| A Haseena Sait (India) |
NFIX, SNX14, DVL1, ROR2 |
| A.M.J.M. van den Maagdenberg (Netherlands) |
ATP1A2, CACNA1A |
| A.V.E. Harder (Netherlands) |
ATP1A2, CACNA1A |
| Aadhira Nair (India) |
GM2A, LINS1, NEUROG1 |
| Abdallah F Elias (United States) |
ZNF148 |
| Adolfo Lopez de Munain (Spain) |
BSCL2 |
| Adriana Albeanu (Romania) |
|
| Agusti Rodriguez-Palmero (Spain) |
SHMT2, PI4KA, DEGS1, KCNA1 |
| Ahmad Daraghmeh (United Arab Emirates) |
|
| Ahmed Alfares (Saudi Arabia) |
EMC10, KIF16B, RAP1GDS1 |
| Alanna Strong (United States) |
MBTPS2, AMOTL1 |
| Alayna Haynam |
|
| Albandary AlBakheet (Saudi Arabia) |
KCNA4 |
| Alberto Berardi (Italy) |
COG6 |
| Aleksandra Jezela-Stanek (Poland) |
FLCN, SERPINA1, PIGV |
| Alessandra Murgia (Italy) |
TANC2 |
| Alessandra Tonelli |
|
| Alessandra Maugeri (Netherlands) |
KDELR2 |
| Alessandro De Luca (Italy) |
|
| Alessandro Morigi (Italy) |
|
| Alessia Indrieri (Italy) |
COX7B, NDUFB11 |
| Alex Kennedy |
|
| Alex Paciorkowski (United States) |
SIK1 |
| Alexander Hoischen (Netherlands) |
PHIP |
| Alfredo Brusco (Italy) |
ELOVL5 |
| Ali Hassan Alwadei (Saudi Arabia) |
RUSC2 |
| Alicia Holcombe |
|
| Alina Kurolap (Israel) |
CD55 |
| Aline Verstraeten (Belgium) |
TGFB3 |
| Alinoë Lavillaureix (France) |
GLI2, SHH |
| Alisdair McNeill (United Kingdom) |
MYT1L |
| Alison Freed (United States) |
PANK2, PLA2G6 |
| Allan Bayat (Denmark) |
PGAP1, PIGA, PIGG, PIGL, PIGM, PIGN, PIGQ, PIGW, PIGY, GRIA1/GRIA2/GRIA3/GRIA4 |
| Allisa Rivara (United States) |
|
| Allison Gregory (United States) |
WDR45, PANK2, PLA2G6 |
| Alma Kuechler (Germany) |
SOX5 |
| Álvaro Hermida Ameijeiras (Spain) |
EARS2, FOXRED1, AGK |
| Alyssa Ritter (United States) |
NKAP, ARCN1 |
| Amaia Lasa (Spain) |
|
| Amanda Schmid |
|
| Amelle Shillington (United States) |
ZMYND11 |
| Amin J. Barakat (United States) |
GATA3 |
| Amir Bahraini (Iran (Islamic Republic of)) |
|
| Ana Ferreiro (France) |
TRIP4 |
| Anais Begemann (Switzerland) |
CYFIP2 |
| Andre Megarbane (Lebanon) |
CNTNAP1, TMTC3 |
| Andre Superti-Furga (Switzerland) |
B4GALT7 |
| André S. Bachmann (United States) |
ODC1 |
| Andrea Accogli (Canada) |
CNTNAP2, NAA20 |
| Andrea Buccella |
|
| Andrea Gangfuß (Germany) |
MEIS2 |
| Andrea Meredith (United States) |
|
| Andrea Superti-Furga (Switzerland) |
TPP2 |
| Andrea Delle Vedove (Germany) |
PIEZO2 |
| Andrea L. Gropman (United States) |
TANGO2 |
| Andreana Balletti |
|
| Andreana Balletti |
|
| Andres Nascimento (Spain) |
CHRNG |
| Andrew Green (Ireland) |
|
| Andrew Fry (United Kingdom) |
PCGF2 |
| Andrew Wilkie (United Kingdom) |
ZIC1 |
| Aneal Khan (Canada) |
DNAJC19 |
| Aneek Das Bhowmik (India) |
HERC1 |
| Angela McMillen |
|
| Angela Peron (Italy) |
|
| Angela Peron (United States) |
BCL11A, SMS |
| Angela Morgan (Australia) |
FOXP2 |
| Angela F Brady (United Kingdom) |
CCDC88A |
| Anita Rauch (Switzerland) |
MED13L, CYFIP2 |
| Anjana Kar (India) |
ARMC9 |
| Anju Shukla (India) |
AIMP2 |
| Anke Van Dijck (Belgium) |
ADNP, ZNF711 |
| Anna Hakonen (Finland) |
SLC18A3, MYH3 autosomal recessive, MYH3 autosomal dominant, MYH3 |
| Anna Jansen (Belgium) |
TUBB2A |
| Anna Zambon |
|
| Anna Kolesnik-Taylor (United Kingdom) |
SYT1, ZDHHC9 |
| Anna Mª Cueto-González (Spain) |
|
| Annabelle Chaussenot (France) |
NDUFS6, SUCLG1 |
| Anne O'Donnell Luria (United States) |
KMT2E |
| Anne Perry |
|
| Anne Slavotinek (United States) |
INTS1, RNF113A |
| Anneke Vulto-van Silfhout (Netherlands) |
DEAF1, DEAF1 autosomal recessive, DEAF1 autosomal dominant, SPOP LoF, POC5 |
| Anneke Vulto-van Silfhout (Netherlands) |
|
| Annesofie Faurschou |
|
| Annette von Wilckens |
|
| Anthony Reisdorff |
|
| Antje Wiesener (Germany) |
|
| Antonella Cappellino |
|
| Antonella Stravato |
|
| Antonio Pizzuti (Italy) |
ASCC1 |
| Anya Revah-Politi (United States) |
GNB1 |
| Arda Cetinkaya (Turkey) |
ELMO2, ALX1 |
| Arden Rae Wheeler (United States) |
PPFIA3 |
| Aria Batut (France) |
SHANK2, SHANK3 |
| Ariane Schmetz (Germany) |
TCOF1 |
| Arin Bhattacharjee (United States) |
KCNT2 |
| Arjan de Brouwer (Netherlands) |
SERAC1 |
| Asburce Olgac (Turkey) |
COQ9, MAN1B1 |
| Ashley Pamela Lesle Marsh (Australia) |
DCC |
| Ashwin Dalal (India) |
HERC1, ARMC9 |
| Asude Durmaz (Turkey) |
|
| Attila Ambrus (Hungary) |
DLD |
| Audrey Squire (United States) |
|
| Aurora Pujol (Spain) |
SHMT2, PI4KA, DEGS1, KCNA1, BSCL2 |
| Ayeshah Chaudhry (Canada) |
PTCHD1 |
| Baozhong Xin (United States) |
PEPD, VPS13B, TMCO1 |
