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Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

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Testimonials Subscriptions Access Resources Library Advisory Board FAQ

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JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

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Swetha Ramadesikan

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Molecular Genetics & Genomic Medicine|July 24, 2025

Three Siblings With an Attenuated Presentation of Perlman Syndrome: A Case Report and Literature ReviewAlayne P Meyer, Daniel C Koboldt, Swetha Ramadesikan, et al.

Clinical Immunology (Orlando, Fla.)|May 11, 2024

A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunityIvana Stojkic, Benjamin T Prince, Hye Sun Kuehn, et al.

American Journal of Medical Genetics. Part A|June 2, 2025

A Splice-Region Variant Causes an Atypical Presentation of GNAS Inactivation DisorderBrandon S Stone, Swetha Ramadesikan, Regan McGinley, et al.

HGG Advances|November 5, 2024

Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndromeSwetha Ramadesikan, Iftekhar A Showpnil, Mohammad Marhabaie, et al.

NPJ Genomic Medicine|December 18, 2024

Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromesIftekhar A Showpnil, Maria E Hernandez Gonzalez, Swetha Ramadesikan, et al.

International Journal of Cancer|October 5, 2019

A novel, safe, fast and efficient treatment for Her2-positive and negative bladder cancer utilizing an EGF-anthrax toxin chimeraSherwin Jack, Kayalvizhi Madhivanan, Swetha Ramadesikan, et al.

Journal of the American Society of Nephrology : JASN|June 7, 2014

Blood kidney injury molecule-1 is a biomarker of acute and chronic kidney injury and predicts progression to ESRD in type I diabetesVenkata S Sabbisetti, Sushrut S Waikar, Daniel J Antoine, et al.

Brain : a Journal of Neurology|July 8, 2022

Cerebral organoids containing an AUTS2 missense variant model microcephalySummer R Fair, Wesley Schwind, Dominic L Julian, et al.

Brain : a Journal of Neurology|December 18, 2025

A functional role for septin-2 in the maintenance of the axon initial segment and in human cognitive developmentLuisa Weiss, Macarena Pavez, Anastasia Labudina, et al.

Biorxiv : the Preprint Server for Biology|April 17, 2026

Somatic variants activating the RAS-MAPK pathway confer susceptibility to hippocampal sclerosis in drug-resistant epilepsyLauren Mashburn-Warren, Ashton Holub, Sahibjot Sran, et al.

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Search research articles

Showing results (11-20 of 20) with videos related to

Sort By:

Pageof 2

You have reached the last page of results.This site can display upto 20 results.

Molecular Genetics & Genomic Medicine|July 24, 2025

Three Siblings With an Attenuated Presentation of Perlman Syndrome: A Case Report and Literature ReviewAlayne P Meyer, Daniel C Koboldt, Swetha Ramadesikan, et al.

Clinical Immunology (Orlando, Fla.)|May 11, 2024

A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunityIvana Stojkic, Benjamin T Prince, Hye Sun Kuehn, et al.

American Journal of Medical Genetics. Part A|June 2, 2025

A Splice-Region Variant Causes an Atypical Presentation of GNAS Inactivation DisorderBrandon S Stone, Swetha Ramadesikan, Regan McGinley, et al.

HGG Advances|November 5, 2024

Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndromeSwetha Ramadesikan, Iftekhar A Showpnil, Mohammad Marhabaie, et al.

NPJ Genomic Medicine|December 18, 2024

Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromesIftekhar A Showpnil, Maria E Hernandez Gonzalez, Swetha Ramadesikan, et al.

International Journal of Cancer|October 5, 2019

A novel, safe, fast and efficient treatment for Her2-positive and negative bladder cancer utilizing an EGF-anthrax toxin chimeraSherwin Jack, Kayalvizhi Madhivanan, Swetha Ramadesikan, et al.

Journal of the American Society of Nephrology : JASN|June 7, 2014

Blood kidney injury molecule-1 is a biomarker of acute and chronic kidney injury and predicts progression to ESRD in type I diabetesVenkata S Sabbisetti, Sushrut S Waikar, Daniel J Antoine, et al.

Brain : a Journal of Neurology|July 8, 2022

Cerebral organoids containing an AUTS2 missense variant model microcephalySummer R Fair, Wesley Schwind, Dominic L Julian, et al.

Brain : a Journal of Neurology|December 18, 2025

A functional role for septin-2 in the maintenance of the axon initial segment and in human cognitive developmentLuisa Weiss, Macarena Pavez, Anastasia Labudina, et al.

Biorxiv : the Preprint Server for Biology|April 17, 2026

Somatic variants activating the RAS-MAPK pathway confer susceptibility to hippocampal sclerosis in drug-resistant epilepsyLauren Mashburn-Warren, Ashton Holub, Sahibjot Sran, et al.

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