Research Topics
Species | D A GreenbergSummaryAffiliation: Mount Sinai School of Medicine Country: USA Publications
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Detail Information
Publications
Excess of twins among affected sibling pairs with autism: implications for the etiology of autismD A Greenberg
Division of Statistical Genetics, Department of Biostatistics, Columbia University and New York State Psychiatric Institute, New York, NY 10032, USA
Am J Hum Genet 69:1062-7. 2001..Either risk factors (related to twinning or to fetal development) or other factors (genetic or nongenetic) in the parents may contribute to autism...
Determining trait locus position from multipoint analysis: accuracy and power of three different statisticsD A Greenberg
Department of Psychiatry, Mount Sinai School of Medicine, New York, New York 10029, USA
Genet Epidemiol 21:299-314. 2001..For finding linkage to one locus of several contributing to disease expression, assuming the dominant and recessive models with reduced penetrance is a good approximation of the mode of inheritance at that locus...
Reproducibility and complications in gene searches: linkage on chromosome 6, heterogeneity, association, and maternal inheritance in juvenile myoclonic epilepsyD A Greenberg
Mount Sinai School of Medicine, Box 1229, New York, NY 10029, USA
Am J Hum Genet 66:508-16. 2000..These data also suggest that JME may be predominantly maternally inherited and that the HLA-linked form is more likely to occur in families of European origin...
The power to detect linkage in complex disease by means of simple LOD-score analysesD A Greenberg
Departments of Psychiatry and Biomathematics, Mount Sinai Medical Center, New York, NY 10029, USA
Am J Hum Genet 63:870-9. 1998..Thus, a limited set of simple genetic models in LOD-score analysis can work well in testing for linkage...
Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneityJ D Buxbaum
Laboratory of Molecular Neuropsychiatry, Mount Sinai School of Medicine, New York, NY, 10029, USA
Am J Hum Genet 68:1514-20. 2001....
A new Graves disease-susceptibility locus maps to chromosome 20q11.2. International Consortium for the Genetics of Autoimmune Thyroid DiseaseY Tomer
Division of Endocrinology and Metabolism, Department of Medicine, Mount Sinai School of Medicine, New York, USA
Am J Hum Genet 63:1749-56. 1998..There was no evidence for heterogeneity in our sample. In our view, these results indicate strong evidence for linkage and suggest the presence of a major GD-susceptibility gene on chromosome 20q11.2...
Linkage analysis of candidate genes in autoimmune thyroid disease. II. Selected gender-related genes and the X-chromosome. International Consortium for the Genetics of Autoimmune Thyroid DiseaseG Barbesino
Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA
J Clin Endocrinol Metab 83:3290-5. 1998..We found a locus on Xq21.33-22 linked to GD that may help to explain the female predisposition to GD. Confirmation of these data in HT may require study of an extended number of families because of possible heterogeneity...
Mapping the major susceptibility loci for familial Graves' and Hashimoto's diseases: evidence for genetic heterogeneity and gene interactionsY Tomer
Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA
J Clin Endocrinol Metab 84:4656-64. 1999..One of them (GD-2) was fine-mapped to a 1-cM interval...
CTLA-4 and not CD28 is a susceptibility gene for thyroid autoantibody productionY Tomer
Division of Endocrinology and Metabolism, Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA
J Clin Endocrinol Metab 86:1687-93. 2001....
Linkage analysis of candidate genes in autoimmune thyroid disease. III. Detailed analysis of chromosome 14 localizes Graves' disease-1 (GD-1) close to multinodular goiter-1 (MNG-1). International Consortium for the Genetics of Autoimmune Thyroid DiseaseY Tomer
Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA
J Clin Endocrinol Metab 83:4321-7. 1998..These data again suggest the presence of a major Graves' disease susceptibilitygene (GD-1) on chromosome 14q31. This locus is close to the recently identified multinodular goiter-1 locus...
Linkage analysis of candidate genes in autoimmune thyroid disease: 1. Selected immunoregulatory genes. International Consortium for the Genetics of Autoimmune Thyroid DiseaseG Barbesino
Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA
J Clin Endocrinol Metab 83:1580-4. 1998..The lack of linkage for the immunoregulatory genes that were studied indicated, therefore, that they were not major contributors to disease etiology...
