scispace - formally typeset
O

Oleg A. Shchelochkov

Researcher at University of Iowa Hospitals and Clinics

Publications -  53
Citations -  2655

Oleg A. Shchelochkov is an academic researcher from University of Iowa Hospitals and Clinics. The author has contributed to research in topics: Gene & Newborn screening. The author has an hindex of 27, co-authored 48 publications receiving 2384 citations. Previous affiliations of Oleg A. Shchelochkov include Roy J. and Lucille A. Carver College of Medicine & Baylor College of Medicine.

Papers
More filters
Journal ArticleDOI

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Catherine A. Brownstein, +210 more
- 25 Mar 2014 - 
TL;DR: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases and reveals a general convergence of practices on most elements of the analysis and interpretation process.
Journal ArticleDOI

Increased LIS1 expression affects human and mouse brain development

Weimin Bi, +24 more
- 11 Jan 2009 - 
TL;DR: It is shown that an increase in LIS1 expression in the developing brain results in brain abnormalities in mice and humans, and that increased PAFAH1B1 dosage causes mild brain structural abnormalities, moderate to severe developmental delay and failure to thrive.
Journal ArticleDOI

Requirement of argininosuccinate lyase for systemic nitric oxide production

Ayelet Erez, +25 more
- 01 Dec 2011 - 
TL;DR: It is shown that a hypomorphic mouse model of argininosuccinate lyase (encoded by Asl) deficiency has a distinct phenotype of multiorgan dysfunction and NO deficiency, demonstrating a previously unappreciated role for ASL in NOS function and NO homeostasis.
Journal ArticleDOI

Chromosome 8p23.1 Deletions as a Cause of Complex Congenital Heart Defects and Diaphragmatic Hernia

Margaret J. Wat, +10 more
- 01 Aug 2009 - 
TL;DR: The findings allow us to clearly define the CDH minimal deleted region on chromosome 8p23.1 and suggest that haploinsufficiency of other genes, in addition to GATA4, may play a role in the severe cardiac and diaphragmatic defects associated with 8p 23.1 deletions.
Journal ArticleDOI

Mitochondrial Neurogastrointestinal Encephalopathy Due to Mutations in RRM2B

Aziz Shaibani, +6 more
- 01 Aug 2009 - 
TL;DR: The clinical spectrum of impaired RIR2B function is expanded, the notion of locus homogeneity of MNGIE is challenged, and light is shed on the pathogenesis of conditions involved in the homeostasis of the mitochondrial nucleotide pool.