T
Tyler Mark Pierson
Researcher at Cedars-Sinai Medical Center
Publications - 52
Citations - 2039
Tyler Mark Pierson is an academic researcher from Cedars-Sinai Medical Center. The author has contributed to research in topics: Exome sequencing & Missense mutation. The author has an hindex of 21, co-authored 47 publications receiving 1632 citations. Previous affiliations of Tyler Mark Pierson include National Institutes of Health & Children's Hospital of Philadelphia.
Papers
More filters
Journal ArticleDOI
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
William A. Gahl,Thomas C. Markello,Camilo Toro,Karin Fuentes Fajardo,Murat Sincan,Fred Gill,Hannah Carlson-Donohoe,Andrea L. Gropman,Andrea L. Gropman,Tyler Mark Pierson,Gretchen Golas,Lynne A. Wolfe,Catherine Groden,Rena A. Godfrey,Michele Nehrebecky,Colleen E. Wahl,Dennis M.D. Landis,Sandra Yang,Anne Madeo,James C. Mullikin,Cornelius F. Boerkoel,Cynthia J. Tifft,David H. Adams +22 more
TL;DR: The National Institutes of Health Undiagnosed Diseases Program addresses an unmet need and may serve as a model for the clinical application of emerging genomic technologies and is providing insights into the characteristics of diseases that remain undiagnose after extensive clinical workup.
Journal ArticleDOI
GRIN2A mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine
Tyler Mark Pierson,Hongjie Yuan,Eric D. Marsh,Karin Fuentes-Fajardo,David R. Adams,Thomas C. Markello,Gretchen Golas,Dimitre R. Simeonov,Conisha Holloman,Anel Tankovic,Manish M. Karamchandani,John M. Schreiber,James C. Mullikin,Cynthia J. Tifft,Camilo Toro,Cornelius F. Boerkoel,Stephen F. Traynelis,William A Gahl +17 more
TL;DR: Techniques of modern translational medicine are employed to identify a disease‐causing mutation, analyze its altered behavior, and screen for therapeutic compounds to treat the proband.
Journal ArticleDOI
Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases
Tyler Mark Pierson,David H. Adams,Florian Bonn,Paola Martinelli,Praveen F. Cherukuri,Jamie K. Teer,Nancy F. Hansen,Pedro Cruz,Robert W. Blakesley,Gretchen Golas,Justin Y. Kwan,Anthony D. Sandler,Karin Fuentes Fajardo,Thomas C. Markello,Cynthia J. Tifft,Craig Blackstone,Elena I. Rugarli,Thomas Langer,Thomas Langer,William A. Gahl,Camilo Toro +20 more
TL;DR: An early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy is reported.
Journal ArticleDOI
Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy
Hongjie Yuan,Kasper B. Hansen,Jing Zhang,Tyler Mark Pierson,Thomas C. Markello,Karin Fuentes Fajardo,Conisha Holloman,Gretchen Golas,David R. Adams,Cornelius F. Boerkoel,William A. Gahl,Stephen F. Traynelis +11 more
TL;DR: Functional analysis of a de novo missense mutation (L812M) in a gene encoding NMDAR subunit GluN2A (GRIN2A) suggests that this mechanism underlies the patient’s epileptic phenotype as well as cerebral atrophy and drives neuronal hyperexcitability.
Journal ArticleDOI
Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.
Benoît Renvoisé,Jaerak Chang,Rajat Singh,Sayuri Yonekawa,Edmond J. FitzGibbon,Ami Mankodi,Adeline Vanderver,Alice B. Schindler,Camilo Toro,William A. Gahl,Don J. Mahuran,Craig Blackstone,Tyler Mark Pierson +12 more
TL;DR: SPG15 and SPG11 are clinically similar, autosomal recessive disorders characterized by progressive spastic paraplegia along with thin corpus callosum, white matter abnormalities, cognitive impairment, and ophthalmologic abnormalities.