Moderators | Genes |
|---|---|
| Farhad Abbasi (Montreal) | ARV1, BRPF1, PIGT |
| Megan Abbott (Denver) | SCN1B |
| Andrea Accogli (Montreal) | CNTNAP2, NAA20 |
| Margaret Adam (Washington) | ZEB2 |
| Shelin Adam (Vancouver BC) | YWHAG |
| Nouran Adly (Riyadh) | PNPO |
| Shagun Aggarwal (Hyderabad) | HERC1 |
| Pankaj Agrawal (Miami) | CLCN3, SPEG |
| Eun-Young Erin Ahn (Mobile) | SON |
| Shahid I ajmeri (AHMEDABAD) | michel2017, PHIP |
| Halil Tuna Akar (Ankara) | COQ9, MAN1B1 |
| Nurten Akarsu (Ankara) | ALX1, ELMO2 |
| Elinaz Akbariazar (Urmia) | GTPBP2 |
| Hatoon Al Ali (Houston) | ZNF668 |
| Mohamed Al-Owain (Riyadh) | KCNA4 |
| Lama AlAbdi (Riyadh) | MYCBP2 |
| Ceren Alavanda (Istanbul) | SMAD4 |
| Albandary AlBakheet (Riyadh) | KCNA4 |
| Mazhor S. Aldosary (Riyadh) | ISCA2 |
| Majid Alfadhel (Riyadh) | ADK, DLL1, EMC10, KIF16B, RAP1GDS1 |
| Ahmed Alfares (Riyadh) | EMC10, KIF16B, RAP1GDS1 |
| Malak Alghamdi (Riyadh) | PNPO |
| Zuhair AlHassnan (Riyadh) | ISCA2 |
| Fowzan Alkuraya (Riyadh) | ABCA2, ADAT3, ALKBH8, ANKLE2, AP1B1, ARL14EP, ARL6, ASPH, ATN1, ATXN2L, C12orf57, CTU2, DCAF17, DDX59, DOCK6, ELOVL4, EOGT, FAM149B1, FBXL4, GZF1, IFT27, KIAA1109, KIF26A, LARP7, LRPAP1, MEOX1, MFF, MPDZ, MYO18B, NECAP1, NKX6-2, P4HTM, PERP recessive, PHGDH, POC1A, PTPN23, PUS3, RIC1, RSPRY1, RTTN, SMG8, SMG9, TAF6, TMEM231, TMEM94, TNIK, TRMT1, TSEN15, UFC1, UFM1, UNC80, WDR4, WDR81, ZNF668 |
| Mo Almannai (Riyadh) | KIF26A, METTL23 |
| Rawan Almass (Riyadh) | ISCA2, KCNA4 |
| Maysoon Alsagob (Riyadh) | ISCA2, KCNA4 |
| Hessa S Alsaif (Riyadh) | ZNF668 |
| Hind Alsharhan (Kuwait) | LYRM7 |
| Charlotte L Alston (Newcastle upon Tyne) | NDUFA6, NDUFAF8, TMEM126B |
| Sarah Alsubhi (Montreal) | SLC45A1 |
| Sule Altiner (Ankara) | MASP1 |
| Tamires Silva Alves (Porto Alegre) | GUSB |
| Ali Hassan Alwadei (Riyadh) | RUSC2 |
| Attila Ambrus (Budapest) | DLD |
| David Amor (Melbourne) | IREB2 |
| Kwame Anyane-Yeboa (New York) | GNB1 |
| Rami Aqeilan (Jerusalem) | WWOX |
| Emanuela Argilli (San Francisco) | BHLHE22, SUPT16H |
| Ruth Arkell (Canberra) | ZIC2 |
| Stefan Arold (Thuwal) | ATN1 |
| Rafael Artuch (Barcelona) | UROC1 |
| Benoit Arveiler (Bordeaux) | BLOC1S5, DCT |
| Reza Asadollahi (London) | MED13L |
| Ayça Dilruba Aslanger (Istanbul) | SMAD4 |
| Isis Atallah (Lausanne) | TPP2 |
| Karen B. Avraham (Tel Aviv) | ATOH1 |
| André S. Bachmann (Grand Rapids) | ODC1 |
| Magdalena Badura-Stronka (Poznan) | CYP27A1 |
| Dorien Baetens (Ghent) | NR5A1 |
| Vikram Bagchi (Ann Arbor) | SCN1A |
| Bing Bai (Yunnan) | TH |
| Kate Baker (Cambridge) | SYT1, ZDHHC9 |
| Khadijah Bakur (Riyadh) | ABCA2, ADAT3, ALKBH8, ANKLE2, AP1B1, ARL14EP, ARL6, ASPH, ATXN2L, C12orf57, CTU2, DCAF17, DDX59, DOCK6, ELOVL4, EOGT, FAM149B1, FBXL4, GZF1, IFT27, KIAA1109, LARP7, LRPAP1, MEOX1, MFF, MPDZ, MYO18B, NECAP1, P4HTM, PERP recessive, PHGDH, POC1A, PTPN23, PUS3, RIC1, RSPRY1, RTTN, SMG8, SMG9, TAF6, TMEM231, TMEM94, TNIK, TRMT1, TSEN15, UFC1, UFM1, UNC80, WDR4, WDR81 |
| Shanti Balasubramaniam (Sydney) | CRLS1 |
| Meena Balasubramanian (Sheffield) | HNRNPU |
| Emily Banks (Montreal) | DENND5A |
| Amin J. Barakat (Washington, DC) | GATA3 |
| Diana Baralle (Southhampton) | COPB1, PURA, TRIO |
| Kristin Baranano (Baltimore) | EXOSC3 |
| Sofia Barbosa-Gouveia (Santiago de Compostela) | AGK, EARS2, FOXRED1 |
| Emanuele Barca (New York) | RMND1 |
| Rita Barone (Catania) | CELF4 |
| Maria J. Barrero (Madrid) | EHMT2 |
| Emanuele Bartolini (Pisa) | CUL4B |
| Susan Baserga (New Haven) | RBM28 |
| Sulman Basit (Madinah) | CIT |
| Aria Batut (Paris) | SHANK2, SHANK3 |
| Allan Bayat (Dianalund) | GRIA1/GRIA2/GRIA3/GRIA4, PGAP1, PIGA, PIGG, PIGL, PIGM, PIGN, PIGQ, PIGW, PIGY |
| Éliane Beauregard-Lacroix (Montreal) | FIG4, POLR3GL, UBR7 |
| Anais Begemann (Schlieren) | CYFIP2 |
| Hugo Bellen (Houston) | FRDM5, FRMD5, IRF2BPL, TIAM1 |
| Tamar Ben-Yosef (Haifa) | SCAPER |
| Jean-François Benoist (Paris) | MMUT |
| Alberto Berardi (Modena) | COG6 |
| Carsten Bergmann (Mainz) | TULP3 |
| Simone Berkel (Heidelberg) | SHANK1, SHANK2, SHANK3 |
| Samuel Berkovic (Melbourne) | LMNB2 |
| Lina Berkun (Jerusalem) | VRK1 |
| Laura Bernardini (Rome) | ASCC1 |
| Thomas Besnard (Nantes) | LSS |
| Elisa Bettella (Padua) | TANC2 |
| Stéphane Bézieau (Nantes) | PSMC3 |
| Shreyas Bhat (Montréal) | KCNB2 |
| Arin Bhattacharjee (Buffalo) | KCNT2 |
| Gandham SriLakshmi Bhavani (Manipal) | EXOC6B |
| Vikram Bhise (New Brunswick) | RPIA |
| Elizabeth Bhoj (Philadelphia) | CSNK1G1, TBCK |
| Weimin Bi (Houston) | PPP3CA, PRR12 |
| Stephanie Bielas (Ann Arbor) | ASXL3 |
| Rikard Blunck (Montréal) | KCNB2 |
| Olaf Bodamer (Boston) | TBR1 |
| Hilmi Bolat (Balikesir) | TRAPPC9 |
| Francois Bolduc (Edmonton) | FOXG1 |
| Bregje van Bon (Nijmegen) | DYRK1A, SETBP1 related developmental delay, SETBP1 Schinzel-Giedion syndrome |
| Ernie Bongers (Nijmegen) | GMNN, TBX4 |
| Annette Borchers (Marburg) | FBRSL1 |
| Ingo Borggräfe (Munich) | CCDC186 |
