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Klaus Wilbrandt Kjaer

Observed names: K W Kjaer, K.W. Kjaer, Kjaer, K.W., Klaus Kjaer, Klaus W Kjaer, Klaus W. Kjaer, Klaus Wilbrandt Kjær
OpenAlex ID: A5111832935
Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression
2008 · Hans Eiberg, Jesper Troelsen, et al. · Human Genetics · 346
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
2005 · Irene A Aligianis, Colin A Johnson, et al. · Nature Genetics · 226
Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2
2009 · Katarina Dathe, Klaus W. Kjaer, et al. · The American Journal of Human Genetics · 159
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Genetic Heterogeneity in Microcornea-Cataract: Five Novel Mutations in CRYAA , CRYGD , and GJA8
2007 · Lars Hansen, Wenliang Yao, et al. · Investigative Ophthalmology & Visual Science · 133
A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein Antagonist NOGGIN
2007 · K. Lehmann, P. Seemann, et al. · The American Journal of Human Genetics · 129
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Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)
2005 · K W Kjaer, L Hansen, et al. · Journal of Medical Genetics · 125
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Precuneus–Prefrontal Activity during Awareness of Visual Verbal Stimuli
2001 · T.W. Kjaer, M. Nowak, et al. · Consciousness and Cognition · 90
Novel Connexin 43 (GJA1) mutation causes oculo–dento–digital dysplasia with curly hair
2004 · Klaus W. Kjaer, Lars Hansen, et al. · American Journal of Medical Genetics Part A · 89
GermlineLEMD3 mutations are rare in sporadic patients with isolated melorheostosis
2006 · Jan Hellemans, Philippe Debeer, et al. · Human Mutation · 84
Branchio–oto–renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses
2007 · Kirsten Marie Sanggaard, Nanna Dahl Rendtorff, et al. · European Journal of Human Genetics · 70
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Brachydactyly type A2 associated with a defect in proGDF5 processing
2008 · Frank Plöger, Petra Seemann, et al. · Human Molecular Genetics · 68
Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome
2014 · S. Lohan, M. Spielmann, et al. · Clinical Genetics · 65
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RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis
2020 · Muhammad Farooq, Louise Lindbæk, et al. · Nature Communications · 59
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Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS
2010 · Muhammad Farooq, Jesper T Troelsen, et al. · European Journal of Human Genetics · 48
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The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46.
2006 · Lars Hansen, Wenliang Yao, et al. · PubMed · 48
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene
2006 · Tuula Rinne, Emanuela Spadoni, et al. · European Journal of Human Genetics · 47
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family
2008 · Kirsten M. Sanggaard, Klaus W. Kjaer, et al. · American Journal of Medical Genetics Part A · 45
Compound heterozygous ASPM mutations in Pakistani MCPH families
2009 · Farooq Muhammad, Shahid Mahmood Baig, et al. · American Journal of Medical Genetics Part A · 38
A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2
2005 · K W Kjaer, H Eiberg, et al. · Journal of Medical Genetics · 38
Limb anomalies: Developmental and evolutionary aspects
2002 · Fiorella Gurrieri, Klaus W. Kjaer, et al. · American Journal of Medical Genetics · 32
HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg
2002 · Klaus Wilbrandt Kjaer, Jess Hedeboe, et al. · American Journal of Medical Genetics · 28
Mapping of hereditary trichilemmal cyst(TRICY1)to chromosome 3p24-p21.2 and exclusion of β-CATENINandMLH1
2005 · Hans Eiberg, Lars Hansen, et al. · American Journal of Medical Genetics Part A · 24
Craniosynostosis‐microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1
2010 · Muhammad Farooq, Shahid Baig, et al. · American Journal of Medical Genetics Part A · 22
CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations
2010 · L. Basel-Vanagaite, M. Pasmanik-Chor, et al. · Molecular Syndromology · 22
A 72‐year‐old Danish puzzle resolved—comparative analysis of phenotypes in families with different‐sized HOXD13 polyalanine expansions
2005 · Klaus W. Kjaer, Lars Hansen, et al. · American Journal of Medical Genetics Part A · 22
Works count: 46
Citation count: 2,226
H-index: 22
I10-index: 32
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