Gyri Aasland Gradek

Monosomy 8 rescue gave cells with a normal karyotype in a mildly affected man with 46,XY,r(8) mosaicism

Gyri Aasland Gradek, Per Helge Kvistad, Gunnar Houge · European Journal of Medical Genetics · 2005 · 83 citations

Life Sciences, Genetics, Molecular Genetics +16

Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of <i>LRFN5</i> Expression

Diederik R.H. de Bruijn, Anke H.A. van Dijk, Rolph Pfundt et al. · Molecular Syndromology · 2010 · 75 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Registration of Down syndrome in the Medical Birth Registry of Norway: Validity and time trends

Kari Klungsøyr, Rolv T. Lie, Carl Birger van der Hagen et al. · Acta Obstetricia Et Gynecologica Scandinavica · 2008 · 52 citations

Public Health, Genetics, Obstetrics +17

Deleterious de novo variants of X‐linked <i>ZC4H2</i> in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Suzanna G.M. Frints, Friederike Hennig, Roberto Colombo et al. · Human Mutation · 2019 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

Ideke J.C. Lamers, Margot R.F. Reijnders, Hanka Venselaar et al. · The American Journal of Human Genetics · 2017 · 46 citations · Full text

Life Sciences, Genetics, Neuroscience +12