American Journal of Human Genetics
Journal Abbreviation: AM J HUM GENET
ISSN: 0002-9297
eISSN: 1537-6605
Publisher: Elsevier (Cell Press)
Publications (43)
Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules (2016)
Kochinke K, Zweier C, Nijhof B, Fenckova M, Cizek P, Honti F, Keerthikumar S, et al.
Journal article
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features (2016)
Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Caglayan AO, et al.
Journal article
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy (2015)
Haack TB, Staufner C, Koepke MG, Straub BK, Koelker S, Thiel C, Freisinger P, et al.
Journal article
Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture (2015)
Stuart PE, Nair RP, Tsoi LC, Tejasvi T, Das S, Kang HM, Ellinghaus E, et al.
Journal article
Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression (2015)
Darabi H, Mccue K, Beesley J, Michailidou K, Nord S, Kar S, Humphreys K, et al.
Journal article
Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1 (2015)
Glubb DM, Maranian MJ, Michailidou K, Pooley KA, Meyer KB, Kar S, Carlebur S, et al.
Journal article
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8 (2015)
Boycott KM, Beaulieu CL, Kernohan KD, Gebril OH, Mhanni A, Chudley AE, Redl D, et al.
Journal article
UBE2L3 Polymorphism Amplifies NF-?B Activation and Promotes Plasma Cell Development, Linking Linear Ubiquitination to Multiple Autoimmune Diseases (2015)
Lewis MJ, Vyse S, Shields AM, Böltz S, Gordon PA, Spector TD, Lehner PJ, et al.
Journal article
Chromatin-Remodeling-Factor ARID1B Represses Wnt/?-Catenin Signaling (2015)
Vasileiou G, Ekici AB, Urebe S, Zweier C, Hoyer J, Engels H, Behrens J, et al.
Journal article
A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency (2014)
Buchert R, Tawamie H, Smith C, Uebe S, Innes AM, Al Hallak B, Ekici AB, et al.
Journal article