Hildigunnur Katrínardóttir

Affiliations

deCODE Genetics, Amgen, Reykjavik 101, Iceland.

Publications (2)

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

American journal of human genetics

Avec: Sarah E M Stephenson , Gregory Costain , Laura E R Blok , Michael A Silk , Thanh Binh Nguyen , Xiaomin Dong , Dana E Alhuzaimi , James J Dowling , Susan Walker , Kimberly Amburgey , Robin Z Hayeems , Lance H Rodan , Marc A Schwartz , Jonathan Picker , Sally A Lynch , Aditi Gupta , Kristen J Rasmussen , Lisa A Schimmenti , Eric W Klee , Zhiyv Niu , Katherine E Agre , Ilana Chilton , Wendy K Chung , Anya Revah-Politi , P Y Billie Au , Christopher Griffith , Melissa Racobaldo , Annick Raas-Rothschild , Bruria Ben Zeev , Ortal Barel , Sebastien Moutton , Fanny Morice-Picard , Virginie Carmignac , Jenny Cornaton , Nathalie Marle , Orrin Devinsky , Chandler Stimach , Stephanie Burns Wechsler , Bryan E Hainline , Katie Sapp , Marjolaine Willems , Ange-Line Bruel , Kerith-Rae Dias , Carey-Anne Evans , Tony Roscioli , Rani Sachdev , Suzanna E L Temple , Ying Zhu , Joshua J Baker , Ingrid E Scheffer , Fiona J Gardiner , Amy L Schneider , Alison M Muir , Heather C Mefford , Amy Crunk , Elizabeth M Heise , Francisca Millan , Kristin G Monaghan , Richard Person , Lindsay Rhodes , Sarah Richards , Ingrid M Wentzensen , Benjamin Cogné , Bertrand Isidor , Mathilde Nizon , Marie Vincent , Thomas Besnard , Amelie Piton , Carlo Marcelis , Kohji Kato , Norihisa Koyama , Tomoo Ogi , Elaine Suk-Ying Goh , Christopher Richmond , David J Amor , Jessica O Boyce , Angela T Morgan , Michael S Hildebrand , Antony Kaspi , Melanie Bahlo , Rún Friðriksdóttir , Hildigunnur Katrínardóttir , Patrick Sulem , Kári Stefánsson , Hans Tómas Björnsson , Simone Mandelstam , Manuela Morleo , Milena Mariani , Auteur inconnu , Marcello Scala , Andrea Accogli , Annalaura Torella , Valeria Capra , Mathew Wallis , Sandra Jansen , Quinten Weisfisz , Hugoline de Haan , Simon Sadedin , Auteur inconnu , Sze Chern Lim , Susan M White , David B Ascher , Annette Schenck , Paul J Lockhart , John Christodoulou , Tiong Yang Tan

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.

American journal of human genetics

Avec: Wallid Deb , Cory Rosenfelt , Virginie Vignard , Jonas Johannes Papendorf , Sophie Möller , Martin Wendlandt , Maja Studencka-Turski , Benjamin Cogné , Thomas Besnard , Léa Ruffier , Bérénice Toutain , Léa Poirier , Silvestre Cuinat , Amy Kritzer , Amy Crunk , Janette diMonda , Jaime Vengoechea , Sandra Mercier , Lotte Kleinendorst , Mieke M van Haelst , Linda Zuurbier , Telma Sulem , Hildigunnur Katrínardóttir , Rún Friðriksdóttir , Patrick Sulem , Kari Stefansson , Berglind Jonsdottir , Shimriet Zeidler , Margje Sinnema , Alexander P A Stegmann , Natali Naveh , Cara M Skraban , Christopher Gray , Jill R Murrell , Sedat Isikay , Davut Pehlivan , Daniel G Calame , Jennifer E Posey , Mathilde Nizon , Kirsty McWalter , James R Lupski , Bertrand Isidor , François V Bolduc , Stéphane Bézieau , Elke Krüger , Sébastien Küry , Frédéric Ebstein

