Prolonged Time Lag to Final Diagnosis of Fragile X Syndrome

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Annemieke J.M.H. Verkerk, Maura Pieretti, James S. Sutcliffe et al. · Cell · 1991 · 3.5K citations

Breakpoint Cluster Region, Fragile X Syndrome, Mendelian Disorder +11

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

G. Bradley Schaefer, Nancy J. Mendelsohn · Genetics in Medicine · 2013 · 526 citations

Neurodevelopmental Disorders, Psychiatry, Autism Spectrum Disorders +13

Clinical Genetic Evaluation of the Child With Mental Retardation or Developmental Delays

John B. Moeschler, Michael Shevell · PEDIATRICS · 2006 · 245 citations

Fragile-X Carrier Screening and the Prevalence of Premutation and Full-Mutation Carriers in Israel

Hagit Toledano‐Alhadef, Lina Basel‐Vanagaite, Nurit Magal et al. · The American Journal of Human Genetics · 2001 · 228 citations · Full text

Genetic Testing, Mendelian Disorder, Genetic Disorder +10

No Change in the Age of Diagnosis for Fragile X Syndrome: Findings From a National Parent Survey

Donald B. Bailey, Melissa Raspa, Ellen Bishop et al. · PEDIATRICS · 2009 · 173 citations