Zebrafish Models of Neurodevelopmental Disorders: Limitations and Benefits of Current Tools and Techniques

by Raquel Vaz, Wolfgang Hofmeister, Anna Lindstrand
Published 2019-03-01

AMYCNE: Confident copy number assessment using whole genome sequencing data.

by Jesper Eisfeldt, Daniel Nilsson, Johanna C Andersson-Assarsson, Anna Lindstrand
Published 2018-01-01

TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data [version 2; referees: 2 approved]

by Jesper Eisfeldt, Francesco Vezzi, Pall Olason, Daniel Nilsson, Anna Lindstrand
Published 2017-06-01

Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility

by Alice Costantini, Sini Skarp, Sini Skarp, Anders Kämpe, Riikka E. Mäkitie, Maria Pettersson, Minna Männikkö, Minna Männikkö, Hong Jiao, Fulya Taylan, Anna Lindstrand, Anna Lindstrand, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie
Published 2018-07-01

Loqusdb: added value of an observations database of local genomic variation

by Måns Magnusson, Jesper Eisfeldt, Daniel Nilsson, Adam Rosenbaum, Valtteri Wirta, Anna Lindstrand, Anna Wedell, Henrik Stranneheim
Published 2020-07-01

Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.

by Sara Dahl, Maria Pettersson, Jesper Eisfeldt, Anna Katharina Schröder, Ronny Wickström, Kristina Teär Fahnehjelm, Britt-Marie Anderlid, Anna Lindstrand
Published 2020-01-01

Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy

by Artem Kiselev, Raquel Vaz, Anastasia Knyazeva, Alexey Sergushichev, Renata Dmitrieva, Aleksandr Khudiakov, John Jorholt, Natalia Smolina, Natalia Smolina, Ksenia Sukhareva, Yulia Fomicheva, Evgeny Mikhaylov, Lubov Mitrofanova, Alexander Predeus, Alexander Predeus, Gunnar Sjoberg, Dmitriy Rudenko, Thomas Sejersen, Anna Lindstrand, Anna Lindstrand, Anna Kostareva, Anna Kostareva
Published 2019-06-01

Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland.

by Heli Viljakainen, Johanna C Andersson-Assarsson, Miriam Armenio, Minna Pekkinen, Maria Pettersson, Helena Valta, Marita Lipsanen-Nyman, Outi Mäkitie, Anna Lindstrand
Published 2015-01-01

Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome

by Christopher M. Grochowski, Ana C. V. Krepischi, Jesper Eisfeldt, Jesper Eisfeldt, Haowei Du, Debora R. Bertola, Debora R. Bertola, Danyllo Oliveira, Silvia S. Costa, James R. Lupski, James R. Lupski, James R. Lupski, James R. Lupski, Anna Lindstrand, Anna Lindstrand, Claudia M. B. Carvalho, Claudia M. B. Carvalho
Published 2021-08-01

Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements.

by Jesper Eisfeldt, Maria Pettersson, Francesco Vezzi, Josephine Wincent, Max Käller, Joel Gruselius, Daniel Nilsson, Elisabeth Syk Lundberg, Claudia M B Carvalho, Anna Lindstrand
Published 2019-02-01

High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing.

by Anh Nhi Tran, Fulya Taylan, Vasilios Zachariadis, Ingegerd Ivanov Öfverholm, Anna Lindstrand, Francesco Vezzi, Britta Lötstedt, Magnus Nordenskjöld, Ann Nordgren, Daniel Nilsson, Gisela Barbany
Published 2018-01-01

Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene

by 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
Published 2019-06-01

Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186

by Malin Kvarnung, Malin Kvarnung, Mansoureh Shahsavani, Mansoureh Shahsavani, Fulya Taylan, Mohsen Moslem, Nicole Breeuwsma, Loora Laan, Jens Schuster, Zhe Jin, Daniel Nilsson, Daniel Nilsson, Agne Lieden, Agne Lieden, Britt-Marie Anderlid, Britt-Marie Anderlid, Magnus Nordenskjöld, Magnus Nordenskjöld, Elisabeth Syk Lundberg, Elisabeth Syk Lundberg, Bryndis Birnir, Niklas Dahl, Ann Nordgren, Ann Nordgren, Anna Lindstrand, Anna Lindstrand, Anna Falk
Published 2019-09-01

Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report

by Andrea Bieder, Elisabet Einarsdottir, Hans Matsson, Harriet E. Nilsson, Jesper Eisfeldt, Anca Dragomir, Martin Paucar, Tobias Granberg, Tie-Qiang Li, Anna Lindstrand, Juha Kere, Isabel Tapia-Páez
Published 2020-05-01

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.

by Lusine Nazaryan-Petersen, Jesper Eisfeldt, Maria Pettersson, Johanna Lundin, Daniel Nilsson, Josephine Wincent, Agne Lieden, Lovisa Lovmar, Jesper Ottosson, Jelena Gacic, Outi 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
Published 2018-11-01

Male reproductive health statement (XIIIth international symposium on Spermatology, may 9th–12th 2018, Stockholm, Sweden

by Hagai Levine, Hideo Mohri, Anders Ekbom, Liliana Ramos, Geoff Parker, Eduardo Roldan, Luca Jovine, Sabine Koelle, Anna Lindstrand, Simone Immler, Sharon Mortimer, David Mortimer, Gerhard van der Horst, Sumio Ishijima, Natalie Aneck-Hahn, Elisabetta Baldi, Roelof Menkveld, Susan A Rothmann, Aleksander Giwercman, Yvonne Giwercman, Mats Holmberg, Ulrik Kvist, Lars Björndahl, Rebecka Holmberg, Stefan Arver, John Flanagan, Joël R Drevet
Published 2018-10-01

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

by 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
Published 2019-11-01

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

by 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
Published 2021-03-01

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

by 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 A. 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, The SPARK Consortium, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A. Bernier, Jozef Gecz, Kun Xia, Evan E. Eichler
Published 2020-10-01

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

by 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 A. 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, The SPARK Consortium, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A. Bernier, Jozef Gecz, Kun Xia, Evan E. Eichler
Published 2020-10-01