Minor malformations characteristic of the retinoic acid embryopathy and other birth outcomes in children of women exposed to topical tretinoin during early pregnancy
Development of an audit tool for genetic services
The adult phenotype in Costello syndrome
Detection of genomic rearrangements by DHPLC: A prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements
Maladaptive behaviors and risk factors among the genetic subtypes of Prader–Willi syndrome
PTPN11 mutations play a minor role in isolated congenital heart disease
Risks for severe mental retardation occurring in isolation and with other developmental disabilities
Hair whorls and handedness: Informative phenotypic markers in nonsyndromic cleft lip with or without cleft palate (NS CL/P) cases and their unaffected relatives
Terminal deletion of 6p results in a recognizable phenotype
Characterization of six marker chromosomes by comparative genomic hybridization
The new Wolf–Hirschhorn syndrome critical region (WHSCR-2): A description of a second case
Intrachromosomal triplication for the distal part of chromosome 15q
Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome
A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation
CDG-IL: An infant with a novel mutation in the ALG9 gene and additional phenotypic features
Cerebellar vermis aplasia: Patient report and exclusion of the candidate genes EN2 and ZIC1
Dentatorubral-pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent
Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency
Generalized arterial calcification of infancy: Different clinical courses in two affected siblings
Mosaicism for an FMR1 gene deletion in a fragile X female
Central nervous system malformations in oral-facial-digital syndrome, type 1
Newly recognized overgrowth syndrome with macrosomia, macrocrania, hyperostosis of the cranial vault, mental deficiency, seizures, poor motor control, and orofacial dyspraxia
New case of contiguous gene syndrome at chromosome 8p11.2p12
Update: PGD and Holt-Oram syndrome
Pachygyria and polymicrogyria in 22q11 deletion syndrome
Gonadal mosaicism in severe Pallister–Hall syndrome (Am J Med Genet 124A: 296–302 (2004)
A retrospective family study of childhood medulloblastoma (Am J Med Genet 134A(4): 399–403)
Midline raphé, sternal cleft, and other midline abnormalities: A new dominant syndrome? (Am J Med Genet 135A:9–12)
AJMG reviewers 2004