| Name | Moderators |
|---|---|
| ABAT |
Phillip Pearl (Boston, United States), Michael Gibson (Spokane, United States), Melissa DiBacco (Boston, United States) |
| ABCA2 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia) |
| ACER3 | Cungui Mao (New York, United States) |
| ACTL6A |
Ronit Marom (Houston, United States), Mari Tokita (San Diego, United States) |
| ACTL6B | Philippe Campeau (Monteral, Canada) |
| ACTL6B dominant | Philippe Campeau (Monteral, Canada) |
| ACTL6B recessive |
Philippe Campeau (Monteral, Canada), Carl Ernst (Montreal, Canada) |
| ADAMTSL2 | Merlin Butler (Kansas City, United States) |
| ADAMTSL2 autosomal dominant | Merlin Butler (Kansas City, United States) |
| ADAMTSL2 autosomal recessive | Merlin Butler (Kansas City, United States) |
| ADAT3 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia), Shital Tester (Ahmedabad, India) |
| ADGRB3 |
Marco Fichera (Catania, Italy), Corrado Romano (Troina, Italy) |
| ADGRG6 | Gina Ravenscroft (Perth, Australia) |
| ADNP |
Evan Eichler (Seattle, United States), Frank Kooy (Antwerp, Belgium), Bert de Vries (Nijmegen, Netherlands), Anke Van Dijck (Antwerp, Belgium), Lex Dingemans (Nijmegen, Netherlands) |
| AHDC1 |
Margje Sinnema (Maastricht, Netherlands), Sander Stegmann (Maastricht, Netherlands), Vasudevan Pradeep (Leicester, United Kingdom), Shital Tester (Ahmedabad, India) |
| AKT3 |
Bill Dobyns (Seattle, United States), Ghayda Mirzaa (Seattle, United States) |
| 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) |
| 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), Raghu Prajapati (AHMEDABAD, India), Karen Low (Bristol, United Kingdom), Gholson Lyon (New York, United States) |
| ANKRD17 |
Chris Gordon (Paris, France), Maya Chopra (Boston, United States) |
| AP1B1 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia), Mohnish Suri (Nottingham, United Kingdom) |
| 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 |
Eline van der Sluijs (Leiden, Netherlands), Gijs Santen (Leiden, Netherlands) |
| ARID1B |
Eline van der Sluijs (Leiden, Netherlands), Gijs Santen (Leiden, Netherlands), Bert de Vries (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands) |
| ARID2 |
Eline van der Sluijs (Leiden, Netherlands), Gijs Santen (Leiden, Netherlands), Nuria Brämswig (Essen, Germany) |
| 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), Irene Valenzuela Palafoll (Barcelona, Spain) |
| ATN1 |
Emma Palmer (Sydney, Australia), Fowzan Alkuraya (Riyadh, Saudi Arabia), Stefan Arold (Thuwal, Saudi Arabia) |
| ATP1A1 | Francesco Nicita (Rome, Italy) |
| ATP1A2 |
A.M.J.M. van den Maagdenberg (Leiden, Netherlands), M.J.V. Hoffer (Leiden, Netherlands), A.V.E. Harder (Leiden, Netherlands) |
| ATP2B3 | Ginevra Zanni (Rome, Italy) |
| ATP6V1B2 |
Yongyi Yuan (Beijing, China), Pu Dai (Beijing, China), Xi Lin (Atlanta, United States) |
| ATXN2L |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia) |
| AUTS2 |
Gea Beunders (Amsterdam, Netherlands), Erik Sistermans (Amsterdam, Netherlands) |
| BCAP31 |
Laurent Villard (Marseille, France), Sandra Whalen (Paris, France) |
| BCL11A |
Cristina Dias (London, United Kingdom), Angela Peron (Salt Lake City, United States), David Viskochil (Salt Lake City, United States) |
| BGN |
