| 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 (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 |
Hannah Vuong (Melbourne, Australia), Tiong Yang Tan (Melbourne, Australia) |
| 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) |
| AGK |
Sofia Barbosa-Gouveia (Santiago de Compostela, Spain), Álvaro Hermida Ameijeiras (Santiago de Compostela, Spain) |
| 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 (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 (Staten Island, 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) |
| 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), 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) |
| 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 (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), Irene Valenzuela (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) |
| ATP6V0C |
Philippe Campeau (Montréal, Canada), Coralie Michaud (Montreal, 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 (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 |
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) |
| 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) |
| C18orf32 |
Philippe Campeau (Montréal, Canada), Smrithi Salian (Montreal, 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) |
| 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) |
| 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 GoF |
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), Lex Dingemans (Nijmegen, Netherlands), Kim Truijen (Nijmegen, Netherlands), Bert de Vries (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) |
| CNTNAP1 | Andre Megarbane (Beirut, Lebanon) |
| 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) |
| 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 |
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) |
| 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) |
| DDB1 | Sue White (Melbourne, Australia) |
| 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 |
Lex Dingemans (Nijmegen, Netherlands), 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) |
| DEAF1 autosomal dominant |
Lex Dingemans (Nijmegen, Netherlands), 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) |
| DEAF1 autosomal recessive |
Lex Dingemans (Nijmegen, Netherlands), 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) |
| 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) |
| 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) |
| 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 |
Shubha R Phadke (Lucknow, India), A Haseena Sait (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) |
| 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) |
| 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 (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) |
| FBXW7 |
Hannah Vuong (Melbourne, Australia), Tiong Yang Tan (Melbourne, Australia) |
| FIG4 |
Éliane Beauregard-Lacroix (Montreal, Canada), Philippe Campeau (Montréal, Canada), Coralie Michaud (Montreal, Canada) |
| FLCN |
Sérgio D.J. Pena (Belo Horizonte, Brazil), Aleksandra Jezela-Stanek (Warsaw, Poland), Elżbieta Radzikowska (Poland) |
| FN1 |
Philippe Campeau (Montréal, Canada), Jade England (Montreal, Canada), Coralie Michaud (Montreal, Canada) |
| FN1 GFND2 |
Philippe Campeau (Montréal, Canada), Jade England (Montreal, Canada), Coralie Michaud (Montreal, Canada) |
| FN1-SMDCF |
Philippe Campeau (Montréal, Canada), Jade England (Montreal, Canada), Coralie Michaud (Montreal, 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) |
| 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 |
Philippe Campeau (Montréal, Canada), Coralie Michaud (Montreal, Canada) |
| GLI2 |
Christèle Dubourg (Rennes, France), Sylvie Odent (Rennes, France), Alinoë Lavillaureix (Rennes, France) |
| 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) |
| GNB1 |
Kwame Anyane-Yeboa (New York, United States), Anya Revah-Politi (New York, United States) |
| GPAA1 |
Philippe Campeau (Montréal, Canada), Coralie Michaud (Montreal, 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 (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) |
| 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 |
Philippe Campeau (Montréal, Canada), Coralie Michaud (Montreal, Canada) |
| KANSL1 |
David Koolen (Nijmegen, Netherlands), Evan Eichler (Seattle, United States), Lex Dingemans (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
| KAT5 |
Philippe Campeau (Montréal, Canada), Coralie Michaud (Montreal, Canada) |
| KAT6B |
Gabrielle Lemire (Ottowa, Canada), Philippe Campeau (Montréal, Canada) |
| KAT8 |
Philippe Campeau (Montréal, Canada), Coralie Michaud (Montreal, 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) |
| 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) |
| 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 (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) |
| MED13 |
Flavio Faletra (Udine, Italy), Catia Mio (Udine, Italy) |
| MED13L |
Anita Rauch (Schlieren-Zurich, Switzerland), Reza Asadollahi (London, United Kingdom) |
| 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) |
| MYOD1 |
Philippe Campeau (Montréal, Canada), Coralie Michaud (Montreal, 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 (Riyadh, Saudi Arabia), 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) |
| NFASC |
Stephanie Efthymiou (London, United Kingdom), Henry Houlden (London, United Kingdom) |
| NFIA | Himanshu Goel (Newcastle, Australia) |
| NFIB | Himanshu Goel (Newcastle, Australia) |
| NFIX |
Shubha R Phadke (Lucknow, India), A 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) |
| 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) |
| OFD1 | Brunella Franco (Naples, Italy) |
| OXR1 |
