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 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
Admin Radboudumc (Netherlands)
Adolfo Lopez de Munain (Spain) BSCL2
Adriana Albeanu (Romania)
Agusti Rodriguez-Palmero (Spain) SHMT2, PI4KA, DEGS1, KCNA1
Ahmed Alfares (Saudi Arabia) EMC10, KIF16B, RAP1GDS1
Alanna Strong (United States)
Albandary AlBakheet (Saudi Arabia) KCNA4
Alberto Berardi (Italy) COG6
Aleksandra Jezela-Stanek (Poland) FLCN, SERPINA1, PIGV
Alessandra Murgia (Italy) TANC2
Alessandra Maugeri (Netherlands) KDELR2
Alessia Indrieri (Italy) COX7B, NDUFB11
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, GRIA1/GRIA2/GRIA3/GRIA4
Allisa Rivara (United States)
Allison Gregory (United States) WDR45
Álvaro Hermida Ameijeiras (Spain) EARS2, FOXRED1, AGK
Alyssa Ritter (United States) NKAP, ARCN1
Amaia Lasa (Spain)
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
Andrea Gangfuß (Germany) MEIS2
Andrea Meredith (United States)
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
Aneal Khan (Canada) DNAJC19
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, 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 Kolesnik-Taylor (United Kingdom) SYT1, ZDHHC9
Anna Mª Cueto-González (Spain)
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
Anneke Vulto-van Silfhout (Netherlands)
Antonio Pizzuti (Italy) ASCC1
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
Asburce Olgac (Turkey) COQ9, MAN1B1
Ashley Pamela Lesle Marsh (Australia) DCC
Ashwin Dalal (India) HERC1, ARMC9
Asude Durmaz (Turkey)
Attila Ambrus (Hungary) DLD
Aurora Pujol (Spain) SHMT2, PI4KA, DEGS1, KCNA1, BSCL2
Baozhong Xin (United States) PEPD, VPS13B, TMCO1
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
Becky Spillmann (United States) IRF2BPL
Benjamin Cogné (France) TRRAP
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
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, NDUFB11
Brunhilde Wirth (Germany) PIEZO2
Bruno Reversade (Singapore) UGDH
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)
Caroline Racine (France) UNC45A
Catarina M. Quinzii (United States) COQ2
Catia Mio (Italy) MED13
Cécile Rouzier (France) NDUFS6, SUCLG1
Cedric le Caignec (France) SOX6
Chaitnya Datar (India) GM2A
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 Pantaleoni (Italy) TELO2
Chiara Terracciano (Italy) LAMA5
Chris Richmond (Australia) CA8
Chris Gordon (France) MN1, ANKRD17
Christel Depienne (Germany) HCN1, KCNN2, CHD5
Christèle Dubourg (France) GLI2, SHH
Christian Peña-Padilla (Mexico) EFNB1
Christian Schaaf (United States) NR2F1, MAGEL2, USP7
Christian A. Hübner (Germany) GMPPA
Christina Votsi (Cyprus) ANO10
Christopher Mak (Hong Kong) MN1
Claire Barton (United States)
Clara Velmans (Germany)
Claudia Ciaccio (Italy) TELO2
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) 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
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
Davor Lessel (Germany) DHX30
Debbie Shears (United Kingdom) ZIC1
Debopam Samanta (United States) GABBR2
Deepika Jain (India) NEUROG1
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
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
Dulce Quelhas (Portugal) COG7
Eamonn R Maher (United Kingdom) DIS3L2
Edoardo Errichiello (Italy)
Edoardo Errichiello (Italy) ESAM
Edward Vernhout (Netherlands)
Elaine Fletcher (United Kingdom)
Elena Parrini (Italy) LIS1
Elfride De Baere (Belgium) NR5A1
Eli Hatchwell (United Kingdom) NUBPL
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
Elise Brischoux Boucher (France)
Elizabeth Bhoj (United States) TBCK, CSNK1G1
Elżbieta Radzikowska (Poland) FLCN
Emanuele Bartolini (Italy) CUL4B
Emily Banks (Canada) DENND5A
Emma Clement (United Kingdom) SMARCB1
Emma Palmer (Australia) CLCN4, PCDH19, IQSEC2, 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 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
Eun-Young Erin Ahn (United States) SON
Eva Morava-Kozicz PGM1, DPM2
Eva van Walree (Netherlands) HEY2
Eva Trevisson (Italy) COQ2
Evan Eichler (United States) ADNP, CHD2, CHD8, DYRK1A, SETBP1 , KANSL1, CHR1Q21, POGZ
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