Josephina Meester (Antwerp, Belgium), Bart Loeys (Antwerp, Belgium) |
| BMP2 |
Tiong Yang Tan (Melbourne, Australia), Claudia Gonzaga-Jauregui (Tarrytown, United States) |
| BPTF |
Pawel Stankiewicz (Houston, United States), Yaping Yang (Houston, United States) |
| BRAT1 |
Siddharth Srivastava (Boston, United States), Sakkubai Naidu (Baltimore, United States) |
| BRWD3 | Michael Field (Waratah, Australia) |
| BSCL2 |
Aurora Pujol (Barcelona, Spain), Adolfo Lopez de Munain (San Sebastian, Spain), Gorka Fernández-Eulate (Paris, France) |
| C12orf57 |
Raghu Prajapati (AHMEDABAD, India), Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia) |
| CACNA1A |
A.M.J.M. van den Maagdenberg (Leiden, Netherlands), M.J.V. Hoffer (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) |
| CCDC186 |
Matias Wagner (Munich, Germany), Melanie Brugger (Munich, Germany), Ingo Borggräfe (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 |
Anna Mª Cueto-González (Barcelona, Spain), María Palomares Bralo (Madrid, Spain), Fernando Santos-Simarro (Madrid, Spain), Marta Miguez (Madrid, Spain) |
| CEP78 |
Pietro Farinelli (Copenhagen, Denmark), Konstantinos Nikopoulos (Lausanne, Switzerland), Carlo Rivolta (Leicester, United Kingdom) |
| CHD2 | Evan Eichler (Seattle, United States) |
| CHD3 |
Philippe Campeau (Monteral, Canada), Erik van Heesbeen (Montreal, Canada) |
| CHD4 | Karin Weiss (Haifa, Israel) |
| CHD5 |
Cyril Mignot (Paris, France, Metropolitan), Christel Depienne (Essen, Germany), Ilaria Parenti (Essen, Germany) |
| CHD8 |
Raphael Bernier (Seattle, United States), Evan Eichler (Seattle, United States), Bert de Vries (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands), Kim Truijen |
| CHKB |
Brian Hon Yin Chung (Hong Kong, Hong Kong), Sophelia Hoi Shan Chan (Hong Kong SAR, China), Ichizo Nishino (Tokyo, Japan) |
| CHR1Q21 |
Evan Eichler (Seattle, United States), Heather Mefford (Seattle, United States) |
| CHRNG |
Daniel Natera de Benito (Barcelona, Spain), Andres Nascimento (Barcelona, Spain) |
| CHST3 |
Shubha R Phadke (Lucknow, India), Somya Srivastava (Lucknow, India) |
| CIC |
Huda Zoghbi (Houston, United States), Mark Durham (Houston, United States) |
| CLCN4 |
Vera Kalscheuer (Berlin, Germany), Emma Palmer (Sydney, Australia) |
| CLDN11 |
Sylvia Stockler (Vancouver, Canada), Korbinian Riedhammer (Munich, Germany), Simone Race (Vancouver, Canada) |
| CLN5 |
Stephanie Efthymiou (London, United Kingdom), Henry Houlden (London, United Kingdom) |
| CLP1 |
Ender Karaca (Birmingham, United States), James R. Lupski (Houston, United States) |
| CLPP |
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) |
| CSNK1G1 |
Elizabeth Bhoj (Philadelphia, United States), Nina B. Gold (Boston, United States) |
| CTNNB1 |
Brian Hon Yin Chung (Hong Kong, Hong Kong), Ivan Fai-man Lo (Hong Kong, China), Stephanie Ho (Hong Kong, China), Mandy Tsang (Hong Kong, Hong Kong), Ho-ming Luk (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), Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia) |
| DCC |
Saumya Shekhar Jamuar (Singapore), Ashley Pamela Lesle Marsh (Melbourne, Australia) |
| DDX3X | Lex Dingemans (Nijmegen, Netherlands) |
| DDX59 |
Raghu Prajapati (AHMEDABAD, India), Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia), Hanan E Shamseldin (Riyadh, Saudi Arabia) |
