Annette S. Feigenbaum

Rady Children's Hospital-San Diego

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Brian H. Robinson

University of Otago

Marie‐Anne Skomorowski

Hospital for Sick Children

David Chitayat

Mount Sinai Hospital

Ton J. deGrauw

Children's Healthcare of Atlanta

Alex V. Levin

Golisano Children's Hospital

Greg Ryan

Mount Sinai Hospital

Jonathan Hellmann

Hospital for Sick Children

Alicia K.J. Chan

University of Alberta

Peter Tang

Cincinnati Children's Hospital Medical Center

Shawn E. McCandless

University of Colorado Denver

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Hospital for Sick Children

University of Toronto

SickKids Foundation

University College London

Stanford University

Great Ormond Street Hospital

Harvard University

Lucile Packard Children's Hospital

The University of Texas Southwestern Medical Center

Boston Children's Hospital

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Screening for Carriers of Tay-Sachs Disease among Ashkenazi Jews

New England Journal of Medicine (1990)

Barbara L. Triggs‐Raine Annette S. Feigenbaum Marvin R. Natowicz Marie‐Anne Skomorowski Sheldon M. Schuster

The prevention of Tay-Sachs disease (GM2 gangliosidosis, type 1) depends on the identification of carriers of the gene for this autosomal recessive disorder. We compared the enzyme-based test widely used in screening for Tay-Sachs disease with a test based on analysis of DNA. We developed methods to detect the three mutations in the HEXA gene that occur with high frequency among Ashkenazi Jews: two mutations cause infantile Tay-Sachs disease, and the third causes the adult-onset form of the disease. DNA segments containing these mutation sites were amplified with the polymerase chain reaction and analyzed for the presence of the mutations.

Tay-Sachs disease

Carrier testing

10.1056/nejm199007053230102

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Citations (120)

MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation

Biochemical and Biophysical Research Communications (2010)

Barbara S. Connolly Annette S. Feigenbaum Brian H. Robinson Anne I. Dipchand David K. Simon

MELAS syndrome

10.1016/j.bbrc.2010.10.060

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Citations (31)