Below you will find a list of moderators, their affiliations and the genes in which they are involved. If you click on the name of the gene you will be forwarded to the website.
Moderators Name
A.M.J.M. van den Maagdenberg (Netherlands) ATP1A2, CACNA1A
A.V.E. Harder (Netherlands) ATP1A2, CACNA1A
Abdallah F Elias (United States) ZNF148
admin Radboudumc
Adolfo Lopez de Munain (Spain) BSCL2
Adriana Albeanu (Romania)
Agusti Rodriguez-Palmero (Spain) SHMT2, PI4KA, DEGS1, KCNA1
Albandary AlBakheet (Saudi Arabia) KCNA4
Aleksandra Jezela-Stanek (Poland)
Alessandra Maugeri (Netherlands) KDELR2
Alessia Indrieri (Italy) COX7B
Alex Paciorkowski (United States) SIK1
Alexander Hoischen (Netherlands) PHIP
Alfredo Brusco (Italy) ELOVL5
Ali Hassan Alwadei (Saudi Arabia) RUSC2
Alina Kurolap (Israel) CD55
Aline Verstraeten (Belgium) TGFB3
Alinoë Lavillaureix (France) GLI2, SHH
Alisdair McNeill (United Kingdom) MYT1L
Allan Bayat (Denmark) PGAP1, PIGA, PIGG, PIGL, PIGM, PIGN, PIGQ, PIGW, PIGY
Allison Gregory (United States) WDR45
Alyssa Ritter (United States) NKAP, ARCN1
Amelle Shillington (United States) ZMYND11
Amin J. Barakat (United States) GATA3
Ana Ferreiro (France) TRIP4
Andrea Gangfuß (Germany) MEIS2
Andrea Superti-Furga (Switzerland) TPP2
Andrea Delle Vedove (Germany) PIEZO2
Andrea L. Gropman (United States) TANGO2
Andres Nascimento (Spain) CHRNG
Andrew Green (Ireland)
Andrew Fry (United Kingdom) PCGF2
Andrew Wilkie (United Kingdom) ZIC1
Aneek Das Bhowmik (India) HERC1
Angela Morgan (Australia) FOXP2
Angela Peron (United States) BCL11A, SMS
Angela F Brady (United Kingdom) CCDC88A
Anita Rauch (Switzerland) MED13L
Anke Van Dijck (Belgium) ADNP, ZNF711
Anna Hakonen (Finland) SLC18A3, MYH3 autosomal recessive, MYH3 autosomal dominant, MYH3
Anna Jansen (Belgium) TUBB2A
Anna Kolesnik-Taylor (United Kingdom) SYT1, ZDHHC9
Annabelle Chaussenot (France) NDUFS6, SUCLG1
Anne Slavotinek (United States) INTS1, RNF113A
Anneke Vulto-van Silfhout (Netherlands) DEAF1, DEAF1 autosomal recessive, DEAF1 autosomal dominant, SPOP LoF
Anya Revah-Politi (United States) GNB1
Arda Cetinkaya (Turkey) ELMO2, ALX1
Ariane Schmetz (Germany) TCOF1
Arin Bhattacharjee (United States) KCNT2
Arjan de Brouwer (Netherlands) SERAC1
Ashley Pamela Lesle Marsh (Australia) DCC
Ashwin Dalal (India) HERC1
Aurora Pujol (Spain) SHMT2, PI4KA, DEGS1, KCNA1, BSCL2
Baozhong Xin (United States) PEPD, VPS13B
Barbara Borroni (Italy) ELOVL5
Barbara R. Pober (United States) LRP2
Bart Loeys (Belgium) BGN, SKI, SMAD3
Becky Spillmann (United States) IRF2BPL
Benjamin Cogné (France) TRRAP
