Name Moderators
ABAT Phillip Pearl (Boston, United States),
Michael Gibson (Spokane, United States),
Melissa DiBacco (Boston, United States)
ABCA2 Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
ACER3 Cungui Mao (New York, United States)
ACTL6A Mari Tokita (San Diego, United States),
Ronit Marom (Houston, United States)
ACTL6B Philippe Campeau (Montréal, Canada)
ACTL6B dominant Philippe Campeau (Montréal, Canada)
ACTL6B recessive Carl Ernst (Montreal, Canada),
Philippe Campeau (Montréal, 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)
ADARB1 Tiong Yang Tan (Melbourne, Australia),
Calder Hamill (Clayton, Australia)
ADAT3 Shital Tester (Ahmedabad, India),
Fadie D. Altuame (Boston, United States),
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),
Bert de Vries (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands)
AGK Sofia Barbosa-Gouveia (Santiago de Compostela, Spain),
Álvaro Hermida Ameijeiras (Santiago de Compostela, Spain)
AGMO Katrin Watschinger (Innsbruck, Austria),
Wendy Chung (New York, United States)
AHDC1 Shital Tester (Ahmedabad, India),
Margje Sinnema (Maastricht, Netherlands),
Sander Stegmann (Maastricht, Netherlands),
Vasudevan Pradeep (Leicester, United Kingdom)
AIMP2 Anju Shukla (Manipal, India),
Kiranam Chatti (Hyderabad, India),
Neerja Gupta (New Delhi, India)
AKT3 Bill Dobyns (Seattle, United States),
Ghayda Mirzaa (Seattle, United States)
ALKBH8 Fadie D. Altuame (Boston, United States),
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)
ANKLE2 Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
ANKRD11 Charlotte Ockeloen (Nijmegen, Netherlands),
Rolph Pfundt (Nijmegen, Netherlands),
Karen Low (Bristol, United Kingdom),
Raghu Prajapati (AHMEDABAD, India),
Gholson Lyon (Staten Island, New York, United States),
Evi Andriessen (Nijmegen, Netherlands)
ANKRD17 Maya Chopra (Boston, United States),
Chris Gordon (Paris, France)
ANO10 Ioannis Livanos (Nicosia, Cyprus),
Christina Votsi (Nicosia, Cyprus),
Kryproula Christodoulou (Nicosia, Cyprus)
AP1B1 Mohnish Suri (Nottingham, United Kingdom),
Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
AP3B2 Hormos Dafsari (Cologne, Germany),
Maxi Wiese (Cologne, Germany)
AP3D1 Hormos Dafsari (Cologne, Germany),
Maxi Wiese (Cologne, Germany)
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),
Bert de Vries (Nijmegen, Netherlands),
Lex Dingemans (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 (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
ARL3 John A Sayer (Newcastle Upon Tyne, United Kingdom),
Laura J Powell (Newcastle Upon Tyne, United Kingdom)
ARL6 Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
ARMC5 Rachel Wurth (Maryland, United States),
Fady Hannah-Shmouni (Maryland, United States),
Fabio R. Faucz (Maryland, United States),
Constantine A. Stratakis (Maryland, United States)
ARMC9 Ashwin Dalal (Hyderabad, India),
Shubha R Phadke (Lucknow, India),
Anjana Kar (Hyderabad, India)
ARV1 Farhad Abbasi (Montreal, Canada),
Philippe Campeau (Montréal, Canada)
ARX Bill Dobyns (Seattle, United States)
ASCC1 Laura Bernardini (Rome, Italy),
Antonio Pizzuti (Rome, Italy),
Maria Grazia Giuffrida (Rome, Italy),
Gioia Mastromoro (Rome, Italy)
ASNA1 Judith Verhagen (Rotterdam, Netherlands),
Ingrid M.B.H. van de Laar (Rotterdam, Netherlands)
ASPH Nisha Patel (Riyadh, Saudi Arabia),
Fadie D. Altuame (Boston, United States),
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),
Irene Valenzuela (Barcelona, Spain)
ATN1 Emma Palmer (Sydney, Australia),
Stefan Arold (Thuwal, Saudi Arabia),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
ATOH1 Karen B. Avraham (Tel Aviv, Israel),
Zippora Brownstein (Tel Aviv, Israel)
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)
ATP6V0C Coralie Michaud (Montreal, Canada),
Philippe Campeau (Montréal, Canada)
ATP6V1B2 Yongyi Yuan (Beijing, China),
Pu Dai (Beijing, China),
Xi Lin (Atlanta, United States)
ATP8A2 Joana Damásio (Porto, Portugal),
João Moura (Porto, Portugal),
Mariana Santos (Porto, Portugal)
ATXN2L Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
