Name Moderators
22q11 deletion Lex Dingemans (Nijmegen, Netherlands)
ABAT Phillip Pearl (Boston, United States),
Mehul Kumar (Amsterdam, Netherlands),
Michael Gibson (Spokane, United States),
Melissa DiBacco (Boston, United States)
ACER3 Cungui Mao (New York, United States),
Mehul Kumar (Amsterdam, Netherlands)
ACTL6A Ronit Marom (Houston, United States),
Mari Tokita (San Diego, United States),
Mehul Kumar (Amsterdam, Netherlands)
ADAT3 Shital Tester (Ahmedabad, India),
Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia),
Mehul Kumar (Amsterdam, Netherlands)
ADGRG6 Gina Ravenscroft (Perth, Australia),
Mehul Kumar (Amsterdam, Netherlands)
ADNP Bert de Vries (Nijmegen, Netherlands),
Frank Kooy (Antwerp, Belgium),
Lex Dingemans (Nijmegen, Netherlands),
Anke Van Dijck (Antwerp, Belgium),
Evan Eichler (Seattle, United States),
Mehul Kumar (Amsterdam, Netherlands)
AHDC1 Shital Tester (Ahmedabad, India),
Margje Sinnema (Maastricht, Netherlands),
Sander Stegmann (Maastricht, Netherlands),
Vasudevan Pradeep (Leicester, United Kingdom),
Mehul Kumar (Amsterdam, Netherlands)
AKT3 Bill Dobyns (Seattle, United States),
Ghayda Mirzaa (Seattle, United States),
Mehul Kumar (Amsterdam, Netherlands)
ALKBH8 Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
ALPK3 Johanna C. Herkert (Groningen, Netherlands),
Judith Verhagen (Rotterdam, Netherlands)
ALX1 Nurten Akarsu (Ankara, Turkey),
Arda Cetinkaya (Istanbul, Turkey)
ANKRD11 Charlotte Ockeloen (Nijmegen, Netherlands),
Rolph Pfundt (Nijmegen, Netherlands),
Karen Low (Bristol, United Kingdom),
Raghu Prajapati (AHMEDABAD, India),
Gholson Lyon (New York, United States)
ANKRD17 Maya Chopra (Boston, United States),
Chris Gordon (Paris, France)
AP1B1 Mohnish Suri (Nottingham, United Kingdom),
Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
APOPT1 Erika Fernandez-Vizarra (Cambridge, United Kingdom),
Massimo Zeviani (Cambridge, United Kingdom)
ARCN1 Kosuke Izumi (Philadelphia, United States),
Alyssa Ritter (Philadelphia, United States)
ARID1A Gijs Santen (Leiden, Netherlands),
Eline van der Sluijs (Leiden, Netherlands)
ARID1B Gijs Santen (Leiden, Netherlands),
Eline van der Sluijs (Leiden, Netherlands),
Bert de Vries (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands),
Mehul Kumar (Amsterdam, Netherlands)
ARID2 Nuria Brämswig (Essen, Germany),
Gijs Santen (Leiden, Netherlands),
Eline van der Sluijs (Leiden, Netherlands)
ARL14EP Ranad Shaheen (Riyadh, Saudi Arabia),
Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
ARL3 John A Sayer (Newcastle Upon Tyne, United Kingdom),
Laura J Powell (Newcastle Upon Tyne, United Kingdom)
ARMC5 Rachel Wurth (Maryland, United States),
Fady Hannah-Shmouni (Maryland, United States),
Fabio R. Faucz (Maryland, United States),
Constantine A. Stratakis (Maryland, United States)
ARX Bill Dobyns (Seattle, United States)
ASNA1 Judith Verhagen (Rotterdam, Netherlands),
Ingrid M.B.H. van de Laar (Rotterdam, Netherlands)
ASPH Nisha Patel (Riyadh, Saudi Arabia),
Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
ASXL2 Loren Pena (Cincinnati, United States),
Vandana Shashi (Durham, United States),
Kelly Schoch (Durham, United States)
ASXL3 Stephanie Bielas (Ann Arbor, United States),
Donna Martin (Ann Arbor, United States),
Maria Irene Valenzuela Palafoll (Barcelona, Spain)
