Birgitte Rode Diness

Affiliations

Department of Clinical Genetics, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
Department of Clinical Medicine, Faculty of Health, University of Copenhagen, Kobenhavn, Denmark.

Publications (15)

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

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

Journal of medical genetics

Avec: Umut Altunoglu , Adrian Palencia-Campos , Nilay Güneş , Gozde Tutku Turgut , Julian Nevado , Pablo Lapunzina , Maria Valencia , Asier Iturrate , Ghada Otaify , Rasha Elhossini , Adel Ashour , Asmaa K Amin , Rania F Elnahas , Elisa Fernandez-Nuñez , Carmen-Lisset Flores , Pedro Arias , Jair Tenorio , Carlos Israel Chamorro Fernández , Yeliz Güven , Elif Özsu , Beray Selver Eklioğlu , Marisol Ibarra-Ramirez , Birgitte Rode Diness , Birute Burnyte , Houda Ajmi , Zafer Yüksel , Ruken Yıldırım , Edip Ünal , Ebtesam Abdalla , Mona Aglan , Hulya Kayserili , Beyhan Tuysuz , Victor Ruiz-Pérez

Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families.

Clinical genetics

Avec: Fiona McKenzie , Kym Mina , Bert Callewaert , Aude Beyens , Jan E Dickinson , Gareth Jevon , John Papadimitriou , Birgitte Rode Diness , Jesper Norman Steensberg , Jakob Ek , Gareth Baynam

Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD).

Journal of the neurological sciences

Avec: Birgitte Rode Diness , Rachel Nina Palmquist , Rikke Norling , Hanne Hove , Henning Bundgaard , Jens Michael Hertz , Daniel Kondziella , Derk Krieger , Morten Dunø , Sabine Grønborg

Novel

International journal of molecular sciences

Avec: Ilse Van Gucht , Alice Krebsova , Birgitte Rode Diness , Steven Laga , Dave Adlam , Marlies Kempers , Nilesh J Samani , Tom R Webb , Ania A Baranowska , Lotte Van Den Heuvel , Melanie Perik , Ilse Luyckx , Nils Peeters , Pavel Votypka , Milan Macek , Josephina Meester , Lut Van Laer , Aline Verstraeten , Bart L Loeys

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

Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations.

European journal of medical genetics

Avec: Lise Graversen , Mette Møller Handrup , Melita Irving , Hanne Hove , Birgitte Rode Diness , Lotte Risom , Dea Svaneby , Mads Malik Aagaard , Ida Vogel , Hans Gjørup , Michael Davidsen , Michel Bach Hellfritzsch , Eva Lauridsen , Pernille Axél Gregersen

[Genetic screening of prospective parents].

Ugeskrift for laeger

Avec: Vibe Madsen Smed , Olav Bennike Bjørn Petersen , Anne-Marie Axø Gerdes , Birgitte Rode Diness , Laura Sønderberg Roos

Aortic dissection in a young male with persistent ductus arteriosus and a novel variant in MYLK.

American journal of medical genetics. Part A

Avec: Maria Bejerholm Boelman , Thomas van Overeem Hansen , Matthias Nybro Smith , Sophia Hammer-Hansen , Alex Hørby Christensen , Birgitte Rode Diness

Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth.

European journal of medical genetics

Avec: Bitten Schönewolf-Greulich , Helena Gásdal Karstensen , Tina D Hjortshøj , Finn Stener Jørgensen , Katja M Harder , Susanne Frevert , Hanne Hove , Birgitte R Diness

Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort.

European journal of human genetics : EJHG

Avec: Sophia Hammer-Hansen , Ulrik Stoltze , Emil Bartels , Thomas van Overeem Hansen , Anna Byrjalsen , Anne Tybjærg-Hansen , Klaus Juul , Kjeld Schmiegelow , Jacob Tfelt , Henning Bundgaard , Karin Wadt , Birgitte Rode Diness

Direct to consumer genetic testing in Denmark-public knowledge, use, and attitudes.

