Lars Allan Larsen

University of Copenhagen — Denmark

Biochemistry, Genetics and Molecular Biology · Life Sciences

35h-index3.9kcitations129works3.42yr avg
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Research Topics

Congenital heart defects research(33), Congenital Heart Disease Studies(22), Genomic variations and chromosomal abnormalities(18), Genetics and Neurodevelopmental Disorders(17), Cardiac electrophysiology and arrhythmias(15)

Publications129 total

Primary cilia as architects of the neocortex: Roles in brain development, function, and microcephaly
Developmental Cell·2025Open Access
Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in <i>TYR</i>
2025Open Access
A novel <i>GFAP</i> frameshift variant identified in a family with optico-retinal dysplasia and vision impairment
Human Molecular Genetics·2024· 2 citedOpen Access
Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients
Human Genetics·2024· 4 citedOpen Access
Discovery of a novel mutation F184S (c.551T&gt;C) in GATA4 gene causing congenital heart disease in a consanguineous Saudi family
Heliyon·2024· 1 citedOpen Access
TAK1 operates at the primary cilium in non-canonical TGFB/BMP signaling to control heart development
2024· 5 citedOpen Access
TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant
European Journal of Medical Genetics·2024· 13 citedOpen Access
Pericardial delta like non‐canonical NOTCH ligand 1 (Dlk1) augments fibrosis in the heart through epithelial to mesenchymal transition
Clinical and Translational Medicine·2024· 5 citedOpen Access
Human Genetics of Atrial Septal Defect
Advances in experimental medicine and biology·2024· 1 cited
Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study
2023· 4 citedOpen Access
Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients
2023Open Access
The genetic background of hydrocephalus in a population-based cohort: implication of ciliary involvement
Brain Communications·2022· 8 citedOpen Access
Loss of <i>GFAP</i> causes optico-retinal dysplasia and vision impairment
2022Open Access
The genetic background of hydrocephalus in a population-based cohort: implication of ciliary involvement
2022Open Access
MCPH1: A Novel Case Report and a Review of the Literature
Genes·2022· 7 citedOpen Access
Comparison of Outcome in Patients With Familial Versus Spontaneous Atrial Septal Defect
The American Journal of Cardiology·2022· 3 citedOpen Access
Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease
PLoS Genetics·2021· 1 citedOpen Access
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease
PLoS Genetics·2021· 35 citedOpen Access
Mutation burden in patients with small unrepaired atrial septal defects
International Journal of Cardiology Congenital Heart Disease·2021· 7 citedOpen Access
RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis
Nature Communications·2020· 56 citedOpen Access
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Frequent Co-authors

Paal Skytt Andersen(21), Michael Christiansen(18), Niels Tommerup(13), Jens Vuust(13), Kjeld Møllgård(8), Søren T. Christensen(7), Zeynep Tümer(7), Jørgen K. Kanters(7), Lotte B. Pedersen(6), Søren Brunak(5), Ole Havndrup(4), Henning Bundgaard(4), Keld Kjeldsen(4), Kasper Lage(3), Jill A. Rosenfeld(3), Litu Zhang(3), Bernard Thienpont(3), Alex V. Postma(3), Jeroen Breckpot(3), Sabrina Gade Ellesøe(3)