ATN1 Emma Palmer (Sydney, Australia),
Stefan Arold (Thuwal, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
ATP1A2 M.J.V. Hoffer (Leiden, Netherlands),
A.M.J.M. van den Maagdenberg (Leiden, Netherlands),
A.V.E. Harder (Leiden, Netherlands)
ATP2B3 Ginevra Zanni (Rome, Italy)
ATP6V1B2 Yongyi Yuan (Beijing, China),
Pu Dai (Beijing, China),
Xi Lin (Atlanta, United States)
AUTS2 Gea Beunders (Amsterdam, Netherlands),
Erik Sistermans (Amsterdam, Netherlands)
BCL11A Cristina Dias (London, United Kingdom),
Angela Peron (Salt Lake City, United States),
David Viskochil (Salt Lake City, United States)
BGN Josephina Meester (Antwerp, Belgium),
Bart Loeys (Antwerp, Belgium)
BMP2 Tiong Yang Tan (Melbourne, Australia),
Claudia Gonzaga-Jauregui (Tarrytown, United States)
BPTF Pawel Stankiewicz (Houston, United States),
Yaping Yang (Houston, United States)
BRAT1 Siddharth Srivastava (Boston, United States),
Sakkubai Naidu (Baltimore, United States)
BRWD3 Michael Field (Waratah, Australia)
C12orf57 Raghu Prajapati (AHMEDABAD, India),
Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
CACNA1A M.J.V. Hoffer (Leiden, Netherlands),
A.M.J.M. van den Maagdenberg (Leiden, Netherlands),
A.V.E. Harder (Leiden, Netherlands)
CAMK2A Sébastien Küry (Nantes, France),
Geeske van Woerden (Rotterdam, Netherlands),
Sandra Mercier (Nantes, France)
CAMK2B Sébastien Küry (Nantes, France),
Geeske van Woerden (Rotterdam, Netherlands),
Sandra Mercier (Nantes, France)
CCDC88A Geoffey Woods (Cambridge, United Kingdom),
Angela F Brady (Harrow, United Kingdom)
CCND2 Bill Dobyns (Seattle, United States),
Ghayda Mirzaa (Seattle, United States)
CD55 Alina Kurolap (Haifa, Israel),
Hagit Baris Feldman (Haifa, Israel)
CDH1 Jamal Ghoumid (Lille, France),
Sylvie Manouvrier (Lille, France)
CDK10 Juliette Piard (Besançon, France),
Lionel van Maldergem (Besançon, France)
CDK13 Lex Dingemans (Nijmegen, Netherlands)
CEP120 Enza Maria Valente (Pavia, Italy),
Susanne Roosing (Nijmegen, Netherlands),
Valentina Serpieri (Pavia, Italy)
CEP78 Pietro Farinelli (Copenhagen, Denmark),
Konstantinos Nikopoulos (Lausanne, Switzerland),
Carlo Rivolta (Leicester, United Kingdom)
CHD2 Evan Eichler (Seattle, United States)
CHD3 Philippe Campeau (Monteral, Canada),
Erik van Heesbeen (Montreal, Canada)
CHD4 Karin Weiss (Haifa, Israel)
CHD8 Raphael Bernier (Seattle, United States),
Bert de Vries (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands),
Evan Eichler (Seattle, United States)
CHR1Q21 Heather Mefford (Seattle, United States),
Evan Eichler (Seattle, United States)
CIC Huda Zoghbi (Houston, United States),
Mark Durham (Houston, United States)
CLCN4 Vera Kalscheuer (Berlin, Germany),
Emma Palmer (Sydney, Australia)
CLP1 Ender Karaca (Birmingham, United States),
James R. Lupski (Houston, United States)
CLPP William G. Newman (Manchester, United Kingdom),
Leigh A.M. Demain (Manchester, United Kingdom)
CLTC David Koolen (Nijmegen, Netherlands)
CLTCL1 Geoffey Woods (Cambridge, United Kingdom)
CNKSR2 Jill Clayton-Smith (Manchester, United Kingdom),
Rebecca Sayer (Manchester, United Kingdom)
CNNM2 J.H.F. de Baaij (Nijmegen, Netherlands),
J.G.J. Hoenderop (Nijmegen, Netherlands)
COG4 Carlos R. Ferreira (Washington, DC, United States)
COL27A1 Claudia Gonzaga-Jauregui (Tarrytown, United States)
COQ2 Catarina M. Quinzii (New York, United States),
