Koenraad Devriendt
Active 1995–2025
- 148
- Papers
- 21,252
- Citations
- 87
- h-index
- 145
- i10-index
Citations
Citation sources
Countries
Institutions
- Harvard University1%
- Inserm1%
- Radboud University Nijmegen0.7%
- KU Leuven0.7%
- Radboud University Medical Center0.7%
- Boston Children's Hospital0.6%
- Other95.3%
Fields
- Biochemistry, Genetics and Molecular Biology58.9%
- Medicine30.1%
- Neuroscience4.6%
- Immunology and Microbiology4%
- Agricultural and Biological Sciences0.7%
- Computer Science0.3%
- Other1.4%
Topics
- Congenital heart defects research6.4%
- Genomic variations and chromosomal abnormalities6.3%
- Genomics and Rare Diseases4.2%
- Genetics and Neurodevelopmental Disorders4.2%
- Prenatal Screening and Diagnostics2.6%
- Congenital Heart Disease Studies2.3%
- Other74%
Coauthors
- Joris Vermeesch40
- Jeroen Breckpot19
- Hilde Van Esch17
- Jean‐Pierre Fryns17
- Kris Van Den Bogaert17
- Thomy de Ravel17
- Marc Gewillig16
- Eric Legius15
- Nathalie Brison13
- Ann Swillen12
- Hilde Peeters12
- J. P. Fryns11
- Annick Vogels10
- Geert Mortier9
- Han G. Brunner9
- Gert Matthijs8
- Griet Van Buggenhout8
- Lore Lannoo8
- Bernard Thienpont7
- Björn Menten7
- Christian Gilissen7
- Frances Bu’Lock7
- Raoul C. M. Hennekam7
- Anita Rauch6
All papers
- Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Authors: Yanick J. Crow, Diana Chase, Johanna L. Schmidt, Marcin Szynkiewicz, Gabriella Forte, Hannah Gornall, Anthony Oojageer, Beverley Anderson, Amy Pizzino, Guy Helman, Mohamed S. Abdel‐Hamid, Ghada M. H. Abdel‐Salam, Sam Ackroyd, Alec Aeby, Guillermo Agosta, Catherine S. W. Albin, Stavit A. Shalev, Montse Arellano, Giada Ariaudo, Vijay Aswani, Riyana Babul‐Hirji, Eileen Baildam, Nadia Bahi‐Buisson, Kathryn Bailey, Christine Barnérias, Magalie Barth, Roberta Battini, Michael W. Beresford, Geneviève Bernard, Marika Bianchi, Thierry Billette de Villemeur, Edward Blair, Miriam Bloom, Alberto Burlina, Maria Luisa Carpanelli, Daniel R. Carvalho, Manuel Castro‐Gago, Anna Cavallini, Cristina Cereda, Kate Chandler, David Chitayat, Abigail E. Collins, Concepción Sierra Córcoles, Nuno Cordeiro, Giovanni Crichiutti, Lyvia Dabydeen, Russell C. Dale, Stefano D’Arrigo, Christian G E L De Goede, Corinne De Laet, Liesbeth M. H. De Waele, Inés María Denzler, Isabelle Desguerre, Koenraad Devriendt, Maja Di Rocco, Michael Fahey, Elisa Fazzi, Colin D. Ferrie, António Figueiredo, Blanca Gener, Cyril Goizet, Nirmala Gowrinathan, Kalpana Gowrishankar, Donncha Hanrahan, Bertrand Isidor, Bülent Kara, Naz Khan, Mary D. King, Edwin P. Kirk, Ram Kumar, Lieven Lagae, P. Landrieu, Heinz Lauffer, Vincent Laugel, Roberta La Piana, Ming Lim, Jean‐Pierre Lin, Tarja Linnankivi, Mark T. Mackay, Daphna Marom, Charles Marques Lourenço, Shane McKee, Isabella Moroni, Jenny E.V. Morton, Marie‐Laure Moutard, Kevin Murray, Rima Nabbout, Sheela Nampoothiri, Noemí Núñez‐Enamorado, P.J. Oades, Ivana Olivieri, John R. Østergaard, Belén Pérez‐Dueñas, Julie Prendiville, Venkateswaran Ramesh, Magnhild Rasmussen, Luc Régal, Federica Ricci, Marlène Rio, Diana Rodriguez and 36 more - American Journal of Medical Genetics Part A 2015 cited by 613
