Anna Hammarsjö

Affiliations

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden. anna.hammarsjo@ki.se.

ORCID: http://orcid.org/0000-0001-6585-0944

Publications (19)

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.

Journal of human genetics

Avec: Anna Hammarsjö , Maria Pettersson , David Chitayat , Atsuhiko Handa , Britt-Marie Anderlid , Marco Bartocci , Donald Basel , Dominyka Batkovskyte , Ana Beleza-Meireles , Peter Conner , Jesper Eisfeldt , Katta M Girisha , Brian Hon-Yin Chung , Eva Horemuzova , Hironobu Hyodo , Liene Korņejeva , Kristina Lagerstedt-Robinson , Angela E Lin , Måns Magnusson , Shahida Moosa , Shalini S Nayak , Daniel Nilsson , Hirofumi Ohashi , Naoko Ohashi-Fukuda , Henrik Stranneheim , Fulya Taylan , Rasa Traberg , Ulrika Voss , Valtteri Wirta , Ann Nordgren , Gen Nishimura , Anna Lindstrand , Giedre Grigelioniene

Case Report: Inversion of

Frontiers in endocrinology

Avec: Hillevi Lindelöf , Eva Horemuzova , Ulrika Voss , Ann Nordgren , Giedre Grigelioniene , Anna Hammarsjö

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.

Genome medicine

Avec: Anna Lindstrand , Jesper Eisfeldt , Maria Pettersson , Claudia M B Carvalho , Malin Kvarnung , Giedre Grigelioniene , Britt-Marie Anderlid , Olof Bjerin , Peter Gustavsson , Anna Hammarsjö , Patrik Georgii-Hemming , Erik Iwarsson , Maria Johansson-Soller , Kristina Lagerstedt-Robinson , Agne Lieden , Måns Magnusson , Marcel Martin , Helena Malmgren , Magnus Nordenskjöld , Ameli Norling , Ellika Sahlin , Henrik Stranneheim , Emma Tham , Josephine Wincent , Sofia Ygberg , Anna Wedell , Valtteri Wirta , Ann Nordgren , Johanna Lundin , Daniel Nilsson

Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.

American journal of medical genetics. Part A

Avec: Lorenzo D Botto , Marie Meeths , Belinda Campos-Xavier , Rosalba Bergamaschi , Laura Mazzanti , Emanuela Scarano , Andrea Finocchi , Caterina Cancrini , Birgit Zirn , Ingrid Kühnle , Christof Maria Kramm , Yasemin Alanay , Wendy D Jones , Melita Irving , Ataf Sabir , Jan-Inge Henter , Birgit Borgström , Ann Nordgren , Anna Hammarsjö , Caterina Putti , Chiara Mozzato , Daniela Zuccarello , Gen Nishimura , Luisa Bonafè , Giedre Grigelioniene , Sheila Unger , Andrea Superti-Furga

Skeletal ciliopathies: a pattern recognition approach.

Japanese journal of radiology

Avec: Atsuhiko Handa , Ulrika Voss , Anna Hammarsjö , Giedre Grigelioniene , Gen Nishimura

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome medicine

Avec: Henrik Stranneheim , Kristina Lagerstedt-Robinson , Måns Magnusson , Malin Kvarnung , Daniel Nilsson , Nicole Lesko , Martin Engvall , Britt-Marie Anderlid , Henrik Arnell , Carolina Backman Johansson , Michela Barbaro , Erik Björck , Helene Bruhn , Jesper Eisfeldt , Christoph Freyer , Giedre Grigelioniene , Peter Gustavsson , Anna Hammarsjö , Maritta Hellström-Pigg , Erik Iwarsson , Anders Jemt , Mikael Laaksonen , Sara Lind Enoksson , Helena Malmgren , Karin Naess , Magnus Nordenskjöld , Mikael Oscarson , Maria Pettersson , Chiara Rasi , Adam Rosenbaum , Ellika Sahlin , Eliane Sardh , Tommy Stödberg , Bianca Tesi , Emma Tham , Håkan Thonberg , Virpi Töhönen , Ulrika von Döbeln , Daphne Vassiliou , Sofie Vonlanthen , Ann-Charlotte Wikström , Josephine Wincent , Ola Winqvist , Anna Wredenberg , Sofia Ygberg , Rolf H Zetterström , Per Marits , Maria Johansson Soller , Ann Nordgren , Valtteri Wirta , Anna Lindstrand , Anna Wedell

A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay.