Eva Trevisson (Padova, Italy)
COX7B Brunella Franco (Naples, Italy),
Alessia Indrieri (Naples, Italy)
CRADD Nataliya Di Donato (Dresden, Germany),
Bill Dobyns (Seattle, United States)
CTNND1 Jamal Ghoumid (Lille, France),
Sylvie Manouvrier (Lille, France)
CWC27 Rui Chen (Houston, United States),
Ruifang Sui (Peking, China)
DCAF17 Raghu Prajapati (AHMEDABAD, India),
Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
DDX3X Lex Dingemans (Nijmegen, Netherlands)
DDX59 Hanan E Shamseldin (Riyadh, Saudi Arabia),
Raghu Prajapati (AHMEDABAD, India),
Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
DEAF1 Lisenka Vissers (Nijmegen, Netherlands),
Anneke Vulto-van Silfhout (Nijmegen, Netherlands),
Maria Nabais Sá (Nijmegen, Netherlands),
Philip Jensik (Carbondale, United States),
Bert de Vries (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands)
DEAF1 autosomal dominant Lisenka Vissers (Nijmegen, Netherlands),
Anneke Vulto-van Silfhout (Nijmegen, Netherlands),
Maria Nabais Sá (Nijmegen, Netherlands),
Philip Jensik (Carbondale, United States),
Bert de Vries (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands)
DEAF1 autosomal recessive Lisenka Vissers (Nijmegen, Netherlands),
Anneke Vulto-van Silfhout (Nijmegen, Netherlands),
Maria Nabais Sá (Nijmegen, Netherlands),
Philip Jensik (Carbondale, United States),
Bert de Vries (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands)
DHX30 Davor Lessel (Hamburg, Germany)
DNMT3A Kate Tatton-Brown (London, United Kingdom)
DNMT3A gain of function Lex Dingemans (Nijmegen, Netherlands)
DOCK6 Ranad Shaheen (Riyadh, Saudi Arabia),
Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
DYRK1A Raghu Prajapati (AHMEDABAD, India),
Bregje Bon (Nijmegen, Netherlands),
Evan Eichler (Seattle, United States)
EBF3 Hsiao-Tuan Chao (Houston, United States),
Michael F. Wangler (Houston, United States)
EHMT1 Lex Dingemans (Nijmegen, Netherlands)
EIF2AK1 Hsiao-Tuan Chao (Houston, United States),
Joshi Stephen (Maryland, United States),
Vanesa Lerma (Houston, United States)
EIF2AK2 Hsiao-Tuan Chao (Houston, United States),
Joshi Stephen (Maryland, United States),
Vanesa Lerma (Houston, United States)
ELMO2 Nurten Akarsu (Ankara, Turkey),
Arda Cetinkaya (Istanbul, Turkey)
ELOVL4 Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
ELOVL5 Alfredo Brusco (Torino, Italy),
Barbara Borroni (Brescia, Italy)
ENPP1 Carlos R. Ferreira (Washington, DC, United States)
EOGT Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
ERAL1 William G. Newman (Manchester, United Kingdom),
Leigh A.M. Demain (Manchester, United Kingdom)
EZH2 Kate Tatton-Brown (London, United Kingdom)
FAM111B Sébastien Küry (Nantes, France),
Sandra Mercier (Nantes, France)
FAM149B1 Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
FBXL4 Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
FBXO11 Sandra Jansen (Nijmegen, Netherlands),
Lennart Slagter (Nijmegen, Netherlands)
FOXP1 Bert Callewaert (Ghent, Belgium),
Saskia Koene (Leiden, Netherlands)
FOXP2 Angela Morgan (Melbourne, Australia),
Simon Fisher (Nijmegen, Netherlands)
GLI2 Christèle Dubourg (Rennes, France),
Sylvie Odent (Rennes, France),
Alinoë Lavillaureix (Rennes, France)
GMNN Ernie Bongers (Nijmegen, Netherlands)
GMPPA Christian A. Hübner (Jena, Germany)
GNB1 Kwame Anyane-Yeboa (New York, United States),
