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