AUTS2 Gea Beunders (Amsterdam, Netherlands),
Erik Sistermans (Amsterdam, Netherlands)
B4GALT7 Marzia Pollazzon (Reggio Emilia, Italy),
Stefano Giuseppe Caraffi (Reggio Emilia, Italy),
Livia Garavelli (Reggio Emilia, Italy),
Andre Superti-Furga (Lausanne, Switzerland)
BBS1 Floriana Secondulfo (Naples, Italy),
Miriam Zacchia (Naples, Italy)
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 Claudia Gonzaga-Jauregui (Tarrytown, United States),
Tiong Yang Tan (Melbourne, Australia)
BPTF Pawel Stankiewicz (Houston, United States),
Yaping Yang (Houston, United States)
BRAT1 Siddharth Srivastava (Boston, United States),
Sakkubai Naidu (Baltimore, United States)
BRPF1 Farhad Abbasi (Montreal, Canada),
Philippe Campeau (Montréal, Canada)
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 (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
C18orf32 Smrithi Salian (Montreal, Canada),
Philippe Campeau (Montréal, Canada)
C2orf69 Miriam Elbracht (Aachen, Germany),
Florian Kraft (Aachen, Germany)
CA8 Chris Richmond (Brisbane, Australia)
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)
CAMLG Daisy Rymen (Leuven, Belgium),
Matthew Wilson (Leuven, Belgium)
CC2D1A Elif Funda Sener (Kayseri, Turkey),
Minoo Rassoulzadegan (Nice, France)
CC2D2A Muhammad Ismail Khan (Khyber Pakhtunkhwa, Pakistan),
Musharraf Jelani (Khyber Pakhtunkhwa, Pakistan)
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)
CELF4 Rita Barone (Catania, Italy)
CENPF Isabel Filges (Basel, Switzerland)
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)
CERT1 Hiroaki Murakami (Gifu, Japan),
Kenji Kurosawa (Kanagawa, Japan),
Kentaro Hanada (Tokyo, Japan),
Vincenzo Alessandro Gennarino (New York, United States)
CHD2 Evan Eichler (Seattle, United States)
CHD3 Erik van Heesbeen (Montreal, Canada),
Philippe Campeau (Montréal, Canada)
CHD4 Karin Weiss (Haifa, Israel)
CHD5 Christel Depienne (Essen, Germany),
Cyril Mignot (Paris, France, Metropolitan),
Ilaria Parenti (Essen, Germany)
CHD8 Raphael Bernier (Seattle, United States),
Evan Eichler (Seattle, United States),
Kim Truijen (Nijmegen, Netherlands),
Bert de Vries (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands)
CHKB Ichizo Nishino (Tokyo, Japan),
Sophelia Hoi Shan Chan (Hong Kong SAR, China),
Brian Hon Yin Chung (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),
Kim Truijen (Nijmegen, Netherlands)
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)
CNOT2 Jean-Marc Good (Lausanne, Switzerland)
CNTNAP1 Andre Megarbane (Beirut, Lebanon)
CNTNAP2 Gianluca D'Onofrio (Genoa, Italy),
Andrea Accogli (Montreal, Canada)
COG4 Carlos R. Ferreira (Washington, DC, United States)
COG6 Miriam Elbracht (Aachen, Germany),
Florian Kraft (Aachen, Germany),
Licia Lugli (Modena, Italy),
Alberto Berardi (Modena, Italy)
COG7 Dulce Quelhas (Porto, Portugal),
Jaak Jaeken (Leuven, Belgium)
COL27A1 Claudia Gonzaga-Jauregui (Tarrytown, United States)
COPB1 William Macken (Southampton, United Kingdom),
Diana Baralle (Southhampton, United Kingdom)
COQ2 Catarina M. Quinzii (New York, United States),
Eva Trevisson (Padova, Italy)
COQ9 Halil Akar (Ankara, Turkey),
Asburce Olgac (Ankara, Turkey)
COX7B Brunella Franco (Naples, Italy),
Alessia Indrieri (Naples, Italy)
CPE Georgia Vasileiou (Erlangen, Germany),
Elisabeth Bosch (Erlangen, Germany)
CRADD Nataliya Di Donato (Dresden, Germany),
Bill Dobyns (Seattle, United States)
CSNK1G1 Elizabeth Bhoj (Philadelphia, United States),
Nina B. Gold (Boston, United States)
CTNNB1 Brian Hon Yin Chung (Hong Kong, Hong Kong),
Mandy Tsang (Hong Kong, Hong Kong),
Stephanie Ho (Hong Kong, China),
Ho-ming Luk (Hong Kong, China),
Ivan Fai-man Lo (Hong Kong, China)
CTNND1 Jamal Ghoumid (Lille, France),
Sylvie Manouvrier (Lille, France)
CTU2 Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
CUL4B Emanuele Bartolini (Pisa, Italy)
CWC27 Rui Chen (Houston, United States),
Ruifang Sui (Peking, China)
CYFIP2 Anais Begemann (Schlieren, Switzerland),
Anita Rauch (Schlieren-Zurich, Switzerland)
DCAF17 Raghu Prajapati (AHMEDABAD, India),
Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
