Bert Bachrach

A Type 1 Diabetes Genetic Risk Score Predicts Progression of Islet Autoimmunity and Development of Type 1 Diabetes in Individuals at Risk

María J. Redondo, Susan Geyer, Andrea K. Steck et al. · Diabetes Care · 2018 · 169 citations · Full text

Life Sciences, Endocrinology, Genetics +17

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Priya S. Kishnani, Jennifer Goldstein, Stephanie Austin et al. · Genetics in Medicine · 2019 · 138 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Impact on Bone of an Estrogen Receptor-α Gene Loss of Function Mutation

Eric P. Smith, Bonny Specker, Bert Bachrach et al. · The Journal of Clinical Endocrinology & Metabolism · 2008 · 83 citations · Full text

Medicine, Endocrinology, Genetics +17

A Novel Point Mutation in Helix 10 of the Human Glucocorticoid Receptor Causes Generalized Glucocorticoid Resistance by Disrupting the Structure of the Ligand-Binding Domain

Bert Bachrach, Darrell E. Hurt, Sonia Gajula et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 61 citations · Full text

Life Sciences, Endocrinology, Molecular Genetics +17

Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: Report of three new mutations

Bert Bachrach, David A. Weinstein, Marju Orho‐Melander et al. · The Journal of Pediatrics · 2002 · 40 citations

Life Sciences, Genetics, Molecular Genetics +16