publication venue for
- Genetic risk assessment in carrier testing for spinal muscular atrophy.. 110. 2002
- Transmission disequilibrium studies of the serotonin 5-HT2A receptor gene (HTR2A) in autism.. 114. 2002
- Mutation screening and transmission disequilibrium study of ATP10C in autism.. 114. 2002
- Correlation between rare chromosomal abnormalities and prenatal ultrasound findings.. 107. 2002
- Novel and previously reported single-nucleotide polymorphisms in the human 5-HT(1B) receptor gene: no association with cocaine or alcohol abuse or dependence.. 105. 2001
- Physical mapping of the serotonin 5-HT(7) receptor gene (HTR7) to chromosome 10 and pseudogene (HTR7P) to chromosome 12, and testing of linkage disequilibrium between HTR7 and autistic disorder.. 88. 1999
- Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence-based carrier testing for spinal muscular atrophy.. 85. 1999
- Synteny-defined candidate genes for congenital and idiopathic scoliosis.. 83. 1999
- Blepharophimosis: a causally heterogeneous malformation frequently associated with developmental disabilities.. 75. 1998
- Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism.. 68. 1997
- Diagnosis of Fanconi anemia in patients without congenital malformations: an international Fanconi Anemia Registry Study.. 68. 1997
- Intact coding region of the serotonin transporter gene in obsessive-compulsive disorder.. 67. 1996
- Revised diagnostic criteria for the Marfan syndrome.. 62. 1996
- Neuropsychiatry of 18q- syndrome.. 67. 1996
- Structural change in dopamine D2 receptor gene in a patient with neuroleptic malignant syndrome.. 60. 1995
- Association of the apolipoprotein E epsilon 4 allele with clinical subtypes of autopsy-confirmed Alzheimer's disease.. 54. 1994
- Malformations and minor anomalies in non-trisomic, autosomal aneuploidy.. 47. 1993
- DNA linkage analysis and studies of the androgen receptor gene in a large kindred with complete androgen insensitivity.. 36. 1990
- Hyperpigmented lesions of the retinal pigment epithelium in familial adenomatous polyposis.. 31. 1988
- Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus. 1997
- Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics. 1997
- Chromosome 10qter deletion syndrome: a review and report of three new cases. 1989