| Barbara Borroni (Brescia) | ELOVL5 |
| Maria Carla Borroto (Montreal) | ERI1, ERI1 Guo-Campeau type, ERI1 Hoxha-Aliu syndrome, KDM5B, KDM5B dominant, KDM5B recessive, MSL2, RAB11A |
| Danielle Bosch (Nijmegen) | NR2F1, RERE |
| Elisabeth Bosch (Erlangen) | CPE |
| Thomas Bourgeron (Paris) | SHANK1, SHANK2, SHANK3 |
| Jackie Boyle (Waratah) | IQSEC2, THOC2 |
| Angela F Brady (Harrow) | CCDC88A |
| Bernard Brais (Montreal) | FGF14 |
| María Palomares Bralo (Madrid) | CEP57, ZFHX4 |
| Nuria Brämswig (Münster) | ARID2, TRIP12 |
| Francesco Brancati (Rome) | PVRL1, PVRL4 |
| Jeroen Breckpot (Leuven) | ZRSR2 |
| Kakha Bregvadze (Tbilisi) | STAG1 |
| Martin Breuss (Aurora) | HEATR5B |
| Stefanie Brock (Brussels) | TUBB2A |
| Peter Bross (Aarhus) | HSPD1 |
| Arjan de Brouwer (Nijmegen) | SERAC1 |
| Zippora Brownstein (Tel Aviv) | ATOH1 |
| Melanie Brugger (Munich) | CCDC186 |
| Theresa Brunet (Munich) | MSL3 |
| Han Brunner (Nijmegen) | PACS1 |
| Alfredo Brusco (Torino) | CAPRIN1, ELOVL5, RPH3A |
| Rebecca Buchert (Tübingen) | KICS2 |
| Christoph Bührer (Berlin) | SLC31A1 |
| Caleb Bupp (Grand Rapids) | MYH10, ODC1 |
| Francisco Bustos (Sioux Falls) | RLIM, USP27X |
| Merlin Butler (Kansas City) | ADAMTSL2, ADAMTSL2 autosomal dominant, ADAMTSL2 autosomal recessive |
| Giulia Cagnoli (Milan) | HS6ST2 |
| Daniel Calame (Houston) | NSRP1 |
| Keith W Caldecott (Brighton) | TDP2 |
| Elisa Calí (London) | PRMT7 |
| Bert Callewaert (Ghent) | FOXP1, ZFHX4 |
| Kristina Calli (British Columbia) | POLR2A |
| Philippe Campeau (Montréal) | ACTL6B, ACTL6B dominant, ACTL6B recessive, ARV1, ATP6V0C, BRPF1, C18orf32, CHD3, ERI1, ERI1 Guo-Campeau type, ERI1 Hoxha-Aliu syndrome, FIG4, FN1, FN1 GFND2, FN1-SMDCF, FRMPD4, GINS3, GPAA1, JARID2, KAT5, KAT6B, KAT8, KCNB2, KDM5B, KDM5B dominant, KDM5B recessive, MSL2, MYOD1, NCOR2, OXR1, PAX7, PGAP1, PIGA, PIGB, PIGC, PIGF, PIGG, PIGH, PIGK, PIGL, PIGM, PIGN, PIGP, PIGQ, PIGS, PIGT, PIGV, PIGW, PIGY, POLR3GL, RAB11A, RNU4ATAC, SMARCC2, SMARCD1, TBC1D24, TRRAP, UBR5, UBR7, VPS13D |
| Jaume Campistol (Barcelona) | NFU1 |
| Valeria Capra (Genova) | THOC6 |
| Stefano Giuseppe Caraffi (Reggio Emilia) | B4GALT7, ZEB2 |
| John Carey (Salt Lake City) | RBM10, SON |
| Colleen M. Carlston (San Francisco) | RBM10 |
| Pilar Caro (Heidelberg) | PRKAR1B, USP7 |
| Thomas Carpenter (New Haven) | ANKH |
| Laura Machado Lara Carvalho (São Paulo) | EHMT2 |
| Dolors Casellas-Vidal (Girona) | SLC6A9 |
| Claudia Cerezo (Houston) | PPFIA3 |
| Arda Cetinkaya (Istanbul) | ALX1, ELMO2 |
| Maria Chahrour (Dallas) | KDM5A |
| Sophelia Hoi Shan HS Chan (Hong Kong SAR) | CHKB |
| Hsiao-Tuan Chao (Houston) | EBF3, EIF2AK1, EIF2AK2, PPFIA3 |
| Nicolas Chassaing (Toulouse) | OTX2 |
| Kiranam Chatti (Hyderabad) | AIMP2 |
| Ayeshah Chaudhry (Toronto) | PTCHD1 |
| Annabelle Chaussenot (Nice) | NDUFS6, SUCLG1 |
| Viorica Chelban (London) | NKX6-2 |
| Rui Chen (Houston) | CWC27 |
| I-ping Chen (Farmington) | ANKH |
| Norio Chihara (Kobe) | CPLANE1 |
| Muhammad O. Chohan (New York) | SLC1A1 |
| Maya Chopra (Boston) | ANKRD17 |
| Eliane Chouery (Beirut) | POLD3 |
| Kryproula Christodoulou (Nicosia) | ANO10 |
| John Christodoulou (Melbourne) | NAXD, NAXE, NRROS, TRAPPC4 |
| Wendy Chung (New York) | AGMO, TIAM1 |
| Brian Hon Yin Chung (Hong Kong) | CHKB, CTNNB1, MN1 |
| Claudia Ciaccio (Milan) | TELO2 |
| Jill Clayton-Smith (Manchester) | CNKSR2 |
| Emma Clement (London) | SMARCB1 |
| Benjamin Cogné (Nantes) | TRRAP |
| Eran Cohen-Barak (Afula) | CHMP3 |
| Dilek Colak (Riyadh) | ISCA2, KCNA4 |
| Meagan Collins (Montreal) | FRMPD4 |
| Martine Cools (Ghent) | NR5A1 |
| Gregory M. Cooper (Huntsville) | RALA, ZMYM3 |
| William C Copeland (Durham) | POLG, POLG2, SSBP1 |
| Jorge Román Corona Rivera (Guadalajara) | EFNB1 |
| Rocío Carolina Cortés-Pastranaa (Guadalajara) | EFNB1 |
| Margot A. Cousin (Rochester) | KCNK9 |
| Timothy C Cox (Kansas City) | AMOTL1 |
| John Creemers (Leuven) | PREPL |
| Silvestre Cuinat (Nantes) | SRRM2 |
| Cynthia Curry (Fresno) | PPM1D |
| Stefano D'Arrigo (Milan) | TELO2 |
| Claudio D'Incal (Antwerpen) | ADNP |
| Gianluca D'Onofrio (Genoa) | CNTNAP2, NAA20 |
| Hormos Dafsari (Cologne) | AP3B2, AP3D1, KIFBP, PUF60 |
| Yuwei Dai (Changsha) | FRDM5, FRMD5 |
| Pu Dai (Beijing) | ATP6V1B2 |
| Ashwin Dalal (Hyderabad) | ARMC9, HERC1 |
| Joana Damásio (Porto) | ATP8A2 |
| An Ngoc Dang Do (Bethesda) | EIF2S3 |
| Nada Danial-Farran (Afula) | CHMP3 |
| Matt C Danzi (Miami) | FGF14 |
| Aneek Das Bhowmik (Hyderabad) | HERC1 |
| Chaitnya Datar (Pune) | GM2A |
| Erica Davis (Durham) | RORA |
| J.H.F. de Baaij (Nijmegen) | CNNM2, HNF1B |
| Elfride De Baere (Ghent) | NR5A1 |
| Daniel Natera de Benito (Barcelona) | CHRNG |
| Alessandro De Luca (Rome) | TBC1D20 |
| Adolfo Lopez de Munain (San Sebastian) | BSCL2 |
| Beatriz Cristina de Oliveira (São Paulo) | EHMT2 |
| Bibiana Mello de Oliveira (Porto Alegre) | GUSB |
| Jean-Madeleine de Sainte Agathe (Paris) | ARF1 |
