Publications by authors named "Christine R Beck"

31Publications

Structural variant identification and characterization.

Chromosome Res 2020 03 6;28(1):31-47. Epub 2020 Jan 6.

The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA.

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http://dx.doi.org/10.1007/s10577-019-09623-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7131885PMC
March 2020

Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.

Cell 2019 03 28;176(6):1310-1324.e10. Epub 2019 Feb 28.

Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Human Genome Sequencing Center, BCM, Houston, TX 77030, USA; Department of Pediatrics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Dan L. Duncan Comprehensive Cancer Center, BCM, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2019.01.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438178PMC
March 2019

Predicting human genes susceptible to genomic instability associated with /-mediated rearrangements.

Genome Res 2018 08 15;28(8):1228-1242. Epub 2018 Jun 15.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1101/gr.229401.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6071635PMC
August 2018

Spliced integrated retrotransposed element (SpIRE) formation in the human genome.

PLoS Biol 2018 03 5;16(3):e2003067. Epub 2018 Mar 5.

Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, United States of America.

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http://dx.doi.org/10.1371/journal.pbio.2003067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5860796PMC
March 2018

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Authors:
Asbjørg Stray-Pedersen Hanne Sørmo Sorte Pubudu Samarakoon Tomasz