Lisbeth Tranebjaerg

Affiliations

The Kennedy Center, Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.

Publications (5)

Long-Read Sequencing to Unravel Complex Structural Variants of

Frontiers in cell and developmental biology

Avec: Giulia Ascari , Nanna D Rendtorff , Marieke De Bruyne , Julie De Zaeytijd , Michel Van Lint , Miriam Bauwens , Mattias Van Heetvelde , Gavin Arno , Julie Jacob , David Creytens , Jo Van Dorpe , Thalia Van Laethem , Toon Rosseel , Tim De Pooter , Peter De Rijk , Wouter De Coster , Björn Menten , Alfredo Dueñas Rey , Mojca Strazisar , Mette Bertelsen , Lisbeth Tranebjaerg , Elfride De Baere

Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA.

The Laryngoscope

Avec: Kristianna Mey , Ali A Muhamad , Lisbeth Tranebjaerg , Nanna D Rendtorff , Stig H Rasmussen , Michael Bille , Per Cayé-Thomasen

Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21.

Molecular genetics & genomic medicine

Avec: Maria Chiara Pelleri , Elena Cicchini , Michael B Petersen , Lisbeth Tranebjaerg , Teresa Mattina , Pamela Magini , Francesca Antonaros , Maria Caracausi , Lorenza Vitale , Chiara Locatelli , Marco Seri , Pierluigi Strippoli , Allison Piovesan , Guido Cocchi

Lessons learned from 40 novel PIGA patients and a review of the literature.

Epilepsia

Avec: Allan Bayat , Alexej Knaus , Manuela Pendziwiat , Alexandra Afenjar , Tahsin Stefan Barakat , Friedrich Bosch , Bert Callewaert , Patrick Calvas , Berten Ceulemans , Nicolas Chassaing , Christel Depienne , Milda Endziniene , Carlos R Ferreira , Carolina Fischinger Moura de Souza , Cécile Freihuber , Shiva Ganesan , Svetlana Gataullina , Renzo Guerrini , Anne-Marie Guerrot , Lars Hansen , Aleksandra Jezela-Stanek , Caroline Karsenty , Anneke Kievit , Frank R Kooy , Christian M Korff , Johanne Kragh Hansen , Martin Larsen , Valérie Layet , Gaetan Lesca , Kim L McBride , Marije Meuwissen , Cyril Mignot , Martino Montomoli , Hannah Moore , Sophie Naudion , Caroline Nava , Marie-Christine Nougues , Elena Parrini , Matthew Pastore , Jurgen H Schelhaas , Steven Skinner , Krzysztoł Szczałuba , Ashley Thomas , Mads Thomassen , Lisbeth Tranebjaerg , Marjon van Slegtenhorst , Lynne A Wolfe , Dennis Lal , Elena Gardella , Lilian Bomme Ousager , Tobias Brünger , Ingo Helbig , Peter Krawitz , Rikke S Møller

Novel Pathogenic Variants in

Genes

Avec: María Domínguez-Ruiz , Montserrat Rodríguez-Ballesteros , Marta Gandía , Elena Gómez-Rosas , Manuela Villamar , Pietro Scimemi , Patrizia Mancini , Nanna D Rendtorff , Miguel A Moreno-Pelayo , Lisbeth Tranebjaerg , Carme Medà , Rosamaria Santarelli , Ignacio Del Castillo

