Susanne Kjærgaard

Serum Levels of Anti-Müllerian Hormone as a Marker of Ovarian Function in 926 Healthy Females from Birth to Adulthood and in 172 Turner Syndrome Patients

Casper P. Hagen, Kaspar Sørensen, Katharina M. Main et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 385 citations · Full text

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Alexander Hoischen, Bregje W.M. van Bon, Benjamín Rodríguez‐Santiago et al. · Nature Genetics · 2011 · 277 citations

Somatic Variant, Autoimmune Disease, Mendelian Disorder +5

Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy

Anne Marie Ottesen, Inger Garn, Nicole Tartaglia et al. · American Journal of Medical Genetics Part A · 2010 · 214 citations · Full text

45,X/46,XY Mosaicism: Phenotypic Characteristics, Growth, and Reproductive Function—A Retrospective Longitudinal Study

Marie Johansen, Casper P. Hagen, Ewa Rajpert‐De Meyts et al. · The Journal of Clinical Endocrinology & Metabolism · 2012 · 193 citations

De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability

Anne Gregor, Martin Oti, Evelyn N. Kouwenhoven et al. · The American Journal of Human Genetics · 2013 · 167 citations · Full text

Genetic Disorder, Genetics, Fragile X Spectrum +5