| Barbara Hawthorne (United States) |
|
| BARBARA MASOTTO (Spain) |
|
| Barbara Borroni (Italy) |
ELOVL5 |
| Barbara R. Pober (United States) |
LRP2 |
| Bart Loeys (Belgium) |
BGN, SKI, SMAD3 |
| Bea Torres-Fults (United States) |
TMCO1 |
| Beckett Walsh |
|
| Becky Tilley |
|
| Becky Weaver |
|
| Becky Spillmann (United States) |
IRF2BPL |
| Benjamin Cogné (France) |
TRRAP |
| Benoit Arveiler (France) |
DCT, BLOC1S5 |
| Benoit Arveiler (France) |
|
| Benoit J Gentil (Canada) |
SACS |
| Bernard Brais (Canada) |
FGF14 |
| Bert de Vries (Netherlands) |
ADNP, ARID1B, CHD8, TRIO, PHIP, KANSL1, WAC, YY1, PPM1D, DEAF1, DEAF1 autosomal recessive, DEAF1 autosomal dominant, SPOP LoF, FBXO11, SPOP, SPOP GoF, PHF5A |
| Bert Callewaert (Belgium) |
ZFHX4, FOXP1 |
| Bertrand Isidor (France) |
PSMD12, LSS |
| Bill Dobyns (United States) |
SIK1, PIK3R2, PIK3CA, ARX, AKT3, CCND2, CRADD, MTOR |
| Birgitt Schuele (United States) |
NUBPL |
| Björn Menten (Belgium) |
MYT1L |
| Blake Ivers (United States) |
|
| Bregje van Bon (Netherlands) |
DYRK1A, SETBP1 related developmental delay, SETBP1 Schinzel-Giedion syndrome |
| Brian McMahon |
|
| Brian C. Kavanaugh (United States) |
GPT2 |
| Brian Hon Yin Chung (Hong Kong) |
MN1, CTNNB1, CHKB |
| Brunella Franco (Italy) |
OFD1, COX7B, NDUFB11 |
| Brunhilde Wirth (Germany) |
PIEZO2 |
| Bruno Reversade (Singapore) |
UGDH |
| Calder Hamill (Australia) |
ADARB1, FBXW7 |
| Caleb Bupp (United States) |
ODC1 |
| 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) |
|
| Carole Linster (Australia) |
NAXD, NAXE |
| Caroline Massola (Australia) |
|
| Caroline Racine (France) |
UNC45A |
| Carson Marcus |
|
| Catarina M. Quinzii (United States) |
COQ2, RMND1 |
| Catherine Sarret (France) |
|
| Catia Mio (Italy) |
MED13 |
| Cécile Rouzier (France) |
NDUFS6, SUCLG1 |
| Cedric le Caignec (France) |
SOX6 |
| Celia Azevedo Soares (Portugal) |
|
| Chaitnya Datar (India) |
GM2A |
| Charlene Williams (United States) |
ANKH |
| Charles E. Schwartz (United States) |
SMS |
| Charlotte von der Lippe (Norway) |
ZBTB7A |
| Charlotte Ockeloen (Netherlands) |
ANKRD11 |
| Charlotte L Alston (United Kingdom) |
NDUFA6, NDUFAF8, TMEM126B |
| Cheryl Shoubridge (Australia) |
IQSEC2 |
| Cheryll Powers |
|
| Chiara Pantaleoni (Italy) |
TELO2 |
| Chiara Terracciano (Italy) |
LAMA5 |
| Chris Richmond (Australia) |
CA8 |
| Chris Gordon (France) |
MN1, ANKRD17 |
| Christa de Geus (Netherlands) |
|
| Christel Depienne (Germany) |
HCN1, KCNN2, CHD5, SOX5 |
| Christèle Dubourg (France) |
GLI2, SHH |
| Christian Peña-Padilla (Mexico) |
EFNB1 |
| Christian Schaaf (United States) |
NR2F1, MAGEL2, USP7, PRKAR1B |
| Christian A. Hübner (Germany) |
GMPPA |
| Christina Votsi (Cyprus) |
ANO10 |
| Christopher Mak (Hong Kong) |
MN1 |
| Claire Barton (United States) |
|
| Clara Velmans (Germany) |
|
| Claudia Cerezo (United States) |
PPFIA3 |
| Claudia Ciaccio (Italy) |
TELO2 |
| Claudia Gonzaga-Jauregui (United States) |
BMP2, COL27A1, PRUNE1 |
| Claudio D'Incal (Belgium) |
ADNP |
| Claudio Graziano (Italy) |
SOX4 |
| Cole Burwell |
|
| Colleen M. Carlston (United States) |
RBM10 |
| Concetta Fiore |
|
| Constantine A. Stratakis (United States) |
ARMC5, PRKAR1A |
| Coralie Michaud (Canada) |
RNU4ATAC, SMARCD1, OXR1, TRRAP, KAT5, GPAA1, PIGB, PIGC, PIGF, PIGK, PIGP, PIGS, FN1 GFND2, FN1-SMDCF, FN1, KAT8, PAX7, JARID2, MYOD1, ATP6V0C, UBR7, FIG4, VPS13D, GINS3, PIGH |
| Corinna Röver |
|
| Corrado Romano (Italy) |
ADGRB3 |
| Costanza Lamperti (Italy) |
ETHE1 |
| 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 |
| Daisy Rymen (Belgium) |
STT3A, CAMLG |
| Daniel Calame (United States) |
NSRP1 |
| Daniel Natera de Benito (Spain) |
|
| Daniel Natera de Benito (Spain) |
CHRNG |
| Danielle Bosch (Netherlands) |
NR2F1 |
| Dario Esposito (Italy) |
PRICKLE1 |
| Darius Ebrahimi-Fakhari (United States) |
AP4B1, AP4E1, AP4M1, AP4S1 |
| David Amor (Australia) |
IREB2 |
| David Koolen (Netherlands) |
KANSL1, YY1, MYT1L, CLTC, SRCAP |
| David Pellerin (Canada) |
FGF14 |
| David Hunt (United Kingdom) |
|
| David Sillence (Australia) |
PLOD3 |
| David Viskochil (United States) |
BCL11A |
| David J. Pagliarini (United States) |
NDUFAF8 |
| Davide Tonduti (Italy) |
|
| Davis Point |
|
| Davor Lessel (Germany) |
DHX30 |
| Dean Burrows |
|
| Debbie Jamieson-Budziak |
|
| Debbie Shears (United Kingdom) |
ZIC1 |
| Debopam Samanta (United States) |
GABBR2 |
| Deborah Frazer |
|
| Deepika Jain (India) |
NEUROG1 |
| Denise Armillotta |
|
