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Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-li…
Sarafrazi S; Daugherty SC; Miller N; Boada P; Carpenter TO; Chunn L; Dill K; Econs MJ; Eisenbeis S; Imel EA; Johnson B; Kiel MJ; Krolczyk S; Ramesan P; Truty R; Sabbagh Y.
Hum Mutat
(Unknown)
Published: 2021
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curatio…
Kountouris P; Stephanou C; Lederer CW; Traeger-Synodinos J; Bento C; Harteveld CL; Fylaktou E; Koopmann TT; Halim-Fikri H; Michailidou K; Nfonsam LE; Waye JS; Zilfalil BA; Kleanthous M; ClinGen Hemoglobinopathy Variant Curation Expert Panel.
Hum Mutat
(Unknown)
Published: 2021
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a …
Cappuccio G; Ceccatelli Berti C; Baruffini E; Sullivan J; Shashi V; Jewett T; Stamper T; Maitz S; Canonico F; Revah-Politi A; Kupchik GS; Anyane-Yeboa K; Aggarwal V; Benneche A; Bratland E; Berland S; D'Arco F; Alves CA; Vanderver A; Longo D; Bertini E; Torella A; Nigro V; Telethon Undiagnosed Diseases Program; D'Amico A; van der Knaap MS; Goffrini P; Brunetti-Pierri N.
Hum Mutat
(Unknown)
Published: 2021
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability…
Halewa J; Marouillat S; Dixneuf M; Thépault RA; Ung DC; Chatron N; Gérard B; Ghoumid J; Lesca G; Till M; Smol T; Couque N; Ruaud L; Chune V; Grotto S; Verloes A; Vuillaume ML; Toutain A; Raynaud M; Laumonnier F.
Hum Mutat
(Unknown)
Published: 2021
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
van Woerden GM; Bos M; de Konink C; Distel B; Avagliano Trezza R; Shur NE; Barañano K; Mahida S; Chassevent A; Schreiber A; Erwin AL; Gripp KW; Rehman F; Brulleman S; McCormack R; de Geus G; Kalsner L; Sorlin A; Bruel AL; Koolen DA; Gabriel MK; Rossi M; Fitzpatrick DR; Wilkie AOM; Calpena E; Johnson D; Brooks A; van Slegtenhorst M; Fleischer J; Groepper D; Lindstrom K; Innes AM; Goodwin A; Humberson J; Noyes A; Langley KG; Telegrafi A; Blevins A; Hoffman J; Guillen Sacoto MJ; Juusola J; Monaghan KG; Punj S; Simon M; Pfundt R; Elgersma Y; Kleefstra T.
Hum Mutat
(Unknown)
Published: 2021
New variants and in silico analyses in GRK1 associated Oguchi disease.
Poulter JA; Gravett MSC; Taylor RL; Fujinami K; De Zaeytijd J; Bellingham J; Rehman AU; Hayashi T; Kondo M; Rehman A; Ansar M; Donnelly D; Toomes C; Ali M; UK Inherited Retinal Disease Consortium; Genomics England Research Consortium; De Baere E; Leroy BP; Davies NP; Henderson RH; Webster AR; Rivolta C; Zeitz C; Mahroo OA; Arno G; Black GCM; McKibbin M; Harris SA; Khan KN; Inglehearn CF.
Hum Mutat
(Unknown)
Published: 2020