Hum Mutat
Hum Mutat
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201
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Subject Term Count: 1
Last Updated: Aug 05, 2025
Recent Papers
View All 201 PapersAdvances in the development of PubCaseFinder, including the new application programming interface and matching algorith…
Fujiwara T, Shin JM, Yamaguchi A.
Beacon v2 and Beacon networks: A "lingua franca" for federated data discovery in biomedical genomics, and beyond.
Rambla J, Baudis M, Ariosa R, Beck T, Fromont LA, Navarro A, Paloots R, Rueda M, Saunders G, Singh …
Bioinformatics detection of modulators controlling splicing factor-dependent intron retention in the human brain.
Chen SX, Simpson E, Reiter JL, Liu Y.
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insight…
Goudal A, Karakachoff M, Lindenbaum P, Baron E, Bonnaud S, Kyndt F, Arnaud M, Minois D, Bourcereau …
Clinical exome sequencing-Mistakes and caveats.
Corominas J, Smeekens SP, Nelen MR, Yntema HG, Kamsteeg EJ, Pfundt R, Gilissen C.
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epilep…
Scala M, Wortmann SB, Kaya N, Stellingwerff MD, Pistorio A, Glamuzina E, van Karnebeek CD, Skrypnyk…
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis …
Foreman J, Brent S, Perrett D, Bevan AP, Hunt SE, Cunningham F, Hurles ME, Firth HV.
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.
Janssen BDE, van den Boogaard MH, Lichtenbelt K, Seaby EG, Stals K, Ellard S, Newbury-Ecob R, Dixit…
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.
Scala M, Drouot N, MacLennan SC, Wessels MW, Krygier M, Pavinato L, Telegrafi A, de Man SA, van Sle…
de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project.
Ng JK, Vats P, Fritz-Waters E, Sarkar S, Sams EI, Padhi EM, Payne ZL, Leonard S, West MA, Prince C,…