| DEAF1 |
Lisenka Vissers (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands), Anneke Vulto-van Silfhout (Nijmegen, Netherlands), Maria Nabais Sá (Nijmegen, Netherlands), Philip Jensik (Carbondale, United States), Lex Dingemans (Nijmegen, Netherlands) |
| DEAF1 autosomal dominant |
Lisenka Vissers (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands), Anneke Vulto-van Silfhout (Nijmegen, Netherlands), Maria Nabais Sá (Nijmegen, Netherlands), Philip Jensik (Carbondale, United States), Lex Dingemans (Nijmegen, Netherlands) |
| DEAF1 autosomal recessive |
Lisenka Vissers (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands), Anneke Vulto-van Silfhout (Nijmegen, Netherlands), Maria Nabais Sá (Nijmegen, Netherlands), Philip Jensik (Carbondale, United States), Lex Dingemans (Nijmegen, Netherlands) |
| DEGS1 |
Aurora Pujol (Barcelona, Spain), Agusti Rodriguez-Palmero (Badalona, Spain) |
| Deletion 22q11 | Lex Dingemans (Nijmegen, Netherlands) |
| DHX30 | Davor Lessel (Hamburg, Germany) |
| DNMT3A | Kate Tatton-Brown (London, United Kingdom) |
| DNMT3A gain of function | Lex Dingemans (Nijmegen, Netherlands) |
| DOCK6 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Ranad Shaheen (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia) |
| DOCK7 | Dilşad Türkdoğan (Istanbul, Turkey) |
| DYRK1A |
Bregje Bon (Nijmegen, Netherlands), Evan Eichler (Seattle, United States), Raghu Prajapati (AHMEDABAD, India) |
| 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) |
| EML1 |
Renske Oegema (Utrecht, Netherlands), Maarten Lequin (Utrecht, Netherlands) |
| 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), Lisenka Vissers (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands) |
| FN1 |
Philippe Campeau (Monteral, Canada), Coralie Michaud (Montreal, Canada), Jade England (Montreal, Canada) |
| FN1 GFND2 |
Philippe Campeau (Monteral, Canada), Coralie Michaud (Montreal, Canada), Jade England (Montreal, Canada) |
| FN1-SMDCF |
Philippe Campeau (Monteral, Canada), Coralie Michaud (Montreal, Canada), Jade England (Montreal, Canada) |
| FOXP1 |
Bert Callewaert (Ghent, Belgium), Saskia Koene (Leiden, Netherlands) |
| FOXP2 |
Angela Morgan (Melbourne, Australia), Simon Fisher (Nijmegen, Netherlands) |
| FOXP3 |
Raymond J Louie (Greenwood, United States), Queenie K-G Tan (Durham, United States) |
| GABBR2 |
Yuri Zarate (Little Rock (AR), United States), Debopam Samanta (Little Rock, United States) |
| GATA3 |
Sajel Lala Kana (Miami, United States), Amin J. Barakat (Washington, DC, United States) |
| GLI2 |
Christèle Dubourg (Rennes, France), Sylvie Odent (Rennes, France), Alinoë Lavillaureix (Rennes, France) |
| GMNN | Ernie Bongers (Nijmegen, Netherlands) |
| GMPPA | Christian A. Hübner (Jena, Germany) |
| GNB1 |
Kwame Anyane-Yeboa (New York, United States), Anya Revah-Politi (New York, United States) |
| GPAA1 |
Philippe Campeau (Monteral, Canada), Coralie Michaud (Montreal, Canada) |
| GPT2 |
Eric M. Morrow (Providence, United States), Brian C. Kavanaugh (Providence, United States) |
| GRIN1 |
Johannes Lemke (Leipzig, Germany), Ilona Krey (Leipzig, Germany) |
| GRIN2A |
Johannes Lemke (Leipzig, Germany), Ilona Krey (Leipzig, Germany) |
| GRIN2B |
Johannes Lemke (Leipzig, Germany), Ilona Krey (Leipzig, Germany) |
