Anna Lindstrand (Anna Wedell)

ResearcherID Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 30

Top Venues

Human mutation

Biomedicines

Molecular genetics & genomic medicine

Genome medicine

Karolinska Universitetssjukhuset

Karolinska Institutet (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Karolinska Universitetssjukhuset Dec 01 2016

Sweden

Consultant (Biträdande överläkare) :: Clinical genetics

Karolinska Institutet Mar 17 2016

Sweden

Associate Professor (Docent) :: Molecular Medicin and Surgery

Karolinska Universitetssjukhuset - Dec 01 2016

Sweden

Specialist in clinical genetics :: Clinical genetics

Karolinska Institutet Jan 01 2015 - Mar 16 2016

Sweden

Assistant Professor (Forskarassistent) :: Molecular Medicine and Surgery

Duke University

United States

Postdoc :: Center for Human Disease Modelling

Karolinska Universitetssjukhuset

Sweden

Resident physisian :: Clinical genetics

Karolinska Institutet

Sweden

PhD student :: Molecular Medicine and Surgery

Norrbottens Lans Landsting

Sweden

AT-läkare (MD internship) :: Gällivare Sjukhus

Education History

Karolinska Institutet

Sweden

PHD :: Molecular Medicine and Surgery

Karolinska Institutet

Sweden

PHD

Publications

Kristine Bilgrav Saether, Jesper Eisfeldt, Jesse Bengtsson, Ming Yin Lun, Christopher M Grochowski, Medhat Mahmoud, Hsiao-Tuan Chao, Jill A Rosenfeld, Pengfei Liu, Jakob Schuy, Adam Ameur, null null, James Paul Hwang, Fritz J Sedlazeck, Weimin Bi, Ronit Marom, Ann Nordgren, Claudia M B Carvalho, Anna Lindstrand
Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions. medRxiv : the preprint server for health sciences (2024)
Monika K Grudzinska Pechhacker, Anna Molnar, Nadja Pekkola Pacheco, Håkan Thonberg, Laurence Querat, Ulrika Birkeldh, Ann Nordgren, Anna Lindstrand
Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1. Ophthalmic genetics (2023)
Christopher M Grochowski, Jesse D Bengtsson, Haowei Du, Mira Gandhi, Ming Yin Lun, Michele G Mehaffey, KyungHee Park, Wolfram Höps, Eva Benito-Garagorri, Patrick Hasenfeld, Jan O Korbel, Medhat Mahmoud, Luis F Paulin, Shalini N Jhangiani, Donna M Muzny, Jawid M Fatih, Richard A Gibbs, Matthew Pendleton, Eoghan Harrington, Sissel Juul, Anna Lindstrand, Fritz J Sedlazeck, Davut Pehlivan, James R. Lupski, Claudia M B Carvalho
Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures. bioRxiv : the preprint server for biology (2023)
Nadja Pekkola Pacheco, Maria Pettersson, Anna Lindstrand, Giedre Grigelioniene
Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63. American journal of medical genetics. Part A (2023)
Raquel Vaz, Josephine Wincent, Najla Elfissi, Kristina Rosengren Forsblad, Maria Pettersson, Karin Naess, Anna Wedell, Anna Wredenberg, Anna Lindstrand, Sofia Ygberg
A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy. Biomedicines 10 (12) (2022)
Raquel Vaz, Josephine Wincent, Najla Elfissi, Kristina Rosengren Forsblad, Maria Pettersson, Karin Naess, Anna Wedell, Anna Wredenberg, Anna Lindstrand, Sofia Ygberg
A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy. Biomedicines 10 (12) (2022)
Chiara Rasi, Daniel Nilsson, Måns Magnusson, Nicole Lesko, Kristina Lagerstedt-Robinson, Anna Wedell, Anna Lindstrand, Valtteri Wirta, Henrik Stranneheim
PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network. Human mutation 43 (6) (2022)
Jesper Eisfeldt, Jakob Schuy, Eva-Lena Stattin, Malin Kvarnung, Anna Falk, Lars Feuk, Anna Lindstrand
Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis. International journal of molecular sciences 23 (16) (2022)
Thoas Fioretos, Valtteri Wirta, Lucia Cavelier, Eva Berglund, Mikaela Friedman, Michael Akhras, Johan Botling, Hans Ehrencrona, Lars Engstrand, Gisela Helenius, Therese Fagerqvist, David Gisselsson, Sofia K Gruvberger-Saal, Ulf Gyllensten, Markus Heidenblad, Kina Höglund, Bo Jacobson, Maria Johansson, Åsa Johansson, Maria Johansson Soller, Marene Landström, Pär Larsson, Lars-Åke Levin, Anna Lindstrand, Lovisa Lovmar, Anna Lyander, Malin Melin, Ann Nordgren, Gunnel Nordmark, Paula Mölling, Lars Palmqvist, Richard Palmqvist, Dirk Repsilber, Per Sikora, Bianca Stenmark, Peter Söderkvist, Henrik Stranneheim, Tobias Strid, Craig E Wheelock, Mia Wadelius, Anna Wedell, Anders Edsjö, Richard Rosenquist
