Susanne Morlot
Leibniz University Hannover(DE)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, BRCA gene mutations in cancer, Chromosomal and Genetic Variations, Genomics and Chromatin Dynamics, DNA Repair Mechanisms
Most-Cited Works
- → Dating the Origin of the CCR5-Δ32 AIDS-Resistance Allele by the Coalescence of Haplotypes(1998)524 cited
- → Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations(2006)203 cited
- → A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein Antagonist NOGGIN(2007)151 cited
- → Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice(2014)135 cited
- → DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein–Taybi syndrome (RSTS) and in another patient with incomplete RSTS(2005)116 cited
- → Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci(2010)108 cited
- → Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations(2006)104 cited
- → 8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families(2010)73 cited
- → Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia(2010)69 cited
- → Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management(2012)60 cited