Bert de Vries (Netherlands) WAC, DEAF1, CHD8, ADNP, ARID1B, YY1, KANSL1, PHIP, PPM1D, TRIO, DEAF1 autosomal recessive, DEAF1 autosomal dominant, FBXO11, SPOP LoF, SPOP, SPOP GoF
Bert Callewaert (Belgium) ZFHX4, FOXP1
Bertrand Isidor (France) PSMD12, LSS
Bill Dobyns (United States) AKT3, ARX, CCND2, CRADD, MTOR, PIK3CA, PIK3R2, SIK1
Björn Menten (Belgium) MYT1L
Bregje van Bon (Netherlands) DYRK1A, SETBP1 related developmental delay, SETBP1 Schinzel-Giedion syndrome
Brian C. Kavanaugh (United States) GPT2
Brian Hon Yin Chung (Hong Kong) MN1, CTNNB1, CHKB
Brunella Franco (Italy) OFD1, COX7B
Brunhilde Wirth (Germany) PIEZO2
Bruno Reversade (Singapore) UGDH
Cara Skraban (United States) WDR26
Carl Ernst (Canada) ACTL6B recessive
Carla Marini (Italy) HCN1
Carlo Sala (Italy) IL1RAPL1
Carlo Dionisi-Vici (Italy) SUCLA2
Carlo Rivolta (United Kingdom) CEP78
Carlos R. Ferreira (United States) COG4, ENPP1
Carmen Espinós (Spain)
Caroline Racine (France) UNC45A
Catarina M. Quinzii (United States) COQ2
Cécile Rouzier (France) NDUFS6, SUCLG1
Cedric le Caignec (France) SOX6
Charlene Williams (United States) ANKH
Charles E. Schwartz (United States) SMS
Charlotte Ockeloen (Netherlands) ANKRD11
Charlotte L Alston (United Kingdom) NDUFA6, NDUFAF8, TMEM126B
Cheryl Shoubridge (Australia) IQSEC2
Chiara Terracciano (Italy) LAMA5
Chris Gordon (France) MN1, ANKRD17
Christel Depienne (Germany) HCN1, KCNN2, CHD5
Christèle Dubourg (France) GLI2, SHH
Christian Schaaf (United States) NR2F1, MAGEL2, USP7
Christian A. Hübner (Germany) GMPPA
Christopher Mak (Hong Kong) MN1
Claudia Gonzaga-Jauregui (United States) BMP2, COL27A1, PRUNE1
Claudio Graziano (Italy) SOX4
Colleen M. Carlston (United States) RBM10
Constantine A. Stratakis (United States) ARMC5, PRKAR1A
Coralie Michaud (Canada) TRRAP, RNU4ATAC, SMARCD1, OXR1, KAT5, GPAA1, PIGB, PIGC, PIGF, PIGK, PIGP, PIGS, FN1 GFND2, FN1-SMDCF, FN1
Corrado Romano (Italy) ADGRB3
Cristina Dias (United Kingdom) BCL11A, SMARCB1
Cristina Has (Germany) KLHL24
Cungui Mao (United States) ACER3
Cynthia Curry (United States) PPM1D
Dagmar Wieczorek (Germany) TRIP12, TCOF1
Daniel Calame (United States) NSRP1
Daniel Natera de Benito (Spain)
Daniel Natera de Benito (Spain) CHRNG
Danielle Bosch (Netherlands) NR2F1
Darius Ebrahimi-Fakhari (United States) AP4B1, AP4E1, AP4M1, AP4S1
David Amor (Australia) IREB2
David Koolen (Netherlands) YY1, KANSL1, MYT1L, CLTC
David Hunt (United Kingdom)
David Sillence (Australia) PLOD3
David Viskochil (United States) BCL11A
David J. Pagliarini (United States) NDUFAF8
Davor Lessel (Germany) DHX30
Debbie Shears (United Kingdom) ZIC1
Debopam Samanta (United States) GABBR2
