Dorte Launholt Lildballe

Affiliations

Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.
Center for Fetal Diagnostics, Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.

Publications (23)

Cell-based non-invasive prenatal diagnosis in a pregnancy at risk of cystic fibrosis.

Prenatal diagnosis

Avec: Line Dahl Jeppesen , Lotte Hatt , Ripudaman Singh , Katarina Ravn , Mathias Kølvraa , Palle Schelde , Niels Uldbjerg , Ida Vogel , Dorte L Lildballe

A decade of change - lessons learned from prenatal diagnostics in Central Denmark region in 2008-2018.

Acta obstetricia et gynecologica Scandinavica

Avec: Naja Becher , Else Marie Vestergaard , Rikke Christensen , Stina Lou , Puk Sandager , Lars Henning Pedersen , Kasper Gadsbøll , Olav Bjørn Petersen , Ida Vogel

Mosaicism for copy number variations in the placenta is even more difficult to interpret than mosaicism for whole chromosome aneuploidy.

Prenatal diagnosis

Avec: Ida C Bay Lund , Naja Becher , Jesper Graakjaer , Dorte L Lildballe , Niels Uldbjerg , Pauline Bogaard , Astrid Petersen , Else M Vestergaard , Ida Vogel

Genetic analysis identifies the SLC4A3 anion exchanger as a major gene for short QT syndrome.

Heart rhythm

Avec: Morten Krogh Christiansen , Kasper Kjær-Sørensen , Natacha C Clavsen , Sven Dittmann , Maja Fuhlendorff Jensen , Halvor Østerby Guldbrandsen , Lisbeth Nørum Pedersen , Rikke Hasle Sørensen , Klara Müller , Patrick Müller , Kira Vogel , Boris Rudic , Martin Borggrefe , Claus Oxvig , Christian Aalkjær , Eric Schulze-Bahr , Vladimir Matchkov , Henning Bundgaard , Henrik Kjærulf Jensen

National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark.

European journal of medical genetics

Avec: Dorte L Lildballe , Anja Lisbeth Frederiksen , Bitten Schönewolf-Greulich , Charlotte Brasch-Andersen , Charlotte Kvist Lautrup , Helena Gásdal Karstensen , Inge Søkilde Pedersen , Lone Sunde , Lotte Risom , Maria Rasmussen , Mette Bertelsen , Mette Klarskov Andersen , Nanna Dahl Rendtorff , Pernille Axél Gregersen , Pernille M Tørring , Sophia Hammer-Hansen , Susanne E Boonen , Suzanne Granhøj Lindquist , Trine Bjørg Hammer , Birgitte R Diness

Automated variant re-evaluation is labor-balanced and gives clinically relevant results: hereditary cardiac disease as a use case.

European journal of medical genetics

Avec: Anne Grosen , Charlotte K Lautrup , Emil Bahsen , Henrik K Jensen , Dorte L Lildballe

Placental mosaicism in the era of chromosomal microarrays.

European journal of medical genetics

Avec: Ida Vogel , Else Marie Vestergaard , Dorte Launtoft Lildballe , Rikke Christensen , Gerd-Eva Hoseth , Astrid Christine Petersen , Pauline Bogaard , Anne Nødgaard Sørensen

Clinical kidney journal

Avec: Maria Rasmussen , Marlene Louise Nielsen , J Robert Manak , Helle Mogensen , Dorte L Lildballe

Family History is Important to Identify Patients with Monogenic Causes of Adult-Onset Chronic Kidney Disease.

Nephron

Avec: Jeff Granhøj , Birgitte Tougaard , Dorte L Lildballe , Maria Rasmussen

Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease-causing variants.

Prenatal diagnosis

Avec: Line Dahl Jeppesen , Lotte Hatt , Jakob Hedegaard , Ripudaman Singh , Christian Liebst Frisk Toft , Palle Schelde , Anders Sune Pedersen , Michael Knudsen , Ida Vogel

Comparison of the ABC and ACMG systems for variant classification.