| GRIN2D |
Johannes Lemke (Leipzig, Germany), Ilona Krey (Leipzig, Germany) |
| GZF1 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia), Nisha Patel (Riyadh, Saudi Arabia) |
| HARS2 |
William G. Newman (Manchester, United Kingdom), Leigh A.M. Demain (Manchester, United Kingdom) |
| HCN1 |
Christel Depienne (Essen, Germany), Carla Marini (Florence, Italy) |
| 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), Dilek Colak (Riyadh, Saudi Arabia), Rawan Almass (Riyadh, Saudi Arabia), Maysoon Alsagob (Riyadh, Saudi Arabia), Zuhair AlHassnan (Riyadh, Saudi Arabia), Mazhor S. Aldosary (Riyadh, Saudi Arabia) |
| KANSL1 |
Evan Eichler (Seattle, United States), David Koolen (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands), Lex Dingemans (Nijmegen, Netherlands) |
| KAT5 |
Philippe Campeau (Monteral, Canada), Coralie Michaud (Montreal, Canada) |
| KAT6B |
Philippe Campeau (Monteral, Canada), Gabrielle Lemire (Ottowa, Canada) |
| KCNA1 |
Aurora Pujol (Barcelona, Spain), Agusti Rodriguez-Palmero (Badalona, Spain) |
| KCNA4 |
Namik Kaya (Riyadh, Saudi Arabia), Mohamed Al-Owain (Riyadh, Saudi Arabia), Dilek Colak (Riyadh, Saudi Arabia), Albandary AlBakheet (Riyadh, Saudi Arabia), Rawan Almass (Riyadh, Saudi Arabia), Maysoon Alsagob (Riyadh, Saudi Arabia) |
| KCNH1 | Michael Gabbett (Brisbane, Australia) |
| KCNK9 |
Matthew Deardorff (Los Angeles, United States), John M. Graham Jr. (Los Angeles, United States), Margot A. Cousin (Rochester, United States), Emma L. Veale (Chatham Maritime, United Kingdom) |
| KCNN2 |
Christel Depienne (Essen, Germany), Fanny Mochel (Paris, France) |
| KCNN3 |
Martin Schwarz (Prague, Czech Republic), Lukáš Ryba (Prague, Czech Republic), Markéta Havlovicová (Prague, Czech Republic) |
| KCNQ2 |
Sarah Weckhuysen (Antwerp, Belgium), Maurizio Taglialatela (Naples, Italy) |
| KCNQ3 |
Sarah Weckhuysen (Antwerp, Belgium), Maurizio Taglialatela (Naples, Italy) |
| 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) |
| LAMB1 Autosomal Dominant |
Hélène Morel (Paris, France), Dominique Herve (Paris, France) |
| 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) |
| LIFR |
Fernando Santos-Simarro (Madrid, Spain), Sofía Siccha Arancibia (Barcelona, Spain) |
| LIS1 |
Renzo Guerrini (Florence, Italy), Elena Parrini (Florence, Italy) |
| LMAN2L |
Rafiullah Rafiullah (Riyadh, Saudi Arabia), Hazrat Ali Khan (Quetta, Pakistan) |
| LMNB1 |
Hilde Van Esch (Leuven, Belgium), Rich Steet (Greenwood, United States) |
| LRIG2 | William G. Newman (Manchester, United Kingdom) |
| LRP2 |
Barbara R. Pober (Boston, United States), Mauro Longoni (Boston, United States) |
| LRPAP1 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia) |
| LSS |
Bertrand Isidor (Nantes, France), Thomas Besnard (Nantes, France) |
| MAGEL2 |
Michael Fountain (Houston, United States), Michael Fountain (Houston, United States), Christian Schaaf (Houston, United States), Megan Rech (Houston, United States) |
| MECP2 duplication | Hilde Van Esch (Leuven, Belgium) |
| MED12 |
Michael Lyons (North Charleston, United States), Mike Friez (Greenwood, United States) |
| MED13L |
Anita Rauch (Schlieren-Zurich, Switzerland), Reza Asadollahi (Schlieren-Zurich, Switzerland) |
| MEF2C |
