Nasim Vasli

Nasim Vasli

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Nasim Vasli

Nasim Vasli

Publications by authors named "Nasim Vasli"

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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2019 Nov 14. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
November 2019

Genetic Diagnostic Testing for Inherited Cardiomyopathies: Considerations for Offering Multi-Gene Tests in a Health Care Setting.

J Mol Diagn 2019 May 4;21(3):437-448. Epub 2019 Feb 4.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada; Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2019.01.004DOI Listing
May 2019

Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disability.

Psychiatr Genet 2016 Apr;26(2):66-73

aMolecular Neuropsychiatry and Development Lab, The Centre for Addiction & Mental Health (CAMH), The Campbell Family Brain Research Institute bDepartment of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children cDepartment of Medicine, Division of Neurology dDepartment of Psychiatry eInstitute of Medical Science, University of Toronto fKrembil Neuroscience Centre, Toronto Western Research Institute, Toronto gDepartment of Psychiatry, Division of Developmental Disabilities, Queen's University, Kingston, Ontario, Canada hAtta-ur-Rehman School of Applied Biosciences (ASAB), National University of Sciences and Technology (NUST), Islamabad, Pakistan.

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http://dx.doi.org/10.1097/YPG.0000000000000114DOI Listing
April 2016

VaRank: a simple and powerful tool for ranking genetic variants.

PeerJ 2015 3;3:e796. Epub 2015 Mar 3.

IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg , Illkirch Cedex , France ; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg , Strasbourg Cedex , France ; Laboratoire ICUBE, UMR CNRS 7357, LBGI, Université de Strasbourg , Strasbourg , France.

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http://dx.doi.org/10.7717/peerj.796DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4358652PMC
March 2015

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

Brain 2014 Dec 25;137(Pt 12):3160-70. Epub 2014 Sep 25.

1 IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), 67404 Illkirch, France 2 Inserm, U964, 67404 Illkirch, France 3 CNRS, UMR7104, 67404 Illkirch, France 4 Université de Strasbourg, 67404 Illkirch, France 5 Collège de France, Chaire de Génétique Humaine, 67404 Illkirch, France

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http://brain.oxfordjournals.org/content/brain/137/12/3160.fu
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awu272DOI Listing
December 2014

Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family.

Hum Genet 2014 Aug 13;133(8):975-84. Epub 2014 Mar 13.

Human Molecular Genetics Lab, Department of Bioinformatics and Biotechnology, FBAS, International Islamic University, Islamabad, Pakistan.

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http://dx.doi.org/10.1007/s00439-014-1438-0DOI Listing
August 2014

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

Neurology 2013 Oct 23;81(14):1205-14. Epub 2013 Aug 23.

From the Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research (O.C.-B., P.B.A., K.S.-A., E.T.D., L.C.S., K.M., A.H.B.), and Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Physiology and Sarver Molecular Cardiovascular Research Program (C.H., H.G.), University of Arizona, Tucson; Center for Computational Molecular Biology and Department of Molecular and Cellular Biology and Biochemistry (R.S., W.G.F.), Brown University, Providence, RI; Department of Translational Medicine (N.V., J.L.), IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg, Illkirch, France; Departments of Pediatrics and Neurology and Neurotherapeutics (S.T.I.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (P.B.S.), University of California, Los Angeles; Division of Human Genetics (N.S.), Department of Pediatrics, Rhode Island Hospital, Providence; Department of Pediatrics, Division of Pediatric Pathology (J.M.D.), and Department of Pathology and Laboratory Medicine (M.W.L), Medical College of Wisconsin, Milwaukee; Hasbro Children's Hospital (J.M.D.), and Center for Biomedical Engineering (W.G.F.), Brown University, Providence, RI.

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http://dx.doi.org/10.1212/WNL.0b013e3182a6ca62DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3795603PMC
October 2013

Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders.

Acta Neuropathol 2013 Feb 7;125(2):173-85. Epub 2012 Dec 7.

IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), 1, rue Laurent Fries, BP 10142, 67404 Illkirch, France.

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http://dx.doi.org/10.1007/s00401-012-1072-7DOI Listing
February 2013

Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype.

Eur J Hum Genet 2012 Jun 18;20(6):701-4. Epub 2012 Jan 18.

Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France.

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http://www.nature.com/articles/ejhg2011256
Publisher Site
http://dx.doi.org/10.1038/ejhg.2011.256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3355254PMC
June 2012