Dr. Inderneel Sahai, MD - University of Massachusetts Medical School - Chief Medical Officer/Training Supervisor

Dr. Inderneel Sahai

MD

University of Massachusetts Medical School

Chief Medical Officer/Training Supervisor

Jamaica Plain, Massachusetts | United States

Main Specialties: Other

Additional Specialties: Metabolic Disorders, Genetics

Dr. Inderneel Sahai, MD - University of Massachusetts Medical School - Chief Medical Officer/Training Supervisor

Dr. Inderneel Sahai

MD

Introduction

Primary Affiliation: University of Massachusetts Medical School - Jamaica Plain, Massachusetts , United States

Specialties:

Additional Specialties:

Publications

18Publications

618Reads

-Profile Views

166PubMed Central Citations

Changing perspectives in screening for congenital hypothyroidism and congenital adrenal hyperplasia.

Curr Opin Endocrinol Diabetes Obes 2014 Feb;21(1):39-44

New England Newborn Screening Program, University of Massachusetts Medical School, Jamaica Plain, Massachusetts, USA.

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http://dx.doi.org/10.1097/MED.0000000000000028DOI Listing
February 2014
3 Reads
3.370 Impact Factor

Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.

Am J Med Genet A 2013 Nov 3;161A(11):2762-76. Epub 2013 Oct 3.

Medical Genetics, MassGeneral Hospital for Children, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.36265DOI Listing
November 2013
44 Reads
8 Citations
2.160 Impact Factor

Newborn screening for hepatorenal tyrosinemia-I by tandem mass spectrometry using pooled samples: a four-year summary by the New England newborn screening program.

Clin Biochem 2013 May 24;46(7-8):681-4. Epub 2013 Feb 24.

New England Newborn Screening Program, University of Massachusetts Medical School, Jamaica Plain, MA 02130, USA.

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http://dx.doi.org/10.1016/j.clinbiochem.2013.02.002DOI Listing
May 2013
20 Reads
4 Citations
2.230 Impact Factor

Enhanced interpretation of newborn screening results without analyte cutoff values.

Authors:
Gregg Marquardt Robert Currier David M S McHugh Dimitar Gavrilov Mark J Magera Dietrich Matern Devin Oglesbee Kimiyo Raymond Piero Rinaldo Emily H Smith Silvia Tortorelli Coleman T Turgeon Fred Lorey Bridget Wilcken Veronica Wiley Lawrence C Greed Barry Lewis François Boemer Roland Schoos Sandrine Marie Marie-Françoise Vincent Yuri Cleverthon Sica Mouseline Torquado Domingos Khalid Al-Thihli Graham Sinclair Osama Y Al-Dirbashi Pranesh Chakraborty Mark Dymerski Cory Porter Adrienne Manning Margretta R Seashore Jonessy Quesada Alejandra Reuben Petr Chrastina Petr Hornik Iman Atef Mandour Sahar Abdel Atty Sharaf Olaf Bodamer Bonifacio Dy Jasmin Torres Roberto Zori David Cheillan Christine Vianey-Saban David Ludvigson Adrya Stembridge Jim Bonham Melanie Downing Yannis Dotsikas Yannis L Loukas Vagelis Papakonstantinou Georgios S A Zacharioudakis Ákos Baráth Eszter Karg Leifur Franzson Jon J Jonsson Nancy N Breen Barbara G Lesko Stanton L Berberich Kimberley Turner Margherita Ruoppolo Emanuela Scolamiero Italo Antonozzi Claudia Carducci Ubaldo Caruso Michela Cassanello Giancarlo la Marca Elisabetta Pasquini Iole Maria Di Gangi Giuseppe Giordano Marta Camilot Francesca Teofoli Shawn M Manos Colleen K Peterson Stephanie K Mayfield Gibson Darrin W Sevier Soo-Youn Lee Hyung-Doo Park Issam Khneisser Phaidra Browning Fizza Gulamali-Majid Michael S Watson Roger B Eaton Inderneel Sahai Consuelo Ruiz Rosario Torres Mary A Seeterlin Eleanor L Stanley Amy Hietala Mark McCann Carlene Campbell Patrick V Hopkins Monique G de Sain-Van der Velden Bert Elvers Mark A Morrissey Sherlykutty Sunny Detlef Knoll Dianne Webster Dianne M Frazier Julie D McClure David E Sesser Sharon A Willis Hugo Rocha Laura Vilarinho Catharine John James Lim S Graham Caldwell Kathy Tomashitis Daisy E Castiñeiras Ramos Jose Angel Cocho de Juan Inmaculada Rueda Fernández Raquel Yahyaoui Macías José María Egea-Mellado Inmaculada González-Gallego Carmen Delgado Pecellin Maria Sierra García-Valdecasas Bermejo Yin-Hsiu Chien Wuh-Liang Hwu Thomas Childs Christine D McKeever Tijen Tanyalcin Mahera Abdulrahman Cecilia Queijo Aída Lemes Tim Davis William Hoffman Mei Baker Gary L Hoffman