Sofia Douzgou (Manchester, United Kingdom), Florence Riccardi (Marseille, France) |
| MEIS2 |
Maria J. Guillen Sacoto (Gaithersburg, United States), Andrea Gangfuß (Essen, Germany), Dorothea Schulte (Frankfurt, Germany) |
| 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) |
| MSL3 |
Matias Wagner (Munich, Germany), Theresa Brunet (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 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia) |
| MYT1L |
David Koolen (Nijmegen, Netherlands), Björn Menten (Gent, Belgium), Raghu Prajapati (AHMEDABAD, India), Alisdair McNeill (Sheffield, United Kingdom) |
| NAA10 | Gholson Lyon (New York, United States) |
| NAA15 | Gholson Lyon (New York, United States) |
| NACC1 |
Vandana Shashi (Durham, United States), Kelly Schoch (Durham, United States), Michael Wangler (Houston, United States) |
| NARS1 |
Stephanie Efthymiou (London, United Kingdom), Henry Houlden (London, United Kingdom) |
| NCOR2 | Philippe Campeau (Monteral, Canada) |
| NDUFA6 |
Charlotte Alston (Newcastle upon Tyne, United Kingdom), Robert McFarland (Newcastle upon Tyne, United Kingdom), Robert Taylor (Newcastle upon Tyne, United Kingdom) |
| NDUFAF8 |
Charlotte Alston (Newcastle upon Tyne, United Kingdom), Robert McFarland (Newcastle upon Tyne, United Kingdom), Robert Taylor (Newcastle upon Tyne, United Kingdom), David J. Pagliarini (St Louis, United States) |
| NDUFS6 |
Cécile Rouzier (Nice, France), Annabelle Chaussenot (Nice, France) |
| NECAP1 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia) |
| NFASC |
Stephanie Efthymiou (London, United Kingdom), Henry Houlden (London, United Kingdom) |
| NFIX |
Shubha R Phadke (Lucknow, India), Haseena Sait (Lucknow, India) |
| NGF | Geoffey Woods (Cambridge, United Kingdom) |
| NKAP |
Kosuke Izumi (Philadelphia, United States), Alyssa Ritter (Philadelphia, United States) |
| NKX6-2 |
Viorica Chelban (London, United Kingdom), Fowzan Alkuraya (Riyadh, Saudi Arabia) |
| NR2F1 |
Danielle Bosch (Nijmegen, Netherlands), Christian Schaaf (Houston, United States) |
| NR5A1 |
Martine Cools (Ghent, Belgium), Elfride De Baere (Ghent, Belgium), Dorien Baetens (Ghent, Belgium) |
| NRROS |
John Christodoulou (Melbourne, Australia), Sue White (Melbourne, Australia) |
| NSD1 |
Kate Tatton-Brown (London, United Kingdom), Raghu Prajapati (AHMEDABAD, India) |
| NSRP1 |
James R. Lupski (Houston, United States), Daniel Calame (Houston, United States) |
| NTRK1 | Geoffey Woods (Cambridge, United Kingdom) |
| OFD1 | Brunella Franco (Naples, Italy) |
| OXR1 |
Philippe Campeau (Monteral, Canada), Coralie Michaud (Montreal, Canada) |
| P4HTM |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia), Elisa Rahikkala (Oulu, Finland) |
| PACS1 |
Han Brunner (Nijmegen, Netherlands), Janneke Schuurs-Hoeijmakers (Nijmegen, Netherlands) |
| PCDH19 |
Jozef Gecz (Adelaide, Australia), Emma Palmer (Sydney, Australia), Kristy Kolc (Adelaide, Australia), Ingrid Scheffer (Melbourne, Australia), Lynette Sadleir (Wellington, New Zealand) |
| PCGF2 |
Peter Turnpenny (Exeter, United Kingdom), Andrew Fry (Cardiff, United Kingdom) |
| PEPD |
Heng Wang (Middlefield, United States), Baozhong Xin (Middlefield, United States), Sarah Ossler (Middlefield, United States) |
| PERP recessive |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia) |
