Arupa A. Ganguly

Medical Genetics

3620 Hamilton Walk
415 Anatomy And Chemistry Bldg
Philadelphia, PA 19104

Last Updated: 09/26/2026

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Found 98 publications

High-Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient-Reported Data.

High-Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient-Reported Data.

Journal: American journal of medical genetics. Part A

Published: January 31, 2026

GW240925 and GW250207: Astrophysical Calibration of Gravitational Wave Detectors.

GW240925 and GW250207: Astrophysical Calibration of Gravitational Wave Detectors.

Journal: Physical review letters

Published: January 27, 2026

Somatic Genetic Testing Provides Diagnosis of Verrucous Venous Malformation in an Individual with Discrepant Radiology, Pathology, and Clinical Findings.

Somatic Genetic Testing Provides Diagnosis of Verrucous Venous Malformation in an Individual with Discrepant Radiology, Pathology, and Clinical Findings.

Journal: Journal of vascular anomalies

Published: January 26, 2026

Noncoding Variants in Intron 2 of HK1 Associated With Hyperinsulinism With Variable Clinical Phenotype.

Noncoding Variants in Intron 2 of HK1 Associated With Hyperinsulinism With Variable Clinical Phenotype.

Journal: The Journal of clinical endocrinology and metabolism

Published: October 22, 2025

Determinants of hyperinsulinism severity in children with Beckwith-Wiedemann syndrome.

Determinants of hyperinsulinism severity in children with Beckwith-Wiedemann syndrome.

Journal: The Journal of clinical endocrinology and metabolism

Published: September 25, 2025

Black Hole Spectroscopy and Tests of General Relativity with GW250114.

Black Hole Spectroscopy and Tests of General Relativity with GW250114.

Journal: Physical review letters

Published: September 12, 2025

GW250114: Testing Hawking's Area Law and the Kerr Nature of Black Holes.

GW250114: Testing Hawking's Area Law and the Kerr Nature of Black Holes.

Journal: Physical review letters

Published: August 13, 2025

Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies.

Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies.

Journal: American journal of medical genetics. Part A

Published: May 07, 2025

Metastasis-free survival outcomes of uveal melanoma based on The Cancer Genome Atlas classification in 1585 cases.

Metastasis-free survival outcomes of uveal melanoma based on The Cancer Genome Atlas classification in 1585 cases.

Journal: Canadian journal of ophthalmology. Journal canadien d'ophtalmologie

Published: March 30, 2025

Meta-analysis of uveal melanoma genome-wide association studies identifies novel risk loci and population effect size heterogeneity.

Meta-analysis of uveal melanoma genome-wide association studies identifies novel risk loci and population effect size heterogeneity.

Journal: HGG advances

Published: February 04, 2025

Increasing Paternal Age Associated With Elevated Risk of De Novo Mutations in Offspring Diagnosed With Sporadic Bilateral Retinoblastoma.

Increasing Paternal Age Associated With Elevated Risk of De Novo Mutations in Offspring Diagnosed With Sporadic Bilateral Retinoblastoma.

Journal: Pediatric blood & cancer

Published: December 18, 2024

Case Report: Functional characterization of a missense variant in INSR associated with hypoketotic hypoglycemia.

Case Report: Functional characterization of a missense variant in INSR associated with hypoketotic hypoglycemia.

Journal: Frontiers in pediatrics

Published: September 08, 2024

Showing 1-12 of 98

Last Updated: 09/26/2026