Publications by authors named "Chris Balak"

16Publications

Congenital myasthenic syndrome caused by a frameshift insertion mutation in .

Neurol Genet 2020 Aug 30;6(4):e468. Epub 2020 Jun 30.

theNeurogenomics Division (S.S., J.K., K.R., N.B., C.B., A.L.S., M.R., R.R., M.D.B., A.M.C., M.J.H, V.N., S.R.), Translational Genomics Research Institute, Center for Rare Childhood Disorders, Phoenix, AZ; Fulgent Genetics (S.P.S.), Temple City, CA; Department of Neurology (P.B.S.), University of California Los Angeles; David Geffen School of Medicine (P.B.S.), Los Angeles; Department of Pathology and Laboratory Medicine (H.L., S.F.N.), University of California, Los Angeles; Department of Human Genetics (H.L., S.F.N.), David Geffen School of Medicine; Department of Neurology (I.S.), Columbia University, Center for Statistical Genetics, New York; Department of Translational Genomics (D.W.C.), University of Southern California, Los Angeles; Providence Sacred Heart Medical Center and Children's Hospital (S.P.Y.), Spokane, WA; Department of Pathology (S.A.M), University of Iowa, Carver College of Medicine; and Neuromuscular Clinic and Research Center (K.S.), Phoenix, AZ.

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http://dx.doi.org/10.1212/NXG.0000000000000468DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357421PMC
August 2020

Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.

Semin Pediatr Neurol 2018 07 16;26:28-32. Epub 2017 Aug 16.

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ; School of Life Sciences, Arizona State University, Tempe, AZ. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2017.08.008DOI Listing
July 2018

Associations of Gene Variants With Superior Memory in SuperAgers.

Front Aging Neurosci 2018 29;10:155. Epub 2018 May 29.

Cognitive Neurology & Alzheimer's Disease Center, Northwestern University Feinberg School of Medicine (NU FSM), Chicago, IL, United States.

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http://dx.doi.org/10.3389/fnagi.2018.00155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987172PMC
May 2018

Functional characterizations of rare variants in X-linked Spinal Muscular Atrophy.

F1000Res 2017 4;6:1636. Epub 2017 Sep 4.

Translational Genomics Research Institute (TGen), Phoenix, Arizona, 85004, USA.

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http://dx.doi.org/10.12688/f1000research.11878.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5615770PMC
September 2017