Helena G Karstensen

Helena Gásdal Karstensen 7 collaborations

Bitten Schönewolf-Greulich 3 collaborations

Nanna Dahl Rendtorff 3 collaborations

Hanne Hove 2 collaborations

Birgitte R Diness 2 collaborations

None None 2 collaborations

Lisbeth Tranebjærg 2 collaborations

Tina D Hjortshøj 1 collaboration

Finn Stener Jørgensen 1 collaboration

Katja M Harder 1 collaboration

Susanne Frevert 1 collaboration

Matthew A Lines 1 collaboration

Paula Goldenberg 1 collaboration

Ashley Wong 1 collaboration

Siddharth Srivastava 1 collaboration

Allan Bayat 1 collaboration

Kwame Anyane-Yeboa 1 collaboration

Jun Liao 1 collaboration

Nan Jiang 1 collaboration

Alison May 1 collaboration

Edwin Guzman 1 collaboration

Manuela Morleo 1 collaboration

Stefano D'Arrigo 1 collaboration

Claudia Ciaccio 1 collaboration

Chiara Pantaleoni 1 collaboration

Raffaele Castello 1 collaboration

Shane McKee 1 collaboration

Jinfon Ong 1 collaboration

Hana Zibdeh-Lough 1 collaboration

Frederic Tran-Mau-Them 1 collaboration

Anna Gerasimenko 1 collaboration

Delphine Heron 1 collaboration

Boris Keren 1 collaboration

Henri Margot 1 collaboration

Jean-Madeleine de Sainte Agathe 1 collaboration

Lydie Burglen 1 collaboration

Thomas Voets 1 collaboration

Joris Vriens 1 collaboration

A Micheil Innes 1 collaboration

David A Dyment 1 collaboration

Laura Arribas-Carreira 1 collaboration

Cristina Dallabona 1 collaboration

Michael A Swanson 1 collaboration

Joseph Farris 1 collaboration

Elsebet Østergaard 1 collaboration

Konstantinos Tsiakas 1 collaboration

Maja Hempel 1 collaboration

Cecile Aquaviva-Bourdain 1 collaboration

Stefanos Koutsoukos 1 collaboration

Nicholas V Stence 1 collaboration

Martina Magistrati 1 collaboration

Elaine B Spector 1 collaboration

Kathryn Kronquist 1 collaboration

Mette Christensen 1 collaboration

René G Feichtinger 1 collaboration

Melanie T Achleitner 1 collaboration

J Lawrence Merritt Ii 1 collaboration

Belén Pérez 1 collaboration

Magdalena Ugarte 1 collaboration

Stephanie Grünewald 1 collaboration

Anthony R Riela 1 collaboration

Natalia Julve 1 collaboration

Jean-Baptiste Arnoux 1 collaboration

Kasturi Haldar 1 collaboration

Claudia Donnini 1 collaboration

René Santer 1 collaboration

Allan M Lund 1 collaboration

Johannes A Mayr 1 collaboration

Pilar Rodriguez-Pombo 1 collaboration

Johan L K Van Hove 1 collaboration

Andreea Manole 1 collaboration

Stephanie Efthymiou 1 collaboration

Emer O'Connor 1 collaboration

Marisa I Mendes 1 collaboration

Matthew Jennings 1 collaboration

Reza Maroofian 1 collaboration

Indran Davagnanam 1 collaboration

Kshitij Mankad 1 collaboration

Maria Rodriguez Lopez 1 collaboration

Vincenzo Salpietro 1 collaboration

Ricardo Harripaul 1 collaboration

Lauren Badalato 1 collaboration

Jagdeep Walia 1 collaboration

Christopher S Francklyn 1 collaboration

Alkyoni Athanasiou-Fragkouli 1 collaboration

Roisin Sullivan 1 collaboration

Sonal Desai 1 collaboration

Kristin Baranano 1 collaboration

Faisal Zafar 1 collaboration

Nuzhat Rana 1 collaboration

Muhammed Ilyas 1 collaboration

Alejandro Horga 1 collaboration

Majdi Kara 1 collaboration

Francesca Mattioli 1 collaboration

Alice Goldenberg 1 collaboration

Helen Griffin 1 collaboration

Amelie Piton 1 collaboration

Lindsay B Henderson 1 collaboration

Benyekhlef Kara 1 collaboration

Ayca Dilruba Aslanger 1 collaboration

Joost Raaphorst 1 collaboration

Rolph Pfundt 1 collaboration

Ruben Portier 1 collaboration

Marwan Shinawi 1 collaboration

Amelia Kirby 1 collaboration

Katherine M Christensen 1 collaboration

Lu Wang 1 collaboration

Rasim O Rosti 1 collaboration

Sohail A Paracha 1 collaboration

Muhammad T Sarwar 1 collaboration