Réseau de co-auteurs

Amy Crunk 2 collaborations

Benjamin Cogné 2 collaborations

Bertrand Isidor 2 collaborations

Mathilde Nizon 2 collaborations

Thomas Besnard 2 collaborations

Rún Friðriksdóttir 2 collaborations

Patrick Sulem 2 collaborations

None None 2 collaborations

Sarah E M Stephenson 1 collaboration

Gregory Costain 1 collaboration

Laura E R Blok 1 collaboration

Michael A Silk 1 collaboration

Thanh Binh Nguyen 1 collaboration

Xiaomin Dong 1 collaboration

Dana E Alhuzaimi 1 collaboration

James J Dowling 1 collaboration

Susan Walker 1 collaboration

Kimberly Amburgey 1 collaboration

Robin Z Hayeems 1 collaboration

Lance H Rodan 1 collaboration

Marc A Schwartz 1 collaboration

Jonathan Picker 1 collaboration

Sally A Lynch 1 collaboration

Aditi Gupta 1 collaboration

Kristen J Rasmussen 1 collaboration

Lisa A Schimmenti 1 collaboration

Eric W Klee 1 collaboration

Zhiyv Niu 1 collaboration

Katherine E Agre 1 collaboration

Ilana Chilton 1 collaboration

Wendy K Chung 1 collaboration

Anya Revah-Politi 1 collaboration

P Y Billie Au 1 collaboration

Christopher Griffith 1 collaboration

Melissa Racobaldo 1 collaboration

Annick Raas-Rothschild 1 collaboration

Bruria Ben Zeev 1 collaboration

Ortal Barel 1 collaboration

Sebastien Moutton 1 collaboration

Fanny Morice-Picard 1 collaboration

Virginie Carmignac 1 collaboration

Jenny Cornaton 1 collaboration

Nathalie Marle 1 collaboration

Orrin Devinsky 1 collaboration

Chandler Stimach 1 collaboration

Stephanie Burns Wechsler 1 collaboration

Bryan E Hainline 1 collaboration

Katie Sapp 1 collaboration

Marjolaine Willems 1 collaboration

Ange-Line Bruel 1 collaboration

Kerith-Rae Dias 1 collaboration

Carey-Anne Evans 1 collaboration

Tony Roscioli 1 collaboration

Rani Sachdev 1 collaboration

Suzanna E L Temple 1 collaboration

Ying Zhu 1 collaboration

Joshua J Baker 1 collaboration

Ingrid E Scheffer 1 collaboration

Fiona J Gardiner 1 collaboration

Amy L Schneider 1 collaboration

Alison M Muir 1 collaboration

Heather C Mefford 1 collaboration

Elizabeth M Heise 1 collaboration

Francisca Millan 1 collaboration

Kristin G Monaghan 1 collaboration

Richard Person 1 collaboration

Lindsay Rhodes 1 collaboration

Sarah Richards 1 collaboration

Ingrid M Wentzensen 1 collaboration

Marie Vincent 1 collaboration

Amelie Piton 1 collaboration

Carlo Marcelis 1 collaboration

Kohji Kato 1 collaboration

Norihisa Koyama 1 collaboration

Tomoo Ogi 1 collaboration

Elaine Suk-Ying Goh 1 collaboration

Christopher Richmond 1 collaboration

David J Amor 1 collaboration

Jessica O Boyce 1 collaboration

Angela T Morgan 1 collaboration

Michael S Hildebrand 1 collaboration

Antony Kaspi 1 collaboration

Melanie Bahlo 1 collaboration

Kári Stefánsson 1 collaboration

Hans Tómas Björnsson 1 collaboration

Simone Mandelstam 1 collaboration

Manuela Morleo 1 collaboration

Milena Mariani 1 collaboration

Marcello Scala 1 collaboration

Andrea Accogli 1 collaboration

Annalaura Torella 1 collaboration

Valeria Capra 1 collaboration

Mathew Wallis 1 collaboration

Sandra Jansen 1 collaboration

Quinten Weisfisz 1 collaboration

Hugoline de Haan 1 collaboration

Simon Sadedin 1 collaboration

Sze Chern Lim 1 collaboration

Susan M White 1 collaboration

David B Ascher 1 collaboration

Annette Schenck 1 collaboration

Paul J Lockhart 1 collaboration

John Christodoulou 1 collaboration

Tiong Yang Tan 1 collaboration

Wallid Deb 1 collaboration

Cory Rosenfelt 1 collaboration

Virginie Vignard 1 collaboration

Jonas Johannes Papendorf 1 collaboration

Sophie Möller 1 collaboration

Martin Wendlandt 1 collaboration

Maja Studencka-Turski 1 collaboration

Léa Ruffier 1 collaboration

Bérénice Toutain 1 collaboration

Léa Poirier 1 collaboration

Silvestre Cuinat 1 collaboration

Amy Kritzer 1 collaboration

Janette diMonda 1 collaboration

Jaime Vengoechea 1 collaboration

Sandra Mercier 1 collaboration

Lotte Kleinendorst 1 collaboration

Mieke M van Haelst 1 collaboration

Linda Zuurbier 1 collaboration

Telma Sulem 1 collaboration

Kari Stefansson 1 collaboration

Berglind Jonsdottir 1 collaboration

Shimriet Zeidler 1 collaboration

Margje Sinnema 1 collaboration

Alexander P A Stegmann 1 collaboration

Natali Naveh 1 collaboration

Cara M Skraban 1 collaboration

Christopher Gray 1 collaboration

Jill R Murrell 1 collaboration

Sedat Isikay 1 collaboration

Davut Pehlivan 1 collaboration

Daniel G Calame 1 collaboration

Jennifer E Posey 1 collaboration

Kirsty McWalter 1 collaboration

James R Lupski 1 collaboration

François V Bolduc 1 collaboration

Stéphane Bézieau 1 collaboration

Elke Krüger 1 collaboration

Sébastien Küry 1 collaboration

Frédéric Ebstein 1 collaboration