American Journal of Human Genetics
Journal Abbreviation: AM J HUM GENET
ISSN: 0002-9297
eISSN: 1537-6605
Publisher: Elsevier (Cell Press)
Publications (47)
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
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems (2014)
Vulto-Van Silfhout AT, Rajamanickam S, Jensik PJ, Vergult S, De Rocker N, Newhall KJ, Raghavan R, et al.
Journal article
Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis (2014)
Mayes MD, Bossini-Castillo L, Gorlova O, Martin JE, Zhou X, Chen WV, Assassi S, et al.
Journal article
De novo mutations in the genome organizer CTCF cause intellectual disability (2013)
Gregor A, Oti M, Kouwenhoven EN, Hoyer J, Sticht H, Ekici AB, Kjaergaard S, et al.
Journal article