Researcher
Asbjørg Stray-Pedersen
Norwegian National Newborn Screening, Oslo University Hospital
Statistics
72 papers found
Papers authored by Asbjørg Stray-Pedersen
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2019
Benjamin Cogné,
Sophie Ehresmann,
Justine Rousseau 
,
Thomas Garcia,
Slavé Petrovski,
Kirsty McWalter,
Stephan J. Sanders,
Kévin Uguen,
Jacqueline Harris,
Eliane Beauregard-Lacroix,
Anna Lehman,
Thomas Besnard,
Mindy H. Li,
Usha Kini,
Shelagh Joss
and 100 other authors
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,
Thomas Garcia,
Slavé Petrovski,
Kirsty McWalter,
Stephan J. Sanders,
Kévin Uguen,
Jacqueline Harris,
Eliane Beauregard-Lacroix,
Anna Lehman,
Thomas Besnard,
Mindy H. Li,
Usha Kini,
Shelagh Joss
and 100 other authors
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Bo Yuan,
Juanita Neira,
Davut Pehlivan,
Teresa Santiago-Sim,
Xiaofei Song,
Jill Rosenfeld,
Jennifer E. Posey,
Vipulkumar Patel,
Weihong Jin,
Margaret P. Adam,
Emma L. Baple,
John Dean,
Chin-To Fong,
Scott E. Hickey,
Louanne Hudgins
and 31 other authors
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
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Sandra Jansen ,
Ilse M. van der Werf ,
A. Micheil Innes ,
A. Micheil Innes,
Alexandra Afenjar,
Pankaj B. Agrawal,
Ilse J. Anderson,
Paldeep S. Atwal,
Ellen van Binsbergen,
Marie-José van den Boogaard,
Lucia Castiglia,
Zeynep H. Coban-Akdemir,
Anke van Dijck ,
Diane Doummar,
Albertien M. van Eerde
and 38 other authors
Download from www.nature.com
,
Ilse M. van der Werf ,
A. Micheil Innes ,
A. Micheil Innes,
Alexandra Afenjar,
Pankaj B. Agrawal,
Ilse J. Anderson,
Paldeep S. Atwal,
Ellen van Binsbergen,
Marie-José van den Boogaard,
Lucia Castiglia,
Zeynep H. Coban-Akdemir,
Anke van Dijck ,
Diane Doummar,
Albertien M. van Eerde
and 38 other authors
Download from www.nature.com
2018
Inger Marie Skogseid ,
Oddveig Røsby,
Ane Konglund,
James P. Connelly,
Bård Nedregaard,
Greg Eigner Jablonski,
Nadja Kvernmo,
Asbjørg Stray-Pedersen ,
Joel C. Glover
Download from link.springer.com
,
Oddveig Røsby,
Ane Konglund,
James P. Connelly,
Bård Nedregaard,
Greg Eigner Jablonski,
Nadja Kvernmo,
Asbjørg Stray-Pedersen ,
Joel C. Glover
Download from link.springer.com
Svein Isungset Støve,
Marina Blenski,
Asbjørg Stray-Pedersen ,
Klaas J. Wierenga ,
Shalini N. Jhangiani,
Zeynep Coban Akdemir,
David Crawford,
Nina McTiernan,
Line M. Myklebust,
Gabriela Purcarin,
Rene McNall-Knapp,
Alexandrea Wadley,
John W. Belmont,
Jeffrey J. Kim,
James R. Lupski
and 1 other authors
Download from www.nature.com
,
Klaas J. Wierenga ,
Shalini N. Jhangiani,
Zeynep Coban Akdemir,
David Crawford,
Nina McTiernan,
Line M. Myklebust,
Gabriela Purcarin,
Rene McNall-Knapp,
Alexandrea Wadley,
John W. Belmont,
Jeffrey J. Kim,
James R. Lupski
and 1 other authors
Download from www.nature.com
O. Sjaastad,
N. Blau,
S. L. Rydning,
V. Peters,
O. Rødningen,
A. Stray-Pedersen ,
B. Krossnes,
C. Tallaksen,
J. Koht
,
B. Krossnes,
C. Tallaksen,
J. Koht
Homocarnosinosis: A historical update and findings in the SPG11 gene
Download from api.wiley.com
Hanyin Cheng,
Avinash V. Dharmadhikari,
Sylvia Varland ,
Ning Ma,
Deepti Domingo,
Robert Kleyner,
Alan F. Rope,
Margaret Yoon,
Asbjørg Stray-Pedersen ,
Jennifer E. Posey,
Sarah R. Crews,
Mohammad K. Eldomery,
Zeynep Coban Akdemir,
Andrea M. Lewis,
Vernon R. Sutton
and 57 other authors
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,
Ning Ma,
Deepti Domingo,
Robert Kleyner,
Alan F. Rope,
