Name Moderators
ABAT Phillip Pearl (Boston, United States),
Michael Gibson (Spokane, United States),
Melissa DiBacco (Boston, United States)
ABCA2 Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
ACER3 Cungui Mao (New York, United States)
ACTL6A Ronit Marom (Houston, United States),
Mari Tokita (San Diego, United States)
ACTL6B Philippe Campeau (Monteral, Canada)
ACTL6B dominant Philippe Campeau (Monteral, Canada)
ACTL6B recessive Carl Ernst (Montreal, Canada),
Philippe Campeau (Monteral, Canada)
ADAMTSL2 Merlin Butler (Kansas City, United States)
ADAMTSL2 autosomal dominant Merlin Butler (Kansas City, United States)
ADAMTSL2 autosomal recessive Merlin Butler (Kansas City, United States)
ADAT3 Shital Tester (Ahmedabad, India),
Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
ADGRB3 Corrado Romano (Troina, Italy),
Marco Fichera (Catania, Italy)
ADGRG6 Gina Ravenscroft (Perth, Australia)
ADNP Frank Kooy (Antwerp, Belgium),
Anke Van Dijck (Antwerp, Belgium),
Evan Eichler (Seattle, United States),
Lex Dingemans (Nijmegen, Netherlands),
Bert de Vries (Nijmegen, Netherlands)
AHDC1 Shital Tester (Ahmedabad, India),
Margje Sinnema (Maastricht, Netherlands),
Sander Stegmann (Maastricht, Netherlands),
Vasudevan Pradeep (Leicester, United Kingdom)
AKT3 Bill Dobyns (Seattle, United States),
Ghayda Mirzaa (Seattle, United States)
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)
ANKH Ernst Reichenberg (Farmington, United States),
I-ping Chen (Farmington, United States),
Charlene Williams (Camden, United States),
Thomas Carpenter (New Haven, United States)
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)
AP4B1 Darius Ebrahimi-Fakhari (Boston, United States)
AP4E1 Darius Ebrahimi-Fakhari (Boston, United States)
AP4M1 Darius Ebrahimi-Fakhari (Boston, United States)
AP4S1 Darius Ebrahimi-Fakhari (Boston, United States)
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),
Lex Dingemans (Nijmegen, Netherlands),
Bert de Vries (Nijmegen, 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)
ATP1A1 Francesco Nicita (Rome, Italy)
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)
ATXN2L Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
AUTS2 Gea Beunders (Amsterdam, Netherlands),
Erik Sistermans (Amsterdam, Netherlands)
BCAP31 Laurent Villard (Marseille, France),
Sandra Whalen (Paris, France)
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)
BSCL2 Adolfo Lopez de Munain (San Sebastian, Spain),
Gorka Fernández-Eulate (Paris, France),
Aurora Pujol (Barcelona, Spain)
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 Geeske van Woerden (Rotterdam, Netherlands),
Sandra Mercier (Nantes, France),
Sébastien Küry (Nantes, France)
CAMK2B Geeske van Woerden (Rotterdam, Netherlands),
Sandra Mercier (Nantes, France),
Sébastien Küry (Nantes, France)
CCDC186 Ingo Borggräfe (Munich, Germany),
Matias Wagner (Munich, Germany),
Melanie Brugger (Munich, Germany)
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)
CEP57 Fernando Santos-Simarro (Madrid, Spain),
Marta Miguez (Madrid, Spain),
María Palomares Bralo (Madrid, Spain),
Anna Mª Cueto-González (Barcelona, Spain)
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),
Evan Eichler (Seattle, United States),
Kim Truijen,
Lex Dingemans (Nijmegen, Netherlands),
Bert de Vries (Nijmegen, Netherlands)
CHKB Brian Hon Yin Chung (Hong Kong, Hong Kong),
Ichizo Nishino (Tokyo, Japan),
Sophelia Chan (Hong Kong, Hong Kong)
CHR1Q21 Heather Mefford (Seattle, United States),
Evan Eichler (Seattle, United States)
CHRNG Andres Nascimento (Barcelona, Spain),
Daniel Natera de Benito (Barcelona, Spain)
CHST3 Somya Srivastava (Lucknow, India),
Shubha R Phadke (Lucknow, India)
CIC Huda Zoghbi (Houston, United States),
Mark Durham (Houston, United States)
CLCN4 Vera Kalscheuer (Berlin, Germany),
Emma Palmer (Sydney, Australia)
CLDN11 Sylvia Stockler (Vancouver, Canada),
Korbinian Riedhammer (Munich, Germany),
Simone Race (Vancouver, Canada)
CLN5 Stephanie Efthymiou (London, United Kingdom),
Henry Houlden (London, United Kingdom)
CLP1 Ender Karaca (Birmingham, United States),
James R. Lupski (Houston, United States)
CLPP Leigh A.M. Demain (Manchester, United Kingdom),
William G. Newman (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)