| Bert de Vries (Nijmegen) | ABAT Copy, ADNP, ARID1B, CHD8, DEAF1, DEAF1 autosomal dominant, DEAF1 autosomal recessive, FBXO11, KANSL1, PHF5A, PHIP, PPM1D, SPOP, SPOP GoF, SPOP LoF, TRIO, WAC, YY1 |
| Matthew Deardorff (Los Angeles) | KCNK9, SMARCA5, WDR26 |
| Mireia del Toro (Barcelona) | NFU1 |
| Andrea Delle Vedove (Cologne) | PIEZO2 |
| Richard Delorme (Paris) | SHANK1, SHANK2, SHANK3 |
| Leigh A.M. Demain (Manchester) | CLPP, ERAL1, HARS2, LARS2 |
| Michelle Demos (Vancouver BC) | YWHAG |
| Maria Lisa Dentici (Rome) | ZNF526 |
| Christel Depienne (Essen) | CHD5, HCN1, KCNN2, SOX5 |
| Bart Dermaut (Ghent) | PLAAT3 |
| Ivano Di Meo (Milan) | ETHE1 |
| Cristina Dias (London) | BCL11A, SMARCB1 |
| Melissa DiBacco (Boston) | ABAT |
| Lex Dingemans (Nijmegen) | ARID1B, CDK13, CHD8, DDX3X, DEAF1, DEAF1 autosomal dominant, DEAF1 autosomal recessive, Deletion 22q11, DNMT3A gain of function, EHMT1, KANSL1, KDM3B, PHF5A, PHIP, PPM1D, SPOP LoF, TRIO, WAC, YY1 |
| Carlo Dionisi-Vici (Rome) | SUCLA2 |
| Bill Dobyns (Seattle) | AKT3, ARX, CCND2, CRADD, MTOR, PIK3CA, PIK3R2, SIK1 |
| Sevil Dorum (Bursa) | MAN1B1 |
| Sofia Douzgou (Manchester) | MEF2C |
| Steffi Dreha-Kulaczewski (Göttingen) | GJC2 |
| Tzofia Drori (Miami) | CLCN3, SPEG |
| Lifen Duan (Yunnan) | TH |
| Isabelle Duband-Goulet (Paris) | TRIP4 |
| Christèle Dubourg (Rennes) | GLI2, SHH |
| Mark Durham (Houston) | CIC |
| Ceren Damla Durmaz (Ankara) | MASP1 |
| Darius Ebrahimi-Fakhari (Boston) | AP4B1, AP4E1, AP4M1, AP4S1 |
| Frédéric Ebstein (Nantes) | PSMC3 |
| Marelise Eekhoff (Amsterdam) | KDELR2 |
| Stephanie Efthymiou (London) | CLN5, NARS1, NFASC, SLITRK3 |
| Jos I.M. Egger (Nijmegen) | HNMT |
| Hannelore Ehrenreich (Göttingen) | TBR1 |
| Evan Eichler (Seattle) | ADNP, CHD2, CHD8, CHR1Q21, DYRK1A, KANSL1, POGZ, SETBP1 |
| Peggy S. Eis (New York) | NUBPL |
| Miriam Elbracht (Aachen) | C2orf69, COG6 |
| Abdallah F Elias (Montana) | ZNF148 |
| Mariet Elting (Amsterdam) | KDELR2 |
| Jade England (Montreal) | FN1, FN1 GFND2, FN1-SMDCF |
| Carl Ernst (Montreal) | ACTL6B recessive |
| Edoardo Errichiello (Pavia) | ESAM |
| Teresa Esposito (Naples) | LAMA5 |
| Dario Esposito (Rome) | PRICKLE1 |
| Gareth Evans (Manchester) | LZTR1, NF2 |
| Lisa Ewans (Sydney) | PLOD3 |
| Maha A. Faden (Riyadh) | RSPRY1 |
| Ivan Fai-man Lo (Hong Kong) | CTNNB1, DPH1 |
| Laurence Faivre (Dijon) | UNC45A |
| Flavio Faletra (Udine) | MED13 |
| Pietro Farinelli (Copenhagen) | CEP78 |
| Mohammed Faruq (New Delhi) | KIF5A, NPR2 |
| Fabio R. Faucz (Maryland) | ARMC5, PRKAR1A |
| Hagit Baris Feldman (Tel Aviv) | CD55, NRCAM |
| Clea Bárcena Fernández (Oviedo) | BANF1 |
| Gorka Fernández-Eulate (Paris) | BSCL2 |
| Erika Fernandez-Vizarra (Cambridge) | APOPT1 |
| Carlos R. Ferreira (Washington, DC) | COG4, ENPP1 |
| Ana Ferreiro (Paris) | TRIP4 |
| Marco Fichera (Catania) | ADGRB3 |
| Michael Field (Waratah) | BRWD3, SLC9A6, SLC9A7, THOC2, ZSWIM6 |
| Isabel Filges (Basel) | CENPF, KIF4A |
| Aleksandra Filipovska (Perth) | CRLS1 |
| Simon Fisher (Nijmegen) | FOXP2 |
| Petit Florence (Lille) | WNT10B |
| Laura Fontana (Milan) | HS6ST2 |
| Frederico Forneris (Pavia) | PLOD3 |
| Paola Fortugno (Rome) | PVRL1, PVRL4 |
| Michael Fountain (Houston) | MAGEL2 |
| Brunella Franco (Naples) | COX7B, NDUFB11, OFD1 |
| Alison Freed (Portland) | PANK2, PLA2G6 |
| José M. P. Freije (Oviedo) | BANF1 |
| Mike Friez (Greenwood) | MED12 |
| Andrew Fry (Cardiff) | PCGF2 |
| Dragony Fu (Rochester) | DALRD3 |
| Elif Funda Sener (Kayseri) | CC2D1A |
| Francesca Fusco (Naples) | IKBKG/NEMO |
| Michael Terrence Gabbett (Brisbane) | KCNH1 |
| Michele Gabriele (Milan) | YY1 |
| Andrea Gangfuß (Essen) | MEIS2 |
| Livia Garavelli (Reggio Emilia) | B4GALT7, ZEB2 |
| Angels García-Cazorla (Barcelona) | NFU1 |
| Sixto García-Miñaúr (Madrid) | ZFHX4 |
| Judit García-Villoria (Barcelona) | NFU1 |
| Jutta Gärtner (Göttingen) | GJC2, RNASET2 |
| Janina Gburek-Augustat (Leipzig) | NEU1 |
| Jozef Gecz (Adelaide) | PCDH19, THOC2, ZSWIM6 |
| Vincenzo Alessandro Gennarino (New York) | CERT1, PUM1 |
| Benoit J Gentil (Montreal) | HADHB, SACS |
| Jamal Ghoumid (Lille) | CDH1, CTNND1 |
| Phillip F. Giampietro (Chicago) | KIAA1217 |
| Michael Gibson (Spokane) | ABAT |
| Melissa Gilbert (Philadelphia) | JAG1 |
| Maddie Gillentine (Seattle) | HNRNPU |
| Katta Mohan Girisha (Udupi) | B9D2, EXOC6B, HHAT, NEPRO |
| Roberto Giugliani (Porto Alegre) | GUSB |
| Nina B. Gold (Boston) | CSNK1G1 |
| Claudia Gonzaga-Jauregui (Tarrytown) | BMP2, COL27A1, PRUNE1 |
| Jean-Marc Good (Lausanne) | CNOT2 |
| Jennifer Gordon (Philadelphia) | PURA |
| Chris Gordon (Paris) | ANKRD17, MN1 |
| Kathleen Gorman (London) | KMT2B |
| John M. Graham Jr. (Los Angeles) | KCNK9 |
| Maria Grazia Giuffrida (Rome) | ASCC1 |
| Claudio Graziano (Bologna) | SOX4 |
| Steven C. Greenway (Calgary) | DNAJC19 |
| Anne Gregor (Bern) | LHX2 |
| Allison Gregory (Portland) | PANK2, PLA2G6, WDR45 |