Diana Le Duc (Germany) WDFY3
Diana Baralle (United Kingdom) TRIO, PURA
Dierk Niessing (Germany) PURA
Dilek Colak (Saudi Arabia) KCNA4, ISCA2
Dilşad Türkdoğan (Turkey) DOCK7
Dimitra Micha (Netherlands) KDELR2
Dolors Casellas-Vidal (Spain) SLC6A9
Dominique Herve (France) LAMB1 Autosomal Dominant
Donna Martin (United States) ASXL3
Dorien Baetens (Belgium) NR5A1
Dorien Schepers (Belgium) SKI, SMAD3
Dorothea Schulte (Germany) MEIS2
Edward Vernhout (Netherlands)
Elena Parrini (Italy) LIS1
Elfride De Baere (Belgium) NR5A1
Éliane Beauregard-Lacroix (Canada) POLR3GL
Elisa Rahikkala (Finland) P4HTM
Elisa Calí (United Kingdom) PRMT7
Elizabeth Bhoj (United States) TBCK, CSNK1G1
Emma Clement (United Kingdom) SMARCB1
Emma Palmer (Australia) CLCN4, IQSEC2, PCDH19, THOC2, ZSWIM6, PUM1, SCN2A, ATN1, KCNT2
Emma L. Veale (United Kingdom) KCNK9
Ender Karaca (United States) CLP1
Enza Maria Valente (Italy) CEP120
Eric M. Morrow (United States) GPT2
Erica Davis (United States) RORA
Erik van Heesbeen (Canada) CHD3
Erik Sistermans (Netherlands) AUTS2
Erika Fernandez-Vizarra (United Kingdom) APOPT1
Ernie Bongers (Netherlands) GMNN, TBX4
Ernst Reichenberg (United States) ANKH
Eun-Young Erin Ahn (United States) SON
Eva Morava-Kozicz PGM1
Eva van Walree (Netherlands) HEY2
Eva Trevisson (Italy) COQ2
Evan Eichler (United States) CHR1Q21, SETBP1 , CHD2, CHD8, DYRK1A, ADNP, KANSL1, POGZ
Fabio R. Faucz (United States) ARMC5, PRKAR1A
Fadie D. Altuame (Saudi Arabia) SMG9, RTTN, UNC80, RSPRY1, ASPH, DDX59, LRPAP1, MEOX1, PHGDH, C12orf57, ADAT3, FBXL4, ELOVL4, NECAP1, DOCK6, MPDZ, PUS3, DCAF17, LARP7, MFF, TAF6, WDR81, TMEM231, TNIK, TSEN15, PTPN23, FAM149B1, TMEM94, EOGT, ARL14EP, GZF1, KIAA1109, TRMT1, ALKBH8, AP1B1, POC1A, SMG8, ABCA2, ATXN2L, P4HTM, MYO18B, PERP recessive
Fady Hannah-Shmouni (United States) ARMC5, PRKAR1A
Fanny Mochel (France) KCNN2
Fernando Santos-Simarro (Spain) ZFHX4, CEP57, LIFR
Filippo Pinto e Vairo (United States) RBM28
Filomena Napolitano (Italy) LAMA5
Florence Riccardi (France) MEF2C
Fowzan Alkuraya (Saudi Arabia) NKX6-2, SMG9, RTTN, UNC80, RSPRY1, ASPH, DDX59, LRPAP1, MEOX1, PHGDH, C12orf57, ADAT3, FBXL4, ELOVL4, NECAP1, DOCK6, MPDZ, PUS3, DCAF17, LARP7, MFF, TAF6, WDR81, TMEM231, TNIK, TSEN15, PTPN23, ATN1, FAM149B1, TMEM94, EOGT, ARL14EP, GZF1, KIAA1109, TRMT1, ALKBH8, AP1B1, POC1A, SMG8, ABCA2, ATXN2L, P4HTM, MYO18B, PERP recessive
Francesca Fusco (Italy) IKBKG/NEMO
Francesco Nicita (Italy) ATP1A1
Frank Kooy (Belgium) ADNP, ZNF711
Frederico Forneris (Italy) PLOD3
Gabrielle Lemire (Canada) KAT6B
Gaëtan Lesca (France) RORA
