T. Pierson

发表

Analysis of DNA sequence variants detected by high‐throughput sequencing

J. Mullikin, D. Adams, M. Sincan, 2012, Human mutation.

GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function

J. Graham, M. Tagliati, T. Pierson, 2017, Journal of Human Genetics.

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

Rena A. Godfrey, Colleen E. Wahl, K. F. Fajardo, 2011, Genetics in Medicine.

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

R. Pfundt, Adam Claridge‐Chang, B. Venkatesh, 2020, Nature Communications.

Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy

J. Graham, K. Mathews, T. Pierson, 2018, Annals of clinical and translational neurology.

Mutation in the sixth immunoglobulin domain of L1CAM is associated with migrational brain anomalies

J. Graham, T. Pierson, Christine Shieh, 2015, Neurology: Genetics.

TUBB4A de novo mutations cause isolated hypomyelination

H. Hakonarson, Yiran Guo, A. Vanderver, 2014, Neurology.

Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

K. F. Fajardo, J. Mullikin, M. Sincan, 2013, Neuromuscular Disorders.

Increased frequency of congenital heart defects in Menkes disease

T. Pierson, S. Kaler, A. Donsante, 2012, Clinical dysmorphology.

FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei

N. Salamon, J. Graham, T. Pierson, 2018, Annals of clinical and translational neurology.

Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules

N. Salamon, N. Sicotte, R. Lewis, 2015, neurogenetics.

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

A. Vanderver, C. Blackstone, T. Pierson, 2014, Annals of clinical and translational neurology.

Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.

C. Blackstone, T. Pierson, Xue-Jun Li, 2014, Human molecular genetics.

Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase.

R. Finkel, T. Pierson, G. Tennekoon, 2013, Molecular genetics and metabolism.

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

K. Nathanson, J. Graham, T. Pierson, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

International retrospective natural history study of LMNA-related congenital muscular dystrophy

E. Mercuri, F. Muntoni, T. Pierson, 2021, Brain communications.

Dihydropyridine receptor ( DHPR ) congenital myopathy

F. Muntoni, T. Pierson, E. Malfatti, 2018 .

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

F. Muntoni, T. Pierson, E. Malfatti, 2017, Acta Neuropathologica.

R. Finkel, T. Pierson, T. Lehky, 2011, Molecular genetics and metabolism.

Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy

R. Finkel, T. Pierson, G. Tennekoon, 2008, Annals of neurology.

Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man

T. Pierson, C. Toro, C. Tifft, 2011, Neuromuscular Disorders.

Regulable Expression of Inhibin A in Wild-Type and Inhibinα Null Mice

B. O’Malley, T. Pierson, M. Matzuk, 2000 .

Regulable expression of inhibin A in wild-type and inhibin alpha null mice.

T. Pierson, M. Matzuk, S. Tsai, 2000, Molecular endocrinology.

Gene Therapy for Inherited Diseases of the Central Nervous System

T. Pierson, J. Wolfe, 2005 .

Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy

J. Parisi, R. Lewis, M. Tagliati, 2015, Neuromuscular Disorders.

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine

Stephen F Traynelis, William A Gahl, David R Adams, 2014, Annals of clinical and translational neurology.

The NuRD complex and macrocephaly associated neurodevelopmental disorders

Juan I. Young, J. Graham, T. Pierson, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Inhibin A is an endocrine stimulator of bone mass and strength.

T. Pierson, L. Suva, Frances L. Swain, 2007, Endocrinology.

VAR‐MD: A tool to analyze whole exome–genome variants in small human pedigrees with mendelian inheritance

Murat Sincan, William A Gahl, David Adams, 2012, Human mutation.

Modeling rare pediatric neurogenetic disorders with IPSCs

T. Pierson, Jaemin Kim, M. G. Otero, 2019, AIMS Cell and Tissue Engineering.

Mifepristone-inducible transgene expression in neural progenitor cells in vitro and in vivo

K. Fischbeck, T. Pierson, B. Shelley, 2016, Gene Therapy.

Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy

T. Pierson, J. Lerner, J. Matsumoto, 2019, Molecular Brain.

Functional Analysis of a De Novo GRIN2A Missense Mutation Associated with Early-onset Epileptic Encephalopathy

D. Adams, T. Pierson, C. Boerkoel, 2014, Nature Communications.

Positive and negative regulation of gene expression in eukaryotic cells with an inducible transcriptional regulator

Y. Wang, J. Xu, T. Pierson, 1997, Gene Therapy.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

H. Mefford, J. Graham, T. Pierson, 2019, Genetics in Medicine.

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Martin W. Breuss, A. Reymond, A. Pagnamenta, 2018, Neuron.

Both gain‐of‐function and loss‐of‐function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox‐Gastaut syndrome

J. Lacaille, F. Dubeau, T. Pierson, 2019, Epilepsia.

Mutations in MAST 1 Caus e Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations Graphical

Martin W. Breuss, A. Reymond, A. Pagnamenta, 2018 .

Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.

A. Vanderver, J. Fish, T. Pierson, 2020, Pediatric neurology.

Mega-Corpus Callosum, Polymicrogyria, and Psychomotor Retardation: Confirmation of a Syndromic Entity

R. Zimmerman, T. Pierson, C. Bönnemann, 2008, Neuropediatrics.

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Juan I. Young, Rebecca C. Spillmann, S. Nelson, 2020, Genetics in Medicine.

SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

J. Rosenfeld, I. Scheffer, S. Nelson, 2019, Human mutation.

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

Anthony Sandler, Nancy F. Hansen, Jamie K. Teer, 2011, PLoS genetics.

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation

T. Pierson, C. Toro, D. Mazza, 2019, Journal of Medical Genetics.

Correction: Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

J. Mullikin, E. Rugarli, N. Hansen, 2013, PLoS Genetics.

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12

Janel O. Johnson, K. Fischbeck, C. Blackstone, 2013, Human mutation.

Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis

Nancy F. Hansen, J. Mullikin, N. Hansen, 2012, Neurology.

gangliosidosis 1 juvenile-onset GM Exome sequencing as a diagnostic tool in a case of undiagnosed

Nancy F. Hansen, K. F. Fajardo, J. Mullikin, 2012 .

TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes

A. Vanderver, R. Schiffmann, T. Pierson, 2017, Human molecular genetics.

Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2

J. Fish, David T. Miller, J. Graham, 2020, Clinical genetics.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype

J. Graham, T. Pierson, S. Lynch, 2022, American journal of medical genetics. Part A.

Functional effects of disease-associated variants reveal that the S1–M1 linker of the NMDA receptor critically controls channel opening

L. Armengol, T. Pierson, P. Sanchez-Lara, 2023, Cellular and Molecular Life Sciences.

Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.

Sikandar G. Khan, R. Schiffmann, S. Merchant, 2013, Brain : a journal of neurology.

Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules

N. Salamon, N. Sicotte, R. Lewis, 2015, neurogenetics.

De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder

M. Bamshad, D. M. Martin, T. Pierson, 2023, HGG advances.

Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration

Murat Sincan, Nancy F. Hansen, William A Gahl, 2011, European Journal of Human Genetics.