| Emily Groopman (Washington DC) | KMT2E |
| Andrea L. Gropman (Washington, DC) | TANGO2 |
| Renzo Guerrini (Florence) | LIS1 |
| Maria J. Guillen Sacoto (Gaithersburg) | MEIS2, MORC2 |
| Long Guo (Xi'an) | CSF1R, CSF1R ALSP, CSF1R BANDDOS |
| Neerja Gupta (New Delhi) | AIMP2 |
| Tobias B. Haack (Tübingen) | KCNC1, KICS2, SLC12A6 |
| Mieke van Haelst (Amsterdam) | STXBP1 |
| Hakon Hakonarson (Philadelphia) | MBTPS2 |
| Anna Hakonen (Helsinki) | MYH3, MYH3 autosomal dominant, MYH3 autosomal recessive, SLC18A3 |
| Calder Hamill (Clayton) | ADARB1, FBXW7 |
| Trine Bjørg Hammer (Dianalund) | NEXMIF |
| Kentaro Hanada (Tokyo) | CERT1 |
| Fady Hannah-Shmouni (Maryland) | ARMC5, PRKAR1A |
| A.V.E. Harder (Leiden) | ATP1A2, CACNA1A |
| Madeleine Hardy (Canberra) | ZIC2 |
| Frederike L. Harms (Hamburg) | PHF5A |
| Holly Harris (Houston) | RFX3, RFX4, RFX7 |
| Lusine Harutyunyan (Antwerpen) | ADNP |
| Cristina Has (Freiburg) | KLHL24 |
| A Haseena Sait (Lucknow) | DVL1, NFIX, ROR2, SNX14 |
| Muhammad Jawad Hassan (Islamabad) | CEP135, CtIP, MCPH1, WDR62 |
| Eli Hatchwell (Oxfordshire) | NUBPL |
| Markéta Havlovicová (Prague) | KCNN3 |
| Susan Hayflick (Portland) | PANK2, PLA2G6, WDR45 |
| Malavika Hebbar (Vancouver BC) | YWHAG |
| Raoul Heller (Auckland) | PIEZO2 |
| Marco Henneke (Göttingen) | RNASET2 |
| Johanna C. Herkert (Groningen) | ALPK3 |
| Álvaro Hermida Ameijeiras (Santiago de Compostela) | AGK, EARS2, FOXRED1 |
| Rodrigo Herrera-Molina (Washington) | NPTN |
| Dominique Herve (Paris) | LAMB1 Autosomal Dominant |
| Susan M. Hiatt (Huntsville) | RALA, ZMYM3 |
| Michael Hildebrand (Melbourne) | LMNB2, SCN2A |
| Rochelle Hines (Las Vegas) | ARHGEF9 |
| Adam Sebastian Hirschfeld (Poznan) | CLN8, CYP27A1, DUX4 |
| Stephanie Ho (Hong Kong) | CTNNB1 |
| J.G.J. Hoenderop (Nijmegen) | CNNM2, HNF1B |
| M.J.V. Hoffer (Leiden) | ATP1A2, CACNA1A |
| Sandra Hoffmann (Heidelberg) | SHOX2 |
| Alexander Hoischen (Nijmegen) | PHIP |
| Jimmy Lloyd Holder (Houston) | PUM1 |
| Alexander M. Holtz (Boston) | MYH10 |
| Veronica Hood (Cherry Hill) | SCN1A |
| Gabriella Horvath (Vancouver) | DNM1L |
| Rita Horvath (Cambridge) | TEFM |
| Henry Houlden (London) | CLN5, NARS1, NFASC, SLITRK3 |
| Katherine Howell (Melbourne) | SCN2A |
| Christian A. Hübner (Jena) | GMPPA |
| Jane Hurst (London) | SRCAP FLHS |
| Alessia Indrieri (Naples) | COX7B, NDUFB11 |
| Giovanni Iolascon (Naples) | LAMA5 |
| Pablo Iruzubieta (San Sebastian) | FGF14 |
| Bertrand Isidor (Nantes) | LSS, PSMD12 |
| Lori Isom (Ann Arbor) | SCN1B |
| Masayuki Itoh (Tokyo) | CPLANE1 |
| Ivan Ivanovski (Zurich) | ZEB2 |
| Kosuke Izumi (Philadelphia) | ARCN1, NKAP |
| Prince Jacob (Mysuru) | HOXA1 |
| Marie-Line Jacquemont (Tours) | DPYSL5 |
| Jaak Jaeken (Leuven) | COG7 |
| Deepika Jain (Ahmedabad) | NEUROG1 |
| Rami Abou Jamra (Leipzig) | WDFY3 |
| Saumya Shekhar Jamuar | DCC, UGDH |
| Judith Jans (Utrecht) | MDH1, MDH2, SLC25A12 |
| Anna Jansen (Antwerp) | TUBB2A |
| Sandra Jansen (Nijmegen) | FBXO11, PPP2CA |
| Irma Järvelä (Helsinki) | C12orf4 |
| Sophie Javerzat (Bordeaux) | DCT |
| Musharraf Jelani (Khyber Pakhtunkhwa) | CC2D2A |
| Philip Jensik (Carbondale) | DEAF1, DEAF1 autosomal dominant, DEAF1 autosomal recessive, SPOP LoF |
| Aleksandra Jezela-Stanek (Warsaw) | FLCN, PIGV, SERPINA1 |
| Alokkumar Jha (New York) | RNU12 |
| Yong-hui Jiang (New Haven) | H1-4 |
| Katrine M. Johannesen (Copenhagen) | SLC6A1 |
| Arastoo Kaki (Hamedan) | PLAA |
| Vera Kalscheuer (Berlin) | CLCN4 |
| Sajel Lala Kana (Miami) | GATA3 |
| Rahul Kanadia (Storrs) | RNU12 |
| Anjana Kar (Hyderabad) | ARMC9 |
| Ender Karaca (Birmingham) | CLP1 |
| Mert Karakaya (Cologne) | PIEZO2 |
| Mitsuhiro Kato (Tokyo) | RHOBTB2 |
| Brian C. Kavanaugh (Providence) | GPT2 |
| Namik Kaya (Riyadh) | ISCA2, KCNA4 |
| Boris Keren (Paris) | TAF2 |
| Matthias Kettwig (Göttingen) | RNASET2 |
| Muhammad Ismail Khan (Khyber Pakhtunkhwa) | CC2D2A |
| Aneal Khan (Calgary) | DNAJC19 |
| Hazrat Ali Khan (Quetta) | LMAN2L |
| Ji-Sun Kim (New York) | RNU12 |
| Virginia Kimonis (Irvine, CA) | NUBPL |
| Taroh Kinoshita (Osaka) | PGAP1, PGAP2, PGAP3, PIGA, PIGG, PIGL, PIGM, PIGN, PIGO, PIGQ, PIGU, PIGW, PIGY |
| Lil Klaas (Rheinbach) | ACY1, ACY3 |
| Sabine Klaassen (Berlin) | PRDM16 |
| Kelly Knupp (Denver) | SCN1B |
| Jaewon Ko (Daegu) | MDGA2 |
| Saskia Koene (Nijmegen) | FOXP1 |
| Michel Koenig (Montpellier) | RORA |
| Kristy Kolc (Adelaide) | PCDH19 |
| Anna Kolesnik-Taylor (Cambridge) | SYT1, ZDHHC9 |
| Frank Kooy (Antwerp) | ADNP, ZNF711 |
| Jovana Kovacevic (Amsterdam) | STXBP1 |
| Florian Kraft (Aachen) | C2orf69, COG6 |
| Peter Krawitz (Bonn) | PGAP1, PIGA, PIGG, PIGL, PIGM, PIGN, PIGQ, PIGW, PIGY |
| Ana Cristina Victorino Krepischi (São Paulo) | EHMT2 |
| Ilona Krey (Leipzig) | GRIN1, GRIN2A, GRIN2B, GRIN2D |
| Elke Krüger (Greifswald) | PSMC3 |
| Alma Kuechler (Essen) | SOX5 |
| Petr Kuglik (Brno) | GNAI1 |
| Jirko Kühnisch (Berlin) | PRDM16 |
| Taco Kuijpers (Amsterdam) | EXTL3 |