Anya Revah-Politi (New York, United States)
GPT2 Eric M. Morrow (Providence, United States),
Brian C. Kavanaugh (Providence, United States)
GRIN1 Johannes Lemke (Leipzig, Germany),
Ilona Krey (Leipzig, Germany)
GRIN2A Johannes Lemke (Leipzig, Germany),
Ilona Krey (Leipzig, Germany)
GRIN2B Johannes Lemke (Leipzig, Germany),
Ilona Krey (Leipzig, Germany)
GRIN2D Johannes Lemke (Leipzig, Germany),
Ilona Krey (Leipzig, Germany)
GZF1 Nisha Patel (Riyadh, Saudi Arabia),
Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
HCN1 Christel Depienne (Essen, Germany),
Carla Marini (Florence, Italy)
HERC1 Ashwin Dalal (Hyderabad, India),
Shagun Aggarwal (Hyderabad, India),
Aneek Das Bhowmik (Hyderabad, India)
HIST1H1E Kate Tatton-Brown (London, United Kingdom)
HIVEP2 Siddharth Srivastava (Boston, United States),
Sakkubai Naidu (Baltimore, United States)
HNF1B J.H.F. de Baaij (Nijmegen, Netherlands),
J.G.J. Hoenderop (Nijmegen, Netherlands)
HNRNPK Petra Zwijnenburg (Amsterdam, Netherlands)
IKBKG/NEMO Matilde Valeria Ursini (Naples, Italy),
Francesca Fusco (Naples, Italy)
IQSEC2 Tracy Dudding-Byth (Waratah, Australia),
Emma Palmer (Sydney, Australia),
Cheryl Shoubridge (Adelaide, Australia),
Jackie Boyle (Waratah, Australia),
Jessica Radley (London, United Kingdom)
IRF2BPL Loren Pena (Cincinnati, United States),
Vandana Shashi (Durham, United States),
Becky Spillmann (Durham, United States),
Paul C. Marcogliese (Houston, United States),
Hugo Bellen (Houston, United States)
ISCA2 Namik Kaya (Riyadh, Saudi Arabia),
Zuhair AlHassnan (Riyadh, Saudi Arabia),
Mazhor S. Aldosary (Riyadh, Saudi Arabia),
Dilek Colak (Riyadh, Saudi Arabia),
Rawan Almass (Riyadh, Saudi Arabia),
Maysoon Alsagob (Riyadh, Saudi Arabia)
KANSL1 David Koolen (Nijmegen, Netherlands),
Bert de Vries (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands),
Evan Eichler (Seattle, United States)
KAT6B Ernie Bongers (Nijmegen, Netherlands),
Jill Clayton-Smith (Manchester, United Kingdom)
KCNA4 Namik Kaya (Riyadh, Saudi Arabia),
Mohamed Al-Owain (Riyadh, Saudi Arabia),
Dilek Colak (Riyadh, Saudi Arabia),
Albandary AlBakheet (Riyadh, Saudi Arabia),
Rawan Almass (Riyadh, Saudi Arabia),
Maysoon Alsagob (Riyadh, Saudi Arabia)
KCNK9 Matthew Deardorff (Los Angeles, United States),
John M. Graham Jr. (Los Angeles, United States),
Margot A. Cousin (Rochester, United States),
Emma L. Veale (Chatham Maritime, United Kingdom)
KCNT2 Emma Palmer (Sydney, Australia),
Arin Bhattacharjee (Buffalo, United States),
Rebecca Macintosh (Sydney, Australia)
KDELR2 Dimitra Micha (Amsterdam, Netherlands),
Alessandra Maugeri (Amsterdam, Netherlands),
Mariet Elting (Amsterdam, Netherlands),
Marelise Eekhoff (Amsterdam, Netherlands)
KDM3B Lex Dingemans (Nijmegen, Netherlands)
KIAA1109 Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
KLHL24 Cristina Has (Freiburg, Germany)
KMT2B Manju Kurian (London, United Kingdom),
Kathleen Gorman (London, United Kingdom)
LAMA5 Simone Sampaolo (Naples, Italy),
Chiara Terracciano (Naples, Italy),
Teresa Esposito (Naples, Italy),
Filomena Napolitano (Naples, Italy),
Marina Melone (Naples, Italy),
Giovanni Iolascon (Naples, Italy)
LARP7 Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
LARS2 William G. Newman (Manchester, United Kingdom),
Leigh A.M. Demain (Manchester, United Kingdom)