CSNK1G1 Elizabeth Bhoj (Philadelphia, United States),
Nina B. Gold (Boston, United States)
CTNNB1 Stephanie Ho (Hong Kong, China),
Ho-ming Luk (Hong Kong, China),
Ivan Fai-man Lo (Hong Kong, China),
Mandy Tsang (Hong Kong, Hong Kong),
Brian Hon Yin Chung (Hong Kong, Hong Kong)
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)
DCC Ashley Pamela Lesle Marsh (Melbourne, Australia),
Saumya Shekhar Jamuar (Singapore)
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 Anneke Vulto-van Silfhout (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands),
Lisenka Vissers (Nijmegen, Netherlands),
Philip Jensik (Carbondale, United States),
Bert de Vries (Nijmegen, Netherlands),
Maria Nabais Sá (Nijmegen, Netherlands)
DEAF1 autosomal dominant Anneke Vulto-van Silfhout (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands),
Lisenka Vissers (Nijmegen, Netherlands),
Philip Jensik (Carbondale, United States),
Bert de Vries (Nijmegen, Netherlands),
Maria Nabais Sá (Nijmegen, Netherlands)
DEAF1 autosomal recessive Anneke Vulto-van Silfhout (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands),
Lisenka Vissers (Nijmegen, Netherlands),
Philip Jensik (Carbondale, United States),
Bert de Vries (Nijmegen, Netherlands),
Maria Nabais Sá (Nijmegen, Netherlands)
DEGS1 Agusti Rodriguez-Palmero (Badalona, Spain),
Aurora Pujol (Barcelona, Spain)
Deletion 22q11 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)
DOCK7 Dilşad Türkdoğan (Istanbul, Turkey)
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)
EML1 Maarten Lequin (Utrecht, Netherlands),
Renske Oegema (Utrecht, Netherlands)
ENPP1 Carlos R. Ferreira (Washington, DC, United States)
EOGT Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
ERAL1 Leigh A.M. Demain (Manchester, United Kingdom),
William G. Newman (Manchester, United Kingdom)
EZH2 Kate Tatton-Brown (London, United Kingdom)
FAM111B Sandra Mercier (Nantes, France),
Sébastien Küry (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),
Lisenka Vissers (Nijmegen, Netherlands),
Bert de Vries (Nijmegen, Netherlands)
FOXP1 Bert Callewaert (Ghent, Belgium),
Saskia Koene (Leiden, Netherlands)
FOXP2 Angela Morgan (Melbourne, Australia),
Simon Fisher (Nijmegen, Netherlands)
FOXP3 Queenie K-G Tan (Durham, United States),
Raymond J Louie (Greenwood, United States)
GABBR2 Yuri Zarate (Little Rock (AR), United States),
Debopam Samanta (Little Rock, United States)
GATA3 Sajel Lala Kana (Miami, United States),
Amin J. Barakat (Washington, DC, United States)
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)
HARS2 Leigh A.M. Demain (Manchester, United Kingdom),
William G. Newman (Manchester, United Kingdom)
HCN1 Carla Marini (Florence, Italy),
Christel Depienne (Essen, Germany)
HEATR5B Martin Breuss (Aurora, United States)
HERC1 Ashwin Dalal (Hyderabad, India),
Shagun Aggarwal (Hyderabad, India),
Aneek Das Bhowmik (Hyderabad, India)
HEY2 Eva van Walree (Amsterdam, Netherlands),
Inge Mathijssen (Amsterdam, Netherlands)
HHAT Katta Mohan Girisha (Udupi, India),
Shruti Pande (Udupi, 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)
HPSE2 William G. Newman (Manchester, United Kingdom)
IKBKG/NEMO Matilde Valeria Ursini (Naples, Italy),
Francesca Fusco (Naples, Italy)
IL1RAPL1 Carlo Sala (Milano, Italy)
INTS1 Anne Slavotinek (San Francisco, United States)
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),
Evan Eichler (Seattle, United States),
Lex Dingemans (Nijmegen, Netherlands),
Bert de Vries (Nijmegen, Netherlands)
KAT6B Ernie Bongers (Nijmegen, Netherlands),
Jill Clayton-Smith (Manchester, United Kingdom)
KCNA1 Agusti Rodriguez-Palmero (Badalona, Spain),
Aurora Pujol (Barcelona, Spain)
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)
KCNH1 Michael Gabbett (Brisbane, Australia)
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)
KCNN2 Christel Depienne (Essen, Germany),
Fanny Mochel (Paris, France)
KCNN3 Lukáš Ryba (Prague, Czech Republic),
Markéta Havlovicová (Prague, Czech Republic),
Martin Schwarz (Prague, Czech Republic)
KCNQ2 Maurizio Taglialatela (Naples, Italy),
Sarah Weckhuysen (Antwerp, Belgium)
KCNQ3 Maurizio Taglialatela (Naples, Italy),
Sarah Weckhuysen (Antwerp, Belgium)
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)