European journal of human genetics : EJHG

Avec: Gunnar Houge , Eirik Bratland , Ingvild Aukrust , Kristian Tveten , Gabrielė Žukauskaitė , Ivona Sansovic , Alejandro J Brea-Fernández , Karin Mayer , Teija Paakkola , Caoimhe McKenna , William Wright , Milica Keckarevic Markovic , Dorte L Lildballe , Michal Konecny , Thomas Smol , Pia Alhopuro , Estelle Arnaud Gouttenoire , Katharina Obeid , Albena Todorova , Milena Jankovic , Joanna M Lubieniecka , Maja Stojiljkovic , Marie-Pierre Buisine , Bjørn Ivar Haukanes , Marie Lorans , Hanno Roomere , François M Petit , Maria K Haanpää , Claire Beneteau , Belén Pérez , Dijana Plaseska-Karanfilska , Matthias Rath , Nico Fuhrmann , Bibiana I Ferreira , Coralea Stephanou , Wenche Sjursen , Aleš Maver , Cécile Rouzier , Adela Chirita-Emandi , João Gonçalves , Wei Cheng David Kuek , Martin Broly , Lonneke Haer-Wigman , Meow-Keong Thong , Sok-Kun Tae , Michaela Hyblova , Johan T den Dunnen , Andreas Laner

Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform.

European journal of medical genetics

Avec: Signe Vaeth , Rikke Christensen , Morten Dunø , Kasper Thorsen , John Vissing , Kirsten Svenstrup , Jens Michael Hertz , Henning Andersen , Uffe Birk Jensen

Spontaneous rescue of a FMR1 repeat expansion and review of deletions in the FMR1 non-coding region.

European journal of medical genetics

Avec: Emilie Erbs , Jesper Fenger-Grøn , Cecilie Mondrup Jacobsen , Maria Rasmussen

Clinical genetic diagnostics in Danish autosomal dominant polycystic kidney disease patients reveal possible founder variants.

European journal of medical genetics

Avec: Marlene L Nielsen , Dorte L Lildballe , Maria Rasmussen , Anders Bojesen , Henrik Birn , Lone Sunde

Total Anomalous Pulmonary Venous Connection in Mother and Son with a Central 22q11.2 Microdeletion.

Case reports in genetics

Avec: Signe Faurschou , Dorte L Lildballe , Lisa L Maroun , Morten Helvind , Maria Rasmussen

The role of genomic disorders in chronic kidney failure of undetermined aetiology ≤50 years.

Clinical kidney journal

Avec: Jeff Granhøj , Katja Venborg Pedersen , Mads Malik Aagaard , Jesper Aagaard Graakjaer , Henrik Birn , Maria Rasmussen

Reclassification of an FBN1 variant emphasizes the importance of segregation analysis, information sharing, and multidisciplinary teamwork in understanding genetic variants in health and disease.

American journal of medical genetics. Part A

Avec: Dorte L Lildballe , Sara Markholt , Christina Daugaard Lyngholm , Qin Hao , Christina Fagerberg , Dorte Guldbrand Nielsen , Julius Hannibal Svensmark , Birgitte Rode Diness , Pernille A Gregersen

[Patients with a kidney disease can benefit from a specific genetic diagnose].

Ugeskrift for laeger

Avec: Dorte L Lildballe , Per Ivarsen , Maria Rasmussen

Functional megalin is expressed in renal cysts in a mouse model of adult polycystic kidney disease.

Clinical kidney journal

Avec: Marlene L Nielsen , Mia C Mundt , Dorte L Lildballe , Maria Rasmussen , Lone Sunde , Vicente E Torres , Peter C Harris , Henrik Birn

National data on the early clinical use of non-invasive prenatal testing in public and private healthcare in Denmark 2013-2017.

Acta obstetricia et gynecologica Scandinavica

Avec: Ida C B Lund , Olav B Petersen , Naja H Becher , Dorte L Lildballe , Finn S Jørgensen , Louise Ambye , Lillian Skibsted , Anja Ernst , Ann N Jensen , Christina Fagerberg , Charlotte Brasch-Andersen , Ann Tabor , Helle J Zingenberg , Pernille Nørgaard , Gitte J Almind , Else Marie Vestergaard , Ida Vogel

Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.

European journal of medical genetics

Avec: Soren L Faergeman , Anders B Bojesen , Maria Rasmussen , Naja Becher , Lotte Andreasen , Brian N Andersen , Emilie Erbs , Dorte L Lildballe , Jens Erik K Nielsen , Monica Zilmer , Trine Bjørg Hammer , Mikkel Ø Andersen , Charlotte Brasch-Andersen , Christina R Fagerberg , Niels O Illum , Mette B Thorup , Pernille A Gregersen

Multifocal ectopic purkinje-related premature contractions and related cardiomyopathy.