| PGAP1 |
Philippe Campeau (Monteral, Canada), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Peter Krawitz (Bonn, Germany), Allan Bayat (Dianalund, Denmark) |
| PGM1 |
Silvia Radenkovic (Rochester, United States), Eva Morava-Kozicz (Rochester) |
| PHGDH |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Ranad Shaheen (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia) |
| PHIP |
Sandra Jansen (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands), Alexander Hoischen (Nijmegen, Netherlands), Shahid ajmeri (AHMEDABAD, India), Lex Dingemans (Nijmegen, Netherlands) |
| PI4KA |
Aurora Pujol (Barcelona, Spain), Agusti Rodriguez-Palmero (Badalona, Spain) |
| PIEZO2 |
Brunhilde Wirth (Cologne, Germany), Raoul Heller (Auckland, New Zealand), Mert Karakaya (Cologne, Germany), Andrea Delle Vedove (Cologne, Germany) |
| PIGA |
Philippe Campeau (Monteral, Canada), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Peter Krawitz (Bonn, Germany), Allan Bayat (Dianalund, Denmark) |
| PIGB |
Philippe Campeau (Monteral, Canada), Yoshiko Murakami (Osaka, Japan), Coralie Michaud (Montreal, Canada) |
| PIGC |
Philippe Campeau (Monteral, Canada), Yoshiko Murakami (Osaka, Japan), Coralie Michaud (Montreal, Canada) |
| PIGF |
Philippe Campeau (Monteral, Canada), Yoshiko Murakami (Osaka, Japan), Coralie Michaud (Montreal, Canada) |
| PIGG |
Philippe Campeau (Monteral, Canada), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Peter Krawitz (Bonn, Germany), Allan Bayat (Dianalund, Denmark) |
| PIGK |
Philippe Campeau (Monteral, Canada), Yoshiko Murakami (Osaka, Japan), Coralie Michaud (Montreal, Canada) |
| PIGL |
Philippe Campeau (Monteral, Canada), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Peter Krawitz (Bonn, Germany), Allan Bayat (Dianalund, Denmark) |
| PIGM |
Philippe Campeau (Monteral, Canada), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Peter Krawitz (Bonn, Germany), Allan Bayat (Dianalund, Denmark) |
| PIGN |
Philippe Campeau (Monteral, Canada), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Peter Krawitz (Bonn, Germany), Allan Bayat (Dianalund, Denmark) |
| PIGP |
Philippe Campeau (Monteral, Canada), Yoshiko Murakami (Osaka, Japan), Coralie Michaud (Montreal, Canada) |
| PIGQ |
Philippe Campeau (Monteral, Canada), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Peter Krawitz (Bonn, Germany), Allan Bayat (Dianalund, Denmark) |
| PIGS |
Philippe Campeau (Monteral, Canada), Yoshiko Murakami (Osaka, Japan), Coralie Michaud (Montreal, Canada) |
| PIGW |
Philippe Campeau (Monteral, Canada), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Peter Krawitz (Bonn, Germany), Allan Bayat (Dianalund, Denmark) |
| PIGY |
Philippe Campeau (Monteral, Canada), Yoshiko Murakami (Osaka, Japan), Taroh Kinoshita (Osaka, Japan), Peter Krawitz (Bonn, Germany), 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 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia) |
| POGZ |
Evan Eichler (Seattle, United States), Marjolein Willemsen (Nijmegen, Netherlands) |
| POLR3GL |
Philippe Campeau (Monteral, Canada), Éliane Beauregard-Lacroix (Montreal, Canada) |
| PPM1D |