DCC Ashley Pamela Lesle Marsh (Melbourne, Australia),
Saumya Shekhar Jamuar (Singapore)
DDB1 Sue White (Melbourne, Australia)
DDX3X Lex Dingemans (Nijmegen, Netherlands)
DDX59 Hanan E Shamseldin (Riyadh, Saudi Arabia),
Raghu Prajapati (AHMEDABAD, India),
Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
DEAF1 Lisenka Vissers (Nijmegen, Netherlands),
Philip Jensik (Carbondale, United States),
Maria Nabais Sá (Nijmegen, Netherlands),
Anneke Vulto-van Silfhout (Nijmegen, Netherlands),
Bert de Vries (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands)
DEAF1 autosomal dominant Lisenka Vissers (Nijmegen, Netherlands),
Philip Jensik (Carbondale, United States),
Maria Nabais Sá (Nijmegen, Netherlands),
Anneke Vulto-van Silfhout (Nijmegen, Netherlands),
Bert de Vries (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands)
DEAF1 autosomal recessive Lisenka Vissers (Nijmegen, Netherlands),
Philip Jensik (Carbondale, United States),
Maria Nabais Sá (Nijmegen, Netherlands),
Anneke Vulto-van Silfhout (Nijmegen, Netherlands),
Bert de Vries (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands)
DEGS1 Agusti Rodriguez-Palmero (Barcelona, Spain),
Aurora Pujol (Barcelona, Spain)
Deletion 22q11 Lex Dingemans (Nijmegen, Netherlands)
DENND5A Emily Banks (Montreal, Canada),
Peter McPherson (Montreal, Canada)
DHX30 Davor Lessel (Hamburg, Germany)
DIS3L2 Eamonn R Maher (Cambridge, United Kingdom)
DLD Attila Ambrus (Budapest, Hungary),
László Tretter (Budapest, Hungary),
Eszter Szabó (Budapest, Hungary)
DNAJC19 Steven Greenway (Calgary, Canada),
Aneal Khan (Calgary, Canada)
DNMT3A Kate Tatton-Brown (London, United Kingdom)
DNMT3A gain of function Lex Dingemans (Nijmegen, Netherlands)
DOCK6 Ranad Shaheen (Riyadh, Saudi Arabia),
Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
DOCK7 Dilşad Türkdoğan (Istanbul, Turkey)
DPH1 Ho-ming Luk (Hong Kong, China),
Ivan Fai-man Lo (Hong Kong, China),
Shirley Sze-Wing Cheng (Hong Kong, China)
DPM2 Eva Morava-Kozicz (Rochester),
Silvia Radenkovic (Rochester, United States)
DVL1 A Haseena Sait (Lucknow, India),
Shubha R Phadke (Lucknow, India)
DYRK1A Raghu Prajapati (AHMEDABAD, India),
Bregje Bon (Nijmegen, Netherlands),
Evan Eichler (Seattle, United States)
EARS2 Sofia Barbosa-Gouveia (Santiago de Compostela, Spain),
Álvaro Hermida Ameijeiras (Santiago de Compostela, Spain)
EBF3 Hsiao-Tuan Chao (Houston, United States),
Michael F. Wangler (Houston, United States)
EFNB1 Jorge Corona Rivera (Guadalajara, Mexico),
Christian Peña-Padilla (Guadalajara, Mexico),
Rocío Cortés-Pastranaa (Guadalajara, Mexico)
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 (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
ELOVL5 Alfredo Brusco (Torino, Italy),
Barbara Borroni (Brescia, Italy)
EMC10 Muhammad Umair (Riyadh, Saudi Arabia),
Ahmed Alfares (Riyadh, Saudi Arabia),
Majid Alfadhel (Riyadh, Saudi Arabia)
EML1 Maarten Lequin (Utrecht, Netherlands),
Renske Oegema (Utrecht, Netherlands)
ENPP1 Carlos R. Ferreira (Washington, DC, United States)
EOGT Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
ERAL1 Leigh A.M. Demain (Manchester, United Kingdom),
William G. Newman (Manchester, United Kingdom)
ESAM Edoardo Errichiello (Pavia, Italy),
Mauro Lecca (Pavia, Italy)
ETHE1 Valeria Tiranti (Milan, Italy),
Ivano Di Meo (Milan, Italy),
Costanza Lamperti (Milan, Italy)
EXOC6B Katta Mohan Girisha (Udupi, India),
Gandham Bhavani (Manipal, India),
Swati Singh (Manipal)
EZH2 Kate Tatton-Brown (London, United Kingdom)
FAM111B Sandra Mercier (Nantes, France),
Sébastien Küry (Nantes, France)
FAM149B1 Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
FBXL4 Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
FBXO11 Sandra Jansen (Nijmegen, Netherlands),
Lisenka Vissers (Nijmegen, Netherlands),
Bert de Vries (Nijmegen, Netherlands)
FBXW7 Tiong Yang Tan (Melbourne, Australia),
Calder Hamill (Clayton, Australia)
FGF14 Pablo Iruzubieta (San Sebastian, Spain),
David Pellerin (Montreal, Canada),
Matt Danzi (Miami, United States),
Stephan Zuchner (Miami, United States),
Bernard Brais (Montreal, Canada)