Philippe Campeau (Montréal, 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) |
| PAX7 |
Philippe Campeau (Montréal, Canada), Coralie Michaud (Montreal, 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 |
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 |
Taroh Kinoshita (Osaka, Japan), Peter Krawitz (Bonn, Germany), Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada), Allan Bayat (Dianalund, Denmark) |
| PGM1 |
Eva Morava-Kozicz (Rochester), Silvia Radenkovic (Rochester, United States) |
| 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 (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 |
Taroh Kinoshita (Osaka, Japan), Peter Krawitz (Bonn, Germany), Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada), Allan Bayat (Dianalund, Denmark) |
| PIGB |
Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada), Coralie Michaud (Montreal, Canada) |
| PIGC |
Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada), Coralie Michaud (Montreal, Canada) |
| PIGF |
Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada), Coralie Michaud (Montreal, Canada) |
| PIGG |
Taroh Kinoshita (Osaka, Japan), Peter Krawitz (Bonn, Germany), Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada), Allan Bayat (Dianalund, Denmark) |
| PIGH |
Philippe Campeau (Montréal, Canada), Coralie Michaud (Montreal, Canada) |
| PIGK |
Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada), Coralie Michaud (Montreal, Canada) |
| PIGL |
Taroh Kinoshita (Osaka, Japan), Peter Krawitz (Bonn, Germany), Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada), Allan Bayat (Dianalund, Denmark) |
| PIGM |
Taroh Kinoshita (Osaka, Japan), Peter Krawitz (Bonn, Germany), Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada), Allan Bayat (Dianalund, Denmark) |
| PIGN |
Taroh Kinoshita (Osaka, Japan), Peter Krawitz (Bonn, Germany), Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada), Allan Bayat (Dianalund, Denmark) |
| PIGP |
Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada), Coralie Michaud (Montreal, Canada) |
| PIGQ |
Taroh Kinoshita (Osaka, Japan), Peter Krawitz (Bonn, Germany), Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada), Allan Bayat (Dianalund, Denmark) |
| PIGS |
Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada), Coralie Michaud (Montreal, Canada) |
| PIGW |
Taroh Kinoshita (Osaka, Japan), Peter Krawitz (Bonn, Germany), Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada), Allan Bayat (Dianalund, Denmark) |
| PIGY |
Taroh Kinoshita (Osaka, Japan), Peter Krawitz (Bonn, Germany), Yoshiko Murakami (Osaka, Japan), Philippe Campeau (Montréal, Canada), Allan Bayat (Dianalund, Denmark) |
| 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 (Montréal, 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) |
| PPP3CA |
John Pappas (New York, United States), Saadet Mercimek-Andrews (Edmonton, Canada), Weimin Bi (Houston, United States) |
| 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) |
| PUF60 | Hormos Dafsari (Cologne, Germany) |
| PUM1 |
Emma Palmer (Sydney, Australia), Jimmy Lloyd Holder (Houston, United States), Vincenzo Alessandro Gennarino (New York, 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 |
Valentin Ruault (Montpellier, France), Tiong Yang Tan (Melbourne, Australia) |
| 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) |
| RHOBTB2 |
Hirotomo Saitsu (Hamamatsu, Japan), Mitsuhiro Kato (Tokyo, Japan) |
| RNASET2 |
Jutta Gärtner (Göttingen, Germany), Marco Henneke (Göttingen, Germany), Matthias Kettwig (Göttingen, Germany) |
| RNF113A | Anne Slavotinek (San Francisco, United States) |
| RNU4ATAC |
Philippe Campeau (Montréal, Canada), Coralie Michaud (Montreal, Canada) |
| ROR2 |
Shubha R Phadke (Lucknow, India), A Haseena Sait (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 (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) |
| 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) |
| 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 |
Philippe Campeau (Montréal, Canada), Coralie Michaud (Montreal, Canada) |
| SMARCE1 | Samantha A. Schrier Vergano (Norfolk, 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) |
| SNX14 |
Shubha R Phadke (Lucknow, India), A Haseena Sait (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 |
Lex Dingemans (Nijmegen, Netherlands), 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) |
| SRCAP |
Jane Hurst (London, United Kingdom), Lara Menzies (London, United Kingdom) |
| 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 (Riyadh, Saudi Arabia), 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) |
| 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) |
| 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 |
Sébastien Küry (Nantes, France), Benjamin Cogné (Nantes, France), Philippe Campeau (Montréal, Canada), Coralie Michaud (Montreal, Canada) |
| 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) |
| UBR7 |
Éliane Beauregard-Lacroix (Montreal, Canada), Philippe Campeau (Montréal, Canada), Coralie Michaud (Montreal, Canada) |
| UFC1 |
Fadie D. Altuame (Riyadh, Saudi Arabia), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| UFM1 |
Fadie D. Altuame (Riyadh, Saudi Arabia), 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 (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) |
| VPS13D |
Philippe Campeau (Montréal, Canada), Coralie Michaud (Montreal, Canada), Inge Meijer (Montreal, Canada) |
| WAC |
Konstantinos Varvagiannis (Athens, Greece), Lex Dingemans (Nijmegen, Netherlands), Lisenka Vissers (Nijmegen, Netherlands), Bert de Vries (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 (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 |
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) |