| Dhanya Lakshmi Narayan (India) |
NEPRO |
| Diana Baralle (United Kingdom) |
TRIO, PURA, COPB1 |
| Diana Le Duc (Germany) |
WDFY3 |
| Dierk Niessing (Germany) |
PURA |
| Dilek Colak (Saudi Arabia) |
KCNA4, ISCA2 |
| Dilşad Türkdoğan (Turkey) |
DOCK7 |
| Dimitra Micha (Netherlands) |
KDELR2 |
| Dixit Sonchatra |
|
| Djolin Vers |
|
| Dolors Casellas-Vidal (Spain) |
SLC6A9 |
| Dominique Herve (France) |
LAMB1 Autosomal Dominant |
| Dominique Nieuwpoort |
|
| Dong Li (United States) |
SMARCA5 |
| Donna Martin (United States) |
ASXL3 |
| Dorien Baetens (Belgium) |
NR5A1 |
| Dorien Schepers (Belgium) |
SKI, SMAD3 |
| Dorothea Schulte (Germany) |
MEIS2 |
| Dulce Quelhas (Portugal) |
COG7 |
| Eamonn R Maher (United Kingdom) |
DIS3L2 |
| Edoardo Errichiello (Italy) |
|
| Edoardo Errichiello (Italy) |
ESAM |
| Edward Vernhout (Netherlands) |
|
| Elaine Fletcher (United Kingdom) |
|
| Eleanor Ludington (Australia) |
FBXW7 |
| Elena Parrini (Italy) |
LIS1 |
| Elfride De Baere (Belgium) |
NR5A1 |
| Eli Hatchwell (United Kingdom) |
NUBPL |
| Eliana Ganci |
|
| Éliane Beauregard-Lacroix (Canada) |
POLR3GL, UBR7, FIG4 |
| Elif Funda Sener (Turkey) |
CC2D1A |
| Elisa Bettella (Italy) |
TANC2 |
| Elisa Rahikkala (Finland) |
P4HTM |
| Elisa Calí (United Kingdom) |
PRMT7 |
| Elisabeth Bosch (Germany) |
CPE |
| Elisabeth Spaulding |
|
| Elise Brischoux Boucher (France) |
|
| Elisheva Goldberg |
|
| Elizabeth Bhoj (United States) |
TBCK, CSNK1G1 |
| Elizabeth Jacobs |
|
| Elke Krüger (Germany) |
PSMC3 |
| Elżbieta Radzikowska (Poland) |
FLCN |
| Emanuele Barca (United States) |
RMND1 |
| Emanuele Bartolini (Italy) |
CUL4B |
| Emily Banks (Canada) |
DENND5A |
| Emily Groopman (United States) |
KMT2E |
| Emily Rademeyer |
|
| Emma Palmer (Australia) |
CLCN4, PCDH19, IQSEC2, THOC2, ZSWIM6, PUM1, SCN2A, ATN1, KCNT2 |
| Emma Clement (United Kingdom) |
SMARCB1 |
| 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 Leenders (Netherlands) |
|
| Erika Fernandez-Vizarra (United Kingdom) |
APOPT1 |
| Erin McGinnis (United States) |
|
| Ernie Bongers (Netherlands) |
GMNN, TBX4 |
| Ernst Reichenberg (United States) |
ANKH |
| Esther Fryns (Germany) |
|
| Eszter Szabó (Hungary) |
DLD |
| Ethan Nicholas |
|
| Eun-Young Erin Ahn (United States) |
SON |
| Eva Morava-Kozicz |
PGM1, DPM2 |
| Eva van Walree (Netherlands) |
HEY2 |
| Eva Trevisson (Italy) |
COQ2 |
| Eva Denise Chisholm |
|
| Evan Eichler (United States) |
ADNP, CHD2, CHD8, DYRK1A, SETBP1 , KANSL1, CHR1Q21, POGZ |
| Everly Hammitt |
|
| Evi Andriessen (Netherlands) |
ANKRD11 |
| Fabio R. Faucz (United States) |
ARMC5, PRKAR1A |
| Fadie D. Altuame (United States) |
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, UFM1, UFC1, ARL6, CTU2, ANKLE2, IFT27, RIC1 |
| Fady Hannah-Shmouni (United States) |
ARMC5, PRKAR1A |
| Fanny Mochel (France) |
KCNN2 |
| Farhad Abbasi (Canada) |
BRPF1, ARV1, PIGT |
| Faria Ahmed (United States) |
|
| Federica De Barberi |
|
| Ferenc Orosz (Hungary) |
TPI1 |
| Fernanda Góes (Brazil) |
|
| Fernando Santos-Simarro (Spain) |
ZFHX4, CEP57, LIFR |
| Filippo Pinto e Vairo (United States) |
RBM28 |
| Filomena Napolitano (Italy) |
LAMA5 |
| Flavio Faletra (Italy) |
MED13 |
| Fleur Vansenne (Netherlands) |
|
| Florence Molinari (France) |
SLC25A22 |
| Florence Riccardi (France) |
MEF2C |
| Florian Kraft (Germany) |
C2orf69, COG6 |
| Floriana Secondulfo (Italy) |
BBS1 |
| 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, UFM1, UFC1, ARL6, ANKLE2, CTU2, IFT27, RIC1 |
| Francesca Venuleo |
|
| Francesca Fusco (Italy) |
IKBKG/NEMO |
| Francesco Marullo |
|
| Francesco Nicita (Italy) |
ATP1A1 |
| Francisco Bustos (United States) |
RLIM, USP27X |
| Francisco Cammarata-Scalisi (Chile) |
|
| Francisco Javier Teruel Saldaña |
|
| Frank Kooy (Belgium) |
ADNP, ZNF711 |
| Franziska Reschke (Germany) |
|
| Frédéric Ebstein (France) |
PSMC3 |
| Frederico Forneris (Italy) |
PLOD3 |
| Frederike L. Harms (Germany) |
PHF5A |
| Frenny Sheth |
LINS1, NEUROG1 |
| Gabrielle Lemire (Canada) |
KAT6B, THOC6 |
| Gaëtan Lesca (France) |
RORA |
| Gandham SriLakshmi Bhavani (India) |
EXOC6B |
| Gareth Evans (United Kingdom) |
NF2, LZTR1 |
| Gea Beunders (Netherlands) |
AUTS2 |
| Geeske van Woerden (Netherlands) |
CAMK2B, CAMK2A |
| Geoffey Woods (United Kingdom) |
SCN9A, SCN11A, PRDM12, NTRK1, NGF, CLTCL1, CCDC88A |
| Geoffroy DELPLANCQ (France) |
|
| Georgia Vasileiou (Germany) |
CPE |
| Georgia Vasileiou (Germany) |
|
| Ghayda Mirzaa (United States) |