Fady Hannah-Shmouni (United States) ARMC5, PRKAR1A
Fanny Mochel (France) KCNN2
Farhad Abbasi (Canada) BRPF1, ARV1, PIGT
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
Francesca Fusco (Italy) IKBKG/NEMO
Francesco Nicita (Italy) ATP1A1
Frank Kooy (Belgium) ADNP, ZNF711
Franziska Reschke (Germany)
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
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
Gijs Santen (Netherlands) ARID1B, SMARCA4, ARID1A, ARID2
Gina Ravenscroft (Australia) ADGRG6
Ginevra Zanni (Italy) ATP2B3
Gioia Mastromoro (Italy) ASCC1
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
Hakon Hakonarson (United States)
Halil Tuna Akar (Turkey) COQ9, MAN1B1
Han Brunner (Netherlands) PACS1
Hanan E Shamseldin (Saudi Arabia) RTTN, UNC80, DDX59, MFF
Hannah Vuong (Australia) FBXW7, ADARB1
Hannelore Ehrenreich (Germany) TBR1
Harsh Sheth (India) LINS1, NEUROG1
Hazrat Ali Khan (Pakistan) LMAN2L
Heather Mefford (United States) CHR1Q21
Heike Weigand (Germany)
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
Hiroaki Murakami (Japan) CERT1
Hirotomo Saitsu (Japan) RHOBTB2
Hitoshi Okazawa (Japan) PQBP1
Ho-ming Luk (China) CTNNB1, DPH1
Hormos Dafsari (Germany) PUF60, AP3B2, AP3D1
Hsiao-Tuan Chao (United States) EBF3, EIF2AK2, EIF2AK1
Huda Zoghbi (United States) CIC
Hugo Bellen (United States) IRF2BPL
I-ping Chen (United States) ANKH
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 Mademont-Soler (Spain) SLC6A9
Irene Valenzuela (Spain) ASXL3
Irina Ivanova (Russian Federation)
Isabelle Maystadt (Belgium)
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 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
Jennifer Gordon (United States) PURA
Jenny Higgs (United Kingdom)
Jerica Lenberg (United States)
Jeroen Ewals
Jessica Radley (United Kingdom) IQSEC2
Jhanvi Shah (India) NEUROG1
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)
Johanna C. Herkert (Netherlands) ALPK3
Johannes Lemke (Germany) GRIN2A, GRIN2B, GRIN2D, GRIN1
John Christodoulou (Australia) NRROS
John Pappas (United States) PPP3CA
John Carey (United States) SON, RBM10
John A Sayer (United Kingdom) ARL3
John M. Graham Jr. (United States) KCNK9
Jolijn Verseput (Netherlands)
Joohyun Park (Germany) SLC12A6
Jorge Román Corona Rivera (Mexico) EFNB1
Jos I.M. Egger (Netherlands) HNMT
Josephina Meester (Belgium) BGN
Joshi Stephen (United States) TMEM94, EIF2AK2, EIF2AK1
Jovana Kovacevic (Netherlands) STXBP1
Jozef Gecz (Australia) PCDH19, THOC2, ZSWIM6
Juan Carlos Aldave Becerra (Peru)
Judith M.A. Verhagen (Netherlands) ALPK3, ASNA1
Julie Plaisancie (France) OTX2
Juliette Piard (France) CDK10
Jutta Gärtner (Germany) RNASET2
Karen Low (United Kingdom) ANKRD11
Karen B. Avraham (Israel) ATOH1
Karin Weiss (Israel) CHD4
Kate Baker (United Kingdom) SYT1, ZDHHC9
Kate Tatton-Brown (United Kingdom) HIST1H1E, DNMT3A, NSD1, EZH2
Katharina Steindl (Switzerland)
Katherine Anderson (United States)
Katherine Howell (Australia) SCN2A
Kathleen Gorman (United Kingdom) KMT2B
Katja von Au (Germany)
Katta Mohan Girisha (India) HHAT, EXOC6B, NEPRO
Keiichi Ozono (Japan) SEC24D
Kelly Schoch (United States) ASXL2, NACC1
Kenji Kurosawa (Japan) CERT1
Kentaro Hanada (Japan) CERT1
Keren Machol (United States) SMARCC2
Kerstin Kutsche (Germany) PHF5A
Ketan Patel (India) NEUROG1
Ketan b
Kim Truijen (Netherlands) CHD8, CIC
Kim Aldinger (United States)
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
Kristine King (United States)
Kristy Kolc (Australia) PCDH19
Kryproula Christodoulou (Cyprus) ANO10
Kuntal Sen (United States) TANGO2
Kwame Anyane-Yeboa (United States) GNB1
Lara Menzies (United Kingdom) SRCAP FLHS
Larissa Mattern (Germany)
László Tretter (Hungary) DLD
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
Leigh A.M. Demain (United Kingdom) CLPP, ERAL1, LARS2, HARS2
Lennart Slagter (Netherlands) PPP2CA, PPM1D
Lex Dingemans (Netherlands) ADNP, 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
Licia Lugli (Italy) COG6
Lionel van Maldergem (France) CDK10
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
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
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)
Marcello Scala (Italy) PRMT7
