InderneelSahaiMD

Medical Genetics • Jamaica Plain, MA

Clinical Biochemical Genetics, Clinical Genetics

Physician

Join to view full profile

Are you Dr. Sahai?

Join over one million U.S. Physicians, Nurse Practitioners and PAs, already on Doximity.

Connect with colleagues in the same hospital or clinic
You already have 36 invites waiting!
Search all U.S. specialist profiles and refer a patient
Read the latest clinical news and earn CME/CEU credits

Claim this profile

Not you? Find your profile

Office
New England Newborn Screening Prg
305 South Street
Jamaica Plain, MA 02130
Phone+1 617-983-6300
Is this information wrong?

Summary

Dr. Inderneel Sahai, MD is a board certified medical geneticist in Jamaica Plain, Massachusetts. He is currently licensed to practice medicine in Massachusetts and Virginia. He is affiliated with Boston Children's Hospital and Massachusetts General Hospital.

Education & Training

Children's Hospital/Harvard Medical SchoolResidency, Medical Genetics and Genomics, 2002 - 2005
Nassau University Medical CenterResidency, Internal Medicine, 1993 - 1996
ArMed Forces Medical College PuneClass of 1990

Certifications & Licensure

MA State Medical License 2002 - 2025
VA State Medical License 1996 - 2008
American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics

Publications & Presentations

PubMed

Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.
Myers, S. M., Rebecca I Torene, Maria J Guillen Sacoto, Francisca Millan, Zhancheng Zhang, Stephen McGee, Matthew Oetjens, Elizabeth Heise, Karen Chong, Richard Sidlow...> ;American Journal of Human Genetics. 2024 Jan 4
A Case of Congenital Disorder of Glycosylation Type 1b Presenting as Hyperinsulinemic Hypoglycemia and Failure to Thrive.
Swati Rani, Inderneel Sahai, Madhusmita Misra> ;JCEM Case Reports. 2023 Sep 1
Atlantoaxial instability associated with ALDH18A1 mutation.
Alexandra T Lucas, Angela E Lin, Andrew Cohen, William Muñoz, Kristopher T Kahle, John H Shin, Karen Buch, Inderneel Sahai, Ryan W Carroll> ;American Journal of Medical Genetics. Part A. 2023 Dec 1
1 citations
Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy.
Jonanlis Ramirez Alcantara, Natalie R Grant, Swathi Sethuram, Amanda Nagy, Catherine Becker, Inderneel Sahai, Takara Stanley, Alyssa Halper, Florian S Eichler> ;The Journal of Clinical Endocrinology and Metabolism. 2023 Oct 18
Hepatic histologic findings in a case of MEGDHEL syndrome due to SERAC1 deficiency.
Lisa Yuen, Inderneel Sahai, Lauren O'Grady, Martin Selig, Melissa Anne Walker, Uzma Shah, Joseph Misdraji> ;American Journal of Medical Genetics. Part A. 2022 Sep 1
12 citations
Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy.
Jaime E. Hale, Basil T. Darras, Kathryn J. Swoboda, Elicia Estrella, Jin Yun Helen Chen, Mary-Alice Abbott, Beverly N. Hay, Binod Kumar, Anne M. Counihan, Jacalyn L. G...> ;International Journal of Neonatal Screening. 2021 May 23
4 citations
Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia.
Yue Huang, Rajesh Sharma, Annette Feigenbaum, Chung Lee, Inderneel Sahai, Rossana Sanchez Russo, Juanita Neira, Susan Sklower Brooks, Kelly E. Jackson, Derek Wong, Ste...> ;Molecular Genetics and Metabolism Reports. 2021 Mar 3
17 citations
Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts
Jaime E. Hale, Craig D. Platt, Francisco A. Bonilla, Beverly N. Hay, John L. Sullivan, Alicia M. Johnston, Mark S. Pasternack, Paul E. Hesterberg, H. Cody Meissner, El...> ;The Journal of Allergy and Clinical Immunology. in Practice. 2021 Feb 16
11 citations
A retrospective study of adult patients with noncirrhotic hyperammonemia.
Andrew B. Stergachis, Kris M. Mogensen, Charbel C. Khoury, Alexander P. Lin, Roy W A Peake, Joshua Baker, Ebrahim Barkoudah, Inderneel Sahai, David A. Sweetser, Gerard...> ;Journal of Inherited Metabolic Disease. 2020 Nov 1
10 citations
The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation
Gerard T. Berry, Elizabeth D. Blume, Ann Wessel, Tajinder P. Singh, Leah Hecht, Deborah Marsden, Inderneel Sahai, Scott A. Elisofon, Michael A. J. Ferguson, Heung Bae ...> ;JIMD Reports. 2020 Apr 8
4 citations
Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy
Eric D. Gaier, Inderneel Sahai, Janey L. Wiggs, Brian McGeeney, Jodi D. Hoffman, Crandall E. Peeler> ;Ophthalmic Genetics. 2019 Nov 2
26 citations
Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.
, , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;American Journal of Medical Genetics. Part A. 2019 Jul 1
1 citations
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H Rodan, Catherine B Nowak, Jessica Douglas, Kathryn J Swobo...> ;Nature Communications. 2019 May 2
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Blok, L. S.,Rousseau, J.,Twist, J.,Ehresmann, S.,Takaku, M.,Venselaar, H.,Rodan, L. H.,Nowak, C. B.,Douglas, J.,Swoboda, K. J.,Steeves, M. A.,Sahai, I.,Stumpel, CTRM.,...> ;Nat Commun. 2019 Feb 17
60 citations
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, Catherine Nowak, Jessica Douglas, Kathryn J. Swobo...> ;Nature Communications. 2018 Nov 5
8 citations
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals
Monica H. Wojcik, Klaas J. Wierenga, Lance H. Rodan, Inderneel Sahai, Sacha Ferdinandusse, Casie A. Genetti, Meghan C. Towne, Roy W A Peake, Philip James, Alan H. Begg...> ;JIMD Reports. 2017 Jul 20
20 citations
Hyperammonemic Encephalopathy Associated With Fibrolamellar Hepatocellular Carcinoma: Case Report, Literature Review, and Proposed Treatment Algorithm
Claudia I. Chapuy, Inderneel Sahai, Rohit Sharma, Andrew X. Zhu, Olga Kozyreva> ;The Oncologist. 2016 Apr 1
52 citations
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
Björn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, Yu Xuan Tan, Mohammed Al Bughaili, Angela E. Lin, Inderneel Sahai, Paulina Bahena, Sara L. Reichert, Abi...> ;American Journal of Human Genetics. 2015 Sep 3
3 citations
Case 27-2014
Inderneel Sahai, Ganeshwaran H. Mochida, Eric F. Grabowski, Paul A. Caruso> ;The New England Journal of Medicine. 2014 Aug 27
6 citations
Changing perspectives in screening for congenital hypothyroidism and congenital adrenal hyperplasia.
Marvin L. Mitchell, Ho-Wen Hsu, Inderneel Sahai> ;Current Opinion in Endocrinology, Diabetes, and Obesity. 2014 Feb 1
11 citations
Newborn Screening for Glutaric Aciduria-II: The New England Experience
Inderneel Sahai, Cheryl Garganta, J. Bailey, Philip James, Harvey L. Levy, Madelena Martin, Edward G. Neilan, Chanika Phornphutkul, David A. Sweetser, Thomas H. Zytkov...> ;JIMD Reports. 2013 Nov 5
47 citations
Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.
Angela E. Lin, Avram Z. Traum, Inderneel Sahai, Kim M. Keppler-Noreuil, Mary K. Kukolich, Margaret P. Adam, Sjirk J. Westra, Heleen H. Arts> ;American Journal of Medical Genetics. Part A. 2013 Nov 1
12 citations
Newborn screening for hepatorenal tyrosinemia-I by tandem mass spectrometry using pooled samples: a four-year summary by the New England newborn screening program
Thomas H. Zytkovicz, Inderneel Sahai, Amii Rush, Adedoyin Odewale, Donna M. Johnson, Eileen F. Fitzgerald, Deborah Britton, Roger B. Eaton> ;Clinical Biochemistry. 2013 May 1
4 citations
Mild fumarase deficiency and a trial of low protein diet
Virginia Kimonis, Jon G. Steller, Inderneel Sahai, Dorothy K. Grange, James D. Shoemaker, B.M. Zelaya, Roseann Mandell, K. Shih, Vivian E. Shih> ;Molecular Genetics and Metabolism. 2012 Sep 1
91 citations
Enhanced interpretation of newborn screening results without analyte cutoff values
Gregg Marquardt, Robert Currier, David M.S. McHugh, Dimitar Gavrilov, Mark J. Magera, Dietrich Matern, Devin Oglesbee, Kimiyo Raymond, Piero Rinaldo, Emily H. Smith, S...> ;Genetics in Medicine. 2012 Jun 29
Join now to see all

Hospital Affiliations

Massachusetts General HospitalBoston, Massachusetts
Boston Children's HospitalBoston, Massachusetts