Gea Beunders (Netherlands) AUTS2
Geeske van Woerden (Netherlands) CAMK2A, CAMK2B
Geoffey Woods (United Kingdom) CLTCL1, NGF, NTRK1, PRDM12, SCN9A, SCN11A, CCDC88A
Ghayda Mirzaa (United States) AKT3, CCND2, MTOR, PIK3CA, PIK3R2
Gholson Lyon (United States) ANKRD11, TAF1, NAA10, NAA15
Gijs Santen (Netherlands) ARID1B, SMARCA4, ARID1A, ARID2
Gina Ravenscroft (Australia) ADGRG6
Ginevra Zanni (Italy) ATP2B3
Giovanni Iolascon (Italy) LAMA5
Giuseppe Testa (Italy) YY1
Gorka Fernández-Eulate (France) BSCL2
Gudrun A. Rappold (Germany) SHOX2, SHANK1, SHANK2, SHANK3
Hagit Baris Feldman (Israel) CD55
Han Brunner (Netherlands) PACS1
Hanan E Shamseldin (Saudi Arabia) RTTN, UNC80, DDX59, MFF
Hannelore Ehrenreich (Germany) TBR1
Haseena Sait (India) NFIX
Hazrat Ali Khan (Pakistan) LMAN2L
Heather Mefford (United States) CHR1Q21
Hélène Morel (France) LAMB1 Autosomal Dominant
Helly Patel
Heng Wang (United States) PEPD, VPS13B
Henry Houlden (United Kingdom) CLN5, NFASC, NARS1
Hilde Van Esch (Belgium) MECP2 duplication, LMNB1
Ho-ming Luk (China) CTNNB1
Hsiao-Tuan Chao (United States) EBF3, EIF2AK2, EIF2AK1
Huda Zoghbi (United States) CIC
Hugo Bellen (United States) IRF2BPL
I-ping Chen (United States) ANKH
I.M.M. van den Bogaard (Netherlands)
Ichizo Nishino (Japan) CHKB
Ilaria Parenti (Germany) CHD5
Ilona Krey (Germany) GRIN2A, GRIN2B, GRIN2D, GRIN1
Imke van den Bogaard (Netherlands)
Inge Mathijssen (Netherlands) HEY2
Ingo Borggräfe (Germany) CCDC186
Ingrid Scheffer (Australia) PCDH19
Ingrid M.B.H. van de Laar (Netherlands) ASNA1
Irene Mademont-Soler (Spain) SLC6A9
Irene Valenzuela Palafoll (Spain) ASXL3
Isabelle Duband-Goulet (France) TRIP4
Isis Atallah (Switzerland) TPP2
Ivan Fai-man Lo (China) CTNNB1
J.G.J. Hoenderop (Netherlands) CNNM2, HNF1B
J.H.F. de Baaij (Netherlands) CNNM2, HNF1B
Jackie Boyle (Australia) IQSEC2, THOC2
Jade England (Canada) FN1 GFND2, FN1-SMDCF, FN1
Jamal Ghoumid (France) CDH1, CTNND1
James R. Lupski (United States) CLP1, NSRP1
Jan Maarten Cobben (United Kingdom)
Jane Hurst (United Kingdom) SRCAP
Janneke Schuurs-Hoeijmakers (Netherlands) PACS1
Jannette Mailo (Canada) PTPN23
Jason Tchieu (United States) ZMYND11
Jean-François Benoist (France) MMUT
Jennifer Gordon (United States) PURA
Jeroen Ewals
Jessica Radley (United Kingdom) IQSEC2
Jill Clayton-Smith (United Kingdom) CNKSR2
Jimmy Lloyd Holder (United States) PUM1
Jirko Kühnisch (Germany) PRDM16
Joanna Walczak-Sztulpa (Poland) WDR35
Johanna C. Herkert (Netherlands) ALPK3
Johannes Lemke (Germany) GRIN2A, GRIN2B, GRIN2D, GRIN1
John Carey (United States) SON, RBM10
John Christodoulou (Australia) NRROS
