publication venue for
- Variable presentation of Rothmund-Thomson syndrome. 2000
- Spinal muscular atrophy variant with congenital fractures. 1999
- New recessive syndrome characterized by increased chromosomal breakage and several findings which overlap with Fanconi anemia. 1998
- Practical guide to the diagnosis of thalassemia. Council of Regional Networks for Genetic Services (CORN). 1996
- Chromosome instability in ICF syndrome: formation of micronuclei from multibranched chromosomes 1 demonstrated by fluorescence in situ hybridization. 1995
- Duplication and deletion of chromosome band 2(p21p22) resulting from a familial interstitial insertion (2;11)(p21;p15). 1994
- Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome. 1993
- Pentalogy of Cantrell and ectopia cordis, a familial developmental field complex. 1992
- Craniosynostosis and lid anomalies: report of a girl with Michels syndrome. 1990
- Terminal deletions of the long arm of chromosome 7: five new cases. 1990
- Laterality defects in conjoined twins: implications for normal asymmetry in human embryogenesis. 1988
- Autosomal dominant benign neonatal seizures. 1988
- Interstitial deletion of chromosome 2 (p23p25). 1987
- Concurrence of von Willebrand's disease and hemophilia A: implications for carrier detection and prevalence. 1986
- 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
- Physical and genetic mapping of the CDR gene with particular reference to its position with respect to the FRAXA site.. 38. 1991
- 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
- The inheritance of intraerythrocytic sodium level.. 29. 1988
- Familial correlations from genes and shared environment for urine, plasma, and intraerythrocytic sodium.. 27. 1987
- Genetic analysis of sodium-lithium countertransport in 10 hypertension-prone kindreds.. 17. 1984
- Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus. 1997
- Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics. 1997
- Further delineation of the Opitz G/BBB syndrome: report of an infant with complex congenital heart disease and bladder exstrophy, and review of the literature. 1998
- Cardiovascular malformations in Smith-Lemli-Opitz syndrome. 1997
- "C" trigonocephaly syndrome: report of a child with agenesis of the corpus callosum and tetralogy of Fallot, and review. 1995
- Radiological features in Brachmann-de Lange syndrome. 1993
- Chromosome 10qter deletion syndrome: a review and report of three new cases. 1989