HGG advances

Avec: Cameron Young , Dominyka Batkovskyte , Miyuki Kitamura , Maria Shvedova , Yutaro Mihara , Jun Akiba , Wen Zhou , Anna Hammarsjö , Gen Nishimura , Shuichi Yatsuga , Giedre Grigelioniene , Tatsuya Kobayashi

Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.

NPJ genomic medicine

Avec: Sen Zhao , Yuanqiang Zhang , Sigrun Hallgrimsdottir , Yuzhi Zuo , Xiaoxin Li , Dominyka Batkovskyte , Sen Liu , Hillevi Lindelöf , Shengru Wang , Anna Hammarsjö , Yang Yang , Yongyu Ye , Lianlei Wang , Zihui Yan , Jiachen Lin , Chenxi Yu , Zefu Chen , Yuchen Niu , Huizi Wang , Zhi Zhao , Pengfei Liu , Guixing Qiu , Jennifer E Posey , Zhihong Wu , James R Lupski , Ieva Micule , Britt-Marie Anderlid , Ulrika Voss , Dennis Sulander , Ekaterina Kuchinskaya , Ann Nordgren , Ola Nilsson , Auteur inconnu , Terry Jianguo Zhang , Giedre Grigelioniene , Nan Wu

Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Anna Lindstrand , Marlene Ek , Malin Kvarnung , Britt-Marie Anderlid , Erik Björck , Jonas Carlsten , Jesper Eisfeldt , Giedre Grigelioniene , Peter Gustavsson , Anna Hammarsjö , Hafdís T Helgadóttir , Maritta Hellström-Pigg , Ekaterina Kuchinskaya , Kristina Lagerstedt-Robinson , Lars-Åke Levin , Agne Lieden , Hillevi Lindelöf , Helena Malmgren , Daniel Nilsson , Eva Svensson , Martin Paucar , Ellika Sahlin , Bianca Tesi , Emma Tham , Johanna Winberg , Max Winerdal , Josephine Wincent , Maria Johansson Soller , Maria Pettersson , Ann Nordgren

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Avec: Dominyka Batkovskyte , Fiona McKenzie , Fulya Taylan , Pelin Ozlem Simsek-Kiper , Sarah M Nikkel , Hirofumi Ohashi , Roger E Stevenson , Thuong Ha , Denise P Cavalcanti , Hiroyuki Miyahara , Steven A Skinner , Miguel A Aguirre , Zühal Akçören , Gulen Eda Utine , Tillie Chiu , Kenji Shimizu , Anna Hammarsjö , Koray Boduroglu , Hannah W Moore , Raymond J Louie , Peer Arts , Allie N Merrihew , Milena Babic , Matilda R Jackson , Nikos Papadogiannakis , Anna Lindstrand , Ann Nordgren , Christopher P Barnett , Hamish S Scott , Andrei S Chagin , Gen Nishimura , Giedre Grigelioniene

Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome.

Clinical genetics

Avec: Dominyka Batkovskyte , Maya Komatsu , Anna Hammarsjö , Ritsuko Pooh , Osamu Shimokawa , Shiro Ikegawa , Giedre Grigelioniene , Gen Nishimura , Takahiro Yamada

Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.

NPJ genomic medicine

Avec: Prince Jacob , Hillevi Lindelöf , Cecilie F Rustad , Vernon Reid Sutton , Shahida Moosa , Prajna Udupa , Anna Hammarsjö , Gandham SriLakshmi Bhavani , Dominyka Batkovskyte , Kristian Tveten , Ashwin Dalal , Eva Horemuzova , Ann Nordgren , Emma Tham , Hitesh Shah , Else Merckoll , Laura Orellana , Gen Nishimura , Katta M Girisha , Giedre Grigelioniene

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia.

Nature medicine

Avec: Giedre Grigelioniene , Hiroshi I Suzuki , Fulya Taylan , Fatemeh Mirzamohammadi , Zvi U Borochowitz , Ugur M Ayturk , Shay Tzur , Eva Horemuzova , Anna Lindstrand , Mary Ann Weis , Gintautas Grigelionis , Anna Hammarsjö , Elin Marsk , Ann Nordgren , Magnus Nordenskjöld , David R Eyre , Matthew L Warman , Gen Nishimura , Phillip A Sharp , Tatsuya Kobayashi

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.