John A Sayer (United Kingdom) ARL3
John M. Graham Jr. (United States) KCNK9
Joohyun Park (Germany) SLC12A6
Josephina Meester (Belgium) BGN
Joshi Stephen (United States) TMEM94, EIF2AK2, EIF2AK1
Jovana Kovacevic (Netherlands) STXBP1
Jozef Gecz (Australia) PCDH19, THOC2, ZSWIM6
Judith M.A. Verhagen (Netherlands) ALPK3, ASNA1
Juliette Piard (France) CDK10
Jutta Gärtner (Germany) RNASET2
Karen Low (United Kingdom) ANKRD11
Karin Weiss (Israel) CHD4
Kate Baker (United Kingdom) SYT1, ZDHHC9
Kate Tatton-Brown (United Kingdom) EZH2, NSD1, DNMT3A, HIST1H1E
Katherine Anderson (United States)
Katherine Howell (Australia) SCN2A
Kathleen Gorman (United Kingdom) KMT2B
Katta Mohan Girisha (India) HHAT
Keiichi Ozono (Japan) SEC24D
Kelly Schoch (United States) ASXL2, NACC1
Keren Machol (United States) SMARCC2
Ketan b
Kim Truijen CHD8
Kim Aldinger (United States)
Konstantinos Zarbalis (United States) WDFY3
Konstantinos Nikopoulos (Switzerland) CEP78
Konstantinos Varvagiannis (Greece) WAC, TRIO
Korbinian M. Riedhammer (Germany) CLDN11
Kosuke Izumi (United States) NKAP, ARCN1
Kristy Kolc (Australia) PCDH19
Kuntal Sen (United States) TANGO2
Kwame Anyane-Yeboa (United States) GNB1
Lara Menzies (United Kingdom) SRCAP
Laura J Powell (United Kingdom) ARL3
Laurence Faivre (France) UNC45A
Laurent Villard (France) BCAP31
Laurent Pasquier (France) RORA
Leigh A.M. Demain (United Kingdom) CLPP, ERAL1, LARS2, HARS2
Lennart Slagter (Netherlands) PPM1D, PPP2CA
Lex Dingemans (Netherlands) WAC, DEAF1, CHD8, ADNP, ARID1B, YY1, KANSL1, PHIP, PPM1D, TRIO, DEAF1 autosomal recessive, DEAF1 autosomal dominant, CDK13, EHMT1, DDX3X, SPOP LoF, KDM3B, Deletion 22q11, DNMT3A gain of function
Lionel van Maldergem (France) CDK10
Lisa Ewans (Australia) PLOD3
Lisenka Vissers (Netherlands) WAC, DEAF1, PPM1D, TRIO, DEAF1 autosomal recessive, DEAF1 autosomal dominant, PPP2CA, SON, FBXO11, SPOP LoF
Loren Pena (United States) ASXL2, IRF2BPL
Lucinda Murray (Australia) ZSWIM6
Lukáš Ryba (Czech Republic) KCNN3
Lynette Sadleir (New Zealand) PCDH19
M.J.V. Hoffer (Netherlands) ATP1A2, CACNA1A
Maarten Lequin (Netherlands) EML1
Magnus Nordjenskjold (Sweden)
Maha A. Faden (Saudi Arabia) RSPRY1
Mala Misra-Isrie (Netherlands) STXBP1
Mandy HY Tsang (Hong Kong) CTNNB1
Manju Kurian (United Kingdom) KMT2B
Manon Suerink (Netherlands)
Marcello Scala (Italy) PRMT7
Marco Fichera (Italy) ADGRB3
Marco Henneke (Germany) RNASET2
Marelise Eekhoff (Netherlands) KDELR2
Margaret Au (United States)
Margje Sinnema (Netherlands) AHDC1
Margot Reijnders (Netherlands) PURA
Margot A. Cousin (United States) KCNK9
Mari Tokita (United States) ACTL6A
