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)
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