie and Heitink, Karin R and Herkert, Johanna C and den Hollander, Nicolette S and Horn, Denise and Hunt, David and Kant, Sarina G and Kato, Mitsuhiro and Kayserili, H. lya and Kersseboom, Rogier and Kilic, Esra and Krajewska-Walasek, Malgorzata and Lammers, Kylin and Laulund, Lone W and Lederer, Damien and Lees, Melissa and López-González, Vanesa and Maas, Saskia and Mancini, Grazia M. S and Marcelis, Carlo and Martinez, Francisco and Maystadt, Isabelle and McGuire, Marianne and McKee, Shane and Mehta, Sarju and Metcalfe, Kay and Milunsky, Jeff and Mizuno, Seiji and Moeschler, John B and Netzer, Christian and Ockeloen, Charlotte W and Oehl-Jaschkowitz, Barbara and Okamoto, Nobuhiko and Olminkhof, Sharon N. M and Orellana, Carmen and Pasquier, Laurent and Pottinger, Caroline and Riehmer, Vera and Robertson, Stephen P and Roifman, Maian and Rooryck, Caroline and Ropers, Fabienne G and Rosello, Monica and Ruivenkamp, Claudia A. L and Sagiroglu, Mahmut S and Sallevelt, Suzanne C. E. H and Sanchis Calvo, Amparo and Simsek-Kiper, Pelin O and Soares, Gabriela and Solaeche, Lucia and Mujgan Sonmez, Fatma and Splitt, Miranda and Steenbeek, Duco and Stegmann, Alexander P. A and Stumpel, Constance T. R. M and Tanabe, Saori and Uctepe, Eyyup and Utine, G. Eda and Veenstra-Knol, Hermine E and Venkateswaran, Sunita and Vilain, Catheline and Vincent-Delorme, Catherine and Vulto-van Silfhout, Anneke T and Wheeler, Patricia and Wilson, Golder N and Wilson, Louise C and Wollnik, Bernd and Kosho, Tomoki and Wieczorek, Dagmar and ...
Genetics in medicine, ISSN 1098-3600, 2019, Volume 21, Issue 6, pp. 1295 - 1307
Purpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing... 
Coffin–Siris syndrome | ARID1B | intellectual disability | bias
Journal Article
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2015, Volume 58, Issue 5, pp. 279 - 292
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 03/2010, Volume 47, Issue 3, pp. 169 - 175
Journal Article
by van der Sluijs, Pleuntje J and Jansen, Sana and Vergano, Samantha A and Adachi-Fukuda, Miho and Alanay, Yasemin and AlKindy, Adila and Baban, Anwar and Bayat, Allan and Beck-Woedl, Stefanie and Berry, Katherine and Bijlsma, Emilia K and Bok, Levinus A and Brouwer, Alwin F. J and van der Burgt, Ineke and Campeau, Philippe M and Canham, Natalie and Chrzanowska, Krystyna and Chu, Yoyo W. Y and Chung, Brain H. Y and Dahan, Karin and De Rademaeker, Marjan and Destree, Anne and Dudding-Byth, Tracy and Earl, Rachel and Elcioglu, Nursel and Elias, Ellen R and Fagerberg, Christina and Gardham, Alice and Gener, Blanca and Gerkes, Erica H and Grasshoff, Ute and van Haeringen, Arie and Heitink, Karin R and Herkert, Johanna C and den Hollander, Nicolette S and Horn, Denise and Hunt, David and Kant, Sarina G and Kato, Mitsuhiro and Kayserili, Hulya and Kersseboom, Rogier and Kilic, Esra and Krajewska-Walasek, Malgorzata and Lammers, Kylin and Laulund, Lone W and Lederer, Damien and Lees, Melissa and Lopez-Gonzalez, Vanesa and Maas, Saskia and Mancini, Grazia M. S and Marcelis, Carlo and Martinez, Francisco and Maystadt, Isabelle and McGuire, Marianne and McKee, Shane and Mehta, Sarju and Metcalfe, Kay and Milunsky, Jeff and Mizuno, Seiji and Moeschler, John B and Netzer, Christian and Ockeloen, Charlotte W and Oehl-Jaschkowitz, Barbara and Okamoto, Nobuhiko and Olminkhof, Sharon N. M and Orellana, Carmen and Pasquier, Laurent and Pottinger, Caroline and Riehmer, Vera and Robertson, Stephen P and Roifman, Maian and Rooryck, Caroline and Ropers, Fabienne G and Rosello, Monica and Ruivenkamp, Claudia A. L and Sagiroglu, Mahmut S and Sallevelt, Suzanne C. E. H and Sanchis Calvo, Amparo and Simsek-Kiper, Pelin O and Soares, Gabriela and Solaeche, Lucia and Sonmez, Fatma Mujgan and Splitt, Miranda and Steenbeek, Duco and Stegmann, Alexander P. A and Stumpel, Constance T. R. M and Tanabe, Saori and Uctepe, Eyyup and Utine, G. Eda and Veenstra-Knol, Hermine E and Venkateswaran, Sunita and Vilain, Catheline and Vincent-Delorme, Catherine and Vulto-van Silfhout, Anneke T and Wheeler, Patricia and Wilson, Golder N and Wilson, Louise C and Wollnik, Bernd and Kosho, Tomoki and Wieczorek, Dagmar and ...
Genetics in Medicine, ISSN 1098-3600, 06/2019, Volume 21, Issue 6, pp. 1295 - 1307
Journal Article