Margaret Yoon,
Asbjørg Stray-Pedersen ,
Jennifer E. Posey,
Sarah R. Crews,
Mohammad K. Eldomery,
Zeynep Coban Akdemir,
Andrea M. Lewis,
Vernon R. Sutton
and 57 other authors
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Ivan K. Chinn ,
Olive S. Eckstein,
Erin C. Peckham-Gregory,
Baruch R. Goldberg,
Lisa R. Forbes,
Sarah K. Nicholas,
Emily M. Mace,
Tiphanie P. Vogel,
Harshal A. Abhyankar,
Maria I. Diaz,
Helen E. Heslop,
Robert A. Krance,
Caridad A. Martinez,
Trung C. Nguyen,
Dalia A. Bashir
and 18 other authors
,
Olive S. Eckstein,
Erin C. Peckham-Gregory,
Baruch R. Goldberg,
Lisa R. Forbes,
Sarah K. Nicholas,
Emily M. Mace,
Tiphanie P. Vogel,
Harshal A. Abhyankar,
Maria I. Diaz,
Helen E. Heslop,
Robert A. Krance,
Caridad A. Martinez,
Trung C. Nguyen,
Dalia A. Bashir
and 18 other authors
Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis
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Periklis Makrythanasis,
Reza Maroofian,
Asbjørg Stray-Pedersen ,
Damir Musaev,
Maha S. Zaki,
Iman G. Mahmoud ,
Laila Selim,
Amera Elbadawy,
Shalini N. Jhangiani,
Zeynep H. Coban Akdemir,
Tomasz Gambin,
Hanne S. Sorte,
Arvid Heiberg,
Jennifer McEvoy-Venneri,
Kiely N. James
and 15 other authors
,
Damir Musaev,
Maha S. Zaki,
Iman G. Mahmoud ,
Laila Selim,
Amera Elbadawy,
Shalini N. Jhangiani,
Zeynep H. Coban Akdemir,
Tomasz Gambin,
Hanne S. Sorte,
Arvid Heiberg,
Jennifer McEvoy-Venneri,
Kiely N. James
and 15 other authors
Biallelic variants in KIF14 cause intellectual disability with microcephaly
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Børre Fevang ,
Unn Merete Fagerli,
Hanne Sorte,
Harald Aarset,
Håkon Hov,
Marit Langmyr,
Thomas Morten Keil,
Ellen Bjørge,
Pål Aukrust,
Asbjørg Stray-Pedersen ,
Tobias Gedde-Dahl
,
Unn Merete Fagerli,
Hanne Sorte,
Harald Aarset,
Håkon Hov,
Marit Langmyr,
Thomas Morten Keil,
Ellen Bjørge,
Pål Aukrust,
Asbjørg Stray-Pedersen ,
Tobias Gedde-Dahl
Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas
Download from doi.org
2017
Michele Gabriele,
Anneke T. Vulto-Van Silfhout,
Pierre-Luc Germain,
Alessandro Vitriolo,
Raman Kumar,
Evelyn Douglas,
Eric Haan,
Kenjiro Kosaki,
Toshiki Takenouchi,
Anita Rauch,
Katharina Steindl,
Eirik Frengen,
Doriana Misceo,
Christeen Ramane J. Pedurupillay,
Petter Stromme
and 36 other authors
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Ivan K. Chinn ,
Robert P. Sanders,
Asbjørg Stray-Pedersen ,
Zeynep H. Coban-Akdemir,
Vy Hong-Diep Kim,
Harjit Dadi,
Chaim M. Roifman,
Troy Quigg,
James R. Lupski,
Jordan S. Orange,
I. Celine Hanson
Download from doi.org
,
Robert P. Sanders,
Asbjørg Stray-Pedersen ,
Zeynep H. Coban-Akdemir,
Vy Hong-Diep Kim,
Harjit Dadi,
Chaim M. Roifman,
Troy Quigg,
James R. Lupski,
Jordan S. Orange,
I. Celine Hanson
Download from doi.org
Maximilian Witzel,
Daniel Petersheim,
Yanxin Fan,
Ehsan Bahrami,
Tomas Racek,
Meino Rohlfs,
Jacek Puchałka,
Christian Mertes ,
Julien Gagneur,
Christoph Ziegenhain,
Wolfgang Enard ,
Asbjørg Stray-Pedersen ,
Peter D. Arkwright,
Miguel R. Abboud,
Vahid Pazhakh
and 9 other authors
Download from www.nature.com
,
Julien Gagneur,
Christoph Ziegenhain,
Wolfgang Enard ,
Asbjørg Stray-Pedersen ,
Peter D. Arkwright,
Miguel R. Abboud,
Vahid Pazhakh
and 9 other authors
Download from www.nature.com
Mohammad K. Eldomery,
Zeynep Coban-Akdemir,
Tamar Harel,
Jill A. Rosenfeld,
Tomasz Gambin,
Asbjørg Stray-Pedersen ,
Sébastien Küry,
Sandra Mercier,
Davor Lessel ,
Jonas Denecke,
Wojciech Wiszniewski,
Samantha Penney,