Implementing precision medicine in a regionally organized healthcare system in Sweden. Nature medicine 28 (10) (2022)
Sofia Ygberg, Anna Lindstrand
Expanding the phenotype of the recurrent truncating eIF2γ pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrome. Clinical case reports 10 (6) (2022)
Sofia Frisk, Alexandra Wachtmeister, Tobias Laurell, Anna Lindstrand, Nina Jäntti, Helena Malmgren, Kristina Lagerstedt-Robinson, Bianca Tesi, Fulya Taylan, Ann Nordgren
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants. Molecular genetics & genomic medicine 10 (4) (2022)
Raquel Vaz, Josephine Wincent, Najla Elfissi, Kristina Rosengren Forsblad, Maria Pettersson, Karin Naess, Anna Wedell, Anna Wredenberg, Anna Lindstrand, Sofia Ygberg
A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy. Biomedicines 10 (12) (2022)
Jesper Eisfeldt, Fatemah Rezayee, Maria Pettersson, Kristina Lagerstedt, Helena Malmgren, Anna Falk, Giedre Grigelioniene, Anna Lindstrand
Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation. Human mutation 43 (11) (2022)
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
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses. Journal of human genetics 66 (10) (2021)
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 Lindstrand
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients. Genome medicine 13 (1) (2021)
Sara Dahl, Maria Pettersson, Jesper Eisfeldt, Anna Katharina Schröder, Ronny Wickström, Kristina Teär Fahnehjelm, Britt-Marie Anderlid, Anna Lindstrand
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia. PloS one 15 (2) (2020)
Jesper Eisfeldt, Maria Pettersson, Anna Petri, Daniel Nilsson, Lars Feuk, Anna Lindstrand
Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier. Human genetics 140 (5) (2020)
Maria Pettersson, Christopher M Grochowski, Josephine Wincent, Jesper Eisfeldt, Amy M Breman, Sau W Cheung, Ana C V Krepischi, Carla Rosenberg, James R. Lupski, Jesper Ottosson, Lovisa Lovmar, Jelena Gacic, Elisabeth S Lundberg, Daniel Nilsson, Cláudia M B Carvalho, Anna Lindstrand
Cytogenetically visible inversions are formed by multiple molecular mechanisms. Human mutation 41 (11) (2020)
Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P Coe, Madelyn A Gillentine, Amy B Wilfert, Luis A Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K Earl, Jill Anne Rosenfeld, Madeleine R Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll, Kathryn Friend, Rachael Catford, Elizabeth E Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J V Hoffer, Barbara Franke, Gerarda Cappuccio, Martin Delatycki, Paul J Lockhart, Melanie A Manning, Pengfei Liu, Ingrid E Scheffer, Nicola Brunetti-Pierri, Nanda Rommelse, David G Amaral, Gijs W E Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J Michaelson, Karen Pierce, Eric Courchesne, R Frank Kooy, null null, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A Bernier, Jozef Gecz, Kun Xia, Evan E Eichler
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nature communications 11 (1) (2020)
Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P Coe, Madelyn A Gillentine, Amy B Wilfert, Luis A Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K Earl, Jill Anne Rosenfeld, Madeleine R Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll, Kathryn Friend, Rachael Catford, Elizabeth E Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J V Hoffer, Barbara Franke, Gerarda Cappuccio, Martin Delatycki, Paul J Lockhart, Melanie A Manning, Pengfei Liu, Ingrid E Scheffer, Nicola Brunetti-Pierri, Nanda Rommelse, David G Amaral, Gijs W E Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J Michaelson, Karen Pierce, Eric Courchesne, R Frank Kooy, null null, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A Bernier, Jozef Gecz, Kun Xia, Evan E Eichler
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nature communications 11 (1) (2020)
