Publications 2011
- (2011) Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23. Eur Heart J. 2011;32(2): 158-68
- (2011) Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer. Int J Cancer. 2011;128(9): 2063-2074
- (2011) Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome. Eur J Hum Genet. 2011;19(2): 186-93
- (2011) Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma. Eur J Hum Genet. 2011;19(4): 445-51
- (2011) Common genetic variants associated with open-angle glaucoma. Hum Mol Genet. 2011;20(12): 2464-2471
- (2011) Common breast cancer susceptibility loci are associated with triple-negative breast cancer. Cancer Res. 2011;71(19): 6240-9
- (2011) Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Hum Mol Genet. 2011;20(16): 3289-303
- (2011) Regulation of Lysyl Oxidase-like 1 (LOXL1) and Elastin-Related Genes by Pathogenic Factors Associated with Pseudoexfoliation Syndrome. Invest Ophthalmol Vis Sci. 2011;52(11): 8488-95
- (2011) SPOC1 (PHF13) is required for spermatogonial stem cell differentiation and sustained spermatogenesis. J Cell Sci. 2011;124(Pt 18): 3137-48
- (2011) NEK1 mutations cause short-rib polydactyly syndrome type majewski. Am J Hum Genet. 2011;88(1): 106-14
- (2011) The smallest teeth in the world are caused by mutations in the PCNT gene. Am J Med Genet A. 2011;155A(6): 1398-403
- (2011) Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet. 2011;88(6): 788-95
- (2011) Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: a study in Spanish and Italian populations and meta-analysis. Arthritis Rheum. 2011;63(7): 1860-5
- (2011) Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet. 2011;12(): 106
- (2011) Genome-wide copy number profiling using a 100K SNP array reveals novel disease-related genes BORIS and TSHZ1 in juvenile angiofibroma. Int J Oncol. 2011;39(5): 1143-51
- (2011) Cohen syndrome diagnosis using whole genome arrays. J Med Genet. 2011;48(2): 136-40
- (2011) The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. Best Pract Res Clin Endocrinol Metab. 2011;25(1): 131-42
- (2011) Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer. Cancer Epidemiol Biomarkers Prev. 2011;20(10): 2222-31
- (2011) A family with a new elastin gene mutation: broad clinical spectrum, including sudden cardiac death. Cardiol Young. 2011;21(1): 62-5
- (2011) Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice. J Clin Invest. 2011;121(9): 3479-91
- (2011) Genotyping NAT2 with only two SNPs (rs1041983 and rs1801280) outperforms the tagging SNP rs1495741 and is equivalent to the conventional 7-SNP NAT2 genotype. Pharmacogenet Genomics. 2011;21(10): 673-8
- (2011) Estrogen receptor beta rs1271572 polymorphism and invasive ovarian carcinoma risk: pooled analysis within the Ovarian Cancer Association Consortium. PLoS ONE. 2011;6(6): e20703
- (2011) The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet. 2011;48(6): 396-406
- (2011) Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature. 2011;478(7367): 97-102
- (2011) Ucmaa (Grp-2) is required for zebrafish skeletal development. Evidence for a functional role of its glutamate ?-carboxylation. Matrix Biol. 2011;30(7-8): 369-78
- (2011) Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet. 2011;43(1): 20-2
- (2011) Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. Eur J Hum Genet. 2011;19(11): 1161-6
- (2011) Association study of the GRIA1 and CLINT1 (Epsin 4) genes in a German schizophrenia sample. Psychiatr Genet. 2011;21(2): 114
- (2011) Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum. Eur J Med Genet. 2011;54(5): e521-4
- (2011) 7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium. J Med Genet. 2011;48(10): 698-702
- (2011) Genome-wide association study identifies a common variant associated with risk of endometrial cancer. Nat Genet. 2011;43(5): 451-4
- (2011) 7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B). Eur J Med Genet. 2011;54(5): e495-500
- (2011) Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. J Invest Dermatol. 2011;131(5): 1105-9
- (2011) C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development. Neurogenetics. 2011;12(2): 155-63
- (2011) Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature. Eur J Med Genet. 2011;54(3): 256-61
- (2011) The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing. Clin Cancer Res. 2011;17(11): 3742-50
- (2011) Assessment of hepatocyte growth factor in ovarian cancer mortality. Cancer Epidemiol Biomarkers Prev. 2011;20(8): 1638-48
- (2011) Primary diagnosis of Wolfram syndrome in an adult patient--case report and description of a novel pathogenic mutation. J Neurol Sci. 2011;300(1-2): 191-3
- (2011) De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation. Eur J Hum Genet. 2011;19(5): 507-12
- (2011) Complete basal cell carcinoma remission with imiquimod in a patient with nevoid basal cell carcinoma syndrome and associated basal cell carcinoma of the scalp and invasive ductal breast cancer. J Am Acad Dermatol. 2011;64(3): 611-3
- (2011) Functional null mutations in the gonosomal homologue gene TBL1Y associated with sporadic coarctation of the aorta Clin Res Cardiol. 2011;100(9): 860-860
- (2011) A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. Nat Genet. 2011;43(12): 1210-1214
- (2011) Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium. Hum Mol Genet. 2011;20(23): 4693-706
- (2011) Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk. Br J Cancer. 2011;105(12): 1934-9
- (2011) Evaluation of risk loci for schizophrenia derived from genome-wide association studies in a German population. Am J Med Genet B Neuropsychiatr Genet. 2011;156(2): 198-203
- (2011) Tumor necrosis factor promoter polymorphism TNF*-857 is a risk allele for psoriatic arthritis independent of the PSORS1 locus. Arthritis Rheum. 2011;63(12): 3801-6
- (2011) Susceptibility variants on chromosome 7p21.1 suggest HDAC9 as a new candidate gene for male-pattern baldness. Br J Dermatol. 2011;165(6): 1293-302