AKT3, CCND2, MTOR, PIK3CA, PIK3R2 |
| Gholson Lyon (United States) |
|
| Gholson Lyon (United States) |
TAF1, NAA10, NAA15, ANKRD11 |
| Gianluca D'Onofrio (Italy) |
CNTNAP2, NAA20 |
| Gijs Santen (Netherlands) |
ARID1B, SMARCA4, ARID1A, ARID2 |
| Gina Coughlin |
|
| Gina Ravenscroft (Australia) |
ADGRG6 |
| Ginevra Zanni (Italy) |
ATP2B3 |
| Gioia Mastromoro (Italy) |
ASCC1 |
| Giorgia Mandrile (Italy) |
|
| Giovanni Iolascon (Italy) |
LAMA5 |
| Giuseppe Testa (Italy) |
YY1 |
| Gladys Matailo |
|
| Gorka Fernández-Eulate (France) |
BSCL2 |
| Grant Stewart (United Kingdom) |
SLF2, SMC5, RECQL1 |
| Gregory M. Cooper (United States) |
|
| Gudrun A. Rappold (Germany) |
SHOX2, SHANK1, SHANK2, SHANK3 |
| Gul Unsel Bolat (Turkey) |
TRAPPC9 |
| Hagit Baris Feldman (Israel) |
CD55 |
| Hakon Hakonarson (United States) |
MBTPS2 |
| Halil Tuna Akar (Turkey) |
COQ9, MAN1B1 |
| Han Brunner (Netherlands) |
PACS1 |
| Hanan E Shamseldin (Saudi Arabia) |
RTTN, UNC80, DDX59, MFF |
| Hannah Saturday |
|
| Hannah Vuong (Australia) |
|
| Hannelore Ehrenreich (Germany) |
TBR1 |
| Harsh Sheth (India) |
LINS1, NEUROG1 |
| Hazrat Ali Khan (Pakistan) |
LMAN2L |
| Heather Mefford (United States) |
CHR1Q21 |
| Heike Weigand (Germany) |
|
| Helen Stewart (United Kingdom) |
|
| Hélène Morel (France) |
LAMB1 Autosomal Dominant |
| Helly Patel |
|
| Hendrik Langen (Germany) |
|
| Heng Wang (United States) |
PEPD, VPS13B, TMCO1 |
| Henry Houlden (United Kingdom) |
CLN5, NFASC, NARS1 |
| Hilde Van Esch (Belgium) |
MECP2 duplication, LMNB1 |
| Hilmi Bolat (Turkey) |
TRAPPC9 |
| Hiroaki Murakami (Japan) |
CERT1 |
| Hirotomo Saitsu (Japan) |
RHOBTB2, SPTAN1 |
| Hitoshi Okazawa (Japan) |
PQBP1 |
| Ho-ming Luk (China) |
CTNNB1, DPH1 |
| Holger Lerche (Germany) |
KCNC1 |
| Homa Tajsharghi (Sweden) |
TOR1A, GAD1, MYH2 |
| Hormos Dafsari (Germany) |
PUF60, AP3B2, AP3D1 |
| Hsiao-Tuan Chao (United States) |
EBF3, EIF2AK2, EIF2AK1, PPFIA3 |
| Huda Zoghbi (United States) |
CIC |
| Hugo Bellen (United States) |
IRF2BPL, TIAM1 |
| I-ping Chen (United States) |
ANKH |
| Ianniello Ilaria |
|
| Ichizo Nishino (Japan) |
CHKB |
| Ilaria Parenti (Germany) |
CHD5 |
| Ilona Krey (Germany) |
GRIN1, GRIN2A, GRIN2B, GRIN2D |
| Imke van den Bogaard (Netherlands) |
|
| Inge Mathijssen (Netherlands) |
HEY2 |
| Inge Meijer (Canada) |
VPS13D |
| Ingo Borggräfe (Germany) |
CCDC186 |
| Ingrid Scheffer (Australia) |
PCDH19 |
| Ingrid M.B.H. van de Laar (Netherlands) |
ASNA1 |
| Ioannis Livanos (Cyprus) |
ANO10 |
| Irene Gregorini |
|
| Irene Mademont-Soler (Spain) |
SLC6A9 |
| Irene Valenzuela (Spain) |
ASXL3 |
| Irina Ivanova (Russian Federation) |
|
| Isabel Filges (Switzerland) |
CENPF, KIF4A |
| Isabelle Maystadt (Belgium) |
|
| Isabelle Oliver Petit (France) |
|
| Isabelle Duband-Goulet (France) |
TRIP4 |
| Isis Atallah (Switzerland) |
TPP2 |
| Ivan Fai-man Lo (China) |
CTNNB1, DPH1 |
| Ivano Di Meo (Italy) |
ETHE1 |
| J.G.J. Hoenderop (Netherlands) |
CNNM2, HNF1B |
| J.H.F. de Baaij (Netherlands) |
CNNM2, HNF1B |
| Jaak Jaeken (Belgium) |
COG7 |
| Jackie Boyle (Australia) |
IQSEC2, THOC2 |
| Jade England (Canada) |
FN1, FN1 GFND2, FN1-SMDCF |
| Jamal Ghoumid (France) |
CDH1, CTNND1 |
| James Hofmann |
|
| James R. Lupski (United States) |
CLP1, NSRP1 |
| Jan Maarten Cobben (United Kingdom) |
|
| Jane Hurst (United Kingdom) |
SRCAP FLHS |
| Janneke Schuurs-Hoeijmakers (Netherlands) |
PACS1 |
| Jannette Mailo (Canada) |
PTPN23 |
| Jason Tchieu (United States) |
ZMYND11 |
| Jaya George-Abraham (United States) |
|
| Jayesh Sheth (India) |
GM2A, LINS1, NEUROG1 |
| Jean-François Benoist (France) |
MMUT |
| Jean-Marc Good (Switzerland) |
CNOT2 |
| Jennifer Pianalto |
|
| Jennifer Gordon (United States) |
PURA |
| Jenny Higgs (United Kingdom) |
|
| Jerica Lenberg (United States) |
|
| Jeroen Ewals |
|
| Jessica Radley (United Kingdom) |
IQSEC2 |
| Jessie Dillon |
|
| Jhanvi Shah (India) |
NEUROG1 |
| Jihoon G. Yoon (Korea, Republic of) |
|
| Jill Rosenfeld (United States) |
|
| Jill Clayton-Smith (United Kingdom) |
CNKSR2 |
| Jimmy Lloyd Holder (United States) |
PUM1 |
| Jirko Kühnisch (Germany) |
PRDM16 |
| Joana Damásio (Portugal) |
ATP8A2 |
| Joanna Walczak-Sztulpa (Poland) |
WDR35 |
| João Moura (Portugal) |
ATP8A2 |
| João Moura (Portugal) |
|
| Jodi Roberts |
|
| Johanna C. Herkert (Netherlands) |
ALPK3 |
| Johannes Lemke (Germany) |
GRIN2A, GRIN2B, GRIN2D, GRIN1 |
| John Christodoulou (Australia) |
NRROS, NAXD, NAXE |
| John Novogurski |
|