Maria Nabais Sá (Netherlands) DEAF1, DEAF1 autosomal recessive, DEAF1 autosomal dominant, SPOP LoF, SPOP, SPOP GoF
Maria J. Guillen Sacoto (United States) MORC2, MEIS2
María Palomares Bralo (Spain) ZFHX4, CEP57
Mariëlle Alders (Netherlands)
Mariet Elting (Netherlands) KDELR2
Marina Melone (Italy) LAMA5
Marjolein Willemsen (Netherlands) POGZ
Mark Corbett (Australia)
Mark Durham (United States) CIC
Markéta Havlovicová (Czech Republic) KCNN3
Marta Pacio Miguez (Spain) CEP57
Martin Breuss (United States) HEATR5B
Martin Schwarz (Czech Republic) KCNN3
Martine Cools (Belgium) NR5A1
Massimo Zeviani (United Kingdom) APOPT1
Matias Wagner (Germany) CCDC186, MSL3
Matilde Valeria Ursini (Italy) IKBKG/NEMO
Matthew Deardorff (United States) WDR26, KCNK9
Matthew, Hunter (Australia)
Matthias Kettwig (Germany) RNASET2
Matthijs Verhage (Netherlands) STXBP1
Maurizio Taglialatela (Italy) KCNQ2, KCNQ3
Mauro Longoni (United States) LRP2
Maya Chopra (United States) ANKRD17
Maysoon Alsagob (Saudi Arabia) KCNA4, ISCA2
Mazhor S. Aldosary (Saudi Arabia) ISCA2
Megan Rech (United States) MAGEL2
Mehul Kumar (Netherlands)
Mehul Mistry (India)
Melanie Brugger (Germany) CCDC186
Melissa DiBacco (United States) ABAT
Merlin Butler (United States) ADAMTSL2 autosomal dominant, ADAMTSL2 autosomal recessive, ADAMTSL2
Mert Karakaya (Germany) PIEZO2
MICHAEL FAHEY (Australia)
Michael Gibson (United States) ABAT
Michael Field (Australia) BRWD3, THOC2, ZSWIM6
Michael Fountain (United States) MAGEL2, MAGEL2
Michael Hildebrand (Australia) SCN2A
Michael Lyons (United States) MED12
Michael Wangler (United States) NACC1
Michael Terrence Gabbett (Australia) KCNH1
Michael F. Wangler (United States) EBF3
Michel Koenig (France) RORA
Michel Verbruggen (Netherlands)
Michele Gabriele (Italy) YY1
Mieke van Haelst (Netherlands) STXBP1
Mike Friez (United States) MED12
Mohamed Al-Owain (Saudi Arabia) KCNA4
Mohnish Suri (United Kingdom) AP1B1
Myriam Srour (Canada) SLC45A1
Nadieh Jansen (Netherlands)
Namik Kaya (Saudi Arabia) KCNA4, ISCA2
Nataliya Di Donato (Germany) CRADD
Nathalie van der Aa (Belgium)
Nina B. Gold (United States) CSNK1G1
Nisha Patel (Saudi Arabia) ASPH, GZF1
Noraly Jonis (Netherlands)
Noraly Jonis (Netherlands)
Nuria Brämswig (Germany) TRIP12, ARID2
Nurten Akarsu (Turkey) ELMO2, ALX1
Olaf Bodamer (United States) TBR1
Paul C. Marcogliese (United States) IRF2BPL
Pawel Stankiewicz (United States) BPTF, PSMD12
Peter Krawitz (Germany) PGAP1, PIGA, PIGG, PIGL, PIGM, PIGN, PIGQ, PIGW, PIGY
Peter Turnpenny (United Kingdom) PCGF2
Petra Zwijnenburg (Netherlands) HNRNPK