LIS1 Renzo Guerrini (Florence, Italy),
Elena Parrini (Florence, Italy)
LMAN2L Rafiullah Rafiullah (Riyadh, Saudi Arabia),
Hazrat Ali Khan (Quetta, Pakistan)
LMNB1 Hilde Van Esch (Leuven, Belgium),
Rich Steet (Greenwood, United States)
LRP2 Barbara R. Pober (Boston, United States),
Mauro Longoni (Boston, United States)
LRPAP1 Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
MAGEL2 Michael Fountain (Houston, United States),
Michael Fountain (Houston, United States),
Christian Schaaf (Houston, United States),
Megan Rech (Houston, United States)
MECP2 duplication Hilde Van Esch (Leuven, Belgium)
MED12 Michael Lyons (North Charleston, United States),
Mike Friez (Greenwood, United States)
MED13L Anita Rauch (Schlieren-Zurich, Switzerland),
Reza Asadollahi (Schlieren-Zurich, Switzerland)
MEF2C Sofia Douzgou (Manchester, United Kingdom),
Florence Riccardi (Marseille, France)
MEOX1 Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
MFF Hanan E Shamseldin (Riyadh, Saudi Arabia),
Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
MMUT Jean-François Benoist (Paris, France)
MN1 Brian Hon Yin Chung (Hong Kong, Hong Kong),
Chris Gordon (Paris, France),
Christopher Mak (Hong Kong, Hong Kong)
MORC2 Maria J. Guillen Sacoto (Gaithersburg, United States)
MPDZ Ranad Shaheen (Riyadh, Saudi Arabia),
Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
MTOR Bill Dobyns (Seattle, United States),
Ghayda Mirzaa (Seattle, United States)
MYT1L Björn Menten (Gent, Belgium),
Alisdair McNeill (Sheffield, United Kingdom),
Raghu Prajapati (AHMEDABAD, India),
David Koolen (Nijmegen, Netherlands)
NAA10 Gholson Lyon (New York, United States)
NAA15 Gholson Lyon (New York, United States)
NACC1 Vandana Shashi (Durham, United States),
Kelly Schoch (Durham, United States),
Michael Wangler (Houston, United States)
NCOR2 Philippe Campeau (Monteral, Canada)
NDUFA6 Charlotte Alston (Newcastle upon Tyne, United Kingdom),
Robert McFarland (Newcastle upon Tyne, United Kingdom),
Robert Taylor (Newcastle upon Tyne, United Kingdom)
NDUFAF8 Charlotte Alston (Newcastle upon Tyne, United Kingdom),
David J. Pagliarini (St Louis, United States),
Robert McFarland (Newcastle upon Tyne, United Kingdom),
Robert Taylor (Newcastle upon Tyne, United Kingdom)
NDUFS6 Cécile Rouzier (Nice, France),
Annabelle Chaussenot (Nice, France)
NECAP1 Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
NGF Geoffey Woods (Cambridge, United Kingdom)
NKAP Kosuke Izumi (Philadelphia, United States),
Alyssa Ritter (Philadelphia, United States)
NKX6-2 Viorica Chelban (London, United Kingdom),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
NR2F1 Danielle Bosch (Nijmegen, Netherlands),
Christian Schaaf (Houston, United States)
NR5A1 Martine Cools (Ghent, Belgium),
Elfride De Baere (Ghent, Belgium),
Dorien Baetens (Ghent, Belgium)
NRROS John Christodoulou (Melbourne, Australia),
Sue White (Melbourne, Australia)
NSD1 Kate Tatton-Brown (London, United Kingdom),
Raghu Prajapati (AHMEDABAD, India)
NTRK1 Geoffey Woods (Cambridge, United Kingdom)
OFD1 Brunella Franco (Naples, Italy)
PACS1 Han Brunner (Nijmegen, Netherlands),
Janneke Schuurs-Hoeijmakers (Nijmegen, Netherlands)
PCDH19 Jozef Gecz (Adelaide, Australia),
Emma Palmer (Sydney, Australia),
Kristy Kolc (Adelaide, Australia),
Ingrid Scheffer (Melbourne, Australia),