Johanna Lundin, Ellen Markljung, Izabella Baranowska Körberg, Wolfgang Hofmeister, Jia Cao, Daniel Nilsson, Gundela Holmdahl, Gillian Barker, Magnus Anderberg, Vladana Vukojević, Anna Lindstrand, Agneta Nordenskjöld
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene. Molecular genetics & genomic medicine 7 (6) (2019)
Periyasamy Radhakrishnan, Shalini S Nayak, Anju Shukla, Anna Lindstrand, Katta Mohan Girisha
Meckel syndrome: Clinical and mutation profile in six fetuses. Clinical genetics 96 (6) (2019)
Jesper Eisfeldt, Maria Pettersson, Francesco Vezzi, Josephine Wincent, Max Käller, Joel Gruselius, Daniel Nilsson, Elisabeth Syk Lundberg, Cláudia M B Carvalho, Anna Lindstrand
Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements. PLoS genetics 15 (2) (2019)
Sofia Frisk, Fulya Taylan, Izabela Blaszczyk, Inger Nennesmo, Göran Annerén, Bettina Herm, Eva-Lena Stattin, Vasilios Zachariadis, Anna Lindstrand, Bianca Tesi, Tobias Laurell, Ann Nordgren
Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth. Clinical genetics 96 (2) (2019)
Karin Salehi Karlslätt, Maria Pettersson, Nina Jäntti, Przemyslaw Szafranski, Tomas Wester, Britt Husberg, Ulla Ullberg, Pawel Stankiewicz, Ann Nordgren, Johanna Lundin, Anna Lindstrand, Agneta Nordenskjöld
Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation. Molecular genetics & genomic medicine 7 (3) (2019)
Hui Guo, Ying Li, Lu Shen, Tianyun Wang, Xiangbin Jia, Lijuan Liu, Tao Xu, Mengzhu Ou, Kendra Hoekzema, Huidan Wu, Madelyn A Gillentine, Cenying Liu, Hailun Ni, Pengwei Peng, Rongjuan Zhao, Yu Zhang, Chanika Phornphutkul, Alexander P A Stegmann, Carlos E Prada, Robert J Hopkin, Joseph T Shieh, Kirsty McWalter, Kristin G Monaghan, Peter M van Hasselt, Koen van Gassen, Ting Bai, Min Long, Lin Han, Yingting Quan, Meilin Chen, Yaowen Zhang, Kuokuo Li, Qiumeng Zhang, Jieqiong Tan, Tengfei Zhu, Yaning Liu, Nan Pang, Jing Peng, Daryl A Scott, Seema R Lalani, Mahshid S Azamian, Grazia M S Mancini, Darius J Adams, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jonathan Pevsner, Ikeoluwa A Osei-Owusu, Corrado Romano, Giuseppe Calabrese, Ornella Galesi, Jozef Gecz, Eric A Haan, Judith Ranells, Melissa Racobaldo, Magnus Nordenskjold, Suneeta Madan-Khetarpal, Jessica Sebastian, Susie Ball, Xiaobing Zou, Jingping Zhao, Zhengmao Hu, Fan Xia, Pengfei Liu, Jill Anne Rosenfeld, Bert B A de Vries, Raphael A Bernier, Zhi-Qing David Xu, Honghui Li, Wei Xie, Robert B Hufnagel, Evan E Eichler, Kun Xia
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission. Science advances 5 (9) (2019)
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
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 11 (1) (2019)
Maria Pettersson, Raquel Vaz, Anna Hammarsjö, Jesper Eisfeldt, Cláudia M B Carvalho, Wolfgang Hofmeister, Emma Tham, Eva Horemuzova, Ulrika Voss, Gen Nishimura, Bo Klintberg, Ann Nordgren, Daniel Nilsson, Giedre Grigelioniene, Anna Lindstrand
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias. Human mutation 39 (10) (2018)
Artem Kiselev, Raquel Vaz, Anastasia Knyazeva, Aleksandr A Khudiakov, Svetlana Tarnovskaya, Jiao Liu, Alexey Sergushichev, Sergey Kazakov, Dmitrij Frishman, Natalia Smolina, Tatiana Pervunina, John Jorholt, Gunnar Sjoberg, Tatiana Vershinina, Dmitriy Rudenko, Anders Arner, Thomas Sejersen, Anna Lindstrand, Anna A Kostareva
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy. Human mutation 39 (9) (2018)
Lusine Nazaryan-Petersen, Jesper Eisfeldt, Maria Pettersson, Johanna Lundin, Daniel Nilsson, Josephine Wincent, Agne Lieden, Lovisa Lovmar, Jesper Ottosson, Jelena Gacic, Outimaija Mäkitie, Ann Nordgren, Francesco Vezzi, Valtteri Wirta, Max Käller, Tina Duelund Hjortshøj, Cathrine Jespersgaard, Rayan Houssari, Laura Pignata, Mads Bak, Niels Tommerup, Elisabeth Syk Lundberg, Zeynep Tümer, Anna Lindstrand
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization. PLoS genetics 14 (11) (2018)

Anna Lindstrand.css-eqlu8i{font-size:small;padding-left:4px;} (Anna Wedell)

Publication Activity (10 Years)

Top Topics

Top Venues

Anna Lindstrand (Anna Wedell)