Anna Lindstrand

Anna Lindstrand

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Anna Lindstrand

Anna Lindstrand

Publications by authors named "Anna Lindstrand"

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Discovery of Novel Sequences in 1,000 Swedish Genomes.

Mol Biol Evol 2019 Sep 24. Epub 2019 Sep 24.

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.

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http://dx.doi.org/10.1093/molbev/msz176DOI Listing
September 2019

Disruptive variants of associate with autism and interfere with neuronal development and synaptic transmission.

Sci Adv 2019 Sep 25;5(9):eaax2166. Epub 2019 Sep 25.

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1126/sciadv.aax2166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6760934PMC
September 2019

Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth.

Clin Genet 2019 Aug 9;96(2):118-125. Epub 2019 May 9.

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13543
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http://dx.doi.org/10.1111/cge.13543DOI Listing
August 2019

Meckel syndrome: Clinical and mutation profile in six fetuses.

Clin Genet 2019 Aug 14. Epub 2019 Aug 14.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

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http://dx.doi.org/10.1111/cge.13623DOI Listing
August 2019

Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation.

Mol Genet Genomic Med 2019 03 10;7(3):e549. Epub 2019 Jan 10.

Department of Women's and Children's Health and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/mgg3.549DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418355PMC
March 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 Mar 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

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

Int J Mol Sci 2019 Mar 14;20(6). Epub 2019 Mar 14.

Department of Molecular Medicine and Surgery, Center for Molecular Medicine and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, 171 76 Stockholm, Sweden.

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http://dx.doi.org/10.3390/ijms20061296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6471844PMC
March 2019

Flanking complex copy number variants in the same family formed through unequal crossing-over during meiosis.

Mutat Res 2018 11 22;812:1-4. Epub 2018 Oct 22.

Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm and Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.mrfmmm.2018.10.001DOI Listing
November 2018

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.

Hum Mutat 2018 10 22;39(10):1456-1467. Epub 2018 Aug 22.

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1002/humu.23605DOI Listing
October 2018

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

Front Endocrinol (Lausanne) 2018 10;9:380. Epub 2018 Jul 10.

Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.3389/fendo.2018.00380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6048219PMC
July 2018

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

PLoS One 2018 26;13(3):e0189710. Epub 2018 Mar 26.

Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0189710PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5868770PMC
June 2018

PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization.

J Bone Miner Res 2017 Dec 6;32(12):2394-2404. Epub 2017 Sep 6.

Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/jbmr.3233DOI Listing
December 2017

Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways.

J Clin Endocrinol Metab 2017 08;102(8):3029-3039

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm 171 77, Sweden.

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http://dx.doi.org/10.1210/jc.2017-00565DOI Listing
August 2017

Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.

Am J Med Genet A 2017 May 20;173(5):1396-1399. Epub 2017 Mar 20.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.38214DOI Listing
May 2017

, an efficient and comprehensive structural variant caller for massive parallel sequencing data.

F1000Res 2017 10;6:664. Epub 2017 May 10.

Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.

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http://dx.doi.org/10.12688/f1000research.11168.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5521161PMC
May 2017

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

PLoS One 2015 1;10(7):e0131883. Epub 2015 Jul 1.

Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0131883PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489572PMC
April 2016

WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.

Hum Mol Genet 2015 Sep 23;24(18):5069-78. Epub 2015 Jun 23.

Department of Women's and Children's Health and Center for Molecular Medicine, Pediatric Surgery, Astrid Lindgren Children Hospital, Karolinska University Hospital, SE-17176 Stockholm, Sweden,

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http://dx.doi.org/10.1093/hmg/ddv225DOI Listing
September 2015

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

Am J Hum Genet 2015 Mar 26;96(3):507-13. Epub 2015 Feb 26.

Department of Clinical Genetics, Karolinska University Hospital, 171 76 Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.ajhg.2015.01.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375419PMC
March 2015

CTNND2-a candidate gene for reading problems and mild intellectual disability.

J Med Genet 2015 Feb 3;52(2):111-22. Epub 2014 Dec 3.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1136/jmedgenet-2014-102757DOI Listing
February 2015

Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.

Mol Genet Genomic Med 2014 Sep 14;2(5):402-11. Epub 2014 May 14.

Department of Molecular Medicine and Surgery and Center of Molecular Medicine, Karolinska Institutet Stockholm, Sweden ; Department of Clinical Genetics, Karolinska University Hospital Stockholm, Sweden.

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http://dx.doi.org/10.1002/mgg3.81DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190875PMC
September 2014

Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: inter- and intra-individual variation and correlation to the phenotype.

Am J Med Genet A 2012 May 11;158A(5):1111-7. Epub 2012 Apr 11.

Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.

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http://doi.wiley.com/10.1002/ajmg.a.35311
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http://dx.doi.org/10.1002/ajmg.a.35311DOI Listing
May 2012

Molecular and clinical characterization of patients with overlapping 10p deletions.

Am J Med Genet A 2010 May;152A(5):1233-43

Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.33366DOI Listing
May 2010