L
Lisbeth Tranebjærg
Researcher at University of Copenhagen
Publications - 144
Citations - 6707
Lisbeth Tranebjærg is an academic researcher from University of Copenhagen. The author has contributed to research in topics: Hearing loss & Wolfram syndrome. The author has an hindex of 41, co-authored 138 publications receiving 6043 citations. Previous affiliations of Lisbeth Tranebjærg include University Hospital of North Norway & Copenhagen University Hospital.
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Journal ArticleDOI
BMPR2 Haploinsufficiency as the Inherited Molecular Mechanism for Primary Pulmonary Hypertension
Rajiv D. Machado,Michael W. Pauciulo,Jennifer R. Thomson,Kirk B. Lane,Neil V. Morgan,Lisa Wheeler,John A. Phillips,John H. Newman,Denise Williams,Nazzareno Galiè,Alessandra Manes,K. McNeil,Magdi H. Yacoub,Ghada W. Mikhail,Paula Rogers,Paul A. Corris,Marc Humbert,Dian Donnai,G Martensson,Lisbeth Tranebjærg,James E. Loyd,Richard C. Trembath,William C. Nichols +22 more
TL;DR: The molecular spectrum of BMPR2 mutations in 47 additional families with PPH and in three patients with sporadic PPH support the suggestion that haploinsufficiency represents the common molecular mechanism in PPH, and illustrate the considerable heterogeneity of BM PR2 mutations that cause PPH.
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Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics.
Carla G. van El,Martina C. Cornel,Pascal Borry,Ros Hastings,Florence Fellmann,Shirley Hodgson,Heidi Howard,Heidi Howard,Anne Cambon-Thomsen,Anne Cambon-Thomsen,Bartha Maria Knoppers,Hanne Meijers-Heijboer,Hans Scheffer,Lisbeth Tranebjærg,Lisbeth Tranebjærg,Lisbeth Tranebjærg,Wybo Dondorp,Guido de Wert +17 more
TL;DR: Focusing on the clinical diagnostics setting, this paper is intended to contribute to the discussion and the development of guidelines in this fast-moving field, and provide recommendations for health-care professionals.
Journal ArticleDOI
IsK and KvLQT1: Mutation in Either of the Two Subunits of the Slow Component of the Delayed Rectifier Potassium Channel Can Cause Jervell and Lange-Nielsen Syndrome
Jessica Tyson,Lisbeth Tranebjærg,Sue Bellman,Christopher Wren,J F Taylor,Jørn Bathen,Bjørn Aslaksen,Svein Jan Sørland,Ole Lund,Sue Malcolm,Marcus E. Pembrey,Shomi S. Bhattacharya,Maria Bitner-Glindzicz +12 more
TL;DR: Sequencing of the affected boys showed a homozygous mutation, demonstrating that mutation in the IsK gene may be a rare cause of JLNS and that an indistinguishable phenotype can arise from mutations in either of the two interacting molecules.
Journal ArticleDOI
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening
Wybo Dondorp,Guido de Wert,Yvonne Bombard,Diana W. Bianchi,Carsten Bergmann,Pascal Borry,Lyn S. Chitty,Florence Fellmann,Francesca Forzano,Alison Hall,Lidewij Henneman,Heidi Carmen Howard,Anneke Lucassen,Kelly E. Ormond,Borut Peterlin,Dragica Radojkovic,Wolf Rogowski,Maria Soller,Aad Tibben,Lisbeth Tranebjærg,Lisbeth Tranebjærg,Carla G. van El,Martina C. Cornel +22 more
TL;DR: This document argues for a cautious expansion of the scope of prenatal screening to serious congenital and childhood disorders, only following sound validation studies and a comprehensive evaluation of all relevant aspects.
Journal ArticleDOI
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
Susanna Annunen,Jarmo Körkkö,Jarmo Körkkö,Malwina Czarny,Matthew L. Warman,Han G. Brunner,Helena Kääriäinen,John B. Mulliken,Lisbeth Tranebjærg,David G. Brooks,Gerald F. Cox,J. R. M. Cruysberg,Mary Curtis,Sandra L.H. Davenport,Christopher A. Friedrich,Ilkka Kaitila,Maciej R Krawczyński,Anna Latos-Bielenska,Shitzuo Mukai,Bjorn R. Olsen,Nancy Shinno,Mirja Somer,Miikka Vikkula,Joël Zlotogora,Darwin J. Prockop,Leena Ala-Kokko,Leena Ala-Kokko +26 more
TL;DR: Genotypic-phenotypic comparison revealed an association between the Marshall syndrome phenotype and splicing mutations of 54-bp exons in the C-terminal region of the COL11A1 gene, which led to a typical phenotype of Stickler syndrome.