Trine Prescott

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

Mariëlle Alders, Benjamin M. Hogan, Evisa Gjini et al. · Nature Genetics · 2009 · 321 citations

Medicine, Genetics, Molecular Genetics +12

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Asbjørg Stray‐Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon et al. · Journal of Allergy and Clinical Immunology · 2016 · 280 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

Tjitske Kleefstra, Jamie M. Kramer, Kornelia Neveling et al. · The American Journal of Human Genetics · 2012 · 271 citations · Full text

Life Sciences, Genetics, Molecular Biology +10

Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development

Michael A. Simpson, Ray C. J. Hsu, Lindsay Keir et al. · The American Journal of Human Genetics · 2007 · 228 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Molecular characterisation of <i>SMARCB1</i> and <i>NF2</i> in familial and sporadic schwannomatosis

Kristin Hadfield, William G. Newman, Naomi L. Bowers et al. · Journal of Medical Genetics · 2008 · 209 citations

Medicine, Genetics, Molecular Genetics +17