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)
A novel human stem cell model for Coffin-Siris syndrome-like syndrome reveals the importance of SOX11 dosage for neuronal differentiation and survival (2019)
Turan S, Börstler T, Kavyanifar A, Loskarn S, Reis A, Winner B, Lie DC
Journal article
Human SPG11 cerebral organoids reveal cortical neurogenesis impairment (2018)
Pérez-Brangulí F, Buchsbaum I, Pozner T, Regensburger M, Fan W, Schray A, Börstler T, et al.
Journal article
Analysis of the human SOX10 mutation Q377X in mice and its implications for genotype-phenotype correlation in SOX10-related human disease. (2018)
Truch K, Arter J, Turnescu T, Weider M, Hartwig A, Tamm ER, Sock E, Wegner M
Journal article
Therapeutic potential of AAV-mediated MMP-3 secretion from corneal endothelium in treating glaucoma (2017)
O'Callaghan J, Crosbie DE, Cassidy PS, Sherwood JM, Flügel-Koch C, Lütjen-Drecoll E, Humphries MM, et al.
Journal article
Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling (2017)
Dand N, Mucha S, Tsoi LC, Mahil SK, Stuart PE, Arnold A, Baurecht H, et al.
Journal article
Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations (2017)
Kosfeld A, Brand F, Weiss AC, Kreuzer M, Goerk M, Martens H, Schubert S, et al.
Journal article
An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression (2016)
Wyszynski A, Hong CC, Lam K, Michailidou K, Lytle C, Yao S, Zhang Y, et al.
Journal article
Prostate cancer risk regions at 8q24 and 17q24 are differentially associated with somatic TMPRSS2:ERG fusion status (2016)
Luedeke M, Rinckleb AE, Fitzgerald LM, Geybels MS, Schleutker J, Eeles RA, Teixeira MR, et al.
Journal article
Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci (2015)
Coetzee SG, Shen HC, Hazelett DJ, Lawrenson K, Kuchenbaecker K, Tyrer J, Rhie SK, et al.
Journal article
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment (2015)
Ahmed I, Buchert R, Zhou M, Jiao X, Mittal K, Sheikh TI, Scheller U, et al.
Journal article