Sandra Jansen (Nijmegen, Netherlands), Lisenka Vissers (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands), Lennart Slagter (Nijmegen, Netherlands), Cynthia Curry (Fresno, United States), 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) |
| PRORP | William G. Newman (Manchester, 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) |
| QRICH1 | Silke Redler (Düsseldorf, Germany) |
| RAC3 |
Tiong Yang Tan (Melbourne, Australia), Valentin Ruault (Montpellier, France) |
| RBM10 |
John Carey (Salt Lake City, United States), Colleen M. Carlston (San Francisco, United States) |
| RBM28 |
Filippo Pinto e Vairo (Rochester, United States), Susan Baserga (New Haven, United States) |
| RNASET2 |
Jutta Gärtner (Göttingen, Germany), Marco Henneke (Göttingen, Germany), Matthias Kettwig (Göttingen, Germany) |
| RNF113A | Anne Slavotinek (San Francisco, United States) |
| RNU4ATAC |
Philippe Campeau (Monteral, Canada), Coralie Michaud (Montreal, Canada) |
| RORA |
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 |
Emma Palmer (Sydney, Australia), Katherine Howell (Melbourne, Australia), Michael Hildebrand (Melbourne, Australia) |
| SCN9A | Geoffey Woods (Cambridge, United Kingdom) |
| SEC24D |
Keiichi Ozono (Osaka, Japan), Shinji Takeyari (Osaka, Japan) |
| SERAC1 |
Arjan Brouwer (Nijmegen, Netherlands), Saskia Wortmann (Nijmegen, Netherlands) |
| SETBP1 | Evan Eichler (Seattle, United States) |
| SETBP1 related developmental delay | Bregje Bon (Nijmegen, Netherlands) |
| SETBP1 Schinzel-Giedion syndrome | Bregje Bon (Nijmegen, Netherlands) |
| SHANK1 |
Gudrun A. Rappold (Heidelberg, Germany), Thomas Bourgeron (Paris, France), Richard Delorme (Paris, France), Simone Berkel (Heidelberg, Germany) |
| SHANK2 |
Gudrun A. Rappold (Heidelberg, Germany), Thomas Bourgeron (Paris, France), Richard Delorme (Paris, France), Simone Berkel (Heidelberg, Germany) |
| SHANK3 |
Gudrun A. Rappold (Heidelberg, Germany), Thomas Bourgeron (Paris, France), Richard Delorme (Paris, France), Simone Berkel (Heidelberg, Germany) |
| SHH |
Christèle Dubourg (Rennes, France), Sylvie Odent (Rennes, France), Alinoë Lavillaureix (Rennes, France) |
| SHMT2 |
Aurora Pujol (Barcelona, Spain), Agusti Rodriguez-Palmero (Badalona, Spain) |
| SHOX2 |
Gudrun A. Rappold (Heidelberg, Germany), Sandra Hoffmann (Heidelberg, Germany) |
| SIK1 |
Bill Dobyns (Seattle, United States), Alex Paciorkowski (New York, United States) |
| SKI |
Bart Loeys (Antwerp, Belgium), Dorien Schepers (Antwerp, Belgium) |
| SLC12A6 |
Joohyun Park (Tübingen, Germany), Tobias B. Haack (Tübingen, Germany) |
| SLC18A3 | Anna Hakonen (Helsinki, Finland) |
| SLC45A1 |
Myriam Srour (Montreal, Canada), Sarah Alsubhi (Montreal, Canada) |
| SLC6A9 |
Irene Mademont-Soler (Girona, Spain), Dolors Casellas-Vidal (Girona, Spain) |
| SMAD3 |
Bart Loeys (Antwerp, Belgium), Dorien Schepers (Antwerp, Belgium) |
| SMARCA4 |
Eline van der Sluijs (Leiden, Netherlands), Gijs Santen (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) |
| SMARCD1 |
Philippe Campeau (Monteral, Canada), Coralie Michaud (Montreal, Canada) |
| SMARCE1 | Samantha A. Schrier Vergano (Norfolk, 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 |
Veronique Lefebvre (Philadelphia, United States), Cedric le Caignec (Toulouse, France) |
| SPOP |
Bert de Vries (Nijmegen, Netherlands), Maria Nabais Sá (Nijmegen, Netherlands) |
| SPOP GoF |