| John Pappas (United States) |
PPP3CA |
| John Vincent (Canada) |
PTCHD1 |
| John Carey (United States) |
SON, RBM10 |
| John A Sayer (United Kingdom) |
ARL3 |
| John M. Graham Jr. (United States) |
KCNK9 |
| Jolijn Verseput (Netherlands) |
|
| Jonas Helbig (Germany) |
|
| Joohyun Park (Germany) |
SLC12A6, KCNC1 |
| Joost Rossen (Netherlands) |
|
| Joost Rossen |
|
| Jorge Román Corona Rivera (Mexico) |
EFNB1 |
| Jörn Oliver Sass (Germany) |
|
| Jos I.M. Egger (Netherlands) |
HNMT |
| Josephina Meester (Belgium) |
BGN |
| Joshi Stephen (United States) |
TMEM94, EIF2AK2, EIF2AK1 |
| Joshua Coronado |
|
| Jovana Kovacevic (Netherlands) |
STXBP1 |
| Jozef Gecz (Australia) |
PCDH19, THOC2, ZSWIM6 |
| Juan Carlos Aldave Becerra (Peru) |
|
| Judith M.A. Verhagen (Netherlands) |
ALPK3, ASNA1 |
| Judy Savige (Australia) |
|
| Julia Janssens (Netherlands) |
|
| Julia Janssens (Netherlands) |
|
| Julie Plaisancie (France) |
OTX2 |
| Juliette Piard (France) |
CDK10 |
| Jun Tohyama (Japan) |
SPTAN1 |
| Jung Woo Yu (Korea, Republic of) |
|
| Justyna Mordaka |
|
| Jutta Gärtner (Germany) |
RNASET2 |
| Kaitlin Staebler (United States) |
|
| Kara Kilroy |
|
| Karen Low (United Kingdom) |
ANKRD11 |
| Karen B. Avraham (Israel) |
ATOH1 |
| Karin Weiss (Israel) |
CHD4 |
| Katarzyna Przybylska (Poland) |
|
| Kate Baker (United Kingdom) |
SYT1, ZDHHC9 |
| Kate Tatton-Brown (United Kingdom) |
HIST1H1E, DNMT3A, NSD1, EZH2 |
| Katharina Steindl (Switzerland) |
|
| Katherine Anderson (United States) |
|
| Katherine Dempsey (United States) |
|
| Katherine Kim (United States) |
|
| Katherine Howell (Australia) |
SCN2A |
| Kathleen Gorman (United Kingdom) |
KMT2B |
| Katja von Au (Germany) |
|
| Katrin Watschinger (Austria) |
AGMO |
| Katrine M. Johannesen (Denmark) |
SLC6A1 |
| Katta Mohan Girisha (India) |
HHAT, EXOC6B, NEPRO |
| Kayla Horst |
|
| KayLee Parson |
|
| Keely Harding Flowers Mack (Belgium) |
ABAT |
| Keiichi Ozono (Japan) |
SEC24D |
| Keith W Caldecott (United Kingdom) |
TDP2 |
| Kelly Johnson |
|
| Kelly Schoch (United States) |
ASXL2, NACC1 |
| Kenji Kurosawa (Japan) |
CERT1 |
| Kentaro Hanada (Japan) |
CERT1 |
| Kenyata Jackson |
|
| Keren Machol (United States) |
SMARCC2 |
| Kerry Smith |
|
| Kerstin Kutsche (Germany) |
PHF5A |
| Ketan Patel (India) |
NEUROG1 |
| Ketan b |
|
| Kim Truijen (Netherlands) |
CHD8, CIC |
| Kim Aldinger (United States) |
|
| Kimberly Baker |
|
| Kiranam Chatti (India) |
AIMP2 |
| 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 |
| Kristian Tveten (Norway) |
ZBTB7A |
| Kristina Calli (Canada) |
POLR2A |
| Kristine King (United States) |
|
| Kristy Kolc (Australia) |
PCDH19 |
| Kryproula Christodoulou (Cyprus) |
ANO10 |
| Kuntal Sen (United States) |
TANGO2 |
| Kwame Anyane-Yeboa (United States) |
GNB1 |
| Lama AlAbdi (Saudi Arabia) |
MYCBP2 |
| Lara Menzies (United Kingdom) |
SRCAP FLHS |
| Larissa Mattern (Germany) |
|
| László Tretter (Hungary) |
DLD |
| Laura Benvenuto |
|
| Laura Bernardini (Italy) |
ASCC1 |
| Laura Trujillano (Spain) |
|
| Laura J Powell (United Kingdom) |
ARL3 |
| Laurence Faivre (France) |
UNC45A |
| Laurent Villard (France) |
BCAP31 |
| Laurent Pasquier (France) |
RORA |
| Lavinia Pessina |
|
| Leigh A.M. Demain (United Kingdom) |
CLPP, ERAL1, LARS2, HARS2 |
| Lennart Slagter (Netherlands) |
PPP2CA, PPM1D |
| Letty Threatt |
|
| Lex Dingemans (Netherlands) |
ARID1B, CHD8, TRIO, PHIP, KANSL1, WAC, YY1, PPM1D, DEAF1, DEAF1 autosomal dominant, DEAF1 autosomal recessive, CDK13, EHMT1, DDX3X, SPOP LoF, KDM3B, Deletion 22q11, DNMT3A gain of function, PHF5A |
| Liah Huemer |
|
| Licia Lugli (Italy) |
COG6 |
| Lil Klaas (Germany) |
|
| Lionel van Maldergem (France) |
CDK10 |
| Lisa Cameron |
|
| Lisa Doherty |
|
| Lisa Pivanato (Switzerland) |
|
| Lisa Ewans (Australia) |
PLOD3 |
| Lisenka Vissers (Netherlands) |
TRIO, WAC, PPM1D, DEAF1, DEAF1 autosomal recessive, DEAF1 autosomal dominant, PPP2CA, SON, SPOP LoF, FBXO11 |
| Livia Garavelli (Italy) |
B4GALT7 |
| Loren Pena (United States) |
IRF2BPL, ASXL2 |
| Lorenzo Ciapparelli (Italy) |
|
| Lorrette Theisen |
|
| Luca Cariello |
|
| Lucinda Murray (Australia) |
ZSWIM6 |
| Ludovica Visconti |
|
| Lukáš Ryba (Czech Republic) |
KCNN3 |
| Lusine Harutyunyan (Belgium) |
ADNP |
| Lynette Sadleir (New Zealand) |
PCDH19 |
| Lynn Pais (United States) |
KMT2E |
| M.J.V. Hoffer (Netherlands) |
ATP1A2, CACNA1A |
| Maarten Lequin (Netherlands) |
EML1 |
| Machteld Oud (Netherlands) |
POC5 |
| Madeline Chadehumbe (United States) |