The Journal of experimental medicine

Avec: Yin-Huai Chen , Giedre Grigelioniene , Phillip T Newton , Jacob Gullander , Maria Elfving , Anna Hammarsjö , Dominyka Batkovskyte , Hessa S Alsaif , Wesam I Y Kurdi , Firdous Abdulwahab , Veerabahu Shanmugasundaram , Luke Devey , Séverine Bacrot , Jana Brodszki , Celine Huber , Ben Hamel , David Gisselsson , Nikos Papadogiannakis , Katarina Jedrycha , Barbara Gürtl-Lackner , Andrei S Chagin , Gen Nishimura , Dominik Aschenbrenner , Fowzan S Alkuraya , Arian Laurence , Valérie Cormier-Daire , Holm H Uhlig

The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders.

Scientific reports

Avec: Hannes Runheim , Maria Pettersson , Anna Hammarsjö , Ann Nordgren , Martin Henriksson , Anna Lindstrand , Lars-Åke Levin , Maria Johansson Soller

Case Report: Whole genome sequencing identifies

Frontiers in pediatrics

Avec: Aleksandra Krstic , Fatemah Rezayee , Leonie Saft , Anna Hammarsjö , Petter Svenberg , Gisela Barbany

Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.

Frontiers in neurology

Avec: Marlene Ek , Daniel Nilsson , Martin Engvall , Helena Malmgren , Håkan Thonberg , Maria Pettersson , Britt-Marie Anderlid , Anna Hammarsjö , Hafdis T Helgadottir , Snjolaug Arnardottir , Karin Naess , Inger Nennesmo , Martin Paucar , Helgi Thor Hjartarson , Rayomand Press , Göran Solders , Thomas Sejersen , Anna Lindstrand , Malin Kvarnung

Polymicrogyria: epidemiology, imaging, and clinical aspects in a population-based cohort.

Brain communications

Avec: Sintia Kolbjer , Daniel A Martín Muñoz , Anne K Örtqvist , Maria Pettersson , Anna Hammarsjö , Britt-Marie Anderlid , Maria Dahlin

Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect.

Clinical genetics

Avec: Pernille Axél Gregersen , Anna Hammarsjö , Lise Graversen , Nis Brix , Hillevi Lindelöf , Uffe Birk Jensen , Stense Farholt , Sune Rubak , Jesper Bjerre , Serena G Piticchio , Thorkild Terkelsen , Gen Nishimura , Michel Bach Hellfritzsch , Giedre Grigelioniene

