Human Mutation

Journal Abbreviation: HUM MUTAT
ISSN: 1059-7794
eISSN: 1098-1004
Publisher: Wiley-Blackwell

Publications (20)

close-button

Types of publications

Journal article
Unpublished / Preprint

Publication year

From
To

Abstract

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