Bert de Vries (Nijmegen, Netherlands), Maria Nabais Sá (Nijmegen, Netherlands) |
| SPOP LoF |
Lisenka Vissers (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands), Anneke Vulto-van Silfhout (Nijmegen, Netherlands), Maria Nabais Sá (Nijmegen, Netherlands), Philip Jensik (Carbondale, United States), Lex Dingemans (Nijmegen, Netherlands) |
| SRCAP |
Jane Hurst (London, United Kingdom), Lara Menzies (London, United Kingdom) |
| STAG2 | Sérgio D.J. Pena (Belo Horizonte, Brazil) |
| 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) |
| TANGO2 |
Kuntal Sen (Washington, DC, United States), Andrea L. Gropman (Washington, DC, United States) |
| TBC1D24 |
Philippe Campeau (Monteral, Canada), Sanjay Sisodiya (London, United Kingdom) |
| TBCK |
Raghu Prajapati (AHMEDABAD, India), Elizabeth Bhoj (Philadelphia, United States), Xilma Ortiz-Gonzalez (Philadelphia, United States) |
| TBR1 |
Sophie Nambot (Dijon, France), Olaf Bodamer (Boston, United States), Hannelore Ehrenreich (Göttingen, Germany) |
| TBX4 | Ernie Bongers (Nijmegen, Netherlands) |
| TCOF1 |
Dagmar Wieczorek (Düsseldorf, Germany), Ariane Schmetz (Düsseldorf, Germany) |
| TGFB3 | Aline Verstraeten (Antwerp, Belgium) |
| THOC2 |
Michael Field (Waratah, Australia), Jozef Gecz (Adelaide, Australia), Emma Palmer (Sydney, Australia), Jackie Boyle (Waratah, Australia), Raman Kumar (Adelaide, Australia) |
| TMEM126B |
Charlotte Alston (Newcastle upon Tyne, United Kingdom), Robert McFarland (Newcastle upon Tyne, United Kingdom), Robert Taylor (Newcastle upon Tyne, United Kingdom) |
| TMEM231 |
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) |
| TPP2 |
Isis Atallah (Lausanne, Switzerland), Andrea Superti-Furga (Lausanne, Switzerland) |
| TRIO |
Diana Baralle (Southhampton, United Kingdom), Lisenka Vissers (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands), Konstantinos Varvagiannis (Athens, Greece), 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) |
| TRRAP |
Philippe Campeau (Monteral, Canada), Sébastien Küry (Nantes, France), Coralie Michaud (Montreal, Canada), Benjamin Cogné (Nantes, France) |
| TSEN15 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia) |
| TUBB2A |
Stefanie Brock (Brussels, Belgium), Anna Jansen (Antwerp, Belgium) |
| TXNL4A | William G. Newman (Manchester, United Kingdom) |
| 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), Roser Urreizti (Barcelona, Spain) |
| USP7 |
Christian Schaaf (Houston, United States), Pilar Caro (Heidelberg, Germany) |
| VPS13B |
Heng Wang (Middlefield, United States), Baozhong Xin (Middlefield, United States), Sarah Ossler (Middlefield, United States) |
| WAC |
Lisenka Vissers (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands), Konstantinos Varvagiannis (Athens, Greece), Lex Dingemans (Nijmegen, Netherlands) |
| 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 |
Fowzan Alkuraya (Riyadh, Saudi Arabia), Ranad Shaheen (Riyadh, Saudi Arabia), Fadie D. Altuame (Riyadh, Saudi Arabia) |
| WWOX | Rami Aqeilan (Jerusalem, Israel) |
| YY1 |
David Koolen (Nijmegen, Netherlands), Bert de Vries (Nijmegen, Netherlands), Michele Gabriele (Milan, Italy), Giuseppe Testa (Milan, Italy), 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 |
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) |