Lynette Sadleir (Wellington, New Zealand)
PCGF2 Peter Turnpenny (Exeter, United Kingdom),
Andrew Fry (Cardiff, United Kingdom)
PEPD Heng Wang (Middlefield, United States),
Baozhong Xin (Middlefield, United States),
Sarah Ossler (Middlefield, United States)
PGAP1 Yoshiko Murakami (Osaka, Japan),
Taroh Kinoshita (Osaka, Japan)
PHGDH Ranad Shaheen (Riyadh, Saudi Arabia),
Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
PHIP Shahid ajmeri (AHMEDABAD, India),
Sandra Jansen (Nijmegen, Netherlands),
Alexander Hoischen (Nijmegen, Netherlands),
Bert de Vries (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands)
PIEZO2 Brunhilde Wirth (Cologne, Germany),
Raoul Heller (Auckland, New Zealand),
Mert Karakaya (Cologne, Germany),
Andrea Delle Vedove (Cologne, Germany)
PIK3CA Bill Dobyns (Seattle, United States),
Ghayda Mirzaa (Seattle, United States)
PIK3R2 Bill Dobyns (Seattle, United States),
Ghayda Mirzaa (Seattle, United States)
PLOD3 Lisa Ewans (Sydney, Australia),
Tony Roscioli (Kensington, Australia),
David Sillence (Sydney, Australia),
Frederico Forneris (Pavia, Italy)
POC1A Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
POGZ Marjolein Willemsen (Nijmegen, Netherlands),
Evan Eichler (Seattle, United States)
PPM1D Sandra Jansen (Nijmegen, Netherlands),
Lisenka Vissers (Nijmegen, Netherlands),
Cynthia Curry (Fresno, United States),
Lennart Slagter (Nijmegen, Netherlands),
Bert de Vries (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands)
PPP2CA Sandra Jansen (Nijmegen, Netherlands),
Lisenka Vissers (Nijmegen, Netherlands),
Lennart Slagter (Nijmegen, Netherlands)
PRDM12 Geoffey Woods (Cambridge, United Kingdom)
PRDM16 Sabine Klaassen (Berlin, Germany),
Jirko Kühnisch (Berlin, Germany)
PRKAR1A Rachel Wurth (Maryland, United States),
Fady Hannah-Shmouni (Maryland, United States),
Fabio R. Faucz (Maryland, United States),
Constantine A. Stratakis (Maryland, United States)
PRMT7 Marcello Scala (Genoa, Italy),
Reza Maroofian (London, United Kingdom),
Elisa Calí (London, United Kingdom)
PRUNE1 Claudia Gonzaga-Jauregui (Tarrytown, United States)
PSMD12 Sébastien Küry (Nantes, France),
Pawel Stankiewicz (Houston, United States),
Bertrand Isidor (Nantes, France)
PTPN23 Jannette Mailo (Alberta, Canada),
Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
PUM1 Emma Palmer (Sydney, Australia),
Vincenzo Alessandro Gennarino (New York, United States),
Jimmy Lloyd Holder (Houston, United States)
PURA Diana Baralle (Southhampton, United Kingdom),
Dierk Niessing (Munich/Ulm, Germany),
Margot Reijnders (Maastricht, Netherlands),
Jennifer Gordon (Philadelphia, United States)
PUS3 Ranad Shaheen (Riyadh, Saudi Arabia),
Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
RAC3 Tiong Yang Tan (Melbourne, Australia),
Valentin Ruault (Montpellier, France)
RBM10 John Carey (Salt Lake City, United States),
Colleen M. Carlston (San Francisco, United States)
RNASET2 Jutta Gärtner (Göttingen, Germany),
Marco Henneke (Göttingen, Germany),
Matthias Kettwig (Göttingen, Germany)
RORA Sébastien Küry (Nantes, France),
Laurent Pasquier (Rennes, France),
Erica Davis (Durham, United States),
Michel Koenig (Montpellier, France),
Gaëtan Lesca (Lyon, France)
RSPRY1 Maha A. Faden (Riyadh, Saudi Arabia),
Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
RTTN Hanan E Shamseldin (Riyadh, Saudi Arabia),
Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
RUSC2 Ali Hassan Alwadei (Riyadh, Saudi Arabia)
SATB2 Yuri Zarate (Little Rock (AR), United States)
SCAPER Tamar Ben-Yosef (Haifa, Israel)
SCN11A Geoffey Woods (Cambridge, United Kingdom)
SCN2A Katherine Howell (Melbourne, Australia),
Emma Palmer (Sydney, Australia),
Michael Hildebrand (Melbourne, Australia)
SCN9A Geoffey Woods (Cambridge, United Kingdom)
SERAC1 Arjan Brouwer (Nijmegen, Netherlands),
Saskia Wortmann (Nijmegen, Netherlands)
SETBP1 Evan Eichler (Seattle, United States)
SETBP1 related developmental delay Bregje Bon (Nijmegen, Netherlands)
SETBP1 Schinzel-Giedion syndrome Bregje Bon (Nijmegen, Netherlands)
SHANK1 Thomas Bourgeron (Paris, France),
Richard Delorme (Paris, France),
Gudrun A. Rappold (Heidelberg, Germany),
Simone Berkel (Heidelberg, Germany)
SHANK2 Gudrun A. Rappold (Heidelberg, Germany),
Richard Delorme (Paris, France),
Thomas Bourgeron (Paris, France),
Simone Berkel (Heidelberg, Germany)
SHANK3 Simone Berkel (Heidelberg, Germany),
Richard Delorme (Paris, France),
Thomas Bourgeron (Paris, France),
Gudrun A. Rappold (Heidelberg, Germany)
SHH Christèle Dubourg (Rennes, France),
Sylvie Odent (Rennes, France),
Alinoë Lavillaureix (Rennes, France)
SHOX2 Gudrun A. Rappold (Heidelberg, Germany),
Sandra Hoffmann (Heidelberg, Germany)
SIK1 Bill Dobyns (Seattle, United States),
Alex Paciorkowski (New York, United States)
SKI Dorien Schepers (Antwerp, Belgium),
Bart Loeys (Antwerp, Belgium)
SLC45A1 Myriam Srour (Montreal, Canada),
Sarah Alsubhi (Montreal, Canada)
SMAD3 Dorien Schepers (Antwerp, Belgium),
Bart Loeys (Antwerp, Belgium)
SMARCA4 Gijs Santen (Leiden, Netherlands),
Eline van der Sluijs (Leiden, Netherlands)
SMARCB1 Emma Clement (London, United Kingdom),
Cristina Dias (London, United Kingdom)
SMARCC2 Philippe Campeau (Monteral, Canada),
Vandana Shashi (Durham, United States),
Keren Machol (Houston, United States)
SMG8 Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
SMG9 Ranad Shaheen (Riyadh, Saudi Arabia),
Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
SMS Angela Peron (Salt Lake City, United States),
Charles E. Schwartz (Greenwood, United States)
SON Lisenka Vissers (Nijmegen, Netherlands),
John Carey (Salt Lake City, United States),
Eun-Young Erin Ahn (Mobile, United States)
SOX4 Claudio Graziano (Bologna, Italy),
Veronique Lefebvre (Philadelphia, United States)
SOX6 Cedric le Caignec (Toulouse, France),
Veronique Lefebvre (Philadelphia, United States)
SPOP Lex Dingemans (Nijmegen, Netherlands)
SRCAP Jane Hurst (London, United Kingdom),
Lara Menzies (London, United Kingdom)
STXBP1 Mieke Haelst (Amsterdam, Netherlands),
Matthijs Verhage (Amsterdam, Netherlands),
Mala Misra-Isrie (Amsterdam, Netherlands),
Jovana Kovacevic (Amsterdam, Netherlands)
SUCLA2 Ron A. Wevers (Nijmegen, Netherlands),
Ulrike Steuerwald (Tórshavn, Faroe Islands),
Carlo Dionisi-Vici (Rome, Italy)
SUCLG1 Cécile Rouzier (Nice, France),
Annabelle Chaussenot (Nice, France)
SYT1 Kate Baker (Cambridge, United Kingdom),
Anna Kolesnik-Taylor (Cambridge, United Kingdom)
TAF1 Gholson Lyon (New York, United States)
TAF6 Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
TBC1D24 Philippe Campeau (Monteral, Canada),
Sanjay Sisodiya (London, United Kingdom)
TBCK Elizabeth Bhoj (Philadelphia, United States),
