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American Journal of Human Genetics|February 23, 2010
Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune diseaseNaomi J Lohr, Jean P Molleston, Kevin A Strauss, et al.
Human Mutation|July 30, 2015
Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomaliesCatrina M Loucks, Jillian S Parboosingh, Ranad Shaheen, et al.
Human Mutation|October 16, 2012
A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorderErik G Puffenberger, Robert N Jinks, Heng Wang, et al.
The Journal of Pediatrics|March 13, 2013
Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communitiesThomas W Ferkol, Erik G Puffenberger, Hauw Lie, et al.
Nature Genetics|April 22, 2003
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAATVictoria E H Carlton, Baruch Z Harris, Erik G Puffenberger, et al.
Hepatology (Baltimore, Md.)|September 26, 2019
Crigler-Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic FrontierKevin A Strauss, Charles E Ahlfors, Kyle Soltys, et al.
Molecular Genetics and Metabolism|June 23, 2015
Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiencyKevin A Strauss, Carlos Ferreira, Teodoro Bottiglieri, et al.
Human Molecular Genetics|July 3, 2014
A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorderKevin A Strauss, Sander Markx, Benjamin Georgi, et al.
Brain : a Journal of Neurology|May 25, 2007
Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5Erik G Puffenberger, Kevin A Strauss, Keri E Ramsey, et al.
The Laryngoscope|August 16, 2013
A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humansThierry Morlet, Mindy R Rabinowitz, Liesl R Looney, et al.
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