Genet Med 2012 Jul 16;14(7):648-55. Epub 2012 Feb 16.

Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA.

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http://dx.doi.org/10.1038/gim.2012.2DOI Listing
July 2012
160 Reads
18 Citations
7.330 Impact Factor

The increased incidence of congenital hypothyroidism: fact or fancy?

Clin Endocrinol (Oxf) 2011 Dec;75(6):806-10

New England Newborn Screening Program, University of Massachusetts Medical School, South St. Jamaica Plain, MA 02130, USA.

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http://dx.doi.org/10.1111/j.1365-2265.2011.04128.xDOI Listing
December 2011
2 Reads
22 Citations
3.460 Impact Factor

Neonatal screening for inborn errors of metabolism using tandem mass spectrometry: experience of the pilot study in Andhra Pradesh, India.

Indian J Pediatr 2011 Aug 17;78(8):953-60. Epub 2011 Mar 17.

New England Newborn Screening Program, University of Massachusetts Medical School, 305 South Street, Jamaica Plain, Boston, MA 02130, USA.

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http://dx.doi.org/10.1007/s12098-011-0398-9DOI Listing
August 2011
8 Reads
3 Citations
0.920 Impact Factor

Case records of the Massachusetts General Hospital. Case 12-2011. A 9-month-old boy with acute liver failure.

N Engl J Med 2011 Apr;364(16):1545-56

Pediatric Service, Massachusetts General Hospital, and Department of Pediatrics, Harvard Medical School, Boston, USA.

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http://dx.doi.org/10.1056/NEJMcpc1013928DOI Listing
April 2011
1 Read
3 Citations
55.873 Impact Factor

