Human Molecular Genetics

Journal Abbreviation: HUM MOL GENET
ISSN: 0964-6906
eISSN: 1460-2083
Publisher: Oxford University Press (OUP): Policy B - Oxford Open Option B

Publications (50)

close-button

Types of publications

Journal article
Unpublished / Preprint

Publication year

From
To

Abstract

Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons (2023) Asadollahi R, Delvendahl , Muff R, Tan G, Rodrieguez DG, Turan S, Russo M, et al. Journal article The GBA variant E326K is associated with alpha-synuclein aggregation and lipid droplet accumulation in human cell lines (2023) Smith LJ, Bolsinger MM, Chau KY, Gegg ME, Schapira AH Journal article De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations (2023) Alecu JE, Saffari A, Jordan C, Srivastava S, Blackstone C, Ebrahimi-Fakhari D Journal article Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy (2022) Nagel-Wolfrum K, Fadl BR, Becker MM, Wunderlich KA, Schaefer J, Sturm D, Fritze J, et al. Journal article Genome-wide association study and functional follow-up identify 14q12 as a candidate risk locus for cervical cancer (2022) Ramachandran D, Dennis J, Fachal L, Schurmann P, Bousset K, Huelse F, Mao Q, et al. Journal article De novo missense variants in FBXO11 alter its protein expression and subcellular localization (2022) Gregor A, Meerbrei T, Gerstner T, Toutain A, Lynch SA, Stals K, Maxton C, et al. Journal article, Original article Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation (2021) Schwarz H, Popp B, Airik R, Torabi Sarijalo N, Knaup K, Stoeckert J, Wiech T, et al. Journal article Demonstration of brain region-specific neuronal vulnerability in human iPSC-based model of familial Parkinson's disease (2020) Brazdis RM, Alecu JE, Marsch D, Dahms A, Simmnacher K, Lörentz S, Brendler A, et al. Journal article Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking (2020) Behne R, Teinert J, Wimmer M, D'Amore A, Davies AK, Scarrott JM, Eberhardt K, et al. Journal article The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome (2019) Berner D, Hoja U, Zenkel M, Ross JJ, Uebe S, Paoli D, Frezzotti P, et al. Journal article