European journal of human genetics : EJHG

Avec: Anne-Marie Gerdes , Line Nicolaisen , Egil Husum , Janne Bayer Andersen , Martin Dræbye Gantzhorn , Laura Roos , Birgitte Rode Diness

[The Danish screening programme for haemoglobinopathies].

Ugeskrift for laeger

Avec: Andreas Glenthøj , Mie Samson , Nina Toft , Birgitte Rode Diness , Nikolaj Askj R , Fie Juhl Vojdeman , Henrik Birgens , Morten Beck Sørensen , Jesper Petersen

[Genetic screening of adopted individuals].

Ugeskrift for laeger

Avec: Tanja Røhmer Wriedt , Anne-Marie Axø Gerdes , Laura Kristine Roos , Sophia Hammer-Hansen , Maja Bejerholm Christensen , Birgitte Rode Diness

Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures.

Clinical genetics

Avec: Sofus Sølyst , Riina Oksjoki , Stense Farholt , Dorte Guldbrand Nielsen , Alex H Christensen , Christina R Fagerberg , Lotte Risom , Pernille Axél Gregersen , Maria Bejerholm Christensen , Torsten Bloch Rasmussen , Birgitte Rode Diness

Réseau de co-auteurs

Sophia Hammer-Hansen 4 collaborations

Lotte Risom 3 collaborations

Pernille Axél Gregersen 3 collaborations

Hanne Hove 3 collaborations

Dorte L Lildballe 2 collaborations

Bitten Schönewolf-Greulich 2 collaborations

Helena Gásdal Karstensen 2 collaborations

Birgitte R Diness 2 collaborations

Henning Bundgaard 2 collaborations

Dorte Guldbrand Nielsen 2 collaborations

Anne-Marie Axø Gerdes 2 collaborations

Thomas van Overeem Hansen 2 collaborations

Anja Lisbeth Frederiksen 1 collaboration

Charlotte Brasch-Andersen 1 collaboration

Charlotte Kvist Lautrup 1 collaboration

Inge Søkilde Pedersen 1 collaboration

Lone Sunde 1 collaboration

Maria Rasmussen 1 collaboration

Mette Bertelsen 1 collaboration

Mette Klarskov Andersen 1 collaboration

Nanna Dahl Rendtorff 1 collaboration

Pernille M Tørring 1 collaboration

Susanne E Boonen 1 collaboration

Suzanne Granhøj Lindquist 1 collaboration

Trine Bjørg Hammer 1 collaboration

Umut Altunoglu 1 collaboration

Adrian Palencia-Campos 1 collaboration

Nilay Güneş 1 collaboration

Gozde Tutku Turgut 1 collaboration

Julian Nevado 1 collaboration

Pablo Lapunzina 1 collaboration

Maria Valencia 1 collaboration

Asier Iturrate 1 collaboration

Ghada Otaify 1 collaboration

Rasha Elhossini 1 collaboration

Adel Ashour 1 collaboration

Asmaa K Amin 1 collaboration

Rania F Elnahas 1 collaboration

Elisa Fernandez-Nuñez 1 collaboration

Carmen-Lisset Flores 1 collaboration

Pedro Arias 1 collaboration

Jair Tenorio 1 collaboration

Carlos Israel Chamorro Fernández 1 collaboration

Yeliz Güven 1 collaboration

Elif Özsu 1 collaboration

Beray Selver Eklioğlu 1 collaboration

Marisol Ibarra-Ramirez 1 collaboration

Birute Burnyte 1 collaboration

Houda Ajmi 1 collaboration

Zafer Yüksel 1 collaboration

Ruken Yıldırım 1 collaboration

Edip Ünal 1 collaboration

Ebtesam Abdalla 1 collaboration

Mona Aglan 1 collaboration

Hulya Kayserili 1 collaboration

Beyhan Tuysuz 1 collaboration

Victor Ruiz-Pérez 1 collaboration

Fiona McKenzie 1 collaboration

Kym Mina 1 collaboration

