The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
Genome Sequencing in the NICU and PICU is Here to Stay
Neurol 104:e210267, Hoffman,E.P. and Kesari,A., 2024
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Newborn Screening for Fragile X Syndrome
JAMA Neurol 71:355-359, Tassone, F., 2014
Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study
Lancet 380:1674-1682, Rauch, A.,et al, 2012
Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
The Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale
Stroke 43:2871-2876, Pescini, F.,et al, 2012
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
JAMA 291:460-469, Jacquemont,S.,et al, 2004
Practice Parameter:Diagnostic Assessment of the Child with Cerebral Palsy
Neurol 62:851-863, Ashwal,S.,et al, 2004
Few Psychological Consequences of Presymptomatic Testing for Huntington Disease
Lancet 349:4, Bundey,S., 1997
The Clinical Introduction of Genetic Testing for Alzheimer Disease, An Ethical Perspective
JAMA 277:832-836, Post,S.G.,et al, 1997
Apolipoprotein E Genotyping in Alzheimer's Disease
Lancet 347:1091-1095, Tanzi,R.,et al, 1996
Practice Parameter:Genetic Testing Alert
Pract Comm Genet Testing Task Force AAN, Neurol 47:1343-13441996., , 1996
Statement of Use of Apolipoprotein E Testing for Alzheimer Disease
JAMA 274:1627-1629, Farrer,L.A.,et al, 1995
The Neurogenetic Genie:Testing for Huntington's Disease Mutation
Neurol 44:1369-1373, 1533-15361994., Hersch,S.,et al, 1994
Experience with Screening Newborns for Duchenne Muscular Dystrophy in Wales
BMJ 306:357-360, 3491993., Bradley,D.M.,et al, 1993
Molecular Genetic Advances in Fragile X Syndrome
J Pediatr 122:169-185, Tarleton,J.C.&Saul,R.A., 1993
Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
Pediatrics 89:395-400, Hagerman,R.J.,et al, 1992
The Psychological Consequences of Predictive Testing for Huntington's Disease
NEJM 327:1401-1405, 14491992., Wiggins,S.,et al, 1992
Gene Studies in Newborn Males with Duchenne Muscular Dystrophy Detected by Neonatal Screening
Lancet 2:425-427, Greenberg,C.R.,et al, 1988