publication venue for
- Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data. 107:175-182. 2020
- Multivariate Genome-wide Association Analysis of a Cytokine Network Reveals Variants with Widespread Immune, Haematological, and Cardiometabolic Pleiotropy. 105:1076-1090. 2019
- Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules. 98:149-164. 2016
- Identifying Genetic Traces of Historical Expansions: Phoenician Footprints in the Mediterranean. 83:633-642. 2008
- The Dawn of Human Matrilineal Diversity. 82:1130-1140. 2008
- An RBMX-like gene selectively expressed in testis and located at 9p24.. 67:196-196. 2000
- Prader-Willi Syndrome Is Caused by Disruption of the SNRPN Gene. 64:70-76. 1999
- MALE SEX DETERMINATION WITHOUT SRY IN A MOLE PROVIDES DETAILS FOR MAMMALIAN SEX DETERMINATION. 57:760-760. 1995
- An amino acid substitution in the pyruvate dehydrogenase E1α gene, affecting mitochondrial import of the precursor protein. 57:772-780. 1995
- Expansion of the CGG repeat in fragile X in the FMR1 gene depends on the sex of the offspring. 57:1408-1413. 1995
- Timing and genetic rapport between growth in skeletal maturity and height around puberty: Similarities and differences between girls and boys. 56:753-759. 1995
- Genotype-phenotype relationships in fragile X syndrome: A family study. 53:1064-1073. 1993
- Fixed and random effects in the variation of the finger ridge count: A study of fragile-X families. 50:1067-1076. 1992
- Fragile-X syndrome: Unique genetics of the heritable unstable element. 50:968-980. 1992
- ESTIMATION OF THE EFFECTS OF FRAGILE-X ON DISTRIBUTIONS OF PHYSICAL AND INTELLECTUAL MEASURES USING A MAXIMUM-LIKELIHOOD SCORING TECHNIQUE. 49:474-474. 1991
- Loss of heterozygosity in a gene coding for a thyroid hormone receptor in lung cancers. 44:282-287. 1989
- HETEROGENEITY OF THE MOLECULAR DEFECT IN ORNITHINE TRANSCARBAMYLASE DEFICIENCY. 34:A52-A52. 1982