| Raman Kumar (Adelaide) | THOC2, ZSWIM6 |
| Manju Kurian (London) | KMT2B, VPS16 |
| Alina Kurolap (Tel Aviv) | CD55, NRCAM |
| Kenji Kurosawa (Kanagawa) | CERT1 |
| Sébastien Küry (Nantes) | CAMK2A, CAMK2B, FAM111B, PSMC3, PSMD12, RORA, TRRAP |
| Kerstin Kutsche (Hamburg) | PHF5A |
| Didier Lacombe (Bordeaux) | CREBBP, EP300 |
| Lieven Lagae (Leuven) | SLC7A3 |
| Jenny Lai (Boston) | RFX3, RFX4, RFX7 |
| Costanza Lamperti (Milan) | ETHE1 |
| Nitika Langeh (Ahmedabad) | ANTXR2 |
| Frédéric Laumonnier (Tours) | DPYSL5 |
| Alinoë Lavillaureix (Rennes) | GLI2, SHH |
| Carolyn Le (San Francisco) | BHLHE22 |
| Cedric le Caignec (Toulouse) | SOX6 |
| Diana Le Duc (Leipzig) | WDFY3 |
| Mauro Lecca (Pavia) | ESAM |
| Richard G Lee (Perth) | CRLS1 |
| I-Chun Lee (Taichung) | NEU1 |
| Erika Leenders (Nijmegen) | PTPN11 |
| Veronique Lefebvre (Philadelphia) | SOX4, SOX5, SOX6 |
| Alan Lehmann (Brighton) | POLH, XPA, XPB, XPC, XPD, XPE, XPF, XPG |
| Gabrielle Lemire (Ottowa) | KAT6B, THOC6 |
| Johannes Lemke (Leipzig) | GRIN1, GRIN2A, GRIN2B, GRIN2D, KCNA2 |
| Giuliana Lentini (Rome) | AP1S2 |
| Maarten Lequin (Utrecht) | EML1 |
| Holger Lerche (Tübingen) | KCNA2, KCNC1 |
| Vanesa Lerma (Houston) | EIF2AK1, EIF2AK2 |
| Gaëtan Lesca (Lyon) | RORA |
| Davor Lessel (Hamburg) | DHX30 |
| Vincenzo Leuzzi (Rome) | AP1S2, PRICKLE1 |
| Ephrat Levy-Lahad (Jerusalem) | VRK1 |
| Suzanne Lewis (British Columbia) | POLR2A |
| Dong Li (Philadelphia) | SMARCA5 |
| Roland Lill (Marburg) | NFU1 |
| Xi Lin (Atlanta) | ATP6V1B2 |
| Dar-Shong Lin (Taipei) | PYCR1 |
| Carole Linster (Parkville) | NAXD, NAXE |
| Ioannis Livanos (Nicosia) | ANO10 |
| Bart Loeys (Antwerp) | BGN, IPO8, SKI, SMAD3 |
| Mauro Longoni (Boston) | LRP2 |
| Carlos López-Otín (Madrid) | BANF1 |
| Raymond J Louie (Greenwood) | FOXP3 |
| Karen Low (Bristol) | ANKRD11 |
| Shenzhao Lu (Houston) | FRDM5, FRMD5, TIAM1 |
| Eleanor Ludington (Melbourne) | FBXW7 |
| Licia Lugli (Modena) | COG6 |
| Ho-ming Luk (Hong Kong) | CTNNB1, DPH1 |
| James R. Lupski (Houston) | CLP1, NSRP1 |
| Gholson Lyon (Staten Island, New York) | ANKRD11, NAA10, NAA15, TAF1 |
| Michael Lyons (North Charleston) | MED12 |
| Keren Machol (Houston) | SMARCC2 |
| Rebecca Macintosh (Sydney) | KCNT2 |
| William Macken (Southampton) | COPB1 |
| Irene Mademont-Soler (Girona) | SLC6A9 |
| Eamonn R Maher (Cambridge) | DIS3L2 |
| Jannette Mailo (Alberta) | PTPN23 |
| Christopher Mak (Hong Kong) | MN1 |
| Sylvie Manouvrier (Lille) | CDH1, CTNND1 |
| Cungui Mao (New York) | ACER3 |
| Michael Marble (Albuquerque) | PPP1CB |
| Paul C. Marcogliese (Houston) | IRF2BPL |
| Carla Marini (Ancona) | HCN1 |
| Ronit Marom (Houston) | ACTL6A, GLRA2 |
| Reza Maroofian (London) | PRMT7 |
| Ashley Pamela Lesle Marsh (Melbourne) | DCC |
| Helge Martens (Hannover) | GDF6 |
| Donna Martin (Ann Arbor) | ASXL3 |
| Rami Massie (Montreal) | HADHB |
| Mario Mastrangelo (Rome) | AP1S2, PRICKLE1 |
| Gioia Mastromoro (Rome) | ASCC1 |
| Inge Mathijssen (Amsterdam) | HEY2 |
| Kento Matoba (Kobe) | CPLANE1 |
| Francesca Mattioli (Lausanne) | PCDH12 |
| Alessandra Maugeri (Amsterdam) | KDELR2 |
| Hannah K. Mayr (Vienna) | HACE1 |
| Benoit Mazel (Dijon) | ADGRL1 |
| Robert McFarland (Newcastle upon Tyne) | NDUFA6, NDUFAF8, TMEM126B |
| Alisdair McNeill (Sheffield) | MYT1L |
| Peter McPherson (Montreal) | DENND5A |
| Josephina Meester (Antwerp) | BGN |
| Andre Megarbane (Beirut) | CNTNAP1, POLD3, TMTC3 |
| Cybel Mehawej (Beirut) | POLD3 |
| Inge Meijer (Montreal) | VPS13D |
| Marina Melone (Naples) | LAMA5 |
| Björn Menten (Gent) | MYT1L |
| Lara Menzies (London) | SRCAP FLHS |
| Sandra Mercier (Nantes) | CAMK2A, CAMK2B, FAM111B |
| Saadet Mercimek-Andrews (Edmonton) | PPP3CA |
| Andrea Meredith (Baltimore) | KCNMA1 |
| Dimitra Micha (Amsterdam) | KDELR2 |
| Coralie Michaud (Montreal) | ATP6V0C, FIG4, FN1, FN1 GFND2, FN1-SMDCF, GINS3, GPAA1, JARID2, KAT5, KAT8, MYOD1, OXR1, PAX7, PIGB, PIGC, PIGF, PIGH, PIGK, PIGP, PIGS, RNU4ATAC, SMARCD1, TRRAP, UBR7, VPS13D |
| Marta Pacio Miguez (Madrid) | CEP57 |
| Donatella Milani (Milan) | HS6ST2 |
| Catia Mio (Udine) | MED13 |
| Monica Miozzo (Milan) | HS6ST2 |
| Ghayda Mirzaa (Seattle) | AKT3, CCND2, MTOR, PIK3CA, PIK3R2 |
| Mala Misra-Isrie (Amsterdam) | STXBP1 |
| Fanny Mochel (Paris) | KCNN2 |
| Florence Molinari (Marseille) | SLC25A22 |
| Birk Möller (Cologne) | KIFBP |
| Rikke S. Møller (Dianalund) | NEXMIF |
| Dirk Montag (Magdeburg) | NPTN |
| Eva Morava-Kozicz (Rochester) | DPM2, MOGS, PGM1 |
| Hélène Morel (Paris) | LAMB1 Autosomal Dominant |
| Angela Morgan (Melbourne) | FOXP2 |
| Eric M. Morrow (Providence) | GPT2 |
| Heba Morsy (London) | MDGA2 |
| João Moura (Porto) | ATP8A2 |
| David Mowat (Sydney) | ZEB2 |
| Weiyi Mu (Baltimore) | EXOSC3 |
| Yoshiko Murakami (Osaka) | PGAP1, PGAP2, PGAP3, PIGA, PIGB, PIGC, PIGF, PIGG, PIGK, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGU, PIGW, PIGY |
| Hiroaki Murakami (Gifu) | CERT1 |