Bert Callewaert 1 collaboration

Aude Beyens 1 collaboration

Jan E Dickinson 1 collaboration

Gareth Jevon 1 collaboration

John Papadimitriou 1 collaboration

Jesper Norman Steensberg 1 collaboration

Jakob Ek 1 collaboration

Gareth Baynam 1 collaboration

Rachel Nina Palmquist 1 collaboration

Rikke Norling 1 collaboration

Jens Michael Hertz 1 collaboration

Daniel Kondziella 1 collaboration

Derk Krieger 1 collaboration

Morten Dunø 1 collaboration

Sabine Grønborg 1 collaboration

Ilse Van Gucht 1 collaboration

Alice Krebsova 1 collaboration

Steven Laga 1 collaboration

Dave Adlam 1 collaboration

Marlies Kempers 1 collaboration

Nilesh J Samani 1 collaboration

Tom R Webb 1 collaboration

Ania A Baranowska 1 collaboration

Lotte Van Den Heuvel 1 collaboration

Melanie Perik 1 collaboration

Ilse Luyckx 1 collaboration

Nils Peeters 1 collaboration

Pavel Votypka 1 collaboration

Milan Macek 1 collaboration

Josephina Meester 1 collaboration

Lut Van Laer 1 collaboration

Aline Verstraeten 1 collaboration

Bart L Loeys 1 collaboration

Sara Markholt 1 collaboration

Christina Daugaard Lyngholm 1 collaboration

Qin Hao 1 collaboration

Christina Fagerberg 1 collaboration

Julius Hannibal Svensmark 1 collaboration

Pernille A Gregersen 1 collaboration

Lise Graversen 1 collaboration

Mette Møller Handrup 1 collaboration

Melita Irving 1 collaboration

Dea Svaneby 1 collaboration

Mads Malik Aagaard 1 collaboration

Ida Vogel 1 collaboration

Hans Gjørup 1 collaboration

Michael Davidsen 1 collaboration

Michel Bach Hellfritzsch 1 collaboration

Eva Lauridsen 1 collaboration

Vibe Madsen Smed 1 collaboration

Olav Bennike Bjørn Petersen 1 collaboration

Laura Sønderberg Roos 1 collaboration

Maria Bejerholm Boelman 1 collaboration

Matthias Nybro Smith 1 collaboration

Alex Hørby Christensen 1 collaboration

Tina D Hjortshøj 1 collaboration

Finn Stener Jørgensen 1 collaboration

Katja M Harder 1 collaboration

Susanne Frevert 1 collaboration

Ulrik Stoltze 1 collaboration

Emil Bartels 1 collaboration

Anna Byrjalsen 1 collaboration

Anne Tybjærg-Hansen 1 collaboration

Klaus Juul 1 collaboration

Kjeld Schmiegelow 1 collaboration

Jacob Tfelt 1 collaboration

Karin Wadt 1 collaboration

Anne-Marie Gerdes 1 collaboration

Line Nicolaisen 1 collaboration

Egil Husum 1 collaboration

Janne Bayer Andersen 1 collaboration

Martin Dræbye Gantzhorn 1 collaboration

Laura Roos 1 collaboration

Andreas Glenthøj 1 collaboration

Mie Samson 1 collaboration

Nina Toft 1 collaboration

Nikolaj Askj R 1 collaboration

Fie Juhl Vojdeman 1 collaboration

Henrik Birgens 1 collaboration

Morten Beck Sørensen 1 collaboration

Jesper Petersen 1 collaboration

Tanja Røhmer Wriedt 1 collaboration

Laura Kristine Roos 1 collaboration

Maja Bejerholm Christensen 1 collaboration

Sofus Sølyst 1 collaboration

Riina Oksjoki 1 collaboration

Stense Farholt 1 collaboration

Alex H Christensen 1 collaboration

Christina R Fagerberg 1 collaboration

Maria Bejerholm Christensen 1 collaboration

Torsten Bloch Rasmussen 1 collaboration