Réseau de co-auteurs

Nanna D Rendtorff 3 collaborations

Giulia Ascari 1 collaboration

Marieke De Bruyne 1 collaboration

Julie De Zaeytijd 1 collaboration

Michel Van Lint 1 collaboration

Miriam Bauwens 1 collaboration

Mattias Van Heetvelde 1 collaboration

Gavin Arno 1 collaboration

Julie Jacob 1 collaboration

David Creytens 1 collaboration

Jo Van Dorpe 1 collaboration

Thalia Van Laethem 1 collaboration

Toon Rosseel 1 collaboration

Tim De Pooter 1 collaboration

Peter De Rijk 1 collaboration

Wouter De Coster 1 collaboration

Björn Menten 1 collaboration

Alfredo Dueñas Rey 1 collaboration

Mojca Strazisar 1 collaboration

Mette Bertelsen 1 collaboration

Elfride De Baere 1 collaboration

Kristianna Mey 1 collaboration

Ali A Muhamad 1 collaboration

Stig H Rasmussen 1 collaboration

Michael Bille 1 collaboration

Per Cayé-Thomasen 1 collaboration

Maria Chiara Pelleri 1 collaboration

Elena Cicchini 1 collaboration

Michael B Petersen 1 collaboration

Teresa Mattina 1 collaboration

Pamela Magini 1 collaboration

Francesca Antonaros 1 collaboration

Maria Caracausi 1 collaboration

Lorenza Vitale 1 collaboration

Chiara Locatelli 1 collaboration

Marco Seri 1 collaboration

Pierluigi Strippoli 1 collaboration

Allison Piovesan 1 collaboration

Guido Cocchi 1 collaboration

Allan Bayat 1 collaboration

Alexej Knaus 1 collaboration

Manuela Pendziwiat 1 collaboration

Alexandra Afenjar 1 collaboration

Tahsin Stefan Barakat 1 collaboration

Friedrich Bosch 1 collaboration

Bert Callewaert 1 collaboration

Patrick Calvas 1 collaboration

Berten Ceulemans 1 collaboration

Nicolas Chassaing 1 collaboration

Christel Depienne 1 collaboration

Milda Endziniene 1 collaboration

Carlos R Ferreira 1 collaboration

Carolina Fischinger Moura de Souza 1 collaboration

Cécile Freihuber 1 collaboration

Shiva Ganesan 1 collaboration

Svetlana Gataullina 1 collaboration

Renzo Guerrini 1 collaboration

Anne-Marie Guerrot 1 collaboration

Lars Hansen 1 collaboration

Aleksandra Jezela-Stanek 1 collaboration

Caroline Karsenty 1 collaboration

Anneke Kievit 1 collaboration

Frank R Kooy 1 collaboration

Christian M Korff 1 collaboration

Johanne Kragh Hansen 1 collaboration

Martin Larsen 1 collaboration

Valérie Layet 1 collaboration

Gaetan Lesca 1 collaboration

Kim L McBride 1 collaboration

Marije Meuwissen 1 collaboration

Cyril Mignot 1 collaboration

Martino Montomoli 1 collaboration

Hannah Moore 1 collaboration

Sophie Naudion 1 collaboration

Caroline Nava 1 collaboration

Marie-Christine Nougues 1 collaboration

Elena Parrini 1 collaboration

Matthew Pastore 1 collaboration

Jurgen H Schelhaas 1 collaboration

Steven Skinner 1 collaboration

Krzysztoł Szczałuba 1 collaboration

Ashley Thomas 1 collaboration

Mads Thomassen 1 collaboration

Marjon van Slegtenhorst 1 collaboration

Lynne A Wolfe 1 collaboration

Dennis Lal 1 collaboration

Elena Gardella 1 collaboration

Lilian Bomme Ousager 1 collaboration

Tobias Brünger 1 collaboration

Ingo Helbig 1 collaboration

Peter Krawitz 1 collaboration

Rikke S Møller 1 collaboration

María Domínguez-Ruiz 1 collaboration

Montserrat Rodríguez-Ballesteros 1 collaboration

Marta Gandía 1 collaboration

Elena Gómez-Rosas 1 collaboration

Manuela Villamar 1 collaboration

Pietro Scimemi 1 collaboration

Patrizia Mancini 1 collaboration

Miguel A Moreno-Pelayo 1 collaboration

Carme Medà 1 collaboration

Rosamaria Santarelli 1 collaboration

Ignacio Del Castillo 1 collaboration