|
| Magnus Nordjenskjold (Sweden) |
|
| Maha A. Faden (Saudi Arabia) |
RSPRY1 |
| Maitreyi Shrikhande (United States) |
|
| Majid Alfadhel (Saudi Arabia) |
EMC10, KIF16B, RAP1GDS1 |
| Mala Misra-Isrie (Netherlands) |
STXBP1 |
| Malavika Hebbar (Canada) |
YWHAG |
| Mandy HY Tsang (Hong Kong) |
CTNNB1 |
| Manju Kurian (United Kingdom) |
KMT2B |
| Manon Suerink (Netherlands) |
|
| Manuel Bißle (Germany) |
|
| Marcelle Volbeda |
|
| Marcello Scala (Italy) |
PRMT7 |
| Marcia Rodrigues (Portugal) |
|
| Marco Fichera (Italy) |
ADGRB3 |
| Marco Henneke (Germany) |
RNASET2 |
| Marelise Eekhoff (Netherlands) |
KDELR2 |
| Margaret Au (United States) |
|
| Margaret Wiley (United States) |
|
| Margje Sinnema (Netherlands) |
AHDC1 |
| Margot Reijnders (Netherlands) |
PURA |
| Margot A. Cousin (United States) |
KCNK9 |
| Mari Tokita (United States) |
ACTL6A |
| Maria Chahrour (United States) |
KDM5A |
| Maria Grazia Giuffrida (Italy) |
ASCC1 |
| Maria Nabais Sá (Netherlands) |
DEAF1 autosomal dominant, DEAF1 autosomal recessive, DEAF1, SPOP LoF, SPOP, SPOP GoF |
| Maria Carla Borroto (Canada) |
RAB11A, MSL2, KDM5B, KDM5B dominant, KDM5B recessive, ERI1, ERI1 Guo-Campeau type, ERI1 Hoxha-Aliu syndrome |
| Maria J. Guillen Sacoto (United States) |
MORC2, MEIS2 |
| Maria Luisa Valentin |
|
| María Palomares Bralo (Spain) |
ZFHX4, CEP57 |
| Mariana Santos (Portugal) |
ATP8A2 |
| Mariella Gentile |
|
| Mariëlle Alders (Netherlands) |
|
| Mariet Elting (Netherlands) |
KDELR2 |
| Marina Melone (Italy) |
LAMA5 |
| Marinda du Toit |
|
| Mario Mastrangelo (Italy) |
PRICKLE1 |
| Marja Hietala (Finland) |
|
| Marjolein Willemsen (Netherlands) |
POGZ |
| Mark Corbett (Australia) |
|
| Mark Durham (United States) |
CIC |
| Markéta Havlovicová (Czech Republic) |
KCNN3 |
| Marketa Wayhelova (Czech Republic) |
GNAI1 |
| Marta Pacio Miguez (Spain) |
CEP57 |
| Martin Breuss (United States) |
HEATR5B |
| Martin Schwarz (Czech Republic) |
KCNN3 |
| Martina Seidl (Germany) |
|
| Martine Cools (Belgium) |
NR5A1 |
| Marvin Braun (United States) |
|
| Marwan Shinawi (United States) |
|
| Marzia Pollazzon (Italy) |
B4GALT7 |
| Massimo Zeviani (United Kingdom) |
APOPT1 |
| Mathijs van Kilsdonk (Netherlands) |
|
| Matias Wagner (Germany) |
CCDC186, MSL3 |
| Matilde Valeria Ursini (Italy) |
IKBKG/NEMO |
| Matt C Danzi (United States) |
FGF14 |
| Matthew Deardorff (United States) |
WDR26, KCNK9, SMARCA5 |
| Matthew Green |
|
| Matthew Overholtzer |
|
| Matthew Wilson (Belgium) |
STT3A, CAMLG |
| Matthew B. Neu (United States) |
|
| Matthew RG Taylor (United States) |
LAMP2 |
| Matthew, Hunter (Australia) |
|
| Matthias Kettwig (Germany) |
RNASET2 |
| Matthijs Verhage (Netherlands) |
STXBP1 |
| Maude Grelet (France) |
|
| Maurizio Taglialatela (Italy) |
KCNQ2, KCNQ3 |
| Mauro Lecca (Italy) |
ESAM |
| Mauro Longoni (United States) |
LRP2 |
| Max Fillmore |
|
| Maxi Leona Wiese (Germany) |
AP3B2, AP3D1 |
| Maya Chopra (United States) |
ANKRD17 |
| Maysoon Alsagob (Saudi Arabia) |
KCNA4, ISCA2 |
| Mazhor S. Aldosary (Saudi Arabia) |
ISCA2 |
| Meagan Collins (Canada) |
FRMPD4 |
| Megan Rech (United States) |
MAGEL2 |
| Melanie Brugger (Germany) |
CCDC186 |
| Melissa Daddio |
|
| 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 Kircher |
|
| Michael Marble (United States) |
PPP1CB |
| Michael Zech (Germany) |
|
| 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, GLRA2 |
| Michel Verb (Netherlands) |
|
| Michel Verbruggen (Netherlands) |
|
| Michel Koenig (France) |
RORA |
| Michele Gabriele (Italy) |
YY1 |
| Michelle Demos (Canada) |
YWHAG |
| Mieke van Haelst (Netherlands) |
STXBP1 |
| Mike Friez (United States) |
MED12 |
| Minoo Rassoulzadegan (France) |
CC2D1A |
| Mireille Gomes (Brazil) |
|
| Miriam Elbracht (Germany) |
C2orf69, COG6 |
| Miriam Zacchia (Italy) |
BBS1 |
| Miriam J Smith (United Kingdom) |
NF2, LZTR1 |
| Mitsuhiro Kato (Japan) |
RHOBTB2 |
| Mo Almannai (Saudi Arabia) |
METTL23 |
| Mohamed Al-Owain (Saudi Arabia) |
KCNA4 |
| Mohammed Almannai (Saudi Arabia) |
|
| Mohammed Faruq (India) |
KIF5A, NPR2 |
| Mohnish Suri (United Kingdom) |
AP1B1 |
| Mollie Hanson |
|
| Moritz Paha (Germany) |
|
| Mosheh Frydman (Israel) |
|
| Muhammad Umair (Saudi Arabia) |
EMC10, KIF16B, RAP1GDS1 |
| Muhammad Ismail Khan (Pakistan) |
CC2D2A |
| Muriel Botti |
|
| Musharraf Jelani (Pakistan) |
CC2D2A |
| Myriam Srour (Canada) |
SLC45A1 |
| Nadieh Jansen (Netherlands) |
|
| Namik Kaya (Saudi Arabia) |
KCNA4, ISCA2 |
