publication venue for
- 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
- 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
- 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
- Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. 2015
- The genetic basis of congenital hyperinsulinism. 2009
- Referral for cancer genetics consultation: a review and compilation of risk assessment criteria. 2004
- PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 2017