| Alessandra Murgia (Padua) | TANC2 |
| Lucinda Murray (Sydney) | ZSWIM6 |
| Maria Nabais Sá (Nijmegen) | DEAF1, DEAF1 autosomal dominant, DEAF1 autosomal recessive, SPOP, SPOP GoF, SPOP LoF |
| Rima Nabbout (Paris) | KCNB1 |
| Sakkubai Naidu (Baltimore) | BRAT1, HIVEP2 |
| Aadhira Nair (Ahmedabad) | GM2A, LINS1, NEUROG1 |
| Sophie Nambot (Dijon) | TBR1 |
| Sheela Nampoothiri (Kochin) | GM2A |
| Filomena Napolitano (Naples) | LAMA5 |
| Dhanya Lakshmi Narayan (Manipal) | NEPRO |
| Andres Nascimento (Barcelona) | CHRNG |
| Muhammad Imran Naseer (Jeddah) | LRPPRC, NT5C2 |
| Caroline Nava (Paris) | PLCB1 |
| Shalini S Nayak (Manipal) | B9D2 |
| Matthew B. Neu (Stanford) | RALA |
| William G. Newman (Manchester) | CLPP, ERAL1, HARS2, HPSE2, LARS2, LRIG2, PRORP, TXNL4A |
| Francesco Nicita (Rome) | ATP1A1 |
| Dierk Niessing (Munich/Ulm) | PURA |
| Konstantinos Nikopoulos (Lausanne) | CEP78 |
| Ichizo Nishino (Tokyo) | CHKB |
| Lenka Noskova (Prague) | EHMT2 |
| Rocío Nur Villar Quiles (Paris) | TRIP4 |
| Anne O'Donnell Luria (Boston) | KMT2E |
| Charlotte Ockeloen (Nijmegen) | ANKRD11 |
| Sylvie Odent (Rennes) | GLI2, SHH |
| Renske Oegema (Utrecht) | EML1, KDM2B |
| Hitoshi Okazawa (Tokyo) | PQBP1 |
| Asburce Olgac (Ankara) | COQ9, MAN1B1 |
| Catarina Olimpio (Cambridge) | TEFM |
| Isabelle Oliver Petit (Toulouse) | SLC16A2 |
| John Orlowski (Montreal) | SLC9A1, SLC9A3, SLC9A6, SLC9A7 |
| Ferenc Orosz (Budapest) | TPI1 |
| Xilma Ortiz-Gonzalez (Philadelphia) | TBCK |
| Sarah Ossler (Middlefield) | PEPD, VPS13B |
| Machteld Oud (Nijmegen) | EXTL3, POC5 |
| Keiichi Ozono (Osaka) | SEC24D |
| Leda Paganini (Cremona) | HS6ST2 |
| David J. Pagliarini (St Louis) | NDUFAF8 |
| Lynn Pais (Boston) | KMT2E |
| Emma Palmer (Sydney) | ATN1, CLCN4, IQSEC2, KCNT2, PCDH19, PUM1, SCN2A, THOC2, ZSWIM6 |
| Shruti Pande (Udupi) | HHAT |
| Udai Pandey (Pittsburgh) | GEMIN5 |
| Chiara Pantaleoni (Milan) | TELO2 |
| John Pappas (New York) | PPP3CA, SETD2, THG1L |
| Ilaria Parenti (Essen) | CHD5 |
| Joohyun Park (Tübingen) | KCNC1, SLC12A6 |
| Elena Parrini (Florence) | LIS1 |
| Laurent Pasquier (Rennes) | RORA |
| Maria Rita Passos-Bueno (São Paulo) | EIF4A3 |
| Nisha Patel (Riyadh) | ASPH, GZF1 |
| Ketan Patel (Ahmedabad) | NEUROG1 |
| SJ Patil (Bengaluru) | HOXA1, PAX1 |
| Silke Pauli (Göttingen) | FBRSL1 |
| Lisa Pavinato (Bellinzona) | CAPRIN1, RPH3A |
| Phillip Pearl (Boston) | ABAT |
| David Pellerin (Montreal) | FGF14 |
| Sérgio D.J. Pena (Belo Horizonte) | STAG2 |
| Loren Pena (Cincinnati) | ASXL2, IRF2BPL |
| Christian Peña-Padilla (Guadalajara) | EFNB1 |
| Josef M. Penninger (Braunschweig) | HACE1 |
| Lorenzo Perilli (Genoa) | RELN |
| Angela Peron (Salt Lake City) | BCL11A, SMS |
| Brunelle Perrine (Lille) | WNT10B |
| Rolph Pfundt (Nijmegen) | ANKRD11 |
| Shubha R Phadke (Lucknow) | ARMC9, CHST3, DVL1, DVL3, NFIX, ROR2, SNX14 |
| Juliette Piard (Besançon) | CDK10 |
| Tyler Mark Pierson (Los Angeles) | GATAD2A, GATAD2B |
| Filippo Pinto e Vairo (Rochester) | RBM28 |
| Antonio Pizzuti (Rome) | ASCC1 |
| Julie Plaisancie (Toulouse) | OTX2 |
| Konrad Platzer (Leipzig) | NPTN |
| Barbara R. Pober (Boston) | LRP2 |
| Wojciech Pokrzywa (Warsaw) | FEM1C |
| Marzia Pollazzon (Reggio Emilia) | B4GALT7 |
| Laura J Powell (Newcastle Upon Tyne) | ARL3 |
| Vasudevan Pradeep (Leicester) | AHDC1 |
| Emma Price (Bethesda) | CTCF |
| Aurora Pujol (Barcelona) | BSCL2, DEGS1, KCNA1, PCYT2, PI4KA, RPS6KC1, SHMT2, UBAP1 |
| Dulce Quelhas (Porto) | COG7 |
| Catarina M. Quinzii (New York) | COQ2, RMND1 |
| Rachel Rabin (New York) | SETD2, THG1L |
| Benjamin A Raby (Boston) | MYH10 |
| Simone Race (Vancouver) | CLDN11 |
| Caroline Racine (Dijon) | UNC45A |
| Isa Abdi Rad (Urmia) | GTPBP2 |
| Silvia Radenkovic (Rochester) | DPM2, MOGS, PGM1 |
| Jessica Radley (London) | IQSEC2 |
| Elżbieta Radzikowska | FLCN |
| Rafiullah Rafiullah (Riyadh) | LMAN2L |
| Elisa Rahikkala (Oulu) | P4HTM |
| Deepa Rajan (Pittsburgh) | GEMIN5 |
| Gudrun A. Rappold (Heidelberg) | SHANK1, SHANK2, SHANK3, SHOX2 |
| Minoo Rassoulzadegan (Nice) | CC2D1A |
| Anita Rauch (Schlieren-Zurich) | CYFIP2, MED13L |
| Jean-Marie Ravel (Nancy) | SARS1 |
| Gina Ravenscroft (Perth) | ADGRG6 |
| Megan Rech (Houston) | MAGEL2 |
| Silke Redler (Düsseldorf) | QRICH1 |
| Luc Régal (Brussels) | PREPL |
| Ernst Reichenberg (Farmington) | ANKH |
| Margot Reijnders (Maastricht) | PURA |
| Solène Remize (Tours) | DPYSL5 |
| Anya Revah-Politi (New York) | GNB1 |
| Bruno Reversade | UGDH |
| Antonia Ribes (Barcelona) | NFU1 |
| Florence Riccardi (Marseille) | MEF2C |
| Chris Richmond (Brisbane) | CA8 |
| Korbinian M. Riedhammer (Munich) | CLDN11 |
| Alyssa Ritter (Philadelphia) | ARCN1, NKAP |
| Carlo Rivolta (Leicester) | CEP78 |
| Agusti Rodriguez-Palmero (Barcelona) | DEGS1, KCNA1, PCYT2, PI4KA, RPS6KC1, SHMT2, UBAP1 |
| Corrado Romano (Troina) | ADGRB3 |
| Nathalie Ronce (Tours) | FGD1 |
| Susanne Roosing (Nijmegen) | CEP120 |