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

Authors:
David M S McHugh Cynthia A Cameron Jose E Abdenur Mahera Abdulrahman Ona Adair Shahira Ahmed Al Nuaimi Henrik Åhlman Jennifer J Allen Italo Antonozzi Shaina Archer Sylvia Au Christiane Auray-Blais Mei Baker Fiona Bamforth Kinga Beckmann Gessi Bentz Pino Stanton L Berberich Robert Binard François Boemer Jim Bonham Nancy N Breen Sandra C Bryant Michele Caggana S Graham Caldwell Marta Camilot Carlene Campbell Claudia Carducci Sandra C Bryant Michele Caggana S Graham Caldwell Marta Camilot Carlene Campbell Claudia Carducci Rohit Cariappa Clover Carlisle Ubaldo Caruso Michela Cassanello Ane Miren Castilla Daisy E Castiñeiras Ramos Pranesh Chakraborty Ram Chandrasekar Alfredo Chardon Ramos David Cheillan Yin-Hsiu Chien Thomas A Childs Petr Chrastina Yuri Cleverthon Sica Jose Angel Cocho de Juan Maria Elena Colandre Veronica Cornejo Espinoza Gaetano Corso Robert Currier Denis Cyr Noemi Czuczy Oceania D'Apolito Tim Davis Monique G de Sain-Van der Velden Carmen Delgado Pecellin Iole Maria Di Gangi Cristina Maria Di Stefano Yannis Dotsikas Melanie Downing Stephen M Downs Bonifacio Dy Mark Dymerski Inmaculada Rueda Bert Elvers Roger Eaton Barbara M Eckerd Fatma El Mougy Sarah Eroh Mercedes Espada Catherine Evans Sandy Fawbush Kristel F Fijolek Lawrence Fisher Leifur Franzson Dianne M Frazier Luciana R C Garcia Maria Sierra García-Valdecasas Bermejo Dimitar Gavrilov Rosemarie Gerace Giuseppe Giordano Yolanda González Irazabal Lawrence C Greed Robert Grier Elyse Grycki Xuefan Gu Fizza Gulamali-Majid Arthur F Hagar Lianshu Han W Harry Hannon Christa Haslip Fayza Abdelhamid Hassan Miao He Amy Hietala Leslie Himstedt Gary L Hoffman William Hoffman Philis Hoggatt Patrick V Hopkins David M Hougaard Kerie Hughes Patricia R Hunt Wuh-Liang Hwu June Hynes Isabel Ibarra-González Cindy A Ingham Maria Ivanova Ward B Jacox Catharine John John P Johnson Jón J Jónsson Eszter Karg David Kasper Brenda Klopper Dimitris Katakouzinos Issam Khneisser Detlef Knoll Hirinori Kobayashi Ronald Koneski Viktor Kozich Rasoul Kouapei Dirk Kohlmueller Ivo Kremensky Giancarlo la Marca Marcia Lavochkin Soo-Youn Lee Denis C Lehotay Aida Lemes Joyce Lepage Barbara Lesko Barry Lewis Carol Lim Sharon Linard Martin Lindner Michele A Lloyd-Puryear Fred Lorey Yannis L Loukas Julie Luedtke Neil Maffitt J Fergall Magee Adrienne Manning Shawn Manos Sandrine Marie Sônia Marchezi Hadachi Gregg Marquardt Stephen J Martin Dietrich Matern Stephanie K Mayfield Gibson Philip Mayne Tonya D McCallister Mark McCann Julie McClure James J McGill Christine D McKeever Barbara McNeilly Mark A Morrissey Paraskevi Moutsatsou Eleanor A Mulcahy Dimitris Nikoloudis Bent Norgaard-Pedersen Devin Oglesbee Mariusz Oltarzewski Daniela Ombrone Jelili Ojodu Vagelis Papakonstantinou Sherly Pardo Reoyo Hyung-Doo Park Marzia Pasquali Elisabetta Pasquini Pallavi Patel Kenneth A Pass Colleen Peterson Rolf D Pettersen James J Pitt Sherry Poh Arnold Pollak Cory Porter Philip A Poston Ricky W Price Cecilia Queijo Jonessy Quesada Edward Randell Enzo Ranieri Kimiyo Raymond John E Reddic Alejandra Reuben Charla Ricciardi Piero Rinaldo Jeff D Rivera Alicia Roberts Hugo Rocha Geraldine Roche Cheryl Rochman Greenberg José María Egea Mellado María Jesús Juan-Fita Consuelo Ruiz Margherita Ruoppolo S Lane Rutledge Euijung Ryu Christine Saban Inderneel Sahai Maria Isabel Salazar García-Blanco Pedro Santiago-Borrero Andrea Schenone Roland Schoos Barb Schweitzer Patricia Scott Margretta R Seashore Mary A Seeterlin David E Sesser Darrin W Sevier Scott M Shone Graham Sinclair Victor A Skrinska Eleanor L Stanley Erin T Strovel April L Studinski Jones Sherlykutty Sunny Zoltan Takats Tijen Tanyalcin Francesca Teofoli J Robert Thompson Kathy Tomashitis Mouseline Torquado Domingos Jasmin Torres Rosario Torres Silvia Tortorelli Sandor Turi Kimberley Turner Nick Tzanakos Alf G Valiente Hillary Vallance Marcela Vela-Amieva Laura Vilarinho Ulrika von Döbeln Marie-Francoise Vincent B Chris Vorster Michael S Watson Dianne Webster Sheila Weiss Bridget Wilcken Veronica Wiley Sharon K Williams Sharon A Willis Michael Woontner Katherine Wright Raquel Yahyaoui Seiji Yamaguchi Melissa Yssel Wendy M Zakowicz

Genet Med 2011 Mar;13(3):230-54

Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31820d5e67DOI Listing
March 2011
203 Reads
54 Citations
7.330 Impact Factor

A near-miss: very long chain acyl-CoA dehydrogenase deficiency with normal primary markers in the initial well-timed newborn screening specimen.