| Nan Koops (Netherlands) |
|
| Naomi Baba (Germany) |
|
| Natalie Gill |
|
| Nataliya Di Donato (Germany) |
CRADD |
| Nathalie van der Aa (Belgium) |
|
| Neerja Gupta (India) |
AIMP2 |
| Nehemiah Ward (United States) |
|
| Nic Gregory |
|
| Nicholas Bustamante |
|
| Nicolas Chassaing (France) |
OTX2 |
| Nicole Hanson |
|
| Nicole van Bergen (Australia) |
NAXD, NAXE |
| Nicole Wing |
|
| Nina Hill |
|
| Nina B. Gold (United States) |
CSNK1G1 |
| Nisha Patel (Saudi Arabia) |
ASPH, GZF1 |
| Nitika Langeh (India) |
|
| Nolan Papagiacumos |
|
| Noortje Ottenheijm-Zelis |
|
| Noraly Jonis (Netherlands) |
|
| Noraly Jonis (Netherlands) |
|
| Nuria Brämswig (Germany) |
TRIP12, ARID2 |
| Nurten Akarsu (Turkey) |
ELMO2, ALX1 |
| Olaf Bodamer (United States) |
TBR1 |
| Oliver Gordon |
|
| Pablo Iruzubieta (Spain) |
FGF14 |
| Patricia Hecht |
|
| Patsy De Jong |
|
| Paul Lapidus |
|
| Paul C. Marcogliese (United States) |
IRF2BPL |
| Pauline MONIN (France) |
|
| Pawel Stankiewicz (United States) |
BPTF, PSMD12 |
| Peggy S. Eis (United States) |
NUBPL |
| Peter Bross (Denmark) |
HSPD1 |
| Peter Krawitz (Germany) |
PGAP1, PIGA, PIGG, PIGL, PIGM, PIGN, PIGQ, PIGW, PIGY |
| Peter McPherson (Canada) |
DENND5A |
| Peter Turnpenny (United Kingdom) |
PCGF2 |
| Petr Kuglik (Czech Republic) |
GNAI1 |
| Petra Zwijnenburg (Netherlands) |
HNRNPK |
| Philip Jensik (United States) |
DEAF1, DEAF1 autosomal recessive, DEAF1 autosomal dominant, SPOP LoF |
| Philippe Campeau (Canada) |
NCOR2, TBC1D24, SMARCC2, CHD3, POLR3GL, ACTL6B dominant, ACTL6B recessive, ACTL6B, RNU4ATAC, SMARCD1, OXR1, TRRAP, KAT5, PGAP1, PIGA, PIGG, PIGL, PIGM, PIGN, PIGQ, PIGW, PIGY, KAT6B, GPAA1, PIGB, PIGC, PIGF, PIGK, PIGP, PIGS, FN1 GFND2, FN1-SMDCF, FN1, KAT8, PAX7, JARID2, MYOD1, ATP6V0C, UBR7, FIG4, VPS13D, GINS3, PIGH, C18orf32, BRPF1, ARV1, PIGT, PIGV, FRMPD4, RAB11A, MSL2, KDM5B, KDM5B dominant, KDM5B recessive, KCNB2, ERI1, ERI1 Guo-Campeau type, ERI1 Hoxha-Aliu syndrome |
| Philippe Kerschen (Luxembourg) |
|
| Phillip Pearl (United States) |
ABAT |
| Pietro Farinelli (Denmark) |
CEP78 |
| Pilar Caro (Germany) |
USP7, PRKAR1B |
| Prince Jacob (India) |
HOXA1 |
| Pu Dai (China) |
ATP6V1B2 |
| Queenie K-G Tan (United States) |
FOXP3 |
| R.C. Heesakkers (Netherlands) |
|
| Rachel Horne |
|
| Rachel Rabin (United States) |
|
| Rachel Wurth (United States) |
ARMC5, PRKAR1A |
| Rafael Moraga Muñoz |
|
| Rafael Artuch (Spain) |
UROC1 |
| Rafiullah Rafiullah (Saudi Arabia) |
LMAN2L |
| Raghu R Prajapati (India) |
DYRK1A, TBCK, ANKRD11, NSD1, C12orf57, DDX59, DCAF17, MYT1L |
| 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 Radermacher |
|
| Rebecca Macintosh (Australia) |
KCNT2 |
| Rebecca Sayer (United Kingdom) |
CNKSR2 |
| Reese Lamonda |
|
| Regina M. Zambrano (United States) |
PPP1CB |
| Renske Oegema (Netherlands) |
EML1 |
| Renzo Guerrini (Italy) |
LIS1 |
| Reza Asadollahi (United Kingdom) |
MED13L |
| Reza Maroofian (United Kingdom) |
PRMT7 |
| Rich Steet (United States) |
LMNB1 |
| Richard van Jaarsveld (Netherlands) |
|
| Richard Delorme (France) |
SHANK1, SHANK2, SHANK3 |
| Rikard Blunck (Canada) |
KCNB2 |
| Rima Nabbout (France) |
KCNB1 |
| Rita Barone (Italy) |
CELF4 |
| Robert McFarland (United Kingdom) |
NDUFA6, NDUFAF8, TMEM126B |
| Robert W Taylor (United Kingdom) |
NDUFA6, NDUFAF8, TMEM126B |
| Rochelle Hines (United States) |
|
| Rocío Nur Villar Quiles (France) |
TRIP4 |
| Rocío Carolina Cortés-Pastranaa (Mexico) |
EFNB1 |
| Rolph Pfundt (Netherlands) |
ANKRD11 |
| Ron A. Wevers (Netherlands) |
SUCLA2 |
| Ronit Marom (United States) |
ACTL6A, GLRA2 |
| Rosanna Putorti |
|
| Roser Urreizti (Spain) |
UROC1, TRAF7 |
| Rui Chen (United States) |
CWC27 |
| Ruifang Sui (China) |
CWC27 |
| Ruth Dixon |
|
| Saadet Mercimek-Andrews (Canada) |
PPP3CA |
| 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) |
PPP2CA, FBXO11 |
| Sandra Whalen (France) |
BCAP31 |
| Sandra Hoffmann (Germany) |
SHOX2 |
| Sandra Mercier (France) |
CAMK2A, CAMK2B, FAM111B |
| Sanjay Sisodiya (United Kingdom) |
TBC1D24 |
| Sarah Coffey |
|
| Sarah Crouch |
|
| Sarah Weckhuysen (Belgium) |
KCNQ2, KCNQ3, GAD1 |
| 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 |
| Scott Hickey (United States) |
|
| Sébastien Küry (France) |
CAMK2A, CAMK2B, PSMD12, FAM111B, RORA, TRRAP, PSMC3 |
| Sérgio D.J. Pena (Brazil) |
STAG2 |
| Servi JC Stevens (Netherlands) |
ZNF148, SET |
| Seth Berger (United States) |
|
| Seth Reisdorff |
|
| Sevil Dorum (Turkey) |