LAMB1 Autosomal Dominant Hélène Morel (Paris, France),
Dominique Herve (Paris, France)
LARP7 Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
LARS2 Leigh A.M. Demain (Manchester, United Kingdom),
William G. Newman (Manchester, United Kingdom)
LIFR Fernando Santos-Simarro (Madrid, Spain),
Sofía Siccha Arancibia (Barcelona, Spain)
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)
LRIG2 William G. Newman (Manchester, United Kingdom)
LRP2 Barbara R. Pober (Boston, United States),
Mauro Longoni (Boston, United States)
LRPAP1 Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
LSS Thomas Besnard (Nantes, France),
Bertrand Isidor (Nantes, France)
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)
MEIS2 Andrea Gangfuß (Essen, Germany),
Dorothea Schulte (Frankfurt, Germany),
Maria J. Guillen Sacoto (Gaithersburg, United States)
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 Chris Gordon (Paris, France),
Christopher Mak (Hong Kong, Hong Kong),
Brian Hon Yin Chung (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)
MSL3 Theresa Brunet (Munich, Germany),
Matias Wagner (Munich, Germany)
MTOR Bill Dobyns (Seattle, United States),
Ghayda Mirzaa (Seattle, United States)
MYH3 Anna Hakonen (Helsinki, Finland)
MYH3 autosomal dominant Anna Hakonen (Helsinki, Finland)
MYH3 autosomal recessive Anna Hakonen (Helsinki, Finland)
MYO18B Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
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)
NARS1 Stephanie Efthymiou (London, United Kingdom),
Henry Houlden (London, United Kingdom)
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)
NFASC Stephanie Efthymiou (London, United Kingdom),
Henry Houlden (London, United Kingdom)
NFIX Shubha R Phadke (Lucknow, India),
Haseena Sait (Lucknow, India)
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)
NSRP1 Daniel Calame (Houston, United States),
James R. Lupski (Houston, United States)
NTRK1 Geoffey Woods (Cambridge, United Kingdom)
OFD1 Brunella Franco (Naples, Italy)
OXR1 Philippe Campeau (Monteral, Canada),
Coralie Michaud (Montreal, Canada)
P4HTM Elisa Rahikkala (Oulu, Finland),
Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
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)
PERP recessive Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
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),
Alexander Hoischen (Nijmegen, Netherlands),
Sandra Jansen (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands),
Bert de Vries (Nijmegen, Netherlands)
PI4KA Agusti Rodriguez-Palmero (Badalona, Spain),
Aurora Pujol (Barcelona, Spain)
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)
POLR3GL Éliane Beauregard-Lacroix (Montreal, Canada),
Philippe Campeau (Monteral, Canada)
PPM1D Cynthia Curry (Fresno, United States),
Lennart Slagter (Nijmegen, Netherlands),
Sandra Jansen (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands),
Lisenka Vissers (Nijmegen, Netherlands),
Bert de Vries (Nijmegen, Netherlands)
PPP2CA Lennart Slagter (Nijmegen, Netherlands),
Sandra Jansen (Nijmegen, Netherlands),
Lisenka Vissers (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)
PRORP William G. Newman (Manchester, United Kingdom)
PRUNE1 Claudia Gonzaga-Jauregui (Tarrytown, United States)
PSMD12 Pawel Stankiewicz (Houston, United States),
Bertrand Isidor (Nantes, France),
Sébastien Küry (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)
QRICH1 Silke Redler (Düsseldorf, Germany)
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)
RBM28 Filippo Pinto e Vairo (Rochester, United States),
Susan Baserga (New Haven, United States)
RNASET2 Jutta Gärtner (Göttingen, Germany),
Marco Henneke (Göttingen, Germany),
Matthias Kettwig (Göttingen, Germany)
RNF113A Anne Slavotinek (San Francisco, United States)
RNU4ATAC Philippe Campeau (Monteral, Canada),
Coralie Michaud (Montreal, Canada)
RORA Laurent Pasquier (Rennes, France),
Erica Davis (Durham, United States),
Michel Koenig (Montpellier, France),
Gaëtan Lesca (Lyon, France),
Sébastien Küry (Nantes, 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)
SEC24D Keiichi Ozono (Osaka, Japan),
Shinji Takeyari (Osaka, Japan)
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)
SHMT2 Agusti Rodriguez-Palmero (Badalona, Spain),