- Cell-free DNA methylome analysis for early preeclampsia prediction
Authors: Marie De Borre, Huiwen Che, Qian Yu, Lore Lannoo, Kobe De Ridder, Leen Vancoillie, Pauline Dreesen, Mika Van Den Ackerveken, Mio Aerden, Eva Galle, Jeroen Breckpot, Joachim Van Keirsbilck, Wilfried Gyselaers, Koenraad Devriendt, Joris Vermeesch, Kristel Van Calsteren, Bernard Thienpont - Nature Medicine 2023 cited by 83
- Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
Authors: the INTERVAL Study, Alejandro Sifrim, the Deciphering Developmental Disorders Study, Marc‐Phillip Hitz, Anna Wilsdon, Jeroen Breckpot, Saeed H. Al Turki, Bernard Thienpont, Jeremy F. McRae, Tomas Fitzgerald, Tarjinder Singh, G. Jawahar Swaminathan, Elena Prigmore, Diana Rajan, Hashim Abdul‐Khaliq, Siddharth Banka, Ulrike Bauer, Jamie Bentham, Felix Berger, Shoumo Bhattacharya, Frances Bu’Lock, Natalie Canham, Irina-Gabriela Colgiu, Catherine Cosgrove, Helen Cox, Ingo Daehnert, Allan Daly, John Danesh, Alan Fryer, Marc Gewillig, Emma Hobson, Kirstin Hoff, Tessa Homfray, Anne-Karin Kahlert, Ami Ketley, Hans-Heiner Kramer, Katherine Lachlan, Anne Katrin Lampe, Jacoba Louw, Ashok Kumar Manickara, Dorin Manase, Karen McCarthy, Kay Metcalfe, Carmel Moore, Ruth Newbury‐Ecob, Seham Osman Babiker Omer, Willem H. Ouwehand, Soo‐Mi Park, Michael Parker, Thomas Pickardt, Martin Pollard, Leema Robert, David J. Roberts, Jennifer Sambrook, Kerry Setchfield, Brigitte Stiller, Chris Thornborough, Okan Toka, Hugh Watkins, Denise Williams, Michael Wright, Seema Mital, Piers E.F. Daubeney, Bernard Keavney, Judith Goodship, Riyadh Mahdi Abu-Sulaiman, Sabine Klaassen, Caroline F. Wright, Helen V. Firth, Jeffrey C. Barrett, Koenraad Devriendt, David Fitzpatrick, J. David Brook, Matthew E. Hurles - Nature Genetics 2016 cited by 467
- Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections
Authors: Aida M. Bertoli‐Avella, Elisabeth Gillis, Hiroko Morisaki, Judith M.A. Verhagen, Bianca M. de Graaf, Gerarda van de Beek, Elena Gallo, Boudewijn P. T. Kruithof, Hanka Venselaar, Loretha Myers, Steven Laga, Alexander Doyle, Gretchen Oswald, Gert W. A. van Cappellen, Itaru Yamanaka, R.M. van der Helm, Berna Beverloo, Annelies de Klein, Luba M. Pardo, Martin Lammens, Christina Evers, Koenraad Devriendt, Michiel Dumoulein, Janneke Timmermans, Hennie T. Brüggenwirth, Frans W. Verheijen, Inez Rodrigus, Gareth Baynam, Marlies Kempers, Johan Saenen, Emeline M. Van Craenenbroeck, Kenji Minatoya, Ritsu Matsukawa, Takuro Tsukube, Noriaki Kubo, Robert M.W. Hofstra, Marie‐José Goumans, Jos A. Bekkers, Jolien W. Roos‐Hesselink, Ingrid M.B.H. van de Laar, Harry C. Dietz, Lut Van Laer, Takayuki Morisaki, Marja W. Wessels, Bart Loeys - Journal of the American College of Cardiology 2015 cited by 297
- Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot
Authors: Donna J. Page, Matthieu J. Miossec, Simon G. Williams, Richard M. Monaghan, Elisavet Fotiou, Heather J. Cordell, Louise Sutcliffe, Ana Töpf, Mathieu Bourgey, Guillaume Bourque, Robert Eveleigh, Sally L. Dunwoodie, David S. Winlaw, Shoumo Bhattacharya, Jeroen Breckpot, Koenraad Devriendt, Marc Gewillig, J. David Brook, Kerry Setchfield, Frances Bu’Lock, John O’Sullivan, Graham Stuart, Connie R. Bezzina, Barbara J.M. Mulder, Alex V. Postma, James R. Bentham, Martín Baron, Sanjeev S. Bhaskar, Graeme C. Black, William G. Newman, Kathryn E. Hentges, G.M. Lathrop, Mauro Santibanez‐Koref, Bernard Keavney - Circulation Research 2019 cited by 198
- Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability
Authors: Tjitske Kleefstra, Jamie M. Kramer, Kornelia Neveling, Marjolein H. Willemsen, Tom S. Koemans, Lisenka E.L.M. Vissers, W.M. Wissink-Lindhout, Michaela Fencková, Willem M.R. van den Akker, Nael Nadif Kasri, Willy M. Nillesen, Trine Prescott, Robin D. Clark, Koenraad Devriendt, Jeroen van Reeuwijk, Arjan P.M. de Brouwer, Christian Gilissen, Huiqing Zhou, Han G. Brunner, Joris A. Veltman, Annette Schenck, Hans van Bokhoven - The American Journal of Human Genetics 2012 cited by 271
- Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease
Authors: Rachel Soemedi, Ian Wilson, Jamie Bentham, Rebecca Darlay, Ana Töpf, Diana Zélénika, Catherine Cosgrove, Kerry Setchfield, Chris Thornborough, Javier T Granados-Riveron, Gillian M. Blue, Jeroen Breckpot, Stephen Hellens, Simon Zwolinkski, Elise Glen, Chrysovalanto Mamasoula, Thahira Rahman, Darroch Hall, Anita Rauch, Koenraad Devriendt, Marc Gewillig, John O’ Sullivan, David S. Winlaw, Frances Bu’Lock, J. David Brook, Shoumo Bhattacharya, Mark Lathrop, Mauro Santibanez‐Koref, Heather J. Cordell, Judith A. Goodship, Bernard Keavney - The American Journal of Human Genetics 2012 cited by 338
- Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
Authors: Margaret J. McMillin, Anita E. Beck, Jessica X. Chong, Kathryn M. Shively, Kati J. Buckingham, Heidi Gildersleeve, Mariana Aracena, Arthur S. Aylsworth, Pierre Bitoun, John C. Carey, Carol L. Clericuzio, Yanick J. Crow, Cynthia J. Curry, Koenraad Devriendt, David B. Everman, Alan Fryer, Kate Gibson, Maria Luisa Giovannucci Uzielli, John M. Graham, Judith G. Hall, Jacqueline T. Hecht, Randall A. Heidenreich, Jane A. Hurst, Sarosh R. Irani, Ingrid P.C. Krapels, Jules G. Leroy, David Mowat, Gordon T. Plant, Stephen P. Robertson, Elizabeth K. Schorry, Richard H. Scott, Laurie H. Seaver, Elliott H. Sherr, Miranda Splitt, Helen Stewart, Constance T. R. M. Stumpel, Şehime Gülsün Temel, David D. Weaver, Margo Whiteford, Marc S. Williams, Holly K. Tabor, Joshua D. Smith, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad - The American Journal of Human Genetics 2014 cited by 218
- PEDIA: prioritization of exome data by image analysis
