Publications by authors named "C Brasch-Andersen"

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Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.
Anneke T Vulto-van Silfhout, Ingrid M Jazet, Suzanne Yzer, Jeroen Pas, Serwet Demirdas, Charlotte Brasch-Andersen

Genet Med· October 2025

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Deep genome sequencing reveals extensive genetic heterogeneity in early human placentas.
Ieva Miceikaite, Christina Fagerberg, Charlotte Brasch-Andersen, Pernille M Torring, Britta Schlott Kristiansen

Nat Commun· August 2025

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Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green

Eur J Hum Genet· September 2024

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Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green

Eur J Hum Genet· September 2024

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Generation of two patient specific GABRD variants and their isogenic controls for modeling epilepsy.
Morad Kamand, Reema Taleb, Methi Wathikthinnakon, Fadumo Abdullahi Mohamed, Said Pasalar Ghazanfari, Charlotte Brasch-Andersen

Stem Cell Res· April 2024

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