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 · 98 citations · Full text

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

Psychiatry, Pediatrics, Abnormal Development +2

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 · 51 citations · Full text

Neurodevelopmental Disorders, Chromatin, Syndromic Autism +11

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 · 43 citations · Full text

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 · 39 citations · Full text

Norwegian Families, Autoimmune Disease, South African +6