Authors: Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel, Dione Aguilar, Omri Bar, Allan Bayat, Luis E. Becerra-Solano, Heidi Beate Bentzen, Saskia Biskup, Oleg Borisov, Øivind Braaten, Claudia Ciaccio, Marie Coutelier, Kirsten Cremer, Magdalena Danyel, Svenja Daschkey, Hilda David Eden, Koenraad Devriendt, Sandra Wilson, Sofia Douzgou, Dejan Đukić, Nadja Ehmke, Christine Fauth, Björn Fischer‐Zirnsak, Nicole Fleischer, Heinz Gabriel, Luitgard Graul‐Neumann, Karen W. Gripp, Yaron Gurovich, А.А. Гусина, Nechama Haddad, Nurulhuda Hajjir, Yair Hanani, Jakob Hertzberg, Konstanze Hoertnagel, Janelle Howell, Ivan Ivanovski, Angela M. Kaindl, Tom Kamphans, Susanne B. Kamphausen, Catherine Karimov, Hadil Kathom, Anna Keryan, Alexej Knaus, Sebastian Köhler, Uwe Kornak, А. В. Лавров, Maximilian Leitheiser, Gholson J. Lyon, Elisabeth Mangold, Purificación Marín Reina, Antonio Martínez Carrascal, Diana Mitter, Laura Morlán Herrador, Guy Nadav, Markus M. Nöthen, Alfredo Orrico, Claus‐Eric Ott, Kristen Park, Borut Peterlin, Laura Pölsler, Annick Raas‐Rothschild, Linda M. Randolph, Nicole Revençu, Christina Fagerberg, Peter Nick Robinson, Stanislav Rosnev, Sabine Rudnik, Goražd Rudolf, Ulrich A. Schatz, Anna Schossig, Max Schubach, Or Shanoon, Eamonn Sheridan, Pola Smirin‐Yosef, Malte Spielmann, Eun-Kyung Suk, Yves Sznajer, Christian T. Thiel, Gundula Thiel, Alain Verloès, Irena Vrečar, Dagmar Wahl, Ingrid Weber, Korina Winter, Marzena Wiśniewska, Bernd Wollnik, Ming Wai Yeung, Max Zhao, Na Zhu, Johannes Zschocke, Stefan Mundlos, Denise Horn, Peter Krawitz - Genetics in Medicine 2019 cited by 86
- A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
Authors: Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, Sabine Steiner-Haldenstätt, Esther Pohl, Yun Li, Esther Milz, Marcel Martin, Holger Thiele, Janine Altmüller, Yasemin Alanay, Hülya Kayserili, Ludger Klein‐Hitpaß, Stefan Böhringer, Andreas Wollstein, Beate Albrecht, Koray Boduroğlu, Almuth Caliebe, Krystyńa Chrzańowska, Özgür Çoğulu, Francesca Cristofoli, Johanna Christina Czeschik, Koenraad Devriendt, Maria Teresa Dotti, Nursel Elçioğlu, Blanca Gener, Timm O. Goecke, Małgorzata Krajewska‐Walasek, Encarna Guillén‐Navarro, Joussef Hayek, Gunnar Houge, Esra KAYA KILIÇ, Pelin Özlem Şimşek‐Kiper, Vanesa López‐González, Alma Kuechler, Stanislas Lyonnet, Francesca Mari, Annabella Marozza, Michèle Mathieu Dramard, Barbara Mikat, G Morin, Fanny Morice‐Picard, Ferda Özkınay, Anita Rauch, Alessandra Renieri, Sigrid Tinschert, Gülen Eda Ütine, Catheline Vilain, Rossella Vivarelli, Christiane Zweier, Peter Nürnberg, Sven Rahmann, Joris Vermeesch, Hermann‐Josef Lüdecke, Michael Zeschnigk, Bernd Wollnik - Human Molecular Genetics 2013 cited by 228
- Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16
Authors: Heather J. Cordell, Jamie Bentham, Ana Töpf, Diana Zélénika, Simon Heath, Chrysovalanto Mamasoula, Catherine Cosgrove, Gillian M. Blue, Javier T Granados-Riveron, Kerry Setchfield, Chris Thornborough, Jeroen Breckpot, Rachel Soemedi, Ruairidh Martin, Thahira Rahman, Darroch Hall, Klaartje van Engelen, Antoon F.M. Moorman, A. H. Zwinderman, Phil Barnett, Tamara T. Koopmann, Michiel Adriaens, András Varró, Alfred L. George, C. Dos Remedios, Nanette H. Bishopric, Connie R. Bezzina, John O’Sullivan, Marc Gewillig, Frances Bu’Lock, David S. Winlaw, Shoumo Bhattacharya, Koenraad Devriendt, J. David Brook, Barbara J.M. Mulder, Seema Mital, Alex V. Postma, G.M. Lathrop, Martin Farrall, Judith A. Goodship, Bernard Keavney - Nature Genetics 2013 cited by 165
- Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
Authors: Kris Van Den Bogaert, Lore Lannoo, Nathalie Brison, Vincent Gâtinois, Machteld Baetens, Bettina Blaumeiser, François Boemer, Laura Bourlard, Vincent Bours, Anne De Leener, Marjan De Rademaeker, Julie Désir, Annelies Dheedene, Armelle Duquenne, Nathalie Fieremans, Annelies Fieuw, Jean‐Stéphane Gatot, Bernard Grisart, Katrien Janssens, Sandra Janssens, Damien Lederer, Axel Marichal, Björn Menten, Colombine Meunier, Léonor Palmeira, Bruno Pichon, Eva Sammels, Guillaume Smits, Yves Sznajer, Elise Vantroys, Koenraad Devriendt, Joris Vermeesch - Genetics in Medicine 2021 cited by 128
- Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion
Authors: Isabelle Cleynen, Worrawat Engchuan, Matthew S. Hestand, Tracy Heung, Aaron M. Holleman, H. Richard Johnston, Thomas Monfeuga, Donna M. McDonald‐McGinn, Raquel E. Gur, Bernice E. Morrow, Ann Swillen, Jacob Vorstman, Carrie E. Bearden, Eva W. C. Chow, Marianne B. M. van den Bree, B S Emanuel, Joris Vermeesch, Stephen T. Warren, Michael J. Owen, Pankaj Chopra, David J. Cutler, Richard Duncan, Alex Kotlar, Jennifer G. Mulle, Anna J. Voss, Michael E. Zwick, Alexander Diacou, Aaron Golden, Tingwei Guo, Jhih-Rong Lin, Tao Wang, Zhengdong Zhang, Yingjie Zhao, Christian R. Marshall, Daniele Merico, Andrea Jin, Brenna Lilley, Harold I. Salmons, Oanh Tran, Peter Holmans, Antonio F. Pardiñas, James Walters, Wolfram Demaerel, Erik Boot, Nancy J. Butcher, Gregory Costain, Chelsea Lowther, Rens Evers, Thérèse van Amelsvoort, Esther van Duin, Claudia Vingerhoets, Jeroen Breckpot, Koenraad Devriendt, Elfi Vergaelen, Annick Vogels, T. Blaine Crowley, Daniel E. McGinn, Edward Moss, Robert Sharkus, Marta Unolt, Elaine H. Zackai, Monica E. Calkins, Robert S. Gallagher, Ruben C. Gur, Sunny X. Tang, Rosemarie Fritsch, Claudia Ornstein, Gabriela M. Repetto, Elemi Breetvelt, Sasja N. Duijff, Ania Fiksinski, Hayley Moss, Maria Niarchou, Kieran C. Murphy, Sarah E. Prasad, Eileen Daly, Maria Gudbrandsen, Clodagh M. Murphy, Declan Murphy, Antonio Buzzanca, Fabio Di Fabio, Maria Cristina Digilio, Maria Pontillo, Bruno Marino, Stefano Vicari, Karlene Coleman, Joseph F. Cubells, Opal Ousley, Miri Carmel, Doron Gothelf, Ehud Mekori‐Domachevsky, Elena Michaelovsky, Ronnie Weinberger, Abraham Weizman, Leila Kushan, Maria Jalbrzikowski, Marco Armando, Stéphan Eliez, Corrado Sandini, Maude Schneider and 24 more - Molecular Psychiatry 2020 cited by 135
- Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnancies
Authors: Liesbeth Lenaerts, Nathalie Brison, Charlotte Maggen, Leen Vancoillie, Huiwen Che, Peter Vandenberghe, Daan Dierickx, Lucienne Michaux, Barbara Dewaele, Patrick Neven, Giuseppe Floris, Thomas Tousseyn, Lore Lannoo, Tatjana Jatsenko, Isabelle Vanden Bempt, Kristel Van Calsteren, Vincent Vandecaveye, Luc Dehaspe, Koenraad Devriendt, Eric Legius, Kris Van Den Bogaert, Joris Vermeesch, Frédéric Amant - EClinicalMedicine 2021 cited by 82
- Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder
Authors: Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor, Alexander P.A. Stegmann, Richard H. van Jaarsveld, Koen L.I. van Gassen, Jasper J. van der Smagt, Catharina M.L. Volker‐Touw, Sjoerd J.B. Holwerda, Pauline Terhal, Sarah Schuhmann, Georgia Vasileiou, Mohamed Khalifa, Alaa Nugud, Hemad Yasaei, Lilian Bomme Ousager, Charlotte Brasch‐Andersen, Wallid Deb, Thomas Besnard, Marleen Simon, Karin Huijsdens–van Amsterdam, Nienke E. Verbeek, Dena R. Matalon, Natalie Dykzeul, Shana White, Elizabeth Spiteri, Koenraad Devriendt, Anneleen Boogaerts, Marjolein H. Willemsen, Han G. Brunner, Margje Sinnema, Bert B.A. de Vries, Erica H. Gerkes, Rolph Pfundt, Kosuke Izumi, Ian D. Krantz, Zhou L. Xu, Jill R. Murrell, Irene Valenzuela, Ivon Cuscó, Eulàlia Rovira‐Moreno, Yaping Yang, Varoona Bizaoui, Olivier Patat, Laurence Faivre, Frédéric Tran Mau‐Them, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon, Christophe Philippe, Stéphane Bezieau, Benjamin Cogné - Genetics in Medicine 2022 cited by 51
- Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease
Authors: Enrique Audain, Anna Wilsdon, Jeroen Breckpot, José M. G. Izarzugaza, Tomas Fitzgerald, Anne‐Karin Kahlert, Alejandro Sifrim, Florian Wünnemann, Yasset Pérez‐Riverol, Hashim Abdul‐Khaliq, Mads Bak, Anne S. Bassett, Woodrow Benson, Felix Berger, Ingo Daehnert, Koenraad Devriendt, Sven Dittrich, Piers E.F. Daubeney, Vidu Garg, Karl Hackmann, Kirstin Hoff, P. Hofmann, Gregor Dombrowsky, Thomas Pickardt, Ulrike Bauer, Bernard Keavney, Sabine Klaassen, Hans-Heiner Kramer, Christian R. Marshall, Dianna M. Milewicz, Scott A. LeMaire, Joseph S. Coselli, Michael E. Mitchell, Aoy Tomita‐Mitchell, Siddharth K. Prakash, Karl Stamm, Alexandre F.R. Stewart, Candice K. Silversides, Reiner Siebert, Brigitte Stiller, Jill A. Rosenfeld, Inga Vater, Alex V. Postma, Almuth Caliebe, J. David Brook, Grégor Andelfinger, Matthew E. Hurles, Bernard Thienpont, Lars Allan Larsen, Marc‐Phillip Hitz - PLoS Genetics 2021 cited by 36
- Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
Authors: Heather C. Mefford, Andrew J. Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Karen Buysse, Shuwen Huang, Viv Maloney, John A. Crolla, Diana Baralle, Amanda Collins, Catherine Mercer, Koen Norga, Thomy de Ravel, Koenraad Devriendt, Ernie M.H.F. Bongers, Nicole de Leeuw, William Reardon, Stefania Gimelli, Frédérique Béna, Raoul C. M. Hennekam, Alison Male, Lorraine Gaunt, Jill Clayton‐Smith, Ingrid Simonic, Soo Mi Park, Sarju Mehta, Serena Nik‐Zainal, C. Geoffrey Woods, Helen V. Firth, Georgina Parkin, Marco Fichera, S Reitano, Mariangela Lo Giudice, Kelly E. Li, Iris Casuga, Adam Broomer, Bernard Conrad, Markus Schwerzmann, Lorenz Räber, Sabina Gallati, Pasquale Striano, Antonietta Coppola, John Tolmie, Edward S. Tobias, Chris J. Lilley, Lluı́s Armengol, Yves Spysschaert, Patrick Verloo, Anja De Coene, Linde