Trine Prescott

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

Mariëlle Alders, Benjamin M. Hogan, Evisa Gjini et al. · Nature Genetics · 2009 · 317 citations

Ccbe1 Cause, Genetic Epidemiology, Hematology +5

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 · 269 citations · Full text

Primary Immunodeficiency, Mendelian Disorder, Autoimmune Disease +9

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 · 267 citations · Full text

Histone Modifications, Chromatin, Chromatin Structure +9

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 · 225 citations · Full text

Bone Disease, Genetic Disorder, Genetics +9

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 · 204 citations