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Karen Helene Ørstavik

Observed names: K H Orstavik, K H Örstavik, K H Ørstavik, K Orstavik, K. H. Orstavik, K. H. ØRstavik, K. H. Ørstavik, K. Orstavik, K. Ørstavik, K.H. Örstavik, K.H. Ørstavik, KAREN HELENE ØRSTAVIK, Karen H Ørstavik, Karen H. Orstavik, Karen H. Örstavik, Karen H. Ørstavik, Karen Helene Orstavik, Karen Helene Örstavik, Karen Helene ØRstavik, Karen Helene ørstavik, KarenHelene Ørstavik
Observed institutions: Oslo University Hospital, University of Southern Denmark, Universidade de São Paulo, University of Oslo, Akershus University Hospital, Rigshospitalet, UiT The Arctic University of Norway
OpenAlex ID: A5029946646
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
2003 · Stephen P. Robertson, Stephen R.F. Twigg, et al. · Nature Genetics · 430
Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
2000 · Marina Raffaele di Barletta, Enzo Ricci, et al. · The American Journal of Human Genetics · 415
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Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
1994 · James S. Sutcliffe, Mitsuyoshi Nakao, et al. · Nature Genetics · 415
Another Case of Imprinting Defect in a Girl with Angelman Syndrome Who Was Conceived by Intracytoplasmic Sperm Injection
2003 · K.H. Ørstavik, K. Eiklid, et al. · The American Journal of Human Genetics · 369
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A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis
1998 · Alison J. Ross, Victor Ruiz-Perez, et al. · Nature Genetics · 292
RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity
2007 · Dagan Jenkins, Dominik Seelow, et al. · The American Journal of Human Genetics · 277
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Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III
2001 · H.-J. Lüdecke, J. Schaper, et al. · The American Journal of Human Genetics · 236
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Birth defects in children conceived by ICSI compared with children conceived by other IVF-methods; a meta-analysis
2004 · Rolv T Lie, Anita Lyngstadass, et al. · International Journal of Epidemiology · 232
High Frequency of Skewed X-Chromosome Inactivation in Females with Autoimmune Thyroid Disease: A Possible Explanation for the Female Predisposition to Thyroid Autoimmunity
2005 · Thomas Heiberg Brix, Gun Peggy S. Knudsen, et al. · The Journal of Clinical Endocrinology & Metabolism · 206
15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q
2009 · Katrina Tatton‐Brown, Daniela T. Pilz, et al. · American Journal of Medical Genetics Part A · 130
X chromosome inactivation in clinical practice
2009 · Karen Helene Ørstavik · Human Genetics · 129
X-linked genetic factors regulate hematopoietic stem-cell kinetics in females
2000 · Kaare Christensen, Marianne Kristiansen, et al. · Blood · 121
Twin study of genetic and aging effects on X chromosome inactivation
2005 · Marianne Kristiansen, Gun P S Knudsen, et al. · European Journal of Human Genetics · 112
X Chromosome Inactivation in Carriers of Barth Syndrome
1998 · Karen Helene Ørstavik, Ragnhild E. Ørstavik, et al. · The American Journal of Human Genetics · 74
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An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion
2009 · Helle Lybæk, Karen Helene ørstavik, et al. · European Journal of Human Genetics · 72
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Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother
1999 · S. M. Tanner, K. H. Ørstavik, et al. · Human Genetics · 68
Increased skewing of X chromosome inactivation with age in both blood and buccal cells
2007 · G.P.S. Knudsen, J. Pedersen, et al. · Cytogenetic and Genome Research · 67
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype–phenotype associations in Rett syndrome
2005 · Tony Charman, Tracey C S Neilson, et al. · European Journal of Human Genetics · 59
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Human X-chromosome inactivation pattern distributions fit a model of genetically influenced choice better than models of completely random choice
2013 · Nisa K E Renault, Sonja M Pritchett, et al. · European Journal of Human Genetics · 58
Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers
2006 · Gun Peggy S Knudsen, Tracey C S Neilson, et al. · European Journal of Human Genetics · 58
Novel splicing mutation in the NEMO (IKK‐gamma) gene with severe immunodeficiency and heterogeneity of X‐chromosome inactivation
2005 · Karen Helene Ørstavik, Marianne Kristiansen, et al. · American Journal of Medical Genetics Part A · 55
Skewed X inactivation in healthy individuals and in different diseases
2006 · Karen Helene Ørstavik · Acta Paediatrica · 52
DOCK6Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies
2015 · Maja Sukalo, Felix Tilsen, et al. · Human Mutation · 50
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Electroimmunoassay of factor IX in hemophilia B
1975 · Karen Helene Ørstavik, Bjarne Østerud, et al. · Thrombosis Research · 47
The X Chromosome and the Female Survival Advantage
2001 · KAARE CHRISTENSEN, KAREN HELENE ØRSTAVIK, et al. · Annals of the New York Academy of Sciences · 46
Works count: 111
Citation count: 4,770
H-index: 30
I10-index: 56
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