FIG4 Éliane Beauregard-Lacroix (Montreal, Canada),
Coralie Michaud (Montreal, Canada),
Philippe Campeau (Montréal, Canada)
FLCN Elżbieta Radzikowska (Poland),
Aleksandra Jezela-Stanek (Warsaw, Poland)
FN1 Jade England (Montreal, Canada),
Coralie Michaud (Montreal, Canada),
Philippe Campeau (Montréal, Canada)
FN1 GFND2 Jade England (Montreal, Canada),
Coralie Michaud (Montreal, Canada),
Philippe Campeau (Montréal, Canada)
FN1-SMDCF Jade England (Montreal, Canada),
Coralie Michaud (Montreal, Canada),
Philippe Campeau (Montréal, Canada)
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)
FOXRED1 Sofia Barbosa-Gouveia (Santiago de Compostela, Spain),
Álvaro Hermida Ameijeiras (Santiago de Compostela, Spain)
FRMPD4 Philippe Campeau (Montréal, Canada),
Meagan Collins (Montreal, Canada)
GABBR2 Yuri Zarate (Little Rock (AR), United States),
Debopam Samanta (Little Rock, United States)
GATA3 Amin J. Barakat (Washington, DC, United States),
Sajel Lala Kana (Miami, United States)
GINS3 Coralie Michaud (Montreal, Canada),
Philippe Campeau (Montréal, Canada)
GLI2 Christèle Dubourg (Rennes, France),
Sylvie Odent (Rennes, France),
Alinoë Lavillaureix (Rennes, France)
GLRA2 Ronit Marom (Houston, United States),
Michael F. Wangler (Houston, United States)
GM2A Jayesh Sheth (Ahmedabad, India),
Aadhira Nair (Ahmedabad, India),
Sheela Nampoothiri (Kochin, India),
Chaitnya Datar (Pune, India)
GMNN Ernie Bongers (Nijmegen, Netherlands)
GMPPA Christian A. Hübner (Jena, Germany)
GNAI1 Petr Kuglik (Brno, Czech Republic),
Marketa Wayhelova (Prague, Czech Republic)
GNB1 Kwame Anyane-Yeboa (New York, United States),
Anya Revah-Politi (New York, United States)
GPAA1 Coralie Michaud (Montreal, Canada),
Philippe Campeau (Montréal, Canada)
GPT2 Eric M. Morrow (Providence, United States),
Brian C. Kavanaugh (Providence, United States)
GRIA1/GRIA2/GRIA3/GRIA4 Allan Bayat (Dianalund, Denmark)
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 (Boston, United States),
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 Shagun Aggarwal (Hyderabad, India),
Aneek Das Bhowmik (Hyderabad, India),
Ashwin Dalal (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)
HNMT Willem Verhoeven (Rotterdam, Netherlands),
Jos Egger (Nijmegen, Netherlands)
HNRNPK Petra Zwijnenburg (Amsterdam, Netherlands)
HOXA1 SJ Patil (Bengaluru, India),
Prince Jacob (Mysuru, India)
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)
IREB2 David Amor (Melbourne, Australia)
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)
JARID2 Coralie Michaud (Montreal, Canada),
Philippe Campeau (Montréal, Canada)
KANSL1 Evan Eichler (Seattle, United States),
David Koolen (Nijmegen, Netherlands),
Bert de Vries (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands)
KAT5 Coralie Michaud (Montreal, Canada),
Philippe Campeau (Montréal, Canada)
KAT6B Gabrielle Lemire (Ottowa, Canada),
Philippe Campeau (Montréal, Canada)
KAT8 Coralie Michaud (Montreal, Canada),
Philippe Campeau (Montréal, Canada)
KCNA1 Agusti Rodriguez-Palmero (Barcelona, 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)
KCNB1 Rima Nabbout (Paris, France)
KCNC2 Yvonne Weber (Aachen, Germany),
Stefan Wolking (Aachen, Germany)
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)
KDM5A
KIAA1109 Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
KIF16B Muhammad Umair (Riyadh, Saudi Arabia),
Ahmed Alfares (Riyadh, Saudi Arabia),
Majid Alfadhel (Riyadh, Saudi Arabia)
KIF4A Isabel Filges (Basel, Switzerland)
KIF5A Mohammed Faruq (New Delhi, India)
KLHL24 Cristina Has (Freiburg, Germany)
KMT2B Kathleen Gorman (London, United Kingdom),
Manju Kurian (London, United Kingdom)
KMT2E Anne O'Donnell Luria (Boston, United States),
Emily Groopman (Washington DC, United States),
Lynn Pais (Boston, United States)
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)
LAMP2 Matthew Taylor (Aurora, United States)
LARP7 Fadie D. Altuame (Boston, United States),
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)
LINS1 Jayesh Sheth (Ahmedabad, India),
Aadhira Nair (Ahmedabad, India),
Harsh Sheth (Ahmedabad, India),
Frenny Sheth (Ahmedabad)
