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Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy…
Ascari G; Peelman F; Farinelli P; Rosseel T; Lambrechts N; Wunderlich KA; Wagner M; Nikopoulos K; Martens P; Balikova I; Derycke L; Holtappels G; Krysko O; Van Laethem T; De Jaegere S; Guillemyn B; De Rycke R; De Bleecker J; Creytens D; Van Dorpe J; Gerris J; Bachert C; Neuhofer C; Walraedt S; Bischoff A; Pedersen LB; Klopstock T; Rivolta C; Leroy BP; De Baere E; Coppieters F.
Hum Mutat
(Unknown)
Published: 2020
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI; Park S; Gavazzi F; Adang LA; Ayuk LA; Van Eyck L; Seabra L; Barrea C; Battini R; Belot A; Berg S; Billette de Villemeur T; Bley AE; Blumkin L; Boespflug-Tanguy O; Briggs TA; Brimble E; Dale RC; Darin N; Debray FG; De Giorgis V; Denecke J; Doummar D; Drake Af Hagelsrum G; Eleftheriou D; Estienne M; Fazzi E; Feillet F; Galli J; Hartog N; Harvengt J; Heron B; Heron D; Kelly DA; Lev D; Levrat V; Livingston JH; Marti I; Mignot C; Mochel F; Nougues MC; Oppermann I; Pérez-Dueñas B; Popp B; Rodero MP; Rodriguez D; Saletti V; Sharpe C; Tonduti D; Vadlamani G; Van Haren K; Tomas Vila M; Vogt J; Wassmer E; Wiedemann A; Wilson CJ; Zerem A; Zweier C; Zuberi SM; Orcesi S; Vanderver AL; Hur S; Crow YJ.
Hum Mutat
(Unknown)
Published: 2020
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
Mizumoto S; Janecke AR; Sadeghpour A; Povysil G; McDonald MT; Unger S; Greber-Platzer S; Deak KL; Katsanis N; Superti-Furga A; Sugahara K; Davis EE; Yamada S; Vodopiutz J.
Hum Mutat
(Unknown)
Published: 2019
Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.
Duerinckx S; Jacquemin V; Drunat S; Vial Y; Passemard S; Perazzolo C; Massart A; Soblet J; Racapé J; Desmyter L; Badoer C; Papadimitriou S; Le Borgne YA; Lefort A; Libert F; De Maertelaer V; Rooman M; Costagliola S; Verloes A; Lenaerts T; Pirson I; Abramowicz M.
Hum Mutat
(Unknown)
Published: 2019
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
Bury L; Megy K; Stephens JC; Grassi L; Greene D; Gleadall N; Althaus K; Allsup D; Bariana TK; Bonduel M; Butta NV; Collins P; Curry N; Deevi SVV; Downes K; Duarte D; Elliott K; Falcinelli E; Furie B; Keeling D; Lambert MP; Linger R; Mangles S; Mapeta R; Millar CM; Penkett C; Perry DJ; Stirrups KE; Turro E; Westbury SK; Wu J; BioResource N; Gomez K; Freson K; Ouwehand WH; Gresele P; Simeoni I.
Hum Mutat
(Unknown)
Published: 2019
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.
Saoura M; Powell CA; Kopajtich R; Alahmad A; Al-Balool HH; Albash B; Alfadhel M; Alston CL; Bertini E; Bonnen PE; Bratkovic D; Carrozzo R; Donati MA; Di Nottia M; Ghezzi D; Goldstein A; Haan E; Horvath R; Hughes J; Invernizzi F; Lamantea E; Lucas B; Pinnock KG; Pujantell M; Rahman S; Rebelo-Guiomar P; Santra S; Verrigni D; McFarland R; Prokisch H; Taylor RW; Levinger L; Minczuk M.
Hum Mutat
(Unknown)
Published: 2019
Heterozygosity mapping for human dominant trait variants.
Imai-Okazaki A; Li Y; Horpaopan S; Riazalhosseini Y; Garshasbi M; Mosse YP; Zhang D; Schrauwen I; Sharma A; Fann CSJ; Leal SM; Lathrop M; Ott J.
Hum Mutat
(Unknown)
Published: 2019