Madhulatha Pantrangi

Medical Genetics
622 W 168th St Dept Of
New York, NY 10032

Last Updated: 09/26/2026

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Found 13 publications

Impaired bone matrix turnover with selective small bone fragility in a child with TENT5A-associated osteogenesis imperfecta.

Impaired bone matrix turnover with selective small bone fragility in a child with TENT5A-associated osteogenesis imperfecta.

Journal: JBMR plus
Published: September 30, 2025

The qMini assay identifies an overlooked class of splice variants.

The qMini assay identifies an overlooked class of splice variants.

Journal: medRxiv : the preprint server for health sciences
Published: December 11, 2023

Clinical sequencing of the retinitis pigmentosa gene RPGR in over 1,000 cases of vision loss.

Clinical sequencing of the retinitis pigmentosa gene RPGR in over 1,000 cases of vision loss.

Journal: Molecular vision
Published: August 11, 2023

Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.

Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.

Journal: Human mutation
Published: April 06, 2023

Investigation into the genetics of fetal congenital lymphatic anomalies.

Investigation into the genetics of fetal congenital lymphatic anomalies.

Journal: Prenatal diagnosis
Published: November 19, 2022

Modeling of Effective Antimicrobials to Reduce Staphylococcus aureus Virulence Gene Expression Using a Two-Compartment Hollow Fiber Infection Model.

Modeling of Effective Antimicrobials to Reduce Staphylococcus aureus Virulence Gene Expression Using a Two-Compartment Hollow Fiber Infection Model.

Journal: Toxins
Published: December 18, 2019

A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews.

A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews.

Journal: Human genome variation
Published: May 21, 2019

Virulence factor landscape of a Staphylococcus aureus sequence type 45 strain, MCRF184.

Virulence factor landscape of a Staphylococcus aureus sequence type 45 strain, MCRF184.

Journal: BMC genomics
Published: October 26, 2018

A NOVEL LARGE HOMOZYGOUS DELETION IN THE CELLULAR RETINALDEHYDE-BINDING PROTEIN GENE (RLBP1) IN A PATIENT WITH RETINITIS PUNCTATA ALBESCENS.

A NOVEL LARGE HOMOZYGOUS DELETION IN THE CELLULAR RETINALDEHYDE-BINDING PROTEIN GENE (RLBP1) IN A PATIENT WITH RETINITIS PUNCTATA ALBESCENS.

Journal: Retinal cases & brief reports
Published: August 23, 2017

Regulation of Staphylococcal Superantigen-Like Gene, ssl8, Expression in Staphylococcus aureus strain, RN6390.

Regulation of Staphylococcal Superantigen-Like Gene, ssl8, Expression in Staphylococcus aureus strain, RN6390.

Journal: Clinical medicine & research
Published: January 28, 2014

Elevated serum interleukin-10 at time of hospital admission is predictive of mortality in patients with Staphylococcus aureus bacteremia.

Elevated serum interleukin-10 at time of hospital admission is predictive of mortality in patients with Staphylococcus aureus bacteremia.

Journal: The Journal of infectious diseases
Published: September 12, 2012

Comparative whole-genome mapping to determine Staphylococcus aureus genome size, virulence motifs, and clonality.

Comparative whole-genome mapping to determine Staphylococcus aureus genome size, virulence motifs, and clonality.

Journal: Journal of clinical microbiology
Published: August 24, 2012
Showing 1-12 of 13

Last Updated: 09/26/2026