publication venue for
- A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings. 141:1875-1885. 2022
- Identifying gene–gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts. 136:165-178. 2017
- De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. 135:699-705. 2016
- The association of previously reported polymorphisms for microvascular complications in a meta-analysis of diabetic retinopathy. 134:247-257. 2015
- Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes. 134:191-201. 2015
- A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. 131:565-579. 2012
- A large-scale candidate gene association study of age at menarche and age at natural menopause. 128:515-527. 2010
- WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations. 128:103-111. 2010
- Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results. 126:763-778. 2009
- Accelerated decline in lung function in cigarette smokers is associated with TP53/MDM2 polymorphisms. 126:559-565. 2009
- Gene symbol: ARSA.. 120:913. 2007
- Gene symbol: ARSA.. 120:909. 2007
- Variants of the SFTPA1 and SFTPA2 genes and susceptibility to tuberculosis in Ethiopia. 118:752-759. 2006
- SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects. 117:133-142. 2005
- Molecular genetic analysis of severe protein C deficiency.. 106:646-653. 2000
- Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency. 101:135-140. 1997
- Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion. 97:138-144. 1996
- ICF SYNDROME (IMMUNODEFICIENCY, CENTROMERIC INSTABILITY AND FACIAL ANOMALIES) - INVESTIGATION OF HETEROCHROMATIN ABNORMALITIES AND REVIEW OF CLINICAL OUTCOME. 96:411-416. 1995
- Excess of deletions of maternal origin in the DiGeorge/Velo-cardio-facial syndromes. A study of 22 new patients and review of the literature. 96:9-13. 1995
- Linkage analysis of 26 Canadian breast and breast-ovarian cancer families. 95:545-550. 1995
- Filipino ?-thalassemia due to a large deletion: identification of the deletion end points and polymerase chain reaction (PCR)-based diagnosis. 94:530-532. 1994
- 2 DIFFERENT MISSENSE MUTATIONS AT ARG 178 OF THE PROTEIN-C (PROC) GENE CAUSING RECURRENT VENOUS THROMBOSIS. 89:685-686. 1992
- Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis. 89:685-686. 1992
- Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene. 88:586-588. 1992
- A rapid and simple electrophoretic method for the detection of mutations involving small insertion or deletion: application to ?-thalassemia. 87:728-730. 1991
- Identification of complex DNA polymorphisms based on variable number of tandem repeats (VNTR) and restriction site polymorphism. 84:223-227. 1990
- Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37. 82:354-358. 1989
- A complete deletion of the factor IX gene and new TaqI variant in a hemophilia B kindred. 79:273-276. 1988
- Organization and genomic distribution of ?82H? alpha satellite DNA. 78:27-32. 1988
- Detection of novel centromeric polymorphisms associated with alpha satellite DNA from human chromosome 11. 77:151-156. 1987
- A DNA marker closely linked to the factor IX (haemophilia B) gene. 75:381-383. 1987
- Somatic cell hybridization studies on the genetic regulation and allelic mutations in metachromatic leukodystrophy. 61:231-235. 1982