Frontiers in cardiovascular medicine

Avec: Kirstine Calloe , Helena B D Magnusson , Morten Krogh Christiansen , Henrik Kjærulf Jensen

Ugeskrift for laeger

Avec: Thorkild Terkelsen , Thomas Folkmann Hansen , Morten Krogh Herlin , Malene Djursby , Mette Nyegaard , Inge Søkilde Pedersen , Søren Lejsted Færgeman , Lone Sunde , Mads Engel Hauberg

Réseau de co-auteurs

Dorte L Lildballe 14 collaborations

Maria Rasmussen 10 collaborations

Ida Vogel 6 collaborations

Lone Sunde 4 collaborations

Naja Becher 3 collaborations

Else Marie Vestergaard 3 collaborations

Rikke Christensen 3 collaborations

Charlotte Brasch-Andersen 3 collaborations

Henrik Birn 3 collaborations

Line Dahl Jeppesen 2 collaborations

Lotte Hatt 2 collaborations

Ripudaman Singh 2 collaborations

Palle Schelde 2 collaborations

Niels Uldbjerg 2 collaborations

Pauline Bogaard 2 collaborations

Morten Krogh Christiansen 2 collaborations

Henrik Kjærulf Jensen 2 collaborations

Inge Søkilde Pedersen 2 collaborations

Trine Bjørg Hammer 2 collaborations

Jeff Granhøj 2 collaborations

Emilie Erbs 2 collaborations

Marlene L Nielsen 2 collaborations

Christina Fagerberg 2 collaborations

Pernille A Gregersen 2 collaborations

Katarina Ravn 1 collaboration

Mathias Kølvraa 1 collaboration

Stina Lou 1 collaboration

Puk Sandager 1 collaboration

Lars Henning Pedersen 1 collaboration

Kasper Gadsbøll 1 collaboration

Olav Bjørn Petersen 1 collaboration

Ida C Bay Lund 1 collaboration

Jesper Graakjaer 1 collaboration

Astrid Petersen 1 collaboration

Else M Vestergaard 1 collaboration

Kasper Kjær-Sørensen 1 collaboration

Natacha C Clavsen 1 collaboration

Sven Dittmann 1 collaboration

Maja Fuhlendorff Jensen 1 collaboration

Halvor Østerby Guldbrandsen 1 collaboration

Lisbeth Nørum Pedersen 1 collaboration

Rikke Hasle Sørensen 1 collaboration

Klara Müller 1 collaboration

Patrick Müller 1 collaboration

Kira Vogel 1 collaboration

Boris Rudic 1 collaboration

Martin Borggrefe 1 collaboration

Claus Oxvig 1 collaboration

Christian Aalkjær 1 collaboration

Eric Schulze-Bahr 1 collaboration

Vladimir Matchkov 1 collaboration

Henning Bundgaard 1 collaboration

Anja Lisbeth Frederiksen 1 collaboration

Bitten Schönewolf-Greulich 1 collaboration

Charlotte Kvist Lautrup 1 collaboration

Helena Gásdal Karstensen 1 collaboration

Lotte Risom 1 collaboration

Mette Bertelsen 1 collaboration

Mette Klarskov Andersen 1 collaboration

Nanna Dahl Rendtorff 1 collaboration

Pernille Axél Gregersen 1 collaboration

Pernille M Tørring 1 collaboration

Sophia Hammer-Hansen 1 collaboration

Susanne E Boonen 1 collaboration

Suzanne Granhøj Lindquist 1 collaboration

Birgitte R Diness 1 collaboration

Anne Grosen 1 collaboration

Charlotte K Lautrup 1 collaboration

Emil Bahsen 1 collaboration

Henrik K Jensen 1 collaboration

Dorte Launtoft Lildballe 1 collaboration

Gerd-Eva Hoseth 1 collaboration

Astrid Christine Petersen 1 collaboration

Anne Nødgaard Sørensen 1 collaboration

Marlene Louise Nielsen 1 collaboration

J Robert Manak 1 collaboration

Helle Mogensen 1 collaboration

Birgitte Tougaard 1 collaboration

Jakob Hedegaard 1 collaboration

Christian Liebst Frisk Toft 1 collaboration

Anders Sune Pedersen 1 collaboration

Michael Knudsen 1 collaboration

Gunnar Houge 1 collaboration

Eirik Bratland 1 collaboration

Ingvild Aukrust 1 collaboration

Kristian Tveten 1 collaboration

