Ian D. Krantz

Ian D. Krantz

Medical Genetics

225 Community Drive
Suite 110
Great Neck, NY 11020

Last Updated: 09/26/2026

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Found 172 publications

A Scoping Review of Pentalogy of Cantrell: Insights From a Case With IC2 Hypomethylation on Chromosome 11p15 (Beckwith-Wiedemann Syndrome Locus).

A Scoping Review of Pentalogy of Cantrell: Insights From a Case With IC2 Hypomethylation on Chromosome 11p15 (Beckwith-Wiedemann Syndrome Locus).

Journal: American journal of medical genetics. Part A

Published: April 28, 2026

Parent- and Intensivist-Reported Utility for Neonatal Genomic Testing.

Parent- and Intensivist-Reported Utility for Neonatal Genomic Testing.

Journal: JAMA network open

Published: April 08, 2026

Summary of the Inaugural ReNU Hope Conference and Scientific Symposium, July 23-25, 2025, Long Island, New York.

Summary of the Inaugural ReNU Hope Conference and Scientific Symposium, July 23-25, 2025, Long Island, New York.

Journal: American journal of medical genetics. Part A

Published: January 21, 2026

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort.

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort.

Journal: American journal of medical genetics. Part A

Published: October 31, 2025

Mutation type-specific transcriptomic signatures and readthrough therapy rescue in SMC1A-related developmental and epileptic encephalopathy.

Mutation type-specific transcriptomic signatures and readthrough therapy rescue in SMC1A-related developmental and epileptic encephalopathy.

Journal: Epilepsia

Published: October 30, 2025

Expanding the Audiological Phenotype Associated With Activity-Dependent Neuroprotective Protein (ADNP) Syndrome: A Case Report and Literature Review Suggesting a Genotype/Phenotype Correlation.

Expanding the Audiological Phenotype Associated With Activity-Dependent Neuroprotective Protein (ADNP) Syndrome: A Case Report and Literature Review Suggesting a Genotype/Phenotype Correlation.

Journal: American journal of medical genetics. Part A

Published: September 04, 2025

Revisiting the W-Index and Waardenburg Syndrome: A Retrospective Review of Waardenburg Syndrome Diagnoses at a Single Site Hearing Loss Clinic and the Sensitivity, Specificity, and Genotype-Phenotype Correlations of an Elevated W-Index.

Revisiting the W-Index and Waardenburg Syndrome: A Retrospective Review of Waardenburg Syndrome Diagnoses at a Single Site Hearing Loss Clinic and the Sensitivity, Specificity, and Genotype-Phenotype Correlations of an Elevated W-Index.

Journal: American journal of medical genetics. Part A

Published: August 19, 2025

Whole Genome Sequencing Improves the Identification of Pathogenic and Novel Variation in Nonsyndromic Hearing Loss.

Whole Genome Sequencing Improves the Identification of Pathogenic and Novel Variation in Nonsyndromic Hearing Loss.

Journal: Human mutation

Published: June 23, 2025

Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.

Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.

Journal: Genetics in medicine open

Published: June 09, 2025

p300 inhibition delays premature cellular senescence.

p300 inhibition delays premature cellular senescence.

Journal: npj aging

Published: April 28, 2025

A common molecular mechanism underlying Cornelia de Lange and CHOPS syndromes.

A common molecular mechanism underlying Cornelia de Lange and CHOPS syndromes.

Journal: Current biology : CB

Published: November 21, 2024

Genome Instability and Senescence Are Markers of Cornelia de Lange Syndrome Cells.

Genome Instability and Senescence Are Markers of Cornelia de Lange Syndrome Cells.

Journal: Cells

Published: October 29, 2024

Showing 1-12 of 172

Last Updated: 09/26/2026