Publications by authors named "Ryan Richholt"

18Publications

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

Age-Modulated Associations between , Brain Volume, and Verbal Memory among Healthy Older Adults.

Front Aging Neurosci 2017 10;9:431. Epub 2018 Jan 10.

Cognition and Neuroimaging Laboratory, Department of Psychology, University of Arizona, Tucson, AZ, United States.

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http://dx.doi.org/10.3389/fnagi.2017.00431DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5767716PMC
January 2018

A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.

Am J Hum Genet 2016 05 28;98(5):909-918. Epub 2016 Apr 28.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.1016/j.ajhg.2016.03.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863664PMC
May 2016

Rare Variants in Cardiomyopathy Genes Associated With Stress-Induced Cardiomyopathy.

Neurosurgery 2016 Jun;78(6):835-43

*Division of Neurological Surgery, Barrow Neurological Institute, St. Joseph's Hospital and Medical Center, Phoenix, Arizona; ‡Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona; §Division of Internal Medicine, St. Joseph's Hospital and Medical Center, Phoenix, Arizona.

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http://dx.doi.org/10.1227/NEU.0000000000001152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4871739PMC
June 2016

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.

PLoS One 2015 15;10(7):e0131797. Epub 2015 Jul 15.

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States of America; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0131797PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4503302PMC
April 2016

A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.

Invest Ophthalmol Vis Sci 2015 Jun;56(6):3896-904

Dorrance Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, United States 2Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona, United States.

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http://dx.doi.org/10.1167/iovs.14-16261DOI Listing
June 2015