Inderneel Sahai

Medical Genetics | Pediatrics

55 Fruit St
Boston, MA 02114

Last Updated: 09/26/2026

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Found 31 publications

De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms.

De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms.

Journal: American journal of human genetics

Published: February 26, 2026

Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study.

Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study.

Journal: Molecular genetics and metabolism

Published: May 31, 2025

Lethal neonatal acidosis: Multiomic investigation of a novel HIBCH variant as the underlying cause.

Lethal neonatal acidosis: Multiomic investigation of a novel HIBCH variant as the underlying cause.

Journal: Molecular genetics and metabolism reports

Published: February 13, 2025

Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.

Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.

Journal: NPJ genomic medicine

Published: September 18, 2024

Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I.

Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I.

Journal: American journal of medical genetics. Part A

Published: September 03, 2024

Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.

Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.

Journal: American journal of human genetics

Published: August 22, 2023

Atlantoaxial instability associated with ALDH18A1 mutation.

Atlantoaxial instability associated with ALDH18A1 mutation.

Journal: American journal of medical genetics. Part A

Published: June 30, 2023

A Case of Congenital Disorder of Glycosylation Type 1b Presenting as Hyperinsulinemic Hypoglycemia and Failure to Thrive.

A Case of Congenital Disorder of Glycosylation Type 1b Presenting as Hyperinsulinemic Hypoglycemia and Failure to Thrive.

Journal: JCEM case reports

Published: June 22, 2023

Is More Effective Newborn Screening for Homocystinuria on the Horizon?

Is More Effective Newborn Screening for Homocystinuria on the Horizon?

Journal: Clinical chemistry

Published: February 13, 2023

Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy.

Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy.

Journal: The Journal of clinical endocrinology and metabolism

Published: February 03, 2023

Hepatic histologic findings in a case of MEGDHEL syndrome due to SERAC1 deficiency.

Hepatic histologic findings in a case of MEGDHEL syndrome due to SERAC1 deficiency.

Journal: American journal of medical genetics. Part A

Published: September 26, 2021

Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy.

Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy.

Journal: International journal of neonatal screening

Published: April 28, 2021

Showing 1-12 of 31

Last Updated: 09/26/2026