V. Ganesh

发表

The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles

David Haussler, Edward Yang, Eric T. Wong, 2018, Cell reports.

Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

Maria K. Lehtinen, Richard S. Smith, V. Ganesh, 2018, Neuron.

on a Distinctive Subtype of Extracellular Vesicles.

Maria K. Lehtinen, Michael E. Coulter, Haussler, 2018 .

Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy

A. O’Donnell-Luria, L. Kunkel, P. Kang, 2022, Annals of clinical and translational neurology.

A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21

C. Walsh, P. Grant, Y. Shugart, 2003, Neurology.

A form of muscular dystrophy associated with pathogenic variants in JAG2.

T. Siddique, S. Coppens, P. Handford, 2021, American journal of human genetics.

Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus

I. Scheffer, C. Walsh, Y. Shugart, 2004, Brain and Development.

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

C. Walsh, A. Barkovich, S. Tinschert, 2010, American journal of human genetics.

Genomic and functional profiling of human Down syndrome neural progenitors implicates S100B and aquaporin 4 in cell injury.

R. Folkerth, L. Steardo, J. Chesnut, 2008, Human molecular genetics.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Jeffrey M. Weiss, Ryan L. Collins, Jack M. Fu, 2021, medRxiv.

Identification and Characterization of Genes Essential for Human Brain Development

V. Ganesh, 2012 .

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

Athar N. Malik, C. Walsh, L. Zon, 2012, Nature Genetics.

FLNA genomic rearrangements cause periventricular nodular heterotopia

T. Yu, C. V. van Karnebeek, R. Guerrini, 2012, Neurology.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2023, Nature Medicine.

Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

C. Walsh, P. Grant, Y. Shugart, 2004, Nature Genetics.

BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy

Beryl B. Cummings, C. Bönnemann, M. Schwake, 2021, EMBO molecular medicine.

Autosomal recessive form of periventricular heterotopia

C. Walsh, Y. Shugart, S. Berkovic, 2003, Neurology.

Mutations in ARFGEF 2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

C. Walsh, P. Grant, Y. Shugart, 2022 .

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome

C. Walsh, Ming-Hui Chen, S. Robertson, 2005, Neurology.

Transcriptome and Genome Analysis Uncovers a DMD Structural Variant

H. Rehm, A. O’Donnell-Luria, B. Weisburd, 2023, Neurology: Genetics.

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

C. Walsh, A. Barkovich, M. Topcu, 2010, Nature Genetics.

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project

Julius O. B. Jacobsen, Fullerton, Azza, 2023, medRxiv.

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

I. Scheffer, Siddharth Srivastava, B. Bourgeois, 2023, JAMA neurology.

The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles

Maria K. Lehtinen, Michael E. Coulter, D. Haussler, 2018, Cell reports.

UvA-DARE (Digital The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles

Maria K. Lehtinen, Michael E. Coulter, D. Haussler, 2018 .

Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency

U. Shankavaram, A. O’Donnell-Luria, T. Stracker, 2023, medRxiv.

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

S. Tinschert, G. Mochida, J. Partlow, 2010, American journal of human genetics.

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

Jack M. Fu, K. Garimella, A. O’Donnell-Luria, 2023, medRxiv.

A form of muscular dystrophy associated with pathogenic variants in JAG2.

T. Siddique, S. Coppens, P. Handford, 2021, American journal of human genetics.