Réseau de co-auteurs

Giedre Grigelioniene 15 collaborations

Ann Nordgren 11 collaborations

Gen Nishimura 10 collaborations

Anna Lindstrand 8 collaborations

Maria Pettersson 7 collaborations

Britt-Marie Anderlid 7 collaborations

Dominyka Batkovskyte 7 collaborations

Daniel Nilsson 5 collaborations

Hillevi Lindelöf 5 collaborations

Jesper Eisfeldt 4 collaborations

Eva Horemuzova 4 collaborations

Kristina Lagerstedt-Robinson 4 collaborations

Ulrika Voss 4 collaborations

Malin Kvarnung 4 collaborations

Helena Malmgren 4 collaborations

Emma Tham 4 collaborations

Måns Magnusson 3 collaborations

Henrik Stranneheim 3 collaborations

Fulya Taylan 3 collaborations

Valtteri Wirta 3 collaborations

Peter Gustavsson 3 collaborations

Magnus Nordenskjöld 3 collaborations

Ellika Sahlin 3 collaborations

Josephine Wincent 3 collaborations

Maria Johansson Soller 3 collaborations

Atsuhiko Handa 2 collaborations

Katta M Girisha 2 collaborations

Shahida Moosa 2 collaborations

Hirofumi Ohashi 2 collaborations

Erik Iwarsson 2 collaborations

Agne Lieden 2 collaborations

Sofia Ygberg 2 collaborations

Anna Wedell 2 collaborations

Martin Engvall 2 collaborations

Erik Björck 2 collaborations

Maritta Hellström-Pigg 2 collaborations

Karin Naess 2 collaborations

Bianca Tesi 2 collaborations

Håkan Thonberg 2 collaborations

Tatsuya Kobayashi 2 collaborations

Ekaterina Kuchinskaya 2 collaborations

Marlene Ek 2 collaborations

Lars-Åke Levin 2 collaborations

Martin Paucar 2 collaborations

Nikos Papadogiannakis 2 collaborations

Andrei S Chagin 2 collaborations

David Chitayat 1 collaboration

Marco Bartocci 1 collaboration

Donald Basel 1 collaboration

Ana Beleza-Meireles 1 collaboration

Peter Conner 1 collaboration

Brian Hon-Yin Chung 1 collaboration

Hironobu Hyodo 1 collaboration

Liene Korņejeva 1 collaboration

Angela E Lin 1 collaboration

Shalini S Nayak 1 collaboration

Naoko Ohashi-Fukuda 1 collaboration

Rasa Traberg 1 collaboration

Claudia M B Carvalho 1 collaboration

Olof Bjerin 1 collaboration

Patrik Georgii-Hemming 1 collaboration

Maria Johansson-Soller 1 collaboration

Marcel Martin 1 collaboration

Ameli Norling 1 collaboration

Johanna Lundin 1 collaboration

Lorenzo D Botto 1 collaboration

Marie Meeths 1 collaboration

Belinda Campos-Xavier 1 collaboration

Rosalba Bergamaschi 1 collaboration

Laura Mazzanti 1 collaboration

Emanuela Scarano 1 collaboration

Andrea Finocchi 1 collaboration

Caterina Cancrini 1 collaboration

Birgit Zirn 1 collaboration

Ingrid Kühnle 1 collaboration

Christof Maria Kramm 1 collaboration

Yasemin Alanay 1 collaboration

Wendy D Jones 1 collaboration

Melita Irving 1 collaboration

Ataf Sabir 1 collaboration

Jan-Inge Henter 1 collaboration

Birgit Borgström 1 collaboration

Caterina Putti 1 collaboration

Chiara Mozzato 1 collaboration

Daniela Zuccarello 1 collaboration

Luisa Bonafè 1 collaboration

Sheila Unger 1 collaboration

Andrea Superti-Furga 1 collaboration

Nicole Lesko 1 collaboration

Henrik Arnell 1 collaboration

Carolina Backman Johansson 1 collaboration

Michela Barbaro 1 collaboration

Helene Bruhn 1 collaboration

Christoph Freyer 1 collaboration

Anders Jemt 1 collaboration

Mikael Laaksonen 1 collaboration

Sara Lind Enoksson 1 collaboration

Mikael Oscarson 1 collaboration

Chiara Rasi 1 collaboration

Adam Rosenbaum 1 collaboration

Eliane Sardh 1 collaboration

Tommy Stödberg 1 collaboration

Virpi Töhönen 1 collaboration

Ulrika von Döbeln 1 collaboration

Daphne Vassiliou 1 collaboration

Sofie Vonlanthen 1 collaboration

Ann-Charlotte Wikström 1 collaboration

Ola Winqvist 1 collaboration

Anna Wredenberg 1 collaboration

Rolf H Zetterström 1 collaboration

Per Marits 1 collaboration

Cameron Young 1 collaboration

Miyuki Kitamura 1 collaboration

Maria Shvedova 1 collaboration

Yutaro Mihara 1 collaboration

Jun Akiba 1 collaboration

Wen Zhou 1 collaboration

Shuichi Yatsuga 1 collaboration

Sen Zhao 1 collaboration

Yuanqiang Zhang 1 collaboration

Sigrun Hallgrimsdottir 1 collaboration

Yuzhi Zuo 1 collaboration