J Pediatr 2011 Jan 12;158(1):172; author reply 172-3. Epub 2010 Nov 12.

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http://dx.doi.org/10.1016/j.jpeds.2010.09.026DOI Listing
January 2011
10 Reads
4 Citations
3.790 Impact Factor

Long-term follow-up to ensure quality care of individuals diagnosed with newborn screening conditions: early experience in New England.

Genet Med 2010 Dec;12(12 Suppl):S220-7

New England Newborn Screening Program, University of Massachusetts Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181fe5d37DOI Listing
December 2010
7 Reads
3 Citations
7.330 Impact Factor

Acute liver failure and reversible leukoencephalopathy in a pediatric patient with homocystinuria.

J Pediatr Gastroenterol Nutr 2010 Nov;51(5):668-71

Department of Cardiology, Arkansas Children's Hospital, Little Rock, AR 72202-3591, USA.

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http://dx.doi.org/10.1097/MPG.0b013e3181eb7a1fDOI Listing
November 2010
11 Reads
2.625 Impact Factor

Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency.

J Inherit Metab Dis 2010 Oct 20;33(Suppl 2):S273-81. Epub 2010 May 20.

New England Newborn Screening Program, UMass Medical School, Jamaica Plain, MA 02130, USA.

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http://dx.doi.org/10.1007/s10545-010-9103-9DOI Listing
October 2010
58 Reads
13 Citations
3.370 Impact Factor

Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening.

Mol Genet Metab 2010 Sep 9;101(1):33-9. Epub 2010 Jun 9.

Division of Genetics, Children's Hospital Boston, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.05.007DOI Listing
September 2010
6 Reads
10 Citations
2.625 Impact Factor

Case records of the Massachusetts General Hospital. Case 10-2010. A 37-year-old woman with weakness and a mass in the brain.

N Engl J Med 2010 Apr;362(14):1326-33

Neurosurgical Service, Massachusetts General Hospital, USA.

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http://dx.doi.org/10.1056/NEJMcpc1000960DOI Listing
April 2010
9 Reads
2 Citations
55.873 Impact Factor

Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.

J Pediatr 2009 Dec 29;155(6):888-892.e1. Epub 2009 Jul 29.

Division of Hematology and Oncology, Children's Hospital Boston and Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.jpeds.2009.06.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2858590PMC
December 2009
62 Reads
11 Citations
3.790 Impact Factor

Newborn screening.

Crit Rev Clin Lab Sci 2009 ;46(2):55-82

New England Newborn Screening Program, University of Massachusetts, Jamaica Plains, Boston, MA, USA.

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http://dx.doi.org/10.1080/10408360802485305DOI Listing
April 2009
2 Reads
5 Citations
3.692 Impact Factor

Krabbe disease: severe neonatal presentation with a family history of multiple sclerosis.

J Child Neurol 2005 Oct;20(10):826-8

Division of Genetics and metabolism, Harvard Medical School and Children's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1177/08830738050200100901DOI Listing
October 2005
4 Reads
4 Citations
1.670 Impact Factor

Top co-authors

Roger B Eaton
Roger B Eaton

University of Massachusetts Medical School

6
Carlene Campbell
Carlene Campbell

Mayo Clinic College of Medicine

3
Claudia Carducci
Claudia Carducci

Sapienza Università di Roma

3
Marta Camilot
Marta Camilot

University of Verona

3
Fizza Gulamali-Majid
Fizza Gulamali-Majid

Mayo Clinic College of Medicine

2
Michael S Watson
Michael S Watson

American College of Medical Genetics

2
Issam Khneisser
Issam Khneisser

Mayo Clinic College of Medicine

2
Hyung-Doo Park
Hyung-Doo Park

Sungkyunkwan University School of Medicine

2
Soo-Youn Lee
Soo-Youn Lee

Sungkyunkwan University School of Medicine

2
Eszter Karg
Eszter Karg

University of Szeged

2