Gabrielė Žukauskaitė 1 collaboration

Ivona Sansovic 1 collaboration

Alejandro J Brea-Fernández 1 collaboration

Karin Mayer 1 collaboration

Teija Paakkola 1 collaboration

Caoimhe McKenna 1 collaboration

William Wright 1 collaboration

Milica Keckarevic Markovic 1 collaboration

Michal Konecny 1 collaboration

Thomas Smol 1 collaboration

Pia Alhopuro 1 collaboration

Estelle Arnaud Gouttenoire 1 collaboration

Katharina Obeid 1 collaboration

Albena Todorova 1 collaboration

Milena Jankovic 1 collaboration

Joanna M Lubieniecka 1 collaboration

Maja Stojiljkovic 1 collaboration

Marie-Pierre Buisine 1 collaboration

Bjørn Ivar Haukanes 1 collaboration

Marie Lorans 1 collaboration

Hanno Roomere 1 collaboration

François M Petit 1 collaboration

Maria K Haanpää 1 collaboration

Claire Beneteau 1 collaboration

Belén Pérez 1 collaboration

Dijana Plaseska-Karanfilska 1 collaboration

Matthias Rath 1 collaboration

Nico Fuhrmann 1 collaboration

Bibiana I Ferreira 1 collaboration

Coralea Stephanou 1 collaboration

Wenche Sjursen 1 collaboration

Aleš Maver 1 collaboration

Cécile Rouzier 1 collaboration

Adela Chirita-Emandi 1 collaboration

João Gonçalves 1 collaboration

Wei Cheng David Kuek 1 collaboration

Martin Broly 1 collaboration

Lonneke Haer-Wigman 1 collaboration

Meow-Keong Thong 1 collaboration

Sok-Kun Tae 1 collaboration

Michaela Hyblova 1 collaboration

Johan T den Dunnen 1 collaboration

Andreas Laner 1 collaboration

Signe Vaeth 1 collaboration

Morten Dunø 1 collaboration

Kasper Thorsen 1 collaboration

John Vissing 1 collaboration

Kirsten Svenstrup 1 collaboration

Jens Michael Hertz 1 collaboration

Henning Andersen 1 collaboration

Uffe Birk Jensen 1 collaboration

Jesper Fenger-Grøn 1 collaboration

Cecilie Mondrup Jacobsen 1 collaboration

Anders Bojesen 1 collaboration

Signe Faurschou 1 collaboration

Lisa L Maroun 1 collaboration

Morten Helvind 1 collaboration

Katja Venborg Pedersen 1 collaboration

Mads Malik Aagaard 1 collaboration

Jesper Aagaard Graakjaer 1 collaboration

Sara Markholt 1 collaboration

Christina Daugaard Lyngholm 1 collaboration

Qin Hao 1 collaboration

Dorte Guldbrand Nielsen 1 collaboration

Julius Hannibal Svensmark 1 collaboration

Birgitte Rode Diness 1 collaboration

Per Ivarsen 1 collaboration

Mia C Mundt 1 collaboration

Vicente E Torres 1 collaboration

Peter C Harris 1 collaboration

Ida C B Lund 1 collaboration

Olav B Petersen 1 collaboration

Naja H Becher 1 collaboration

Finn S Jørgensen 1 collaboration

Louise Ambye 1 collaboration

Lillian Skibsted 1 collaboration

Anja Ernst 1 collaboration

Ann N Jensen 1 collaboration

Ann Tabor 1 collaboration

Helle J Zingenberg 1 collaboration

Pernille Nørgaard 1 collaboration

Gitte J Almind 1 collaboration

Soren L Faergeman 1 collaboration

Anders B Bojesen 1 collaboration

Lotte Andreasen 1 collaboration

Brian N Andersen 1 collaboration

Jens Erik K Nielsen 1 collaboration

Monica Zilmer 1 collaboration

Mikkel Ø Andersen 1 collaboration

Christina R Fagerberg 1 collaboration

Niels O Illum 1 collaboration

Mette B Thorup 1 collaboration

Kirstine Calloe 1 collaboration

Helena B D Magnusson 1 collaboration

Thorkild Terkelsen 1 collaboration

Thomas Folkmann Hansen 1 collaboration

Morten Krogh Herlin 1 collaboration

Malene Djursby 1 collaboration

Mette Nyegaard 1 collaboration

Søren Lejsted Færgeman 1 collaboration

Mads Engel Hauberg 1 collaboration