| Tony Roscioli (Kensington) | PLOD3 |
| Elizabeth Ross (New York) | RNU12 |
| Cécile Rouzier (Nice) | NDUFS6, SUCLG1 |
| Valentin Ruault (Montpellier) | RAC3 |
| Lukáš Ryba (Prague) | KCNN3 |
| Daisy Rymen (Leuven) | CAMLG, STT3A |
| Ann Saada (Jerusalem) | DNM1L |
| Pascale Sabeh (Montreal) | UBR5 |
| Lynette Sadleir (Wellington) | PCDH19 |
| Hirotomo Saitsu (Hamamatsu) | RHOBTB2, SPTAN1 |
| Carlo Sala (Milano) | IL1RAPL1 |
| Smrithi Raghuram Salian (Montreal) | C18orf32 |
| Debopam Samanta (Little Rock) | GABBR2 |
| Simone Sampaolo (Naples) | LAMA5 |
| Gijs Santen (Leiden) | ARID1A, ARID1B, ARID2, SMARCA4 |
| Mariana Santos (Porto) | ATP8A2 |
| Fernando Santos-Simarro (Madrid) | CEP57, LIFR, ZFHX4 |
| Catherine Sarret (Clermont-Ferrand) | SLC16A2 |
| Jörn Oliver Sass (Rheinbach) | ACY1, ACY3, GLYCTK, SLC16A1 |
| Judy Savige (Melbourne) | COL4A3, COL4A4, COL4A5, LAMB2 |
| Rebecca Sayer (Manchester) | CNKSR2 |
| John A Sayer (Newcastle Upon Tyne) | ARL3, TULP3 |
| Marcello Scala (Genoa) | PRMT7 |
| Christian Schaaf (Houston) | MAGEL2, NR2F1, PRKAR1B, USP7 |
| André Schaller (Bern) | SDHA |
| Ingrid Scheffer (Melbourne) | NEXMIF, PCDH19 |
| Dorien Schepers (Antwerp) | SKI, SMAD3 |
| Ariane Schmetz (Düsseldorf) | TCOF1 |
| Kelly Schoch (Durham) | ASXL2, NACC1 |
| Simone Schröder (Göttingen) | GJC2 |
| Birgitt Schuele (Stanford, CA) | NUBPL |
| Nika Schuermans (Ghent) | PLAAT3 |
| Dorothea Schulte (Frankfurt) | MEIS2 |
| Sydney Schulz (British Columbia) | POLR2A |
| Janneke Schuurs-Hoeijmakers (Nijmegen) | PACS1 |
| Charles E. Schwartz (Greenwood) | SMS |
| Martin Schwarz (Prague) | KCNN3 |
| Floriana Secondulfo (Naples) | BBS1, BBS10 |
| Kuntal Sen (Washington, DC) | TANGO2 |
| Valentina Serpieri (Pavia) | CEP120 |
| Jhanvi Shah (Ahmedabad) | NEUROG1 |
| Ranad Shaheen (Riyadh) | ARL14EP, DOCK6, MPDZ, PHGDH, PUS3, SMG9, TMEM231, WDR81 |
| Stavit A. Shalev (Afula) | CHMP3 |
| Hanan E Shamseldin (Riyadh) | DDX59, MFF, RTTN, UNC80 |
| Sheetal Sharda (Ahmedabad) | ANTXR2 |
| Vandana Shashi (Durham) | ASXL2, IRF2BPL, NACC1, SMARCC2 |
| Debbie Shears (Oxford) | ZIC1 |
| Elliott H. Sherr (San Francisco) | BHLHE22 |
| Frenny Sheth (Ahmedabad) | LINS1, NEUROG1 |
| Harsh Sheth (Ahmedabad) | LINS1, NEUROG1 |
| Jayesh Sheth (Ahmedabad) | GM2A, LINS1, NEUROG1 |
| Amelle Shillington (Cincinnati) | ZMYND11 |
| Cheryl Shoubridge (Adelaide) | IQSEC2 |
| Anju Shukla (Manipal) | AIMP2 |
| Sofía Maritza Siccha Arancibia (Barcelona) | LIFR |
| David Sillence (Sydney) | PLOD3 |
| Swati Singh (Manipal) | EXOC6B |
| Sanjay Sisodiya (London) | TBC1D24 |
| Martina Skopkova (Bratislava) | EIF2S3 |
| Cara Skraban (Philadelphia) | WDR26 |
| Lennart Slagter (Nijmegen) | PPM1D, PPP2CA |
| Anne Slavotinek (San Francisco) | INTS1, RNF113A |
| Carson Smith (Miami) | GPSM2 |
| Miriam J Smith (Manchester) | LZTR1, NF2 |
| Nara Sobreira (Baltimore) | KIAA1217 |
| Jo Sourbron (Leuven) | SLC7A3 |
| Becky Spillmann (Durham) | IRF2BPL |
| Nancy Spinner (Philadelphia) | JAG1 |
| Siddharth Srivastava (Boston) | BRAT1, HIVEP2 |
| Somya Srivastava (Lucknow) | CHST3, DVL3 |
| Myriam Srour (Montreal) | SLC45A1 |
| Hannah Stamberger (Antwerp) | NEXMIF |
| Pawel Stankiewicz (Houston) | BPTF, PSMD12 |
| Rich Steet (Greenwood) | LMNB1 |
| Sander Stegmann (Maastricht) | AHDC1 |
| Joshi Stephen (Maryland) | EIF2AK1, EIF2AK2, TMEM94 |
| Ulrike Steuerwald (Tórshavn) | SUCLA2 |
| Servi JC Stevens (Maastricht) | SET, ZNF148 |
| Grant Stewart (Birmingham) | RECQL1, SLF2, SMC5 |
| Helen Stewart (Oxford) | KLHL15 |
| Sylvia Stockler (Vancouver) | CLDN11 |
| Constantine A. Stratakis (Maryland) | ARMC5, PRKAR1A |
| Pasquale Striano (Genoa) | RELN |
| Alanna Strong (Philadelphia) | AMOTL1, MBTPS2 |
| Ruifang Sui (Peking) | CWC27 |
| Andre Superti-Furga (Lausanne) | B4GALT7 |
| Andrea Superti-Furga (Lausanne) | TPP2 |
| Mohnish Suri (Nottingham) | AP1B1 |
| Steffen Syrbe (Heidelberg) | KCNA2 |
| Eszter Szabó (Budapest) | DLD |
| Shirley Sze-Wing Cheng (Hong Kong) | DPH1 |
| Lukasz Szewczyk (Warsaw) | TCF7L2 |
| Natalia Szulc (Warsaw) | FEM1C |
| Maurizio Taglialatela (Naples) | KCNQ2, KCNQ3 |
| Homa Tajsharghi (Skövde) | GAD1, MYH2, TOR1A |
| Shinji Takeyari (Osaka) | SEC24D |
| Tiong Yang Tan (Melbourne) | ADARB1, BMP2, FBXW7, RAC3 |
| Queenie K-G Tan (Durham) | FOXP3 |
| Kate Tatton-Brown (London) | DNMT3A, EZH2, HIST1H1E, NSD1 |
| Ali Reza Tavasoli (Tehran) | PLAA |
| Matthew RG Taylor (Aurora) | LAMP2 |
| Robert W Taylor (Newcastle upon Tyne) | NDUFA6, NDUFAF8, TMEM126B |
| Jason Tchieu (Cincinnati) | ZMYND11 |
| Mustafa Tekin (Miami) | GPSM2 |
| Chiara Terracciano (Naples) | LAMA5 |
| Giuseppe Testa (Milan) | YY1 |
| Quentin Thomas (Dijon) | ARFGEF1 |
| Valeria Tiranti (Milan) | ETHE1 |
| Tinatin Tkemaladze (Tbilisi) | STAG1 |
| Jun Tohyama (Niigata) | SPTAN1 |
| Mari Tokita (San Diego) | ACTL6A |
| Davide Tonduti (Milano) | SLC16A2 |
| Pinar Topaloglu (Istanbul) | MECP2 |
| Bea Torres-Fults (Middlefield) | TMCO1 |