Xiaoxin Li 1 collaboration

Sen Liu 1 collaboration

Shengru Wang 1 collaboration

Yang Yang 1 collaboration

Yongyu Ye 1 collaboration

Lianlei Wang 1 collaboration

Zihui Yan 1 collaboration

Jiachen Lin 1 collaboration

Chenxi Yu 1 collaboration

Zefu Chen 1 collaboration

Yuchen Niu 1 collaboration

Huizi Wang 1 collaboration

Zhi Zhao 1 collaboration

Pengfei Liu 1 collaboration

Guixing Qiu 1 collaboration

Jennifer E Posey 1 collaboration

Zhihong Wu 1 collaboration

James R Lupski 1 collaboration

Ieva Micule 1 collaboration

Dennis Sulander 1 collaboration

Ola Nilsson 1 collaboration

None None 1 collaboration

Terry Jianguo Zhang 1 collaboration

Nan Wu 1 collaboration

Jonas Carlsten 1 collaboration

Hafdís T Helgadóttir 1 collaboration

Eva Svensson 1 collaboration

Johanna Winberg 1 collaboration

Max Winerdal 1 collaboration

Fiona McKenzie 1 collaboration

Pelin Ozlem Simsek-Kiper 1 collaboration

Sarah M Nikkel 1 collaboration

Roger E Stevenson 1 collaboration

Thuong Ha 1 collaboration

Denise P Cavalcanti 1 collaboration

Hiroyuki Miyahara 1 collaboration

Steven A Skinner 1 collaboration

Miguel A Aguirre 1 collaboration

Zühal Akçören 1 collaboration

Gulen Eda Utine 1 collaboration

Tillie Chiu 1 collaboration

Kenji Shimizu 1 collaboration

Koray Boduroglu 1 collaboration

Hannah W Moore 1 collaboration

Raymond J Louie 1 collaboration

Peer Arts 1 collaboration

Allie N Merrihew 1 collaboration

Milena Babic 1 collaboration

Matilda R Jackson 1 collaboration

Christopher P Barnett 1 collaboration

Hamish S Scott 1 collaboration

Maya Komatsu 1 collaboration

Ritsuko Pooh 1 collaboration

Osamu Shimokawa 1 collaboration

Shiro Ikegawa 1 collaboration

Takahiro Yamada 1 collaboration

Prince Jacob 1 collaboration

Cecilie F Rustad 1 collaboration

Vernon Reid Sutton 1 collaboration

Prajna Udupa 1 collaboration

Gandham SriLakshmi Bhavani 1 collaboration

Kristian Tveten 1 collaboration

Ashwin Dalal 1 collaboration

Hitesh Shah 1 collaboration

Else Merckoll 1 collaboration

Laura Orellana 1 collaboration

Hiroshi I Suzuki 1 collaboration

Fatemeh Mirzamohammadi 1 collaboration

Zvi U Borochowitz 1 collaboration

Ugur M Ayturk 1 collaboration

Shay Tzur 1 collaboration

Mary Ann Weis 1 collaboration

Gintautas Grigelionis 1 collaboration

Elin Marsk 1 collaboration

David R Eyre 1 collaboration

Matthew L Warman 1 collaboration

Phillip A Sharp 1 collaboration

Yin-Huai Chen 1 collaboration

Phillip T Newton 1 collaboration

Jacob Gullander 1 collaboration

Maria Elfving 1 collaboration

Hessa S Alsaif 1 collaboration

Wesam I Y Kurdi 1 collaboration

Firdous Abdulwahab 1 collaboration

Veerabahu Shanmugasundaram 1 collaboration

Luke Devey 1 collaboration

Séverine Bacrot 1 collaboration

Jana Brodszki 1 collaboration

Celine Huber 1 collaboration

Ben Hamel 1 collaboration

David Gisselsson 1 collaboration

Katarina Jedrycha 1 collaboration

Barbara Gürtl-Lackner 1 collaboration

Dominik Aschenbrenner 1 collaboration

Fowzan S Alkuraya 1 collaboration

Arian Laurence 1 collaboration

Valérie Cormier-Daire 1 collaboration

Holm H Uhlig 1 collaboration

Hannes Runheim 1 collaboration

Martin Henriksson 1 collaboration

Aleksandra Krstic 1 collaboration

Fatemah Rezayee 1 collaboration

Leonie Saft 1 collaboration

Petter Svenberg 1 collaboration

Gisela Barbany 1 collaboration

Hafdis T Helgadottir 1 collaboration

Snjolaug Arnardottir 1 collaboration

Inger Nennesmo 1 collaboration

Helgi Thor Hjartarson 1 collaboration

Rayomand Press 1 collaboration

Göran Solders 1 collaboration

Thomas Sejersen 1 collaboration

Sintia Kolbjer 1 collaboration

Daniel A Martín Muñoz 1 collaboration

Anne K Örtqvist 1 collaboration

Maria Dahlin 1 collaboration

Pernille Axél Gregersen 1 collaboration

Lise Graversen 1 collaboration

Nis Brix 1 collaboration

Uffe Birk Jensen 1 collaboration

Stense Farholt 1 collaboration

Sune Rubak 1 collaboration

Jesper Bjerre 1 collaboration

Serena G Piticchio 1 collaboration

Thorkild Terkelsen 1 collaboration

Michel Bach Hellfritzsch 1 collaboration