Publications by authors named "Tina Pesaran"

34Publications

Genotype-phenotype correlations among TP53 carriers: Literature review and analysis of probands undergoing multi-gene panel testing and single-gene testing.

Cancer Genet 2020 Sep 11;248-249:11-17. Epub 2020 Sep 11.

QIMR Berghofer Medical Research Institute, Genetics and Computational Division, 300 Herston Rd, Herston, QLD 4006, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.cancergen.2020.09.002DOI Listing
September 2020

The Evolution of Constitutional Sequence Variant Interpretation.

Clin Lab Med 2020 06;40(2):135-148

Variant Assessment Program, Ambry Genetics, 15 Argonaut, Aliso Viejo, CA 92656, USA.

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http://dx.doi.org/10.1016/j.cll.2020.02.005DOI Listing
June 2020

Differences in patient ascertainment affect the use of gene-specified ACMG/AMP phenotype-related variant classification criteria: Evidence for TP53.

Hum Mutat 2020 Mar 16;41(3):537-542. Epub 2020 Jan 16.

Genetics and Computational Division, QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.

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http://dx.doi.org/10.1002/humu.23972DOI Listing
March 2020

Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity.

J Med Genet 2020 Jan 7;57(1):62-69. Epub 2019 Aug 7.

Bioinformatics, Ambry Genetics Corp, Aliso Viejo, California, USA

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http://dx.doi.org/10.1136/jmedgenet-2019-106096DOI Listing
January 2020

p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients.

Cancer Genet 2019 06 6;235-236:21-27. Epub 2019 Jun 6.

Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, 300 Herston Rd, Herston QLD 4006, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.cancergen.2019.05.002DOI Listing
June 2019

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.

Hum Mutat 2018 11 7;39(11):1517-1524. Epub 2018 Sep 7.

Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.

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http://dx.doi.org/10.1002/humu.23626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6185798PMC
November 2018

Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants.

Hum Mutat 2018 08 5;39(8):1061-1069. Epub 2018 Jun 5.

QIMR Berghofer Medical Research Institute, Genetics and Computational Division, Herston, Queensland, Australia.

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http://dx.doi.org/10.1002/humu.23553DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6043381PMC
August 2018

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.

Genet Med 2017 10 16;19(10):1096-1104. Epub 2017 Mar 16.

Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2017.14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5600649PMC
October 2017

Efforts Toward Consensus Variant Interpretation by Commercial Laboratories.

J Clin Oncol 2017 04 30;35(11):1261-1262. Epub 2017 Jan 30.

Jill S. Dolinsky, Ambry Genetics, Aliso Viejo, CA; Kathleen S. Hruska, GeneDx, Gaithersburg, MD; Tina Pesaran and Marcy E. Richardson, Ambry Genetics, Aliso Viejo, CA; Rachel T. Klein and Benjamin D. Solomon, GeneDx, Gaithersburg, MD; and Chia-Ling Gau, Ambry Genetics, Aliso Viejo, CA.

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http://dx.doi.org/10.1200/JCO.2016.71.2505DOI Listing
April 2017

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.

Hum Mol Genet 2016 06 23;25(11):2256-2268. Epub 2016 Mar 23.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia

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http://hmg.oxfordjournals.org/content/early/2016/03/23/hmg.d
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http://www.hmg.oxfordjournals.org/lookup/doi/10.1093/hmg/ddw
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http://dx.doi.org/10.1093/hmg/ddw094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5081057PMC
June 2016

ClinGen and Genetic Testing.

N Engl J Med 2015 10;373(14):1376-7

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http://dx.doi.org/10.1056/NEJMc1508700DOI Listing
October 2015

Processed Pseudogene Confounding Deletion/Duplication Assays for SMAD4.

J Mol Diagn 2015 Sep 10;17(5):576-82. Epub 2015 Jul 10.

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah; Pathology Department, University of Utah, Salt Lake City, Utah.

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http://dx.doi.org/10.1016/j.jmoldx.2015.05.005DOI Listing
September 2015

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

Genet Med 2014 Nov 24;16(11):830-7. Epub 2014 Apr 24.

1] Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, USA [2] Division of Genetics and Metabolism, Department of Pediatrics, University of California-Irvine, Irvine, California, USA.

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http://www.ambrygen.com/sites/default/files/LaDuca%20et%20al
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http://www.nature.com/doifinder/10.1038/gim.2014.40
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http://dx.doi.org/10.1038/gim.2014.40DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225457PMC
November 2014

The Diet1 locus confers protection against hypercholesterolemia through enhanced bile acid metabolism.

J Biol Chem 2002 Jan 26;277(1):469-77. Epub 2001 Oct 26.

Department of Medicine, UCLA and the Veterans Affairs Greater Los Angeles Healthcare System, Los Angeles, California 90073, USA.

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http://dx.doi.org/10.1074/jbc.M107107200DOI Listing
January 2002