Susanne Ledig

WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes

Axel Bohring, Thomas Stamm, Christiane Spaich et al. · The American Journal of Human Genetics · 2009 · 227 citations · Full text

Developmental Biology, Mendelian Disorder, Sex-biased Manifestation Pattern +11

Copy Number Variants in Patients with Severe Oligozoospermia and Sertoli-Cell-Only Syndrome

Frank Tüttelmann, Manuela Simoni, Sabine Kliesch et al. · PLoS ONE · 2011 · 149 citations · Full text

Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification

Michael T. Parsons, Emma Tudini, Hongyan Li et al. · Human Mutation · 2019 · 148 citations · Full text

Genetics, Genetic Epidemiology, Pathology +25

Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome

Susanne Ledig, Cordula Schippert, Reiner Strick et al. · Fertility and Sterility · 2010 · 133 citations

Recurrent Aberrations, Medicine, Pathology +1

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

Susanne Ledig, Olaf Hiort, Gerd Scherer et al. · Human Reproduction · 2010 · 108 citations · Full text