Philip Jensik (United States) DEAF1, DEAF1 autosomal recessive, DEAF1 autosomal dominant, SPOP LoF
Philippe Campeau (Canada) NCOR2, TBC1D24, SMARCC2, PGAP1, CHD3, POLR3GL, ACTL6B dominant, ACTL6B recessive, ACTL6B, TRRAP, RNU4ATAC, SMARCD1, OXR1, KAT5, PIGA, PIGG, PIGL, PIGM, PIGN, PIGQ, PIGW, PIGY, KAT6B, GPAA1, PIGB, PIGC, PIGF, PIGK, PIGP, PIGS, FN1 GFND2, FN1-SMDCF, FN1
Phillip Pearl (United States) ABAT
Pietro Farinelli (Denmark) CEP78
Pilar Caro (Germany) USP7
Pu Dai (China) ATP6V1B2
Queenie K-G Tan (United States) FOXP3
R.C. Heesakkers (Netherlands)
R.C.A. de Wit (Netherlands)
Rachel Wurth (United States) ARMC5, PRKAR1A
Rafael Artuch (Spain) UROC1
Rafiullah Rafiullah (Saudi Arabia) LMAN2L
Raghu R Prajapati (India) DYRK1A, MYT1L, ANKRD11, NSD1, TBCK, DDX59, C12orf57, DCAF17
Raman Kumar (Australia) THOC2, ZSWIM6
Rami Aqeilan (Israel) WWOX
Rami Abou Jamra (Germany) WDFY3
Ranad Shaheen (Saudi Arabia) SMG9, PHGDH, DOCK6, MPDZ, PUS3, WDR81, TMEM231, ARL14EP
Raoul Heller (New Zealand) PIEZO2
Raphael Bernier (United States) CHD8
Rawan Almass (Saudi Arabia) KCNA4, ISCA2
Raymond J Louie (United States) FOXP3
Rebecca de Wit (Netherlands)
Rebecca Macintosh (Australia) KCNT2
Rebecca Sayer (United Kingdom) CNKSR2
Renske Oegema (Netherlands) EML1
Renzo Guerrini (Italy) LIS1
Reza Asadollahi (Switzerland) MED13L
Reza Maroofian (United Kingdom) PRMT7
Rich Steet (United States) LMNB1
Richard Delorme (France) SHANK1, SHANK2, SHANK3
Robert McFarland (United Kingdom) NDUFA6, NDUFAF8, TMEM126B
Robert W Taylor (United Kingdom) NDUFA6, NDUFAF8, TMEM126B
Rocío Nur Villar Quiles (France) TRIP4
Rolph Pfundt (Netherlands) ANKRD11
Ron A. Wevers (Netherlands) SUCLA2
Ronit Marom (United States) ACTL6A
Roser Urreizti (Spain) UROC1
Rui Chen (United States) CWC27
Ruifang Sui (China) CWC27
Sabine Klaassen (Germany) PRDM16
Sajel Lala Kana (United States) GATA3
Sakkubai Naidu (United States) HIVEP2, BRAT1
Sam van de Ven (Netherlands)
Samantha A. Schrier Vergano (United States) SMARCE1
Sander Stegmann (Netherlands) AHDC1
Sandra Jansen (Netherlands) PHIP, PPM1D, PPP2CA, FBXO11
Sandra Whalen (France) BCAP31
Sandra Hoffmann (Germany) SHOX2
Sandra Mercier (France) CAMK2A, CAMK2B, FAM111B
Sanjay Sisodiya (United Kingdom) TBC1D24
Sarah Weckhuysen (Belgium) KCNQ2, KCNQ3
Sarah Alsubhi (Canada) SLC45A1
Sarah Ossler (United States) PEPD, VPS13B
Sarah Vergult (Belgium) ZFHX4
Sarju Mehta (United Kingdom)
Saskia Koene (Netherlands) FOXP1
Saskia Wortmann (Netherlands) SERAC1
Saumya Shekhar Jamuar (Singapore) UGDH, DCC
Sébastien Küry (France) CAMK2A, CAMK2B, PSMD12, FAM111B, RORA, TRRAP
Sérgio D.J. Pena (Brazil) STAG2
