Ryan Richholt

Ryan Richholt

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Ryan Richholt

Ryan Richholt

Publications by authors named "Ryan Richholt"

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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

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 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

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