Publications by authors named "Somayyeh Fahiminiya"

52Publications

Methodologies for Transcript Profiling Using Long-Read Technologies.

Front Genet 2020 7;11:606. Epub 2020 Jul 7.

McGill Genome Centre, Department of Human Genetics, McGill University, Montréal, QC, Canada.

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http://dx.doi.org/10.3389/fgene.2020.00606DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358353PMC
July 2020

Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles.

Am J Hum Genet 2018 11;103(5):740-751

Department of Human Genetics, McGill University Health Centre, Montréal, QC H4A 3J1, Canada; Department of Obstetrics and Gynecology, McGill University Health Centre, Montréal, QC H4A 3J1, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218808PMC
November 2018

Ovarian small cell carcinoma in one of a pair of monozygous twins.

Fam Cancer 2019 04;18(2):161-163

Cancer Research Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.

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http://dx.doi.org/10.1007/s10689-018-0108-0DOI Listing
April 2019

Revisiting pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child: DICER1 syndrome or not?

Pediatr Blood Cancer 2018 10 26;65(10):e27294. Epub 2018 Jun 26.

Cancer Research Program, Research Institute, McGill University Health Centre, Montreal, Canada.

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http://doi.wiley.com/10.1002/pbc.27294
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http://dx.doi.org/10.1002/pbc.27294DOI Listing
October 2018

Infantile Pulmonary Teratoid Tumor.

N Engl J Med 2018 06;378(23):2238-2240

McGill University, Montreal, QC, Canada

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http://dx.doi.org/10.1056/NEJMc1803354DOI Listing
June 2018

Current and Future Methods for mRNA Analysis: A Drive Toward Single Molecule Sequencing.

Methods Mol Biol 2018 ;1783:209-241

McGill University and Genome Quebec Innovation Centre, Department of Human Genetics, McGill University, Montréal, QC, Canada.

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http://link.springer.com/10.1007/978-1-4939-7834-2_11
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http://dx.doi.org/10.1007/978-1-4939-7834-2_11DOI Listing
February 2019

Transcript Profiling Using Long-Read Sequencing Technologies.

Methods Mol Biol 2018 ;1783:121-147

Department of Human Genetics, McGill University and Genome Quebec Innovation Centre, McGill University, Montréal, QC, Canada.

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http://link.springer.com/10.1007/978-1-4939-7834-2_6
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http://dx.doi.org/10.1007/978-1-4939-7834-2_6DOI Listing
February 2019

Atypical tuberous sclerosis complex presenting as familial renal cell carcinoma with leiomyomatous stroma.

J Pathol Clin Res 2018 07 13;4(3):167-174. Epub 2018 Jun 13.

Cancer Research Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.

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http://doi.wiley.com/10.1002/cjp2.104
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http://dx.doi.org/10.1002/cjp2.104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6065116PMC
July 2018

DICER1 Mutations Are Frequent in Adolescent-Onset Papillary Thyroid Carcinoma.

J Clin Endocrinol Metab 2018 05;103(5):2009-2015

Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1210/jc.2017-02698DOI Listing
May 2018

Anaplastic sarcomas of the kidney are characterized by DICER1 mutations.

Mod Pathol 2018 01 1;31(1):169-178. Epub 2017 Sep 1.

Department of Medical Genetics, Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, QC, Canada.

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http://dx.doi.org/10.1038/modpathol.2017.100DOI Listing
January 2018

Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression.

Invest Ophthalmol Vis Sci 2017 03;58(3):1736-1742

Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland, Canada.

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http://dx.doi.org/10.1167/iovs.16-20864DOI Listing
March 2017

Biologic and Clinical Perspectives on Thyroid Cancer.

N Engl J Med 2016 12;375(23):2306-2307

McGill University, Montreal, QC, Canada

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http://dx.doi.org/10.1056/NEJMc1613118DOI Listing
December 2016

Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.

Am J Med Genet A 2016 09 4;170(9):2310-21. Epub 2016 Jul 4.

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37831DOI Listing
September 2016

Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A.

Cold Spring Harb Mol Case Stud 2016 May;2(3):a000737

Department of Human Genetics, McGill University, Montreal, Quebec H3A 1B1, Canada;; Department of Pediatrics, McGill University, Montreal, Quebec H4A 3J1, Canada;; Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec H3A 0C7, Canada.

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http://dx.doi.org/10.1101/mcs.a000737DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853519PMC
May 2016

Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing.

Sci Rep 2015 Jul 6;5:12028. Epub 2015 Jul 6.

Institute of Psychology, Chinese Academy of Sciences, Beijing, China 100101; and Rockefeller University, New York, NY 10065, USA.

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http://dx.doi.org/10.1038/srep12028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155624PMC
July 2015

Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.

Am J Hum Genet 2015 Jun 28;96(6):971-8. Epub 2015 May 28.

Department of Physiological Sciences, Oklahoma State University, Stillwater, OK 74078, USA; Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73126, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.04.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4457947PMC
June 2015

Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.

