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
- Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.. 58. 2020
- Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis.. 56. 2019
- 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
- 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
- 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
- Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome.. 42. 2005
- Unique de novo mutation of BRCA2 in a woman with early onset breast cancer.. 39. 2002
- Heterozygous mutations in the T (brachyury) gene. 2014
- The genetic basis of congenital hyperinsulinism. 2009
- PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 2017
- Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. 2015
- Referral for cancer genetics consultation: a review and compilation of risk assessment criteria. 2004