Servi JC Stevens (Netherlands) ZNF148
Shagun Aggarwal (India) HERC1
Shahid I ajmeri (India) PHIP
Shinji Takeyari (Japan) SEC24D
Shital Tester (India) AHDC1, ADAT3
Shruti Pande (India) HHAT
Shubha R Phadke (India) CHST3, NFIX
Siddharth Srivastava (United States) HIVEP2, BRAT1
Silke Redler (Germany) QRICH1
Silvia Radenkovic (United States) PGM1
Simon Fisher (Netherlands) FOXP2
Simone Race (Canada) CLDN11
Simone Berkel (Germany) SHANK1, SHANK2, SHANK3
Simone Sampaolo (Italy) LAMA5
Sixto García-Miñaúr (Spain) ZFHX4
Sofia Pérez (Portugal)
Sofia Douzgou (United Kingdom) MEF2C
Sofía Maritza Siccha Arancibia (Spain) LIFR
Somya Srivastava (India) CHST3
Sophelia Hoi Shan HS Chan (China) CHKB
Sophie Nambot (France) TBR1
Stefan Arold (Saudi Arabia) ATN1
Stefanie Brock (Belgium) TUBB2A
Stephanie Efthymiou (United Kingdom) CLN5, NFASC, NARS1
Stephanie Ho (China) CTNNB1
Stephanie Ho (China)
Stephanie Bielas (United States) ASXL3
Steve Twigg (United Kingdom) ZIC1
Sue White (Australia) NRROS
Susan Baserga (United States) RBM28
Susan Hayflick (United States) WDR45
Susanne Roosing (Netherlands) CEP120
Sylvia Stockler (Canada) CLDN11
Sylvie Manouvrier (France) CDH1, CTNND1
Sylvie Odent (France) GLI2, SHH
Tamar Ben-Yosef (Israel) SCAPER
Taroh Kinoshita (Japan) PGAP1, PIGA, PIGG, PIGL, PIGM, PIGN, PIGQ, PIGW, PIGY
Teresa Esposito (Italy) LAMA5
Theresa Brunet (Germany) MSL3
Thomas Besnard (France) LSS
Thomas Carpenter (United States) ANKH
Thomas Bourgeron (France) SHANK1, SHANK2, SHANK3
Tiong Yang Tan (Australia) BMP2, RAC3
Tobias B. Haack (Germany) SLC12A6
Tony Roscioli (Australia) PLOD3
Tracy Dudding-Byth (Australia) IQSEC2
Ulrike Steuerwald (Faroe Islands) SUCLA2
Valentin Schriever (Germany)
Valentin Ruault (France) RAC3
Valentina Serpieri (Italy) CEP120
Vandana Shashi (United States) ASXL2, NACC1, SMARCC2, IRF2BPL
Vanesa Lerma (United States) EIF2AK2, EIF2AK1
Vasudevan Pradeep (United Kingdom) AHDC1
Vera Kalscheuer (Germany) CLCN4
Veronique Lefebvre (United States) SOX4, SOX6
Vincenzo Alessandro Gennarino (United States) PUM1
Viorica Chelban (United Kingdom) NKX6-2
William Newman (United Kingdom)
William G. Newman (United Kingdom) CLPP, ERAL1, LARS2, HARS2, HPSE2, LRIG2, TXNL4A, PRORP
Xi Lin (United States) ATP6V1B2
Xilma Ortiz-Gonzalez (United States) TBCK
Yaping Yang (United States) BPTF
Yongyi Yuan (China) ATP6V1B2
Yoshiko Murakami (Japan) PGAP1, PIGA, PIGG, PIGL, PIGM, PIGN, PIGQ, PIGW, PIGY, PIGB, PIGC, PIGF, PIGK, PIGP, PIGS
Yuri Zarate (United States) SATB2, GABBR2
Zuhair AlHassnan (Saudi Arabia) ISCA2

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