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 (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
LSS Thomas Besnard (Nantes, France),
Bertrand Isidor (Nantes, France)
LZTR1 Miriam Smith (Manchester, United Kingdom),
Gareth Evans (Manchester, United Kingdom)
MAGEL2 Michael Fountain (Houston, United States),
Michael Fountain (Houston, United States),
Megan Rech (Houston, United States),
Christian Schaaf (Houston, United States)
MAN1B1 Halil Akar (Ankara, Turkey),
Asburce Olgac (Ankara, Turkey),
Sevil Dorum (Bursa, Turkey)
MBTPS2 Alanna Strong (Philadelphia, United States),
Hakon Hakonarson (Philadelphia, United States)
MECP2 duplication Hilde Van Esch (Leuven, Belgium)
MED12 Michael Lyons (North Charleston, United States),
Mike Friez (Greenwood, United States)
MED13 Flavio Faletra (Udine, Italy),
Catia Mio (Udine, Italy)
MED13L Reza Asadollahi (London, United Kingdom),
Anita Rauch (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 (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
METTL23 Mo Almannai (Riyadh, Saudi Arabia)
MFF Hanan E Shamseldin (Riyadh, Saudi Arabia),
Fadie D. Altuame (Boston, United States),
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 (Boston, United States),
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 (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
MYOD1 Coralie Michaud (Montreal, Canada),
Philippe Campeau (Montréal, Canada)
MYT1L Björn Menten (Gent, Belgium),
Alisdair McNeill (Sheffield, United Kingdom),
Raghu Prajapati (AHMEDABAD, India),
David Koolen (Nijmegen, Netherlands)
NAA10 Gholson Lyon (Staten Island, New York, United States)
NAA15 Gholson Lyon (Staten Island, 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 (Montréal, 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)
NDUFB11 Brunella Franco (Naples, Italy),
Alessia Indrieri (Naples, Italy)
NDUFS6 Cécile Rouzier (Nice, France),
Annabelle Chaussenot (Nice, France)
NECAP1 Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
NEPRO Katta Mohan Girisha (Udupi, India),
Dhanya Narayan (Manipal, India)
NEUROG1 Jayesh Sheth (Ahmedabad, India),
Aadhira Nair (Ahmedabad, India),
Harsh Sheth (Ahmedabad, India),
Frenny Sheth (Ahmedabad),
Jhanvi Shah (Ahmedabad, India),
Ketan Patel (Ahmedabad, India),
Deepika Jain (Ahmedabad, India)
NF2 Miriam Smith (Manchester, United Kingdom),
Gareth Evans (Manchester, United Kingdom)
NFASC Stephanie Efthymiou (London, United Kingdom),
Henry Houlden (London, United Kingdom)
NFIA Himanshu Goel (Newcastle, Australia)
NFIB Himanshu Goel (Newcastle, Australia)
NFIX A Haseena Sait (Lucknow, India),
Shubha R Phadke (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)
NPR2 Mohammed Faruq (New Delhi, India)
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)
NUBPL Peggy S. Eis (New York, United States),
Eli Hatchwell (Oxfordshire, United Kingdom),
Virginia Kimonis (Irvine, CA, United States),
Birgitt Schuele (Stanford, CA, United States)
ODC1 André Bachmann (Grand Rapids, United States),
Caleb Bupp (Grand Rapids, United States)
OFD1 Brunella Franco (Naples, Italy)
OTUD6B
OTX2 Julie Plaisancie (Toulouse, France),
Nicolas Chassaing (Toulouse, France)
OXR1 Coralie Michaud (Montreal, Canada),
Philippe Campeau (Montréal, Canada)
P4HTM Elisa Rahikkala (Oulu, Finland),
Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
PACS1 Han Brunner (Nijmegen, Netherlands),
Janneke Schuurs-Hoeijmakers (Nijmegen, Netherlands)
PANK2 Allison Gregory (Portland, United States),
Susan Hayflick (Portland, United States),
Alison Freed (Portland, United States)
PAX7 Coralie Michaud (Montreal, Canada),
Philippe Campeau (Montréal, Canada)
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 Sarah Ossler (Middlefield, United States),
Heng Wang (Middlefield, United States),
Baozhong Xin (Middlefield, United States)
PERP recessive Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
PGAP1 Peter Krawitz (Bonn, Germany),
Allan Bayat (Dianalund, Denmark),
Philippe Campeau (Montréal, Canada),
Yoshiko Murakami (Osaka, Japan),
Taroh Kinoshita (Osaka, Japan)
PGM1 Eva Morava-Kozicz (Rochester),