Goossens, Geert Mortier, Frank Speleman, Ellen van Binsbergen, Marcel Nelen, Ron Hochstenbach, Martin Poot, Louise Gallagher, Michael Gill, Jon McClellan, Mary‐Claire King, Regina Regan, Cindy Skinner, Roger E. Stevenson, Stylianos E. Antonarakis, Caifu Chen, Xavier Estivill, Björn Menten, Giorgio Gimelli, Susan Gribble, Stuart Schwartz, James S. Sutcliffe, Tom Walsh, Samantha J.L. Knight, Jonathan Sebat, Corrado Romano, Charles E. Schwartz, Joris A. Veltman, Bert B.A. de Vries, Joris Vermeesch, John Barber, Lionel Willatt, May Tassabehji, Evan E. Eichler - New England Journal of Medicine 2008 cited by 811
- GATA3 haplo-insufficiency causes human HDR syndrome
Authors: Hilde Van Esch, Peter Groenen, M. Andrew Nesbit, Simone Schuffenhauer, Peter Lichtner, Gert Vanderlinden, Brian Harding, Rolf Beetz, Rudolf W. Bilous, I. M. Holdaway, Nicholas J Shaw, J P Fryns, Wim Van de Ven, Rajesh V. Thakker, Koenraad Devriendt - Nature 2000 cited by 660
- Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)
Authors: Christiane Zweier, Maarit Peippo, Juliane Hoyer, Sérgio B. Sousa, Armand Bottani, Jill Clayton‐Smith, William Reardon, Jorge Saraiva, Alexandra Cabral, Ina Göhring, Koenraad Devriendt, Thomy de Ravel, Emilia K. Bijlsma, Raoul C. M. Hennekam, Alfredo Orrico, Monika Cohen, Alexander Dreweke, André Reis, Peter Nürnberg, Anita Rauch - The American Journal of Human Genetics 2007 cited by 323
- ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
Authors: Sara Cuvertino, Helen M. Stuart, Kate Chandler, Neil Roberts, Ruth Armstrong, Laura Bernardini, Sanjeev S. Bhaskar, Bert Callewaert, Jill Clayton‐Smith, Cristina Hernando Davalillo, Charu Deshpande, Koenraad Devriendt, M. Cristina Digilio, Abhijit Dixit, Matthew Edwards, Jan M. Friedman, Antonio González‐Meneses, Shelagh Joss, Bronwyn Kerr, Anne Katrin Lampe, Sylvie Langlois, Rachel Lennon, Philippe Loget, David Y.T., Ruth McGowan, Maryse Des Medt, James D.B. O’Sullivan, Sylvie Odent, Michael Parker, Céline Pebrel‐Richard, Florence Petit, Zornitza Stark, Sylvia Stöckler‐Ipsiroglu, Sigrid Tinschert, Pradeep Vasudevan, Olaya Villa, Susan M. White, Farah Zahir, Adrian S. Woolf, Siddharth Banka - The American Journal of Human Genetics 2017 cited by 141
- Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator
Authors: Aimé Lumaka, Nele Cosemans, Aimee Lulebo Mampasi, Gerrye Mubungu, Nono Mvuama, Toni Kasole Lubala, Sébastien Mbuyi‐Musanzayi, Jeroen Breckpot, Maureen Holvoet, Thomy de Ravel, Griet Van Buggenhout, Hilde Peeters, Dian Donnai, Léon Mutesa, Alain Verloès, P. Lukusa Tshilobo, Koenraad Devriendt - Clinical Genetics 2016 cited by 87
- Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group
Authors: Aimé Lumaka, Nadia Carstens, Koenraad Devriendt, Amanda Krause, Benard W. Kulohoma, Judit Kumuthini, Gerrye Mubungu, John Mukisa, Melissa Nel, Timothy O. Olanrewaju, Zané Lombard, Guida Landouré - Orphanet Journal of Rare Diseases 2022 cited by 50
- X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
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