Arginine at position 74 of the HLA-DR beta1 chain is associated with Graves' diseaseY Ban
Division of Endocrinology, Diabetes, and Bone Diseases, Department of Medicine, Mount Sinai School of Medicine, New York, NY 10029, USA
Genes Immun 5:203-8. 2004..Our results suggested that structural heterogeneity of the DR beta-chain peptide-binding pocket P4 at residue 74 predispose some at risk individuals to GD...
Analysis of the CTLA-4, CD28, and inducible costimulator (ICOS) genes in autoimmune thyroid diseaseY Ban
Division of Endocrinology, Diabetes, and Bone Diseases, Mount Sinai School of Medicine Box 1055, New York, NY 10029, USA
Genes Immun 4:586-93. 2003..We concluded that: (1) the AITD gene in the 2q33 locus is the CTLA-4 gene and not the CD28 or ICOS genes; and (2) the G allele is associated with decreased function of CTLA-4...
Genome scan of idiopathic generalized epilepsy: evidence for major susceptibility gene and modifying genes influencing the seizure typeM Durner
Department of Psychiatry, Mount Sinai Medical Center, New York, NY 10029, USA
Ann Neurol 49:328-35. 2001..We hypothesize that interactions of different combinations of these loci produce the related heterogeneous phenotypes seen in IGE families...
Using lod scores to detect sex differences in male-female recombination fractionsB Feenstra
Division of Statistical Genetics, Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, N Y, USA
Hum Hered 57:100-8. 2004..This fact is important because often investigators cannot control the proportions of paternally and maternally informative families. In conclusion, it is possible to reliably detect sex differences in recombination fraction...
Further evidence for the increased power of LOD scores compared with nonparametric methodsM Durner
Department of Psychiatry, Mount Sinai Medical Center, New York, USA
Am J Hum Genet 64:281-9. 1999..In the analysis by Dizier et al., segregation analysis led to estimates of dominance parameters that were grossly misspecified for the locus tested in those models in which ASP tests appeared to be more powerful than LOD-score analyses...
Effect of misspecification of gene frequency on the two-point LOD scoreD K Pal
Department of Psychiatry, Mount Sinai Medical Center, New York, NY 10029, USA
Eur J Hum Genet 9:855-9. 2001..1 for a recessive gene, appears to be a reasonable tactic in the majority of realistic situations because underestimating the gene frequency, even when the true gene frequency is high, leads to little penalty in the LOD score...
Magnitude of type I error when single-locus linkage analysis is maximized over models: a simulation studyS E Hodge
Department of Psychiatry, Columbia University, New York, NY 10032, USA
Am J Hum Genet 60:217-27. 1997..By quantifying the increase in significance level (or, correspondingly, the increase in Z), our findings will enable users to rationally assess the advantages versus the disadvantages of mod scores...
Sibling recurrence risk in autoimmune thyroid diseaseR Villanueva
Division of Endocrinology, Diabetes and Bone Diseases, Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA
Thyroid 13:761-4. 2003..9 for AITD, 11.6 for GD, and 28.0 for HT. These results confirm the significant contribution of genetic factors to the development of AITD...
Association between a GABRB3 polymorphism and autismJ D Buxbaum
Laboratory of Molecular Neuropsychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA
Mol Psychiatry 7:311-6. 2002..These findings support a role for genetic variants within the GABA receptor gene complex in 15q11-13 in autistic disorder...
Possible association of juvenile myoclonic epilepsy with HLA-DRw6M Durner
Department of Psychiatry, Mount Sinai Medical Center, New York, New York 10029
Epilepsia 33:814-6. 1992..The highest difference was noted in the frequency of DRw6 (39.5% in patients vs. 22.1% in controls). This weak association is open to question because DRw6 is known to split into DRw13 and DRw14...
Autoimmune thyroid disease susceptibility loci in a large Chinese familyR Villanueva
Division of Endocrinology and Metabolism, Department of Medicine, Mount Sinai School of Medicine, New York, NY 10029, USA
Clin Endocrinol (Oxf) 56:45-51. 2002..The aim of our study was to dissect the genetic predisposition to GD and HT in one large Chinese family with multiple members affected with AITD...
Evidence for association of polycystic ovary syndrome in caucasian women with a marker at the insulin receptor gene locusS Tucci
Division of Endocrinology and Metabolism, Department of Medicine, Mount Sinai School of Medicine, New York, New York, USA
J Clin Endocrinol Metab 86:446-9. 2001..Since insulin stimulates androgen secretion by the ovarian stroma it is likely that INSR function in the ovary is involved in the genetic susceptibility ot PCOS...
