Williams-Beuren syndrome: a challenge for genotype-phenotype correlations. Human Molecular Genetics 12 Spec No 2: R229-R237, 2003
Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome. Journal of Medical Genetics 40(2): 136-140, 2003
GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region. American Journal of Medical Genetics. Part A 123a(1): 45-59, 2003
Williams syndrome: from genotype through to the cognitive phenotype. American Journal of Medical Genetics 97(2): 164-171, 2001
Genotype and phenotype analysis of two patients with Williams syndrome. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 33(1): 68-70, 2016
Genotype, molecular phenotype, and cognitive phenotype: Correlations in fragile X syndrome. American Journal of Medical Genetics 83(4): 286-295, April 2, 1999
Genotype-phenotype correlation in two sets of monozygotic twins with Williams syndrome. American Journal Of Medical Genetics. 69(1): 107-111, 1997
Social cognition in williams syndrome: genotype/phenotype insights from partial deletion patients. Frontiers in Psychology 3: 168, 2012
Ion channel mechanisms related to sudden cardiac death in phenotype-negative long-QT syndrome genotype-phenotype correlations of the KCNQ1(S349W) mutation. Journal of Cardiovascular Electrophysiology 22(2): 193-200, 2011
Genotype-phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams-Beuren syndrome. Annals of Human Genetics 82(6): 469-476, 2018
Ethylmalonic aciduria/SCAD deficiency There are correlations between genotype and metabolic and enzymatic phenotype, but not between genotype and clinical phenotype. Journal of Inherited Metabolic Disease 25(Suppl. 1): 65, 2002
Genotype Phenotype correlations in Long QT syndrome. Genetics in Medicine 3(3): 269, May-June, 2001
Genotype-phenotype correlations in the Turner syndrome. Hibi, I, Takano, K International Congress Series; Basic and clinical approach to Turner syndrome: 17-25, 1993
Gitelman's syndrome: towards genotype-phenotype correlations?. Pediatric Nephrology 22(3): 326-332, 2006
Genotype-phenotype correlations in Marfan syndrome. Heart 103(22): 1750-1752, 2017