publication venue for
- Parental education accounts for variability in the IQs of probands with Down syndrome: A longitudinal study. 176:29-33. 2018
- A Familial 7q36.3 Duplication Associated with Agenesis of the Corpus Callosum. 167:2201-2208. 2015
- Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria. 161:2321-2326. 2013
- Hypertension inFMR1premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS). 158A:1304-1309. 2012
- Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: Preliminary data suggest an involvement of epigenetic mechanisms. 149A:2306-2310. 2009
- Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome. 149A:837-843. 2009
- Effect of fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis. 122A:13-23. 2003
- Relationship of deficits ofFMR1 gene specific protein with physical phenotype of fragile X males and females in pedigrees: A new perspective. 118A:127-134. 2003
- Application of robust pedigree analysis in studies of complex genotype-phenotype relationships in fragile X syndrome. 107:136-142. 2002
- Melatonin profiles and sleep characteristics in boys with fragile X syndrome: A preliminary study. 95:307-315. 2000
- Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels ofFMR1 messenger RNA. 94:232-236. 2000
- Use of record linkage between a statewide genetics service and a birth defects/congenital malformations register to determine use of genetic counselling services. 72:3-10. 1997
- Fragile X: Clinical associations. 64:413-414. 1996
- Growth in stature in fragile X families: A mixed longitudinal study. 58:249-256. 1995
- Transmitting males and carrier females in fragile X-revisited. 51:392-399. 1994
- Effect of fragile X on physical and intellectual traits estimated by pedigree analysis. 46:415-422. 1993
- Fragile X family with unusual digital and facial abnormalities, cleft lip and palate, and epilepsy. 44:543-550. 1992
- Problems in ascertainment of transmitting males in Martin-Bell syndrome. 41:410-416. 1991
- Multivariate analysis of body shape in fragile X (Martin-Bell) syndrome. 33:200-208. 1989
- Anthropometry in Martin-Bell syndrome. 30:149-164. 1988
- Phenotypic variation in male-transmitted fragile X: Genetic inferences. 27:401-417. 1987