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 Grazia Giuffrida (Italy) ASCC1
Maria Nabais Sá (Netherlands) DEAF1 autosomal dominant, DEAF1 autosomal recessive, DEAF1, SPOP LoF, SPOP, SPOP GoF
Maria J. Guillen Sacoto (United States) MORC2, MEIS2
María Palomares Bralo (Spain) ZFHX4, CEP57
Mariana Santos (Portugal) ATP8A2
Mariëlle Alders (Netherlands)
Mariet Elting (Netherlands) KDELR2
Marina Melone (Italy) LAMA5
Mario Mastrangelo (Italy) PRICKLE1
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 Wilson (Belgium) STT3A, CAMLG
Matthew Deardorff (United States) WDR26, KCNK9
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
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
Mehul Kumar (India)
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 Marble (United States) PPP1CB
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 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
Moritz Paha (Germany)
Mosheh Frydman (Israel)
Muhammad Umair (Saudi Arabia) EMC10, KIF16B, RAP1GDS1
Muhammad Ismail Khan (Pakistan) CC2D2A
Musharraf Jelani (Pakistan) CC2D2A
Myriam Srour (Canada) SLC45A1
Nadieh Jansen (Netherlands)
Namik Kaya (Saudi Arabia) KCNA4, ISCA2
Nan Koops (Netherlands)
Naomi Baba (Germany)
Nataliya Di Donato (Germany) CRADD
Nathalie van der Aa (Belgium)
Neerja Gupta (India) AIMP2
Nicolas Chassaing (France) OTX2
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
Pablo Iruzubieta (Spain) FGF14
Paul C. Marcogliese (United States) IRF2BPL
Pawel Stankiewicz (United States) BPTF, PSMD12
Peggy S. Eis (United States) NUBPL
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
Philippe Kerschen (Luxembourg)
Phillip Pearl (United States) ABAT
Pietro Farinelli (Denmark) CEP78
Pilar Caro (Germany) USP7
Prince Jacob (India) HOXA1
Pu Dai (China) ATP6V1B2
Queenie K-G Tan (United States) FOXP3
R.C. Heesakkers (Netherlands)
Rachel Wurth (United States) ARMC5, PRKAR1A
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 Macintosh (Australia) KCNT2
Rebecca Sayer (United Kingdom) CNKSR2
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
Rima Nabbout (France) KCNB1
Robert McFarland (United Kingdom) NDUFA6, NDUFAF8, TMEM126B
Robert W Taylor (United Kingdom) NDUFA6, NDUFAF8, TMEM126B
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
Roser Urreizti (Spain) UROC1, TRAF7
Rui Chen (United States) CWC27
Ruifang Sui (China) CWC27
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) 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, SET
Sevil Dorum (Turkey) MAN1B1
Shagun Aggarwal (India) HERC1
Shahid I ajmeri (India) PHIP
Sheela Nampoothiri (India) GM2A
Shelin Adam (Canada) YWHAG
Shinji Takeyari (Japan) SEC24D
Shirley Sze-Wing Cheng (China) DPH1
Shital Tester (India) AHDC1, ADAT3
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) SRRM2
Silvia Radenkovic (United States) PGM1, DPM2
Simon Fisher (Netherlands) FOXP2
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
Sophie Nambot (France) TBR1
Stefan Barakat (Netherlands)
Stefan Arold (Saudi Arabia) ATN1
Stefanie Brock (Belgium) TUBB2A
Stefano D'Arrigo (Italy) TELO2
Stefano Giuseppe Caraffi (Italy) B4GALT7
Stephan Zuchner (United States) FGF14
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
Susanne Boettcher (Germany)
Susanne Roosing (Netherlands) CEP120
Swati Singh EXOC6B
Sylvia Stockler (Canada) CLDN11
Sylvie Manouvrier (France) CDH1, CTNND1
Sylvie Odent (France) GLI2, SHH
Tamar Ben-Yosef (Israel) SCAPER
Tarik Duzenli (Turkey)
Taroh Kinoshita (Japan) PGAP1, PIGA, PIGG, PIGL, PIGM, PIGN, PIGQ, PIGW, PIGY
Tatjana Scheel (Germany)
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, FBXW7, ADARB1
Tobias B. Haack (Germany) SLC12A6
Tony Roscioli (Australia) PLOD3
Toshiyuki Yamamoto (Japan) WASF1
Tracy Dudding-Byth (Australia) IQSEC2
Ulrike Steuerwald (Faroe Islands) SUCLA2
Valentin Schriever (Germany)
Valentin Ruault (France) RAC3
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
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
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
Zippora Brownstein (Israel) ATOH1
Zuhair AlHassnan (Saudi Arabia) ISCA2

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