MAN1B1 |
| Shagun Aggarwal (India) |
HERC1 |
| Shahid I ajmeri (India) |
PHIP |
| Sheela Nampoothiri (India) |
GM2A |
| Sheetal Sharda (India) |
|
| Shelin Adam (Canada) |
YWHAG |
| Shenzhao Lu (United States) |
TIAM1 |
| Shinji Takeyari (Japan) |
SEC24D |
| Shirley Sze-Wing Cheng (China) |
DPH1 |
| Shital Tester (India) |
AHDC1, ADAT3 |
| Shreyas Bhat (Canada) |
KCNB2 |
| Shruti Pande (India) |
HHAT |
| Shubha R Phadke (India) |
CHST3, NFIX, SNX14, DVL1, ROR2, ARMC9 |
| Siddharth Srivastava (United States) |
HIVEP2, BRAT1 |
| Silke Redler (Germany) |
QRICH1 |
| Silvestre CUINAT (France) |
|
| Silvestre Cuinat (France) |
SRRM2 |
| Silvia Maitz (Switzerland) |
|
| Silvia Radenkovic (United States) |
PGM1, DPM2 |
| Simon Haikola |
|
| Simon Fisher (Netherlands) |
FOXP2 |
| Simona Tassone |
|
| Simone Race (Canada) |
CLDN11 |
| Simone Berkel (Germany) |
SHANK1, SHANK2, SHANK3 |
| Simone Sampaolo (Italy) |
LAMA5 |
| Sixto García-Miñaúr (Spain) |
ZFHX4 |
| SJ Patil (India) |
HOXA1 |
| Smrithi Raghuram Salian (Canada) |
C18orf32 |
| Sofia Barbosa-Gouveia (Spain) |
EARS2, FOXRED1, AGK |
| Sofia Douzgou Houge (Norway) |
|
| 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 |
| Sophia Ingle |
|
| Sophie Javerzat (France) |
DCT |
| Sophie Nambot (France) |
TBR1 |
| Stacy DeNoyior |
|
| Stacy Goto |
|
| Stefan Barakat (Netherlands) |
|
| Stefan Wolking (Germany) |
KCNC2 |
| Stefan Arold (Saudi Arabia) |
ATN1 |
| Stefanie Brock (Belgium) |
TUBB2A |
| Stefano D'Arrigo (Italy) |
TELO2 |
| Stefano Giuseppe Caraffi (Italy) |
B4GALT7 |
| Stephan Zuchner (United States) |
FGF14 |
| Stéphane Bézieau (France) |
PSMC3 |
| Stephanie Efthymiou (United Kingdom) |
CLN5, NFASC, NARS1 |
| Stephanie Ho (China) |
CTNNB1 |
| Stephanie Ho (China) |
|
| Stephanie Bielas (United States) |
ASXL3 |
| Steve Twigg (United Kingdom) |
ZIC1 |
| Steven C. Greenway (Canada) |
DNAJC19 |
| Sue White (Australia) |
NRROS, DDB1 |
| Susan Baserga (United States) |
RBM28 |
| Susan Hayflick (United States) |
WDR45, PANK2, PLA2G6 |
| Susan Szeremeta |
|
| Susan M. Hiatt (United States) |
|
| Susanne Boettcher (Germany) |
|
| Susanne Roosing (Netherlands) |
CEP120 |
| Suzanne Lewis (Canada) |
POLR2A |
| Swati Singh |
EXOC6B |
| Sydney Schulz (Canada) |
POLR2A |
| Sylvia Sims |
|
| Sylvia Stockler (Canada) |
CLDN11 |
| Sylvie Manouvrier (France) |
CDH1, CTNND1 |
| Sylvie Odent (France) |
GLI2, SHH |
| Tamar Ben-Yosef (Israel) |
SCAPER |
| Tammi Noel |
|
| Tarik Duzenli (Turkey) |
|
| Taroh Kinoshita (Japan) |
PGAP1, PIGA, PIGG, PIGL, PIGM, PIGN, PIGQ, PIGW, PIGY |
| Tatjana Scheel (Germany) |
|
| Teresa Esposito (Italy) |
LAMA5 |
| Theodore Ryan |
|
| Theresa Brunet (Germany) |
MSL3 |
| Theresia Herget (Germany) |
|
| Thibaud Queyrel (France) |
|
| Thomas Besnard (France) |
LSS |
| Thomas Bourgeron (France) |
SHANK1, SHANK2, SHANK3 |
| Thomas Carpenter (United States) |
ANKH |
| Thomas Juergen Failer |
|
| Timothy C Cox (United States) |
AMOTL1 |
| Tiong Yang Tan (Australia) |
BMP2, RAC3, ADARB1, FBXW7 |
| Tobias B. Haack (Germany) |
SLC12A6, KCNC1 |
| Tony Pechek |
|
| Tony Roscioli (Australia) |
PLOD3 |
| Toshiyuki Yamamoto (Japan) |
WASF1 |
| Tracy Dudding-Byth (Australia) |
IQSEC2 |
| Tugce B. Balci (Canada) |
|
| Ulrike Steuerwald (Faroe Islands) |
SUCLA2 |
| Uzziah Yniguez |
|
| Valentin Schriever (Germany) |
|
| Valentin Ruault (France) |
RAC3 |
| Valentina De Agostini |
|
| Valentina Serpieri (Italy) |
CEP120 |
| Valeria Capra (Italy) |
THOC6 |
| Valeria Tiranti (Italy) |
ETHE1 |
| 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, SOX5 |
| Veronique Leroux |
|
| Victoria Paul (Germany) |
|
| Vincenzo Leuzzi (Italy) |
PRICKLE1 |
| Vincenzo Alessandro Gennarino (United States) |
PUM1, CERT1 |
| Viola Roggenkamp (Germany) |
|
| Viorica Chelban (United Kingdom) |
NKX6-2 |
| Virginia Kimonis (United States) |
NUBPL |
| Vyne van der Schoot (Netherlands) |
ZBTB18 |
| Weimin Bi (United States) |
PPP3CA, PRR12 |
| Wendy Chung (United States) |
AGMO, TIAM1 |
| Willem M.A. Verhoeven (Netherlands) |
HNMT |
| William Macken (United Kingdom) |
COPB1 |
| William Newman (United Kingdom) |
|
| William G. Newman (United Kingdom) |
CLPP, ERAL1, LARS2, HARS2, HPSE2, LRIG2, TXNL4A, PRORP |
| Wissam Deeb (United States) |
|
| 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 |
| Yuwei Dai (China) |
|
| Yvonne Weber (Germany) |
KCNC2 |
| Zachary Shorts |
|
| Zippora Brownstein (Israel) |
ATOH1 |
| Zuhair AlHassnan (Saudi Arabia) |
ISCA2 |
