American Journal of Human Genetics

Journal Abbreviation: AM J HUM GENET
ISSN: 0002-9297
eISSN: 1537-6605
Publisher: Elsevier (Cell Press)

Publications (47)

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Abstract

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features (2017) Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, et al. Journal article Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine (2016) Kurolap A, Armbruster A, Hershkovitz T, Hauf K, Mory A, Paperna T, Hannappel E, et al. Journal article Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation (2016) Ghoussaini M, French JD, Michailidou K, Nord S, Beesley J, Canisus S, Hillman KM, et al. Journal article Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly (2016) Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, et al. Journal article, Erratum 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
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