J Med Genet 2015 Jun 14;52(6):381-90. Epub 2015 Apr 14.

Department of Cell & Systems Biology, University of Toronto, Toronto, Ontario, Canada Centre for the Analysis of Genome Evolution and Function, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2014-102707DOI Listing
June 2015

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

J Med Genet 2015 Jun 20;52(6):413-21. Epub 2015 Mar 20.

Unidade de Genética, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil Centro de Pesquisa sobre o Genoma Humano e Células-Tronco, Instituto de Biociências da Universidade de São Paulo, São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1136/jmedgenet-2015-103018DOI Listing
June 2015

Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features.

Cell Rep 2015 Mar 5;10(9):1585-1598. Epub 2015 Mar 5.

Division of Molecular Neurobiology, National Institute for Basic Biology, Okazaki 444-8787, Japan; School of Life Science, The Graduate University for Advanced Studies (SOKENDAI), Okazaki 444-8787, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2015.02.011DOI Listing
March 2015

ExomeAI: detection of recurrent allelic imbalance in tumors using whole-exome sequencing data.

Bioinformatics 2015 Feb 8;31(3):429-31. Epub 2014 Oct 8.

Department of Human Genetics, Faculty of Medicine, McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1093/bioinformatics/btu665DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4308664PMC
February 2015

Transcriptome profiling of granulosa and theca cells during dominant follicle development in the horse.

Biol Reprod 2014 Nov 24;91(5):111. Epub 2014 Sep 24.

INRA and CNRS, UMR 6175 Physiologie de la Reproduction et des Comportements, Nouzilly, France Université François Rabelais de Tours, UMR 6175 Physiologie de la Reproduction et des Comportements, Tours, France Haras Nationaux, UMR 6175 Physiologie de la Reproduction et des Comportements, Nouzilly, France

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http://dx.doi.org/10.1095/biolreprod.114.118943DOI Listing
November 2014

A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children.

Hum Mol Genet 2015 Jan 11;24(2):516-24. Epub 2014 Sep 11.

Department of Human Genetics, McGill University, Montréal, QC, Canada H3A 1B1 Genetics Unit, Shriners Hospital for Children, Montréal, QC, Canada H3G 1A6 and

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http://dx.doi.org/10.1093/hmg/ddu471DOI Listing
January 2015

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.

Nat Genet 2014 May 23;46(5):438-43. Epub 2014 Mar 23.

1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Medical Genetics, Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, McGill University, Montreal, Quebec, Canada. [3] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [4] Department of Medical Genetics, Research Institute, McGill University Health Centre, Montreal, Quebec, Canada.

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http://www.nature.com/articles/ng.2931
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http://dx.doi.org/10.1038/ng.2931DOI Listing
May 2014

Osteoporosis caused by mutations in PLS3: clinical and bone tissue characteristics.

J Bone Miner Res 2014 Aug;29(8):1805-14

Department of Human Genetics, Faculty of Medicine, McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/jbmr.2208DOI Listing
August 2014

Whole-exome sequencing reveals a heterozygous LRP5 mutation in a 6-year-old boy with vertebral compression fractures and low trabecular bone density.

Bone 2013 Nov 23;57(1):41-6. Epub 2013 Jul 23.

Department of Human Genetics, McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.bone.2013.07.020DOI Listing
November 2013

Mutations in WNT1 are a cause of osteogenesis imperfecta.

J Med Genet 2013 May 23;50(5):345-8. Epub 2013 Feb 23.

Department of Human Genetics, McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada.

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http://publicationslist.org/data/frauch/ref-230/J%20Med%20Ge
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http://jmg.bmj.com/cgi/doi/10.1136/jmedgenet-2013-101567
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http://dx.doi.org/10.1136/jmedgenet-2013-101567DOI Listing
May 2013

ARHGDIA: a novel gene implicated in nephrotic syndrome.

J Med Genet 2013 May 22;50(5):330-8. Epub 2013 Feb 22.

Department of Pediatrics, Division of Nephrology, Montreal Children's Hospital and McGill University, 2300, rue Tupper-E222, Montreal, Quebec, Canada H3H 1P3.

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http://dx.doi.org/10.1136/jmedgenet-2012-101442DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625828PMC
May 2013

Proteomic analysis of mare follicular fluid during late follicle development.

Proteome Sci 2011 Sep 17;9:54. Epub 2011 Sep 17.

INRA, UMR 6175 Physiologie de la Reproduction et des Comportements, F- 37380 Nouzilly, France.

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http://dx.doi.org/10.1186/1477-5956-9-54DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3189114PMC
September 2011

Steroid hormones content and proteomic analysis of canine follicular fluid during the preovulatory period.

Reprod Biol Endocrinol 2010 Nov 1;8:132. Epub 2010 Nov 1.

INRA, UMR 6175 Physiologie de la Reproduction et des Comportements, F-37380 Nouzilly, France.

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http://dx.doi.org/10.1186/1477-7827-8-132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2990747PMC
November 2010