Caroline Scholz

Prevalence of <i>BRCA1/2</i> germline mutations in 21 401 families with breast and ovarian cancer

Karin Kast, Kerstin Rhiem, Barbara Wappenschmidt et al. · Journal of Medical Genetics · 2016 · 217 citations

The identification of pathogenic variants in <i>BRCA1/2</i> negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of <i>FANCM</i> pathogenic variants

Stephanie Schubert, Jana Lisa van Luttikhuizen, Bernd Auber et al. · International Journal of Cancer · 2018 · 86 citations · Full text

Breast Oncology, Genetics, Genetic Epidemiology +16

Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis

Mirjana Gušić, Gudrun Schottmann, René G. Feichtinger et al. · The American Journal of Human Genetics · 2019 · 47 citations · Full text

Allelic Variant, Mendelian Disorder, Genetic Disorder +8

Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis

Carl Friedrich Classen, Vera Riehmer, Christina Landwehr et al. · Human Genetics · 2013 · 24 citations

Mendelian Disorder, Genetic Disorder, Genetics +8

NCAM2 deletion in a boy with macrocephaly and autism: Cause, association or predisposition?

Caroline Scholz, Doris Steinemann, Madeleine Mälzer et al. · European Journal of Medical Genetics · 2016 · 17 citations

Neurobiology Of Disease, Syndromic Autism, Neurological Disorder +7