Sampath Rangasamy

Associate Professor -Research

Translational Genomics Research Institute

United States

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Dr. Sampath Rangasamy is an Associate Professor of Research at the Translational Genomics Research Institute in the United States. His research areas include the genetic basis of neurodevelopmental disorders, genome editing techniques, and the application of advanced sequencing methodologies for inherited diseases. Recent publications feature topics such as expanded carrier screening, the molecular mechanisms behind Rett syndrome, and the development of digital health tools for diabetes management.

Articles (16)

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2024

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2024

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2024

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2023

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2023

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2022

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2022

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2022

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2022

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2021

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2021

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2020

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2020

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2020

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2020

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2020

Collaborators (5)

Sandrine PASSEMARD

Université Paris Cité

FRANCE

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Isabelle Schrauwen

Columbia University

UNITED STATES

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Vinodh Narayanan

Professor

Translational Genomics Research Institute

UNITED STATES

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Ignazio Piras

Research Assistant Professor

Translational Genomics Research Institute

UNITED STATES

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Jessica Lang

Assistant Professor

University of Wisconsin-Madison

UNITED STATES

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Sampath Rangasamy

Research Interests

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Articles (16)

Expanded carrier screening for inherited genetic disease using exome and genome sequencing.

FGF12 copy number variant associated with epileptic encephalopathy.

Nuclease-free precise genome editing corrects MECP2 mutations associated with Rett syndrome.

Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.

Generation of an iPSC line from a Pontocerebellar Hypoplasia 1B patient harboring a homozygous c.395 A > C mutation in EXOSC3 along with a family matched control

eP329: Genome sequencing uncovers molecular cause in a case with epileptic encephalopathy

Progressive cerebellar atrophy caused by heterozygous <i>TECPR2</i> mutations

Design and Testing of a Smartphone Application for Real-Time Tracking of CSII and CGM Site Rotation Compliance in Patients With Type 1 Diabetes.

Okur-Chung neurodevelopmental syndrome-linked CK2α variants have reduced kinase activity.

Improved methods for RNAseq-based alternative splicing analysis.

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

Complex genetic network underlying the convergent of Rett Syndrome like (RTT-L) phenotype in neurodevelopmental disorders

Do Genomic Factors Play a Role in Diabetic Retinopathy?

Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations

Genotypes and Phenotypes: A Search for Influential Genes in Diabetic Retinopathy

Collaborators (5)

Sandrine PASSEMARD

Isabelle Schrauwen

Vinodh Narayanan

Ignazio Piras

Jessica Lang

Make your next move.

Sampath Rangasamy

Research Interests

Explore related searches

Contact this professor

About

Articles (16)

Expanded carrier screening for inherited genetic disease using exome and genome sequencing.

FGF12 copy number variant associated with epileptic encephalopathy.

Nuclease-free precise genome editing corrects MECP2 mutations associated with Rett syndrome.

Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.

Generation of an iPSC line from a Pontocerebellar Hypoplasia 1B patient harboring a homozygous c.395 A &gt; C mutation in EXOSC3 along with a family matched control

eP329: Genome sequencing uncovers molecular cause in a case with epileptic encephalopathy

Progressive cerebellar atrophy caused by heterozygous <i>TECPR2</i> mutations

Design and Testing of a Smartphone Application for Real-Time Tracking of CSII and CGM Site Rotation Compliance in Patients With Type 1 Diabetes.

Okur-Chung neurodevelopmental syndrome-linked CK2α variants have reduced kinase activity.

Improved methods for RNAseq-based alternative splicing analysis.

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

Complex genetic network underlying the convergent of Rett Syndrome like (RTT-L) phenotype in neurodevelopmental disorders

Do Genomic Factors Play a Role in Diabetic Retinopathy?

Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations

Genotypes and Phenotypes: A Search for Influential Genes in Diabetic Retinopathy

Collaborators (5)

Sandrine PASSEMARD

Isabelle Schrauwen

Vinodh Narayanan

Ignazio Piras

Jessica Lang

Make your next move.

Generation of an iPSC line from a Pontocerebellar Hypoplasia 1B patient harboring a homozygous c.395 A > C mutation in EXOSC3 along with a family matched control