Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings.

by Jacoba J Louw, Ricardo Nunes Bastos, Xiaowen Chen, Céline Verdood, Anniek Corveleyn, Yaojuan Jia, Jeroen Breckpot, Marc Gewillig, Hilde Peeters, Massimo M Santoro, Francis Barr, Koenraad Devriendt
Published 2018-01-01

Multi-Scale Part-Based Syndrome Classification of 3D Facial Images

by Soha Sadat Mahdi, Harold Matthews, Nele Nauwelaers, Michiel Vanneste, Shunwang Gong, Giorgos Bouritsas, Gareth S. Baynam, Peter Hammond, Richard Spritz, Ophir D. Klein, Benedikt Hallgrimsson, Hilde Peeters, Michael Bronstein, Peter Claes
Published 2022-01-01

Spatially Dense 3D Facial Heritability and Modules of Co-heritability in a Father-Offspring Design

by Hanne Hoskens, Hanne Hoskens, Jiarui Li, Jiarui Li, Karlijne Indencleef, Karlijne Indencleef, Dorothy Gors, Dorothy Gors, Maarten H. D. Larmuseau, Stephen Richmond, Alexei I. Zhurov, Greet Hens, Hilde Peeters, Peter Claes, Peter Claes, Peter Claes
Published 2018-11-01

Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism

by Harold S. Matthews, Richard L. Palmer, Gareth S. Baynam, Oliver W. Quarrell, Ophir D. Klein, Richard A. Spritz, Raoul C. Hennekam, Susan Walsh, Mark Shriver, Seth M. Weinberg, Benedikt Hallgrimsson, Peter Hammond, Anthony J. Penington, Hilde Peeters, Peter D. Claes
Published 2021-06-01

3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies.

by Hanne Hoskens, Dongjing Liu, Sahin Naqvi, Myoung Keun Lee, Ryan J Eller, Karlijne Indencleef, Julie D White, Jiarui Li, Maarten H D Larmuseau, Greet Hens, Joanna Wysocka, Susan Walsh, Stephen Richmond, Mark D Shriver, John R Shaffer, Hilde Peeters, Seth M Weinberg, Peter Claes
Published 2021-05-01

Six NSCL/P Loci Show Associations With Normal-Range Craniofacial Variation

by Karlijne Indencleef, Karlijne Indencleef, Jasmien Roosenboom, Hanne Hoskens, Hanne Hoskens, Julie D. White, Mark D. Shriver, Stephen Richmond, Hilde Peeters, Eleanor Feingold, Mary L. Marazita, Mary L. Marazita, John R. Shaffer, John R. Shaffer, Seth M. Weinberg, Seth M. Weinberg, Greet Hens, Peter Claes, Peter Claes
Published 2018-10-01

Increased Ca2+ signaling in NRXN1α +/− neurons derived from ASD induced pluripotent stem cells

by Sahar Avazzadeh, Katya McDonagh, Jamie Reilly, Yanqin Wang, Stephanie D. Boomkamp, Veronica McInerney, Janusz Krawczyk, Jacqueline Fitzgerald, Niamh Feerick, Matthew O’Sullivan, Amirhossein Jalali, Eva B. Forman, Sally A. Lynch, Sean Ennis, Nele Cosemans, Hilde Peeters, Peter Dockery, Timothy O’Brien, Leo R. Quinlan, Louise Gallagher, Sanbing Shen
Published 2019-12-01

NRXN1α+/- is associated with increased excitability in ASD iPSC-derived neurons

by Sahar Avazzadeh, Leo R. Quinlan, Jamie Reilly, Katya McDonagh, Amirhossein Jalali, Yanqin Wang, Veronica McInerney, Janusz Krawczyk, Yicheng Ding, Jacqueline Fitzgerald, Matthew O’Sullivan, Eva B. Forman, Sally A. Lynch, Sean Ennis, Niamh Feerick, Richard Reilly, Weidong Li, Xu Shen, Guangming Yang, Yin Lu, Hilde Peeters, Peter Dockery, Timothy O’Brien, Sanbing Shen, Louise Gallagher
Published 2021-09-01

The Intersection of the Genetic Architectures of Orofacial Clefts and Normal Facial Variation

by Karlijne Indencleef, Karlijne Indencleef, Hanne Hoskens, Hanne Hoskens, Myoung Keun Lee, Julie D. White, Chenxing Liu, Ryan J. Eller, Sahin Naqvi, Sahin Naqvi, George L. Wehby, Lina M. Moreno Uribe, Jacqueline T. Hecht, Ross E. Long, Kaare Christensen, Frederic W. Deleyiannis, Susan Walsh, Mark D. Shriver, Stephen Richmond, Joanna Wysocka, Joanna Wysocka, Hilde Peeters, John R. Shaffer, John R. Shaffer, Mary L. Marazita, Mary L. Marazita, Greet Hens, Seth M. Weinberg, Seth M. Weinberg, Seth M. Weinberg, Peter Claes, Peter Claes, Peter Claes
Published 2021-02-01

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

by Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll, Kathryn Friend, Rachael Catford, Elizabeth E. Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke Van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J. V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin Delatycki, Paul J. Lockhart, Melanie A. Manning, Pengfei Liu, Ingrid E. Scheffer, Nicola Brunetti-Pierri, Nanda Rommelse, David G. Amaral, Gijs W. E. Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J. Michaelson, Karen Pierce, Eric Courchesne, R. Frank Kooy, The SPARK Consortium, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A. Bernier, Jozef Gecz, Kun Xia, Evan E. Eichler
Published 2020-10-01

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

by Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll, Kathryn Friend, Rachael Catford, Elizabeth E. Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke Van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J. V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin Delatycki, Paul J. Lockhart, Melanie A. Manning, Pengfei Liu, Ingrid E. Scheffer, Nicola Brunetti-Pierri, Nanda Rommelse, David G. Amaral, Gijs W. E. Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J. Michaelson, Karen Pierce, Eric Courchesne, R. Frank Kooy, The SPARK Consortium, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A. Bernier, Jozef Gecz, Kun Xia, Evan E. Eichler
Published 2020-10-01

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

by Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E. L. M. Vissers, Magnus Nordenskjold, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gecz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celenie K. Christensen, Kerry M. White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch-Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, Frank Kooy, Marije Meuwissen, Alice Basinger, Mary Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond-Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, CAUSES Study, Elena Lopez-Rangel, Paul Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie Vento, Divya Vats, L. Manace Benman, Shane Mckee, Ghayda M. Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen E. H. Simon, Koen L. I. van Gassen, Kara Simpson, Robert Stratton, Sabeen Syed, Julien Thevenon, Irene Valenzuela Palafoll, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, SPARK Consortium, Rachel K. Earl, Tomasz Nowakowski, Raphael A. Bernier, Evan E. Eichler
Published 2021-04-01