Publications by authors named "Javad Nadaf"

32Publications

Duplication 2p16 is associated with perisylvian polymicrogyria.

Am J Med Genet A 2019 12 29;179(12):2343-2356. Epub 2019 Oct 29.

Department of Pediatrics (Genetics) and Neurology, University of Washington, and Seattle Children's Research Institute, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.61342DOI Listing
December 2019

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

Double Heterozygosity of BRCA2 and STK11 in Familial Breast Cancer Detected by Exome Sequencing.

Iran J Public Health 2015 Oct;44(10):1348-52

Dept. of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4644579PMC
October 2015

Using Targeted Resequencing for Identification of Candidate Genes and SNPs for a QTL Affecting the pH Value of Chicken Meat.

G3 (Bethesda) 2015 Aug 14;5(10):2085-9. Epub 2015 Aug 14.

Swedish University of Agricultural Sciences, SE-750 07 Uppsala, Sweden, Roslin Institute and R(D)SVS, University of Edinburgh, Midlothian, EH25 9RG, United Kingdom

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http://g3journal.org/lookup/doi/10.1534/g3.115.020552
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http://dx.doi.org/10.1534/g3.115.020552DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4592991PMC
August 2015

Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities.

Expert Rev Mol Diagn 2015 Jun 9;15(6):749-60. Epub 2015 May 9.

Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada.

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http://www.ambrygen.com/sites/default/files/web/publications
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http://dx.doi.org/10.1586/14737159.2015.1039516DOI Listing
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

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

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

An expression QTL of closely linked candidate genes affects pH of meat in chickens.

Genetics 2014 Mar 3;196(3):867-74. Epub 2014 Jan 3.

Institut National de la Recherche Agronomique, Recherches Avicoles, Nouzilly 37380, France.

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http://dx.doi.org/10.1534/genetics.113.160440DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3948812PMC
March 2014

Effect of the prior distribution of SNP effects on the estimation of total breeding value.

BMC Proc 2012 May 21;6 Suppl 2:S6. Epub 2012 May 21.

DNA Landmarks Inc, St-Jean-Sur-Richelieu, J3B 6X3 Quebec, Canada.

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http://dx.doi.org/10.1186/1753-6561-6-S2-S6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3363160PMC
May 2012

Applying different genomic evaluation approaches on QTLMAS2010 dataset.

BMC Proc 2011 May 27;5 Suppl 3:S9. Epub 2011 May 27.

The Roslin Institute and R(D)SVS, University of Edinburgh, Easter Bush, Midlothian, EH25 9RG, UK.

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http://bmcproc.biomedcentral.com/articles/10.1186/1753-6561-
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http://dx.doi.org/10.1186/1753-6561-5-S3-S9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3103208PMC
May 2011

Extensive QTL and association analyses of the QTLMAS2009 Data.

BMC Proc 2010 Mar 31;4 Suppl 1:S11. Epub 2010 Mar 31.

Division of Genetics and Genomics, Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Roslin, Midlothian, EH25 9PS, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2857842PMC
http://dx.doi.org/10.1186/1753-6561-4-s1-s11DOI Listing
March 2010