Kristina Lagerstedt-Robinson

Publication Activity (10 Years)

Years Active: 2017-2022
Publications (10 Years): 11

Top Topics

Top Venues

JCO precision oncology

Molecular genetics & genomic medicine

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

Publications

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)
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)
Maximilian Kordes, David Tamborero, Kristina Lagerstedt-Robinson, Jeffrey Yachnin, Richard Rosenquist, Johannes Matthias Löhr, Maria Gustafsson Liljefors
Discordant Reporting of a Previously Undescribed Pathogenic Germline BRCA2 Variant in Blood and Tumor Tissue in a Patient With Pancreatic Adenocarcinoma. JCO precision oncology 5 (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)
Karin Wallander, Jessada Thutkawkorapin, Ellika Sahlin, Annika Lindblom, Kristina Lagerstedt-Robinson
Massive parallel sequencing in a family with rectal cancer. Hereditary cancer in clinical practice 19 (1) (2021)
Martin Paucar, Tobias Granberg, Kristina Lagerstedt-Robinson, Elisabet Waldenlind, Sven Petersson, Love Nordin, Per Svenningsson
SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes. Neurology. Genetics 6 (4) (2020)
Emeli Pontén, Sofia Frisk, Fulya Taylan, Raquel Vaz, Sandra Wessman, Leanne de Kock, Niklas Pal, William D Foulkes, Kristina Lagerstedt-Robinson, Ann Nordgren
A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1. Journal of medical genetics (2020)
Jenny von Salomé, Tao Liu, Markku Keihäs, Moni Morak, Elke Holinski-Feder, Ian R Berry, Jukka S Moilanen, Stéphanie Baert-Desurmont, Annika Lindblom, Kristina Lagerstedt-Robinson
Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation. Familial cancer 17 (4) (2019)
Sanne W Ten Broeke, Mar Rodríguez-Girondo, Manon Suerink, Stefan Aretz, Inge Bernstein, Gabriel Capellá Munar, Christoph Engel, Encarna B Gomez-Garcia, Liselot P van Hest, Magnus von Knebel Doeberitz, Kristina Lagerstedt-Robinson, Tom G W Letteboer, Pal Moller, Theo A van Os, Marta Pineda, Nils Rahner, Maran J W Olderode-Berends, Jenny von Salomé, Hans K Schackert, Liesbeth Spruijt, Verena Steinke-Lange, Anja Wagner, Carli M J Tops, Maartje Nielsen
The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 28 (6) (2019)
Karin Wallander, Wen Liu, Susanna von Holst, Jessada Thutkawkorapin, Vinaykumar Kontham, Anna Forsberg, Annika Lindblom, Kristina Lagerstedt-Robinson
Genetic analyses supporting colorectal, gastric, and prostate cancer syndromes. Genes, chromosomes & cancer 58 (11) (2019)
Jenny von Salomé, Philip S Boonstra, Masoud Karimi, Gustav Silander, Marie Stenmark-Askmalm, Samuel Gebre-Medhin, Christos Aravidis, Mef Christina Nilbert, Annika Lindblom, Kristina Lagerstedt-Robinson
Genetic anticipation in Swedish Lynch syndrome families. PLoS genetics 13 (10) (2017)