Dagan Jenkins 1 collaboration

Jawad Ahmed 1 collaboration

Federico A Santoni 1 collaboration

Emmanuelle Ranza 1 collaboration

Justyna Iwaszkiewicz 1 collaboration

Cheryl Cytrynbaum 1 collaboration

Rosanna Weksberg 1 collaboration

Ingrid M Wentzensen 1 collaboration

Maria J Guillen Sacoto 1 collaboration

Yue Si 1 collaboration

Aida Telegrafi 1 collaboration

Marisa V Andrews 1 collaboration

Dustin Baldridge 1 collaboration

Heinz Gabriel 1 collaboration

Julia Mohr 1 collaboration

Barbara Oehl-Jaschkowitz 1 collaboration

Sylvain Debard 1 collaboration

Bruno Senger 1 collaboration

Frédéric Fischer 1 collaboration

Conny van Ravenwaaij 1 collaboration

Annemarie J M Fock 1 collaboration

Servi J C Stevens 1 collaboration

Jürg Bähler 1 collaboration

Amina Nasar 1 collaboration

John F Mantovani 1 collaboration

Adnan Manzur 1 collaboration

Anna Sarkozy 1 collaboration

Desirée E C Smith 1 collaboration

Gajja S Salomons 1 collaboration

Zubair M Ahmed 1 collaboration

Shaikh Riazuddin 1 collaboration

Saima Riazuddin 1 collaboration

Muhammad A Usmani 1 collaboration

Annette Seibt 1 collaboration

Muhammad Ansar 1 collaboration

Stylianos E Antonarakis 1 collaboration

John B Vincent 1 collaboration

Muhammad Ayub 1 collaboration

Mona Grimmel 1 collaboration

Anne Marie Jelsig 1 collaboration

Tina Duelund Hjortshøj 1 collaboration

Marybeth Hummel 1 collaboration

Tobias B Haack 1 collaboration

Yalda Jamshidi 1 collaboration

Felix Distelmaier 1 collaboration

Rita Horvath 1 collaboration

Joseph G Gleeson 1 collaboration

Hubert Becker 1 collaboration

Jean-Louis Mandel 1 collaboration

David A Koolen 1 collaboration

Henry Houlden 1 collaboration

Marianne Lodahl 1 collaboration

John Tolmie 1 collaboration

Catherine McWilliam 1 collaboration

Mads Bak 1 collaboration

Niels Tommerup 1 collaboration

Lusine Nazaryan-Petersen 1 collaboration

Henricus Kunst 1 collaboration

Melanie Wong 1 collaboration

Shelagh Joss 1 collaboration

Valerio Carelli 1 collaboration

Nicole Revencu 1 collaboration

Astrid Eijkelenboom 1 collaboration

Claire Bracquemart 1 collaboration

Pia Alhopuro 1 collaboration

Judith Armstrong 1 collaboration

Eulalia Baselga 1 collaboration

Claudia Cesario 1 collaboration

Maria Lisa Dentici 1 collaboration

Melanie Eyries 1 collaboration

Sofia Frisk 1 collaboration

Nagore Gene-Olaciregui 1 collaboration

Sirpa Kivirikko 1 collaboration

Cinzia Lavarino 1 collaboration

Inger-Lise Mero 1 collaboration

Rodolphe Michiels 1 collaboration

Elisa Pisaneschi 1 collaboration

Ilse Wieland 1 collaboration

Martin Zenker 1 collaboration

Miikka Vikkula 1 collaboration

Lone Sandbjerg Hindbæk 1 collaboration

Roberto Colombo 1 collaboration

Amelie Stein 1 collaboration

Niels Holtum Birkebæk 1 collaboration

Rasmus Hartmann-Petersen 1 collaboration

Kresten Lindorff-Larsen 1 collaboration

Allan Thomas Højland 1 collaboration

Michael Bjørn Petersen 1 collaboration

Dorte L Lildballe 1 collaboration

Anja Lisbeth Frederiksen 1 collaboration

Charlotte Brasch-Andersen 1 collaboration

Charlotte Kvist Lautrup 1 collaboration

Inge Søkilde Pedersen 1 collaboration

Lone Sunde 1 collaboration

Lotte Risom 1 collaboration

Maria Rasmussen 1 collaboration

Mette Bertelsen 1 collaboration

Mette Klarskov Andersen 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

Trine Bjørg Hammer 1 collaboration

Affiliations

Publications (8)

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

Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients.

Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.

Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome.

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

Réseau de co-auteurs