publication venue for
- Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. 2009
- Schimke immuno-osseous dysplasia: a clinicopathological correlation. 2006
- De novo duplication of the 7q11 leads to q22 region. 1983
- A liveborn case of 49,XXXY, + 18. 1980
- Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.. 58. 2020
- Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.. 52. 2015
- Genetic associations of the interleukin locus at 1q32.1 with clinical outcomes of cutaneous melanoma.. 52. 2015
- Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.. 50. 2013
- A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.. 49. 2012
- Rare variants in XRCC2 as breast cancer susceptibility alleles.. 49. 2012
- Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome.. 49. 2012
- Germline PALB2 mutation analysis in breast-pancreas cancer families.. 48. 2011
- Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers.. 48. 2010
- The revised Ghent nosology for the Marfan syndrome.. 47. 2010
- A common variant in the adiponutrin gene influences liver enzyme values.. 47. 2009
- Classification of BRCA1 missense variants of unknown clinical significance.. 42. 2005
- Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.. 39. 2002
- Heterozygous mutations in the T (brachyury) gene. 2014
- CYLD mutations in familial skin appendage tumours. 2008
- Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation. 2007
- An SNP in protamine 1: a possible genetic cause of male infertility? 2005
- Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome. 2005
- Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families. 2002
- Unique de novo mutation of BRCA2 in a woman with early onset breast cancer. 2002
- Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. 2015
- DCAF4, a novel gene associated with leucocyte telomere length. 2015
- The genetic basis of congenital hyperinsulinism. 2009
- Referral for cancer genetics consultation: a review and compilation of risk assessment criteria. 2004