Human Mutation
Journal Abbreviation: HUM MUTAT
ISSN: 1059-7794
eISSN: 1098-1004
Publisher: Wiley-Blackwell
Publications (20)
A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2 (2023)
Zanti M, O'Mahony DG, Parsons MT, Li H, Dennis J, Aittomäkkiki K, Andrulis IL, et al.
Journal article
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel (2022)
Burdon KP, Graham P, Hadler J, Hulleman JD, Pasutto F, Boese EA, Craig JE, et al.
Journal article
Extending the allelic spectrum at noncoding risk loci of orofacial clefting (2021)
Thieme F, Henschel L, Hammond NL, Ishorst N, Hausen J, Adamson AD, Biedermann A, et al.
Journal article
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability (2021)
Neuser S, Brechmann B, Heimer G, Broesse I, Schubert S, O'Grady L, Zech M, et al.
Journal article
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function (2020)
Rice G, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, et al.
Journal article
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders (2020)
Abdelfattah F, Kariminejad A, Kahlert AK, Morrison PJ, Gumus E, Mathews KD, Darbro BW, et al.
Journal article
A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2 (2019)
Karsak M, Glebov K, Scheffold M, Bajaj T, Kawalia A, Karaca I, Rading S, et al.
Journal article
Assessing predictions of the impact of variants on splicing in CAGI5 (2019)
Mount SM, Avsec Z, Carmel L, Casadio R, Celik MH, Chen K, Cheng J, et al.
Journal article
CAGI 5 splicing challenge: Improved exon skipping and intron retention predictions with MMSplice (2019)
Cheng J, Celik MH, Thi Yen Duong Nguyen , Avsec Z, Gagneur J
Journal article
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification (2019)
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadalo L, Aalfs CM, et al.
Journal article