Silvia Radenkovic (Rochester, United States)
PHF5A Bert de Vries (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands),
Kerstin Kutsche (Hamburg, Germany),
Frederike Harms (Hamburg, Germany)
PHGDH Ranad Shaheen (Riyadh, Saudi Arabia),
Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
PHIP Shahid ajmeri (AHMEDABAD, India),
Alexander Hoischen (Nijmegen, Netherlands),
Sandra Jansen (Nijmegen, Netherlands),
Bert de Vries (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands)
PI4KA Agusti Rodriguez-Palmero (Barcelona, Spain),
Aurora Pujol (Barcelona, Spain)
PIEZO2 Brunhilde Wirth (Cologne, Germany),
Raoul Heller (Auckland, New Zealand),
Mert Karakaya (Cologne, Germany),
Andrea Delle Vedove (Cologne, Germany)
PIGA Peter Krawitz (Bonn, Germany),
Allan Bayat (Dianalund, Denmark),
Philippe Campeau (Montréal, Canada),
Yoshiko Murakami (Osaka, Japan),
Taroh Kinoshita (Osaka, Japan)
PIGB Coralie Michaud (Montreal, Canada),
Philippe Campeau (Montréal, Canada),
Yoshiko Murakami (Osaka, Japan)
PIGC Coralie Michaud (Montreal, Canada),
Philippe Campeau (Montréal, Canada),
Yoshiko Murakami (Osaka, Japan)
PIGF Coralie Michaud (Montreal, Canada),
Philippe Campeau (Montréal, Canada),
Yoshiko Murakami (Osaka, Japan)
PIGG Peter Krawitz (Bonn, Germany),
Allan Bayat (Dianalund, Denmark),
Philippe Campeau (Montréal, Canada),
Yoshiko Murakami (Osaka, Japan),
Taroh Kinoshita (Osaka, Japan)
PIGH Coralie Michaud (Montreal, Canada),
Philippe Campeau (Montréal, Canada)
PIGK Coralie Michaud (Montreal, Canada),
Philippe Campeau (Montréal, Canada),
Yoshiko Murakami (Osaka, Japan)
PIGL Peter Krawitz (Bonn, Germany),
Allan Bayat (Dianalund, Denmark),
Philippe Campeau (Montréal, Canada),
Yoshiko Murakami (Osaka, Japan),
Taroh Kinoshita (Osaka, Japan)
PIGM Peter Krawitz (Bonn, Germany),
Allan Bayat (Dianalund, Denmark),
Philippe Campeau (Montréal, Canada),
Yoshiko Murakami (Osaka, Japan),
Taroh Kinoshita (Osaka, Japan)
PIGN Peter Krawitz (Bonn, Germany),
Allan Bayat (Dianalund, Denmark),
Philippe Campeau (Montréal, Canada),
Yoshiko Murakami (Osaka, Japan),
Taroh Kinoshita (Osaka, Japan)
PIGP Coralie Michaud (Montreal, Canada),
Philippe Campeau (Montréal, Canada),
Yoshiko Murakami (Osaka, Japan)
PIGQ Peter Krawitz (Bonn, Germany),
Allan Bayat (Dianalund, Denmark),
Philippe Campeau (Montréal, Canada),
Yoshiko Murakami (Osaka, Japan),
Taroh Kinoshita (Osaka, Japan)
PIGS Coralie Michaud (Montreal, Canada),
Philippe Campeau (Montréal, Canada),
Yoshiko Murakami (Osaka, Japan)
PIGT Farhad Abbasi (Montreal, Canada),
Philippe Campeau (Montréal, Canada)
PIGV Aleksandra Jezela-Stanek (Warsaw, Poland),
Philippe Campeau (Montréal, Canada)
PIGW Peter Krawitz (Bonn, Germany),
Allan Bayat (Dianalund, Denmark),
Philippe Campeau (Montréal, Canada),
Yoshiko Murakami (Osaka, Japan),
Taroh Kinoshita (Osaka, Japan)
PIGY Peter Krawitz (Bonn, Germany),
Allan Bayat (Dianalund, Denmark),
Philippe Campeau (Montréal, Canada),
Yoshiko Murakami (Osaka, Japan),
Taroh Kinoshita (Osaka, Japan)
PIK3CA Bill Dobyns (Seattle, United States),
Ghayda Mirzaa (Seattle, United States)
PIK3R2 Bill Dobyns (Seattle, United States),
Ghayda Mirzaa (Seattle, United States)
PLA2G6 Allison Gregory (Portland, United States),
Susan Hayflick (Portland, United States),
Alison Freed (Portland, United States)
PLOD3 Lisa Ewans (Sydney, Australia),
Tony Roscioli (Kensington, Australia),
David Sillence (Sydney, Australia),
Frederico Forneris (Pavia, Italy)
POC1A Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
POGZ Marjolein Willemsen (Nijmegen, Netherlands),
Evan Eichler (Seattle, United States)
POLR3GL Éliane Beauregard-Lacroix (Montreal, Canada),
Philippe Campeau (Montréal, Canada)
PPM1D Cynthia Curry (Fresno, United States),
Lennart Slagter (Nijmegen, Netherlands),
Sandra Jansen (Nijmegen, Netherlands),
Lisenka Vissers (Nijmegen, Netherlands),
Bert de Vries (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands)
PPP1CB Regina Zambrano (New Orleans, United States),
Michael Marble (Albuquerque, United States)
PPP2CA Lennart Slagter (Nijmegen, Netherlands),
Sandra Jansen (Nijmegen, Netherlands),
