The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Molecular Genetics in Neurology
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Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
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
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005
What Level of Care for the Neurofibromatoses?
Lancet 353:1114-1116, Huson,S.M., 1999
Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
Neurol 47:1269-1277, Baser,M.E., 1996
Screening for Inborn Errors of Metabolism Associated with Mental Deficiency or Neurologic Disorders or Both
NEJM 274:384, Renuart,A., 1966