| Frederic Tort (Barcelona) | NFU1 |
| Annick Toutain (Tours) | FGD1 |
| László Tretter (Budapest) | DLD |
| Eva Trevisson (Padova) | COQ2 |
| Kim Truijen (Nijmegen) | CHD8, CIC |
| Mandy HY Tsang (Hong Kong) | CTNNB1 |
| Dilşad Türkdoğan (Istanbul) | DOCK7 |
| Peter Turnpenny (Exeter) | PCGF2 |
| Kristian Tveten (Skien) | ZBTB7A |
| Steve Twigg (Oxford) | ZIC1 |
| Noor ul Ain (Islamabad) | GNPNAT1 |
| Muhammad Ikram Ullah (Sakaka) | CEP135, CtIP, MCPH1, WDR62 |
| Muhammad Umair (Riyadh) | ADK, DLL1, EMC10, KIF16B, RAP1GDS1 |
| Gul Unsel Bolat (Balikesir) | TRAPPC9 |
| Roser Urreizti (Barcelona) | TRAF7, UROC1 |
| Matilde Valeria Ursini (Naples) | IKBKG/NEMO |
| Enza Maria Valente (Pavia) | CEP120 |
| Irene Valenzuela (Barcelona) | ASXL3 |
| Nicole van Bergen (Parkville) | NAXD, NAXE, TRAPPC4 |
| Ingrid M.B.H. van de Laar (Rotterdam) | ASNA1 |
| A.M.J.M. van den Maagdenberg (Leiden) | ATP1A2, CACNA1A |
| Vyne van der Schoot (Rotterdam) | ZBTB18 |
| Anke Van Dijck (Antwerp) | ADNP, ZNF711 |
| Hilde Van Esch (Leuven) | LMNB1, MECP2 duplication |
| Julien Van Gils (Bordeaux) | CREBBP, EP300 |
| Erik van Heesbeen (Montreal) | CHD3 |
| Richard van Jaarsveld (Utrecht) | KDM2B |
| Lionel van Maldergem (Besançon) | CDK10 |
| Paul van Trotsenburg (Amsterdam) | IGSF1, IRS4, TBL1X, TRHR, TSHB |
| Eva van Walree (Amsterdam) | HEY2 |
| Geeske van Woerden (Rotterdam) | CAMK2A, CAMK2B |
| Konstantinos Varvagiannis (Athens) | TRIO, WAC |
| Georgia Vasileiou (Erlangen) | CPE |
| Emma L. Veale (Chatham Maritime) | KCNK9 |
| Jeremy Veenstra-VanderWeele (New York) | SLC1A1 |
| Milen Velinov (New Brunswick) | RPIA |
| Samantha A. Schrier Vergano (Norfolk) | SMARCE1 |
| Sarah Vergult (Ghent) | ZFHX4 |
| Matthijs Verhage (Amsterdam) | STXBP1 |
| Judith M.A. Verhagen (Rotterdam) | ALPK3, ASNA1 |
| Willem M.A. Verhoeven (Rotterdam) | HNMT |
| Aline Verstraeten (Antwerp) | IPO8, TGFB3 |
| Laurent Villard (Marseille) | BCAP31 |
| John Vincent (Toronto) | PTCHD1 |
| David Viskochil (Salt Lake City) | BCL11A |
| Lisenka Vissers (Nijmegen) | DEAF1, DEAF1 autosomal dominant, DEAF1 autosomal recessive, FBXO11, PPM1D, PPP2CA, SON, SPOP LoF, TRIO, WAC |
| Antonio Vitobello (Dijon) | ADGRL1, ARFGEF1 |
| Jerry Vockley (Pittsburgh) | IVD, SC4MOL |
| Thomas Voets (Leuven) | TRPM3 |
| Charlotte von der Lippe (Skien) | ZBTB7A |
| Christina Votsi (Nicosia) | ANO10 |
| Joris Vriens (Leuven) | TRPM3 |
| Marie-Laure Vuillaume-Winter (Tours) | DPYSL5, FGD1 |
| Anneke Vulto-van Silfhout (Nijmegen) | DEAF1, DEAF1 autosomal dominant, DEAF1 autosomal recessive, POC5 |
| Takahito Wada (Kawasaki) | ATRX |
| Matias Wagner (Munich) | CCDC186, MSL3 |
| Joanna Walczak-Sztulpa (Poznan) | WDR35 |
| Heng Wang (Middlefield) | PEPD, TMCO1, VPS13B |
| Michael Wangler (Houston) | NACC1 |
| Michael F. Wangler (Houston) | EBF3, GLRA2 |
| Katrin Watschinger (Innsbruck) | AGMO, PEDS1 |
| Marketa Wayhelova (Prague) | GNAI1 |
| Ruthild G. Weber (Hannover) | GDF6 |
| Axel Weber (Marburg) | HID1 |
| Yvonne Weber (Aachen) | KCNC2, PRRT2 |
| Sarah Weckhuysen (Antwerp) | GAD1, KCNQ2, KCNQ3 |
| Karin Weiss (Haifa) | CHD4 |
| Monika Weisz-Hubshman (Houston) | UFSP2 |
| Ron A. Wevers (Nijmegen) | SUCLA2 |
| Sandra Whalen (Paris) | BCAP31 |
| Arden Rae Wheeler (Houston) | PPFIA3 |
| Sue White (Melbourne) | DDB1, NRROS |
| Dagmar Wieczorek (Düsseldorf) | TCOF1, TRIP12 |
| Maxi Leona Wiese (Cologne) | AP3B2, AP3D1 |
| Andrew Wilkie (Oxford) | ZIC1 |
| Marjolein Willemsen (Nijmegen) | POGZ |
| Charlene Williams (Camden) | ANKH |
| Theresa Wilson (Houston) | RAI1, RAI1 Potocki-Lupski Syndrome, RAI1 Smith-Magenis Syndrome |
| Meredith Wilson (Sydney) | ZEB2 |
| Matthew Wilson (Leuven) | CAMLG, STT3A |
| Brunhilde Wirth (Cologne) | PIEZO2 |
| Marta Wisniewska (Warsaw) | TCF7L2 |
| Stefan Wolking (Aachen) | KCNC2, PRRT2 |
| Jung Woo Yu (Seoul) | MAP4K4 |
| Geoffey Woods (Cambridge) | CCDC88A, CLTCL1, NGF, NTRK1, PRDM12, SCN11A, SCN9A |
| Saskia Wortmann (Nijmegen) | SERAC1 |
| Rachel Wurth (Maryland) | ARMC5, PRKAR1A |
| Baozhong Xin (Middlefield) | PEPD, TMCO1, VPS13B |
| Toshiyuki Yamamoto (Tokyo) | WASF1, ZBTB20 |
| Yaping Yang (Houston) | BPTF |
| Yılmaz Yıldız (Ankara) | VPS16 autosomal recessive |
| Jihoon G. Yoon (Seoul) | MAP4K4 |
| Timothy W. Yu (Boston) | RFX3, RFX4, RFX7 |
| Yongyi Yuan (Beijing) | ATP6V1B2 |
| Miriam Zacchia (Naples) | BBS1, BBS10 |
| Regina M. Zambrano (New Orleans) | PPP1CB |
| Ginevra Zanni (Rome) | ATP2B3 |
| Yuri Zarate (Little Rock (AR)) | GABBR2, SATB2 |
| Konstantinos Zarbalis (Sacramento) | WDFY3 |
| Michael Zech (Munich) | VPS16 |
| Roseli Maria Zechi-Ceide (Bauru) | EIF4A3 |
| Massimo Zeviani (Cambridge) | APOPT1 |
| Jie Zhang (Yunnan) | TH |
| Jinhui Zhu (Xi'an) | CSF1R, CSF1R ALSP, CSF1R BANDDOS |
| Huda Zoghbi (Houston) | CIC |
| Stephan Zuchner (Miami) | FGF14 |
| Nitash Zwaveling-Soonawala (Amsterdam) | IGSF1, IRS4, TBL1X, TRHR, TSHB |
| Christiane Zweier (Bern) | LHX2 |