Pengfei Liu,
Weimin Bi,
Seema R. Lalani
and 24 other authors
,
Sébastien Küry,
Sandra Mercier,
Davor Lessel ,
Jonas Denecke,
Wojciech Wiszniewski,
Samantha Penney,
Pengfei Liu,
Weimin Bi,
Seema R. Lalani
and 24 other authors
Lessons learned from additional research analyses of unsolved clinical exome cases
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Kelly Schoch,
Linyan Meng,
Szabolcs Szelinger,
David R. Bearden,
Asbjorg Stray-Pedersen ,
Oyvind L. Busk,
Nicholas Stong,
Eriskay Liston,
Ronald D. Cohn,
Fernando Scaglia,
Jill A. Rosenfeld,
Jennifer Tarpinian,
Cara M. Skraban,
Matthew A. Deardorff,
Jeremy N. Friedman
and 195 other authors
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,
Oyvind L. Busk,
Nicholas Stong,
Eriskay Liston,
Ronald D. Cohn,
Fernando Scaglia,
Jill A. Rosenfeld,
Jennifer Tarpinian,
Cara M. Skraban,
Matthew A. Deardorff,
Jeremy N. Friedman
and 195 other authors
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Luis Alberto Pedroza,
Nina Guerrero,
Asbjørg Stray-Pedersen ,
Cristina Tafur,
Roque Macias,
Greta Muñoz,
Zeynep Coban Akdemir,
Shalini N. Jhangiani,
Levi B. Watkin,
Ivan K. Chinn ,
James R. Lupski,
Jordan S. Orange
Download from doi.org
,
Cristina Tafur,
Roque Macias,
Greta Muñoz,
Zeynep Coban Akdemir,
Shalini N. Jhangiani,
Levi B. Watkin,
Ivan K. Chinn ,
James R. Lupski,
Jordan S. Orange
Download from doi.org
Asbjørg Stray-Pedersen ,
Hanne Sørmo Sorte,
Pubudu Samarakoon,
Tomasz Gambin,
Ivan K. Chinn ,
Zeynep H. Coban Akdemir,
Hans Christian Erichsen,
Lisa R. Forbes,
Shen Gu,
Bo Yuan,
Shalini N. Jhangiani,
Donna M. Muzny,
Olaug Kristin Rødningen,
Ying Sheng,
Sarah K. Nicholas
and 78 other authors
,
Hanne Sørmo Sorte,
Pubudu Samarakoon,
Tomasz Gambin,
Ivan K. Chinn ,
Zeynep H. Coban Akdemir,
Hans Christian Erichsen,
Lisa R. Forbes,
Shen Gu,
Bo Yuan,
Shalini N. Jhangiani,
Donna M. Muzny,
Olaug Kristin Rødningen,
Ying Sheng,
Sarah K. Nicholas
and 78 other authors
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
Download from europepmc.org
2016
Tomasz Gambin,
Zeynep C. Akdemir,
Bo Yuan,
Shen Gu,
Theodore Chiang,
Claudia M. B. Carvalho,
Chad Shaw,
Shalini Jhangiani,
Philip M. Boone,
Mohammad K. Eldomery,
Ender Karaca,
Yavuz Bayram,
Asbjørg Stray-Pedersen ,
Donna Muzny,
Wu-Lin Charng
and 6 other authors
,
Donna Muzny,
Wu-Lin Charng
and 6 other authors
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort
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Emily M. Mace,
Venetia Bigley,
Justin T. Gunesch,
Ivan K. Chinn ,
Laura S. Angelo,
Matthew A. Care,
Sheetal Maisuria,
Michael D. Keller,
Sumihito Togi ,
Levi B. Watkin,
David F. LaRosa,
Shalini N. Jhangiani,
Donna M. Muzny,
Asbjørg Stray-Pedersen ,
Zeynep Coban Akdemir
and 18 other authors
,
Laura S. Angelo,
Matthew A. Care,
Sheetal Maisuria,
Michael D. Keller,
Sumihito Togi ,
Levi B. Watkin,
David F. LaRosa,
Shalini N. Jhangiani,
Donna M. Muzny,
Asbjørg Stray-Pedersen ,
Zeynep Coban Akdemir
and 18 other authors
Biallelic mutations in IRF8 impair human NK cell maturation and function
Download from doi.org
Nadia Skauli ,
Sean Wallace,
Samuel C. C. Chiang,
Tuva Barøy,
Asbjørn Holmgren,
Asbjørg Stray-Pedersen ,
Yenan T. Bryceson,
Petter Strømme ,
Eirik Frengen ,
Doriana Misceo
Download from doi.org
,
Sean Wallace,
Samuel C. C. Chiang,
Tuva Barøy,
Asbjørn Holmgren,
Asbjørg Stray-Pedersen ,
Yenan T. Bryceson,
Petter Strømme ,
Eirik Frengen ,
Doriana Misceo
Download from doi.org
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