Publications by authors named "Rachid Karam"

29Publications

Reticular dysgenesis caused by an intronic pathogenic variant in .

Cold Spring Harb Mol Case Stud 2020 06 12;6(3). Epub 2020 Jun 12.

MSK Kids, Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.

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http://dx.doi.org/10.1101/mcs.a005017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304357PMC
June 2020

Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico.

Sci Rep 2019 11 28;9(1):17769. Epub 2019 Nov 28.

Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA.

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http://dx.doi.org/10.1038/s41598-019-54170-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6882826PMC
November 2019

Clinical features and cancer risk in families with pathogenic variants irrespective of clinical criteria.

J Med Genet 2019 12 11;56(12):838-843. Epub 2019 Jul 11.

Medicine, Yale University School of Medicine, New Haven, Connecticut, USA

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http://dx.doi.org/10.1136/jmedgenet-2019-105991DOI Listing
December 2019

RNA Analysis Identifies Pathogenic Duplications in MSH2 in Patients With Lynch Syndrome.

Gastroenterology 2019 05 30;156(6):1924-1925.e4. Epub 2019 Jan 30.

Ambry Genetics, Aliso Viejo, California. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2019.01.248DOI Listing
May 2019

A novel de novo germline variant aids in the classification of carboxy-terminal E-cadherin alterations predicted to escape nonsense-mediated mRNA decay.

Cold Spring Harb Mol Case Stud 2018 08 1;4(4). Epub 2018 Aug 1.

Ambry Genetics, Aliso Viejo, California 92656, USA.

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http://dx.doi.org/10.1101/mcs.a003012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6071572PMC
August 2018

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

The unfolded protein response is shaped by the NMD pathway.

EMBO Rep 2015 May 25;16(5):599-609. Epub 2015 Mar 25.

Department of Reproductive Medicine, School of Medicine, University of California San Diego, La Jolla, CA, USA Institute of Genomic Medicine, University of California San Diego, La Jolla, CA, USA

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http://dx.doi.org/10.15252/embr.201439696DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4428047PMC
May 2015

The UPF1 RNA surveillance gene is commonly mutated in pancreatic adenosquamous carcinoma.

Nat Med 2014 Jun 25;20(6):596-8. Epub 2014 May 25.

Clinical and Translational Cancer Research Center, The Tenth People's Hospital, Tongji University School of Medicine, Shanghai, China.

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http://dx.doi.org/10.1038/nm.3548DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4048332PMC
June 2014

Posttranscriptional control of the stem cell and neurogenic programs by the nonsense-mediated RNA decay pathway.

Cell Rep 2014 Feb 13;6(4):748-64. Epub 2014 Feb 13.

Department of Reproductive Medicine, School of Medicine, University of California, San Diego, La Jolla, CA 92093-0695, USA; Institute of Genomic Medicine, University of California, San Diego, La Jolla, CA 92093-0695, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.01.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3962089PMC
February 2014

Regulation of nonsense-mediated mRNA decay: implications for physiology and disease.

Biochim Biophys Acta 2013 Jun-Jul;1829(6-7):624-33. Epub 2013 Mar 13.

Department of Reproductive Medicine, University of California, San Diego, CA 92093-0864, USA.

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http://dx.doi.org/10.1016/j.bbagrm.2013.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3660545PMC
August 2013

A conserved microRNA/NMD regulatory circuit controls gene expression.

RNA Biol 2012 Jan 1;9(1):22-6. Epub 2012 Jan 1.

School of Medicine, Department of Reproductive Medicine, University of California, San Diego, La Jolla, CA, USA.

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http://dx.doi.org/10.4161/rna.9.1.18010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3342942PMC
January 2012

RNA homeostasis governed by cell type-specific and branched feedback loops acting on NMD.

Mol Cell 2011 Sep;43(6):950-61

Department of Reproductive Medicine, School of Medicine, University of California, San Diego, La Jolla, CA 92093, USA.

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http://dx.doi.org/10.1016/j.molcel.2011.06.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281029PMC
September 2011

Evidence for an association of human papillomavirus and breast carcinomas.

Breast Cancer Res Treat 2004 Mar;84(2):131-7

Department of Genetics, Fundacao Faculdade Federal de Ciencias Medicas, Brazil.

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http://dx.doi.org/10.1023/B:BREA.0000018411.89667.0dDOI Listing
March 2004