Xilma Ortiz-Gonzalez (Philadelphia, United States),
Raghu Prajapati (AHMEDABAD, India)
TBX4 Ernie Bongers (Nijmegen, Netherlands)
TGFB3 Aline Verstraeten (Antwerp, Belgium)
THOC2 Michael Field (Waratah, Australia),
Jozef Gecz (Adelaide, Australia),
Emma Palmer (Sydney, Australia),
Jackie Boyle (Waratah, Australia),
Raman Kumar (Adelaide, Australia)
TMEM126B Charlotte Alston (Newcastle upon Tyne, United Kingdom),
Robert McFarland (Newcastle upon Tyne, United Kingdom),
Robert Taylor (Newcastle upon Tyne, United Kingdom)
TMEM231 Ranad Shaheen (Riyadh, Saudi Arabia),
Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
TMEM94 Joshi Stephen (Maryland, United States),
Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
TNIK Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
TRIO Diana Baralle (Southhampton, United Kingdom),
Lisenka Vissers (Nijmegen, Netherlands),
Lisenka Vissers (Nijmegen, Netherlands),
Konstantinos Varvagiannis (Athens, Greece),
Bert de Vries (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands)
TRIP12 Nuria Brämswig (Essen, Germany),
Dagmar Wieczorek (Düsseldorf, Germany)
TRIP4 Ana Ferreiro (Paris, France),
Isabelle Duband-Goulet (Paris, France),
Rocío Nur Villar Quiles (Paris, France)
TRMT1 Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
TSEN15 Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
UGDH Saumya Shekhar Jamuar (Singapore),
Bruno Reversade (Singapore)
UNC45A Laurence Faivre (Dijon, France),
Caroline Racine (Dijon, France)
UNC80 Hanan E Shamseldin (Riyadh, Saudi Arabia),
Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
UROC1 Rafael Artuch (Barcelona, Spain),
Carmen Espinós (Valencia, Spain)
USP7 Christian Schaaf (Houston, United States),
Pilar Caro (Heidelberg, Germany)
VPS13B Heng Wang (Middlefield, United States),
Baozhong Xin (Middlefield, United States),
Sarah Ossler (Middlefield, United States)
WAC Lisenka Vissers (Nijmegen, Netherlands),
Konstantinos Varvagiannis (Athens, Greece),
Bert de Vries (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands)
WDR26 Matthew Deardorff (Los Angeles, United States),
Cara Skraban (Philadelphia, United States)
WDR81 Ranad Shaheen (Riyadh, Saudi Arabia),
Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
WWOX Rami Aqeilan (Jerusalem, Israel)
YY1 Michele Gabriele (Milan, Italy),
Giuseppe Testa (Milan, Italy),
David Koolen (Nijmegen, Netherlands),
Bert de Vries (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands)
ZDHHC9 Kate Baker (Cambridge, United Kingdom),
Anna Kolesnik-Taylor (Cambridge, United Kingdom)
ZFHX4 María Palomares Bralo (Madrid, Spain),
Bert Callewaert (Ghent, Belgium),
Sixto García-Miñaúr (Madrid, Spain),
Fernando Santos-Simarro (Madrid, Spain),
Sarah Vergult (Ghent, Belgium)
ZIC1 Steve Twigg (Oxford, United Kingdom),
Andrew Wilkie (Oxford, United Kingdom),
Debbie Shears (Oxford, United Kingdom)
ZMYND11 Evan Eichler (Seattle, United States)
ZNF148 Abdallah F Elias (Montana, United States),
Servi JC Stevens (Maastricht, Netherlands)
ZNF711 Frank Kooy (Antwerp, Belgium),
Anke Van Dijck (Antwerp, Belgium)
ZSWIM6 Michael Field (Waratah, Australia),
Jozef Gecz (Adelaide, Australia),
Emma Palmer (Sydney, Australia),
Raman Kumar (Adelaide, Australia),
Lucinda Murray (Sydney, Australia)

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