Anne Maddalena

Technical Standards and Guidelines for Fragile X: The First of a Series of Disease-Specific Supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics

Anne Maddalena, Carolyn Sue Richards, Matthew J. McGinniss et al. · Genetics in Medicine · 2001 · 230 citations · Full text

Genetic Testing, Clinical Genetics Laboratories, Fragile X +10

Hematologically important mutations: X-linked chronic granulomatous disease (third update)

Dirk Roos, Douglas B. Kuhns, Anne Maddalena et al. · Blood Cells Molecules and Diseases · 2010 · 198 citations · Full text

Granulocyte, Genetic Disorder, Hematology +5

Intragenic Deletion of the<i>KALIG-1</i>Gene in Kallmann's Syndrome

David Bick, Brunella Franco, Richard J. Sherins et al. · New England Journal of Medicine · 1992 · 174 citations · Full text

Hearing Loss,10, Genetics, Pathology +19

Standards and Guidelines for CFTR Mutation Testing

Carolyn Sue Richards, Linda Bradley, Jean Amos et al. · Genetics in Medicine · 2002 · 128 citations · Full text

Cftr Mutation Testing, Genetic Testing, Engineering +9

Longitudinal study of cognitive abilities and adaptive behavior levels in fragile X males: A prospective multicenter analysis

Gene S. Fisch, Richard J. Simensen, Jack Tarleton et al. · American Journal of Medical Genetics · 1996 · 94 citations