Aurora Pujol (Barcelona, Spain)
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)
SLC12A6 Joohyun Park (Tübingen, Germany),
Tobias B. Haack (Tübingen, Germany)
SLC18A3 Anna Hakonen (Helsinki, Finland)
SLC45A1 Myriam Srour (Montreal, Canada),
Sarah Alsubhi (Montreal, Canada)
SLC6A9 Irene Mademont-Soler (Girona, Spain),
Dolors Casellas-Vidal (Girona, Spain)
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 Vandana Shashi (Durham, United States),
Keren Machol (Houston, United States),
Philippe Campeau (Monteral, Canada)
SMARCD1 Philippe Campeau (Monteral, Canada),
Coralie Michaud (Montreal, Canada)
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 John Carey (Salt Lake City, United States),
Eun-Young Erin Ahn (Mobile, United States),
Lisenka Vissers (Nijmegen, Netherlands)
SOX4 Claudio Graziano (Bologna, Italy),
Veronique Lefebvre (Philadelphia, United States)
SOX6 Cedric le Caignec (Toulouse, France),
Veronique Lefebvre (Philadelphia, United States)
SPOP Bert de Vries (Nijmegen, Netherlands),
Maria Nabais Sá (Nijmegen, Netherlands)
SPOP GoF Bert de Vries (Nijmegen, Netherlands),
Maria Nabais Sá (Nijmegen, Netherlands)
SPOP LoF Anneke Vulto-van Silfhout (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands),
Lisenka Vissers (Nijmegen, Netherlands),
Philip Jensik (Carbondale, United States),
Bert de Vries (Nijmegen, Netherlands),
Maria Nabais Sá (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)
TANGO2 Kuntal Sen (Washington, DC, United States),
Andrea L. Gropman (Washington, DC, United States)
TBC1D24 Sanjay Sisodiya (London, United Kingdom),
Philippe Campeau (Monteral, Canada)
TBCK Xilma Ortiz-Gonzalez (Philadelphia, United States),
Raghu Prajapati (AHMEDABAD, India),
Elizabeth Bhoj (Philadelphia, United States)
TBR1 Olaf Bodamer (Boston, United States),
Sophie Nambot (Dijon, France),
Hannelore Ehrenreich (Göttingen, Germany)
TBX4 Ernie Bongers (Nijmegen, Netherlands)
TCOF1 Ariane Schmetz (Düsseldorf, Germany),
Dagmar Wieczorek (Düsseldorf, Germany)
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)
TPP2 Isis Atallah (Lausanne, Switzerland),
Andrea Superti-Furga (Lausanne, Switzerland)
TRIO Diana Baralle (Southhampton, United Kingdom),
Konstantinos Varvagiannis (Athens, Greece),
Lex Dingemans (Nijmegen, Netherlands),
Lisenka Vissers (Nijmegen, Netherlands),
Bert de Vries (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)
TRRAP Philippe Campeau (Monteral, Canada),
Coralie Michaud (Montreal, Canada),
Sébastien Küry (Nantes, France),
Benjamin Cogné (Nantes, France)
TSEN15 Fadie D. Altuame (Riyadh, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
TUBB2A Stefanie Brock (Brussels, Belgium),
Anna Jansen (Antwerp, Belgium)
TXNL4A William G. Newman (Manchester, United Kingdom)
UGDH Bruno Reversade (Singapore),
Saumya Shekhar Jamuar (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),
Roser Urreizti (Barcelona, 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 Konstantinos Varvagiannis (Athens, Greece),
Lex Dingemans (Nijmegen, Netherlands),
Lisenka Vissers (Nijmegen, Netherlands),
Bert de Vries (Nijmegen, Netherlands)
WDR26 Matthew Deardorff (Los Angeles, United States),
Cara Skraban (Philadelphia, United States)
WDR35 Joanna Walczak-Sztulpa (Poznan, Poland)
WDR45 Allison Gregory (Portland, United States),
Susan Hayflick (Portland, 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 Giuseppe Testa (Milan, Italy),
David Koolen (Nijmegen, Netherlands),
Michele Gabriele (Milan, Italy),
Lex Dingemans (Nijmegen, Netherlands),
Bert de Vries (Nijmegen, Netherlands)
ZDHHC9 Kate Baker (Cambridge, United Kingdom),
Anna Kolesnik-Taylor (Cambridge, United Kingdom)
ZFHX4 Bert Callewaert (Ghent, Belgium),
Sixto García-Miñaúr (Madrid, Spain),
Sarah Vergult (Ghent, Belgium),
Fernando Santos-Simarro (Madrid, Spain),
María Palomares Bralo (Madrid, Spain)
ZIC1 Steve Twigg (Oxford, United Kingdom),
Andrew Wilkie (Oxford, United Kingdom),
Debbie Shears (Oxford, United Kingdom)
ZMYND11 Amelle Shillington (Cincinnati, United States),
Jason Tchieu (Cincinnati, United States)
ZNF148 Servi JC Stevens (Maastricht, Netherlands),
Abdallah F Elias (Montana, United States)
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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