Lisenka Vissers (Nijmegen, Netherlands)
PPP3CA John Pappas (New York, United States),
Saadet Mercimek-Andrews (Edmonton, Canada),
Weimin Bi (Houston, United States)
PQBP1 Hitoshi Okazawa (Tokyo, Japan)
PRDM12 Geoffey Woods (Cambridge, United Kingdom)
PRDM16 Sabine Klaassen (Berlin, Germany),
Jirko Kühnisch (Berlin, Germany)
PRICKLE1 Mario Mastrangelo (Rome, Italy),
Vincenzo Leuzzi (Rome, Italy),
Dario Esposito (Rome, Italy)
PRKAR1A Rachel Wurth (Maryland, United States),
Fady Hannah-Shmouni (Maryland, United States),
Fabio R. Faucz (Maryland, United States),
Constantine A. Stratakis (Maryland, United States)
PRKAR1B Christian Schaaf (Houston, United States),
Pilar Caro (Heidelberg, Germany)
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)
PSMC3 Sébastien Küry (Nantes, France),
Stéphane Bézieau (Nantes, France),
Frédéric Ebstein (Nantes, France),
Elke Krüger (Greifswald, Germany)
PSMD12 Pawel Stankiewicz (Houston, United States),
Bertrand Isidor (Nantes, France),
Sébastien Küry (Nantes, France)
PTCHD1 John Vincent (Toronto, Canada),
Ayeshah Chaudhry (Toronto, Canada)
PTPN23 Jannette Mailo (Alberta, Canada),
Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
PUF60 Hormos Dafsari (Cologne, Germany)
PUM1 Emma Palmer (Sydney, Australia),
Jimmy Lloyd Holder (Houston, United States),
Vincenzo Alessandro Gennarino (New York, United States)
PURA Dierk Niessing (Munich/Ulm, Germany),
Margot Reijnders (Maastricht, Netherlands),
Jennifer Gordon (Philadelphia, United States),
Diana Baralle (Southhampton, United Kingdom)
PUS3 Ranad Shaheen (Riyadh, Saudi Arabia),
Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
QRICH1 Silke Redler (Düsseldorf, Germany)
RAC3 Valentin Ruault (Montpellier, France),
Tiong Yang Tan (Melbourne, Australia)
RAP1GDS1 Muhammad Umair (Riyadh, Saudi Arabia),
Ahmed Alfares (Riyadh, Saudi Arabia),
Majid Alfadhel (Riyadh, Saudi Arabia)
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)
RECQL1 Grant Stewart (Birmingham, United Kingdom)
RHOBTB2 Mitsuhiro Kato (Tokyo, Japan),
Hirotomo Saitsu (Hamamatsu, Japan)
RNASET2 Jutta Gärtner (Göttingen, Germany),
Marco Henneke (Göttingen, Germany),
Matthias Kettwig (Göttingen, Germany)
RNF113A Anne Slavotinek (San Francisco, United States)
RNU4ATAC Coralie Michaud (Montreal, Canada),
Philippe Campeau (Montréal, Canada)
ROR2 A Haseena Sait (Lucknow, India),
Shubha R Phadke (Lucknow, India)
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 (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
RTTN Hanan E Shamseldin (Riyadh, Saudi Arabia),
Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
RUSC2 Ali Hassan Alwadei (Riyadh, Saudi Arabia)
SACS Benoit Gentil (Montreal, Canada)
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)
SERPINA1 Aleksandra Jezela-Stanek (Warsaw, Poland)
SET Servi JC Stevens (Maastricht, 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 (Barcelona, 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)
SLC25A22 Florence Molinari (Marseille, France)
SLC45A1 Myriam Srour (Montreal, Canada),
Sarah Alsubhi (Montreal, Canada)
SLC6A9 Irene Mademont-Soler (Girona, Spain),
Dolors Casellas-Vidal (Girona, Spain)
SLF2 Grant Stewart (Birmingham, United Kingdom)
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 (Montréal, Canada)
SMARCD1 Coralie Michaud (Montreal, Canada),
Philippe Campeau (Montréal, Canada)
SMARCE1 Samantha A. Schrier Vergano (Norfolk, United States)
SMC5 Grant Stewart (Birmingham, United Kingdom)
SMG8 Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
SMG9 Ranad Shaheen (Riyadh, Saudi Arabia),
Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
SMS Angela Peron (Salt Lake City, United States),
Charles E. Schwartz (Greenwood, United States)
SNX14 A Haseena Sait (Lucknow, India),
Shubha R Phadke (Lucknow, India)
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 Maria Nabais Sá (Nijmegen, Netherlands),
Bert de Vries (Nijmegen, Netherlands)
SPOP GoF Maria Nabais Sá (Nijmegen, Netherlands),
Bert de Vries (Nijmegen, Netherlands)
SPOP LoF Lisenka Vissers (Nijmegen, Netherlands),
Philip Jensik (Carbondale, United States),
Maria Nabais Sá (Nijmegen, Netherlands),
Anneke Vulto-van Silfhout (Nijmegen, Netherlands),
Bert de Vries (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands)
SPTAN1 Jun Tohyama (Niigata, Japan),
Hirotomo Saitsu (Hamamatsu, Japan)
SRCAP David Koolen (Nijmegen, Netherlands)
SRCAP FLHS Jane Hurst (London, United Kingdom),
Lara Menzies (London, United Kingdom)
SRRM2 Silvestre Cuinat (Nantes, France)
STAG2 Sérgio D.J. Pena (Belo Horizonte, Brazil)
STT3A Daisy Rymen (Leuven, Belgium),
Matthew Wilson (Leuven, Belgium)
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 (Staten Island, New York, United States)
TAF6 Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
TANC2 Alessandra Murgia (Padua, Italy),
Elisa Bettella (Padua, Italy)
TANGO2 Kuntal Sen (Washington, DC, United States),
Andrea L. Gropman (Washington, DC, United States)
TBC1D24 Sanjay Sisodiya (London, United Kingdom),
Philippe Campeau (Montréal, 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)
TDP2 Keith Caldecott (Brighton, United Kingdom)
TELO2 Claudia Ciaccio (Milan, Italy),
Stefano D'Arrigo (Milan, Italy),
Chiara Pantaleoni (Milan, Italy)
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)
THOC6 Gabrielle Lemire (Ottowa, Canada),
Valeria Capra (Genova, Italy)
TMCO1 Heng Wang (Middlefield, United States),
Baozhong Xin (Middlefield, United States),
Bea Torres-Fults (Middlefield, United States)
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 (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
TMEM94 Joshi Stephen (Maryland, United States),
Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
TMTC3 Andre Megarbane (Beirut, Lebanon)
TNIK Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
TPP2 Isis Atallah (Lausanne, Switzerland),
Andrea Superti-Furga (Lausanne, Switzerland)
TRAF7 Roser Urreizti (Barcelona, Spain)
TRIO Konstantinos Varvagiannis (Athens, Greece),
Lisenka Vissers (Nijmegen, Netherlands),
Diana Baralle (Southhampton, United Kingdom),
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 (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
TRRAP Benjamin Cogné (Nantes, France),
Coralie Michaud (Montreal, Canada),
Philippe Campeau (Montréal, Canada),
Sébastien Küry (Nantes, France)
TSEN15 Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
TUBB2A Stefanie Brock (Brussels, Belgium),
Anna Jansen (Antwerp, Belgium)
TXNL4A William G. Newman (Manchester, United Kingdom)
UBR7 Éliane Beauregard-Lacroix (Montreal, Canada),
Coralie Michaud (Montreal, Canada),
Philippe Campeau (Montréal, Canada)
UFC1 Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
UFM1 Fadie D. Altuame (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
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 (Boston, United States),
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 Sarah Ossler (Middlefield, United States),
Heng Wang (Middlefield, United States),
Baozhong Xin (Middlefield, United States)
VPS13D Coralie Michaud (Montreal, Canada),
Inge Meijer (Montreal, Canada),
Philippe Campeau (Montréal, Canada)
WAC Konstantinos Varvagiannis (Athens, Greece),
Lisenka Vissers (Nijmegen, Netherlands),
Bert de Vries (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands)
WASF1 Toshiyuki Yamamoto (Tokyo, Japan)
WDFY3 Diana Le Duc (Leipzig, Germany),
Konstantinos Zarbalis (Sacramento, United States),
Rami Jamra (Leipzig, Germany)
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 (Boston, United States),
Fowzan Alkuraya (Riyadh, Saudi Arabia)
WWOX Rami Aqeilan (Jerusalem, Israel)
YWHAG Michelle Demos (Vancouver BC, Canada),
Malavika Hebbar (Vancouver BC, Canada),
Shelin Adam (Vancouver BC, Canada)
YY1 Giuseppe Testa (Milan, Italy),
Michele Gabriele (Milan, Italy),
David Koolen (Nijmegen, Netherlands),
Bert de Vries (Nijmegen, Netherlands),
Lex Dingemans (Nijmegen, Netherlands)
ZBTB18 Sonja de Munnik (Nijmegen, Netherlands),
Vyne van der Schoot (Rotterdam, 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 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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