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Author Details

Lars Allan Larsen
University of Copenhagen
1996
93
30
Emma Lundberg (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36694575The genetic background of hydrocephalus in a population-based cohort: implication of ciliary involvement.Brain Commun2023
35361477Comparison of Outcome in Patients With Familial Versus Spontaneous Atrial Septal Defect.Am J Cardiol2022
35456440MCPH1: A Novel Case Report and a Review of the Literature.Genes (Basel)2022
34547032Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.PLoS Genet2021
33199730RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis.Nat Commun2020
30903111Haploinsufficiency of ARHGAP42 is associated with hypertension.Eur J Hum Genet2019
31625562Model system identification of novel congenital heart disease gene candidates: focus on RPL13.Hum Mol Genet2019
29237719IFT20 modulates ciliary PDGFRα signaling by regulating the stability of Cbl E3 ubiquitin ligases.J Cell Biol2018
30016130Challenges for the Sustainability of University-Run Biobanks.Biopreserv Biobank2018
29934521The E3 ubiquitin ligase SMURF1 regulates cell-fate specification and outflow tract septation during mammalian heart development.Sci Rep2018
29514088CEP128 Localizes to the Subdistal Appendages of the Mother Centriole and Regulates TGF-β/BMP Signaling at the Primary Cilium.Cell Rep2018
29106500Familial co-occurrence of congenital heart defects follows distinct patterns.Eur Heart J2018
27755493Mutation of the Planar Cell Polarity Gene VANGL1 in Adolescent Idiopathic Scoliosis.Spine (Phila Pa 1976)2017
28344781Patient-specific three-dimensional explant spheroids derived from human nasal airway epithelium: a simple methodological approach for ex vivo studies of primary ciliary dyskinesia.Cilia2017
28778786A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family.Eur J Med Genet2017
26957399How Suitable Are Registry Data for Recurrence Risk Calculations? Validation of Diagnoses on 1,593 Families With Congenital Heart Disease.World J Pediatr Congenit Heart Surg2016
26657937A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family.J Hum Genet2016
26679770Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature.Congenit Heart Dis2016
23934094Of mice and men: molecular genetics of congenital heart disease.Cell Mol Life Sci2014
24595665Brain barriers and a subpopulation of astroglial progenitors of developing human forebrain are immunostained for the glycoprotein YKL-40.J Histochem Cytochem2014
24345806Cilia and coordination of signaling networks during heart development.Organogenesis2014
24339137Sequence analysis of 17 NRXN1 deletions.Am J Med Genet B Neuropsychiatr Genet2014
23746451TGF-β signaling is associated with endocytosis at the pocket region of the primary cilium.Cell Rep2013
22140133YKL-40 is differentially expressed in human embryonic stem cells and in cell progeny of the three germ layers.J Histochem Cytochem2012
22904188Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development.Proc Natl Acad Sci U S A2012
22383218Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patients.Am J Med Genet A2012
21241627[Chromosomal changes in congenital heart disease].Ugeskr Laeger2011
20075206Detecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samples.J Mol Diagn2010
20493459Haploinsufficiency of TAB2 causes congenital heart defects in humans.Am J Hum Genet2010
20571530Dissecting spatio-temporal protein networks driving human heart development and related disorders.Mol Syst Biol2010
20126250Recombinant Adeno-Associated Virus-Mediated microRNA Delivery into the Postnatal Mouse Brain Reveals a Role for miR-134 in Dendritogenesis in Vivo.Front Neural Circuits2010
19035361Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives.Hum Mutat2009
20362091Using nucleofection of siRNA constructs for knockdown of primary cilia in P19.CL6 cancer stem cell differentiation into cardiomyocytes.Methods Cell Biol2009
19654211The primary cilium coordinates early cardiogenesis and hedgehog signaling in cardiomyocyte differentiation.J Cell Sci2009
19610119Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24.Am J Med Genet A2009
19508375Genome-wide gene expression profiling of SCID mice with T-cell-mediated Colitis.Scand J Immunol2009
19172993Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development.Eur J Hum Genet2009
19287188Expression analyses of human cleft palate tissue suggest a role for osteopontin and immune related factors in palatal development.Exp Mol Med2009
17998172Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly.Eur J Med Genet2008
19551952Multiplex ligation-dependent probe amplification technique for copy number analysis on small amounts of DNA material.Anal Chem2008
18628311Mapping of 5q35 chromosomal rearrangements within a genomically unstable region.J Med Genet2008
18713793High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.J Med Genet2008
18241033GLI1 is involved in cell cycle regulation and proliferation of NT2 embryonal carcinoma stem cells.DNA Cell Biol2008
17259243A homogeneous assay for analysis of FMR1 promoter methylation in patients with fragile X syndrome.Clin Chem2007
17551083Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2.J Med Genet2007
17545982Single-strand conformation polymorphism analysis using capillary array electrophoresis for large-scale mutation detection.Nat Protoc2007
17712177YKL-40 protein expression in the early developing human musculoskeletal system.J Histochem Cytochem2007
17266934Mutations in the Kv1.5 channel gene KCNA5 in cardiac arrest patients.Biochem Biophys Res Commun2007
16616798Hedgehog signaling in small-cell lung cancer: frequent in vivo but a rare event in vitro.Lung Cancer2006
17253934Screening of 99 Danish patients with congenital heart disease for GATA4 mutations.Genet Test2006
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Collaborators

S??ren T Christensen
University of Copenhagen
Co-authored papers 12
Lotte B Pedersen
University of Copenhagen
Co-authored papers 7
S??ren Brunak
Novo Nordisk Foundation Center for Protein Research, University of Copenhagen
Co-authored papers 5
Kasper Lage
Co-authored papers 4
Thomas Werge
Co-authored papers 3
Christine E Seidman
Brigham and Women's Hospital (Y.K.
Co-authored papers 2
Anders D Børglum
Co-authored papers 2
Steven C Greenway
Co-authored papers 2
Christopher T Workman
Technical University of Denmark
Co-authored papers 2
Canan Doganli
University of Copenhagen
Co-authored papers 2
Loretta Breslin
University of Copenhagen, University of Southern Denmark
Co-authored papers 2
Maren M??nnich
University of Copenhagen
Co-authored papers 2
Jonathan G Seidman
Harvard Medical School
Co-authored papers 2
Amy E Roberts
Boston Children's Hospital, Harvard Medical School
Co-authored papers 2
William T Pu
Boston Children's Hospital, Harvard Medical School
Co-authored papers 2
Jens S Andersen
University of Southern Denmark
Co-authored papers 2
Jonas Bybjerg-Grauholm
Co-authored papers 1
L??on-Charles Tranchevent
University of Luxembourg
Co-authored papers 1
Reiner Siebert
Co-authored papers 1
Anne S Bassett
Institute of Medical Science, University of Toronto
Co-authored papers 1
Nickolas Papadopoulos
Co-authored papers 1
Bernard Keavney
Co-authored papers 1
Christian R Marshall
Co-authored papers 1
Alexandre F R Stewart
Co-authored papers 1
Stefan Geimer
Universitat Bayreuth
Co-authored papers 1
Mark J Daly
Massachusetts General Hospital
Co-authored papers 1
Johanne B Mogensen
University of Copenhagen
Co-authored papers 1
Louise Blinkenkj??r
University of Copenhagen
Co-authored papers 1
Olga Rigina
Center for Biological Sequence Analysis, Technical University of Denmark
Co-authored papers 1
Michaela Rogowski
University of Bayreuth, Universitaetsstrasse 30
Co-authored papers 1
Release 1.2