Anne‐Marie Bisgaard

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

Reinhard Ullmann, Gillian Turner, Maria Kirchhoff et al. · Human Mutation · 2007 · 288 citations

Life Sciences, Genetics, Molecular Genetics +17

Phenotype and 244k array‐CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1‐qter

Maria Kirchhoff, Anne‐Marie Bisgaard, Radka Stoeva et al. · American Journal of Medical Genetics Part A · 2009 · 175 citations

Life Sciences, Genetics, Molecular Genetics +17

Autism and developmental disability caused by <i>KCNQ3</i> gain‐of‐function variants

Tristan T. Sands, Francesco Miceli, Gaëtan Lesca et al. · Annals of Neurology · 2019 · 120 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams–Beuren syndrome regions

Maria Kirchhoff, Anne‐Marie Bisgaard, Thue Bryndorf et al. · European Journal of Medical Genetics · 2006 · 107 citations

Life Sciences, Genetics, Psychiatry +16

A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features

Maria Kirchhoff, Anne‐Marie Bisgaard, Flemming Juul Hansen et al. · European Journal of Medical Genetics · 2007 · 105 citations

Medicine, Genetics, Molecular Genetics +14