Charlotte von der Lippe

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

Stéphanie Moortgat, Siren Berland, Ingvild Aukrust et al. · European Journal of Human Genetics · 2017 · 100 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

15q11.2 microdeletion – Seven new patients with delayed development and/or behavioural problems

Charlotte von der Lippe, Cecilie F. Rustad, Ketil Heimdal et al. · European Journal of Medical Genetics · 2010 · 86 citations

Medicine, Genetics, Pediatrics +14

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Benjamin Cogné, Sophie Ehresmann, Éliane Beauregard‐Lacroix et al. · The American Journal of Human Genetics · 2019 · 55 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Experiences of Being Heterozygous for Fabry Disease: a Qualitative Study

Charlotte von der Lippe, Jan C. Frich, Anna Harris et al. · Journal of Genetic Counseling · 2016 · 44 citations · Full text

Life Sciences, Genetics, Medical Genetics +15

Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families

Thandiswa Ngcungcu, Martin Oti, Jan Cezary Sitek et al. · The American Journal of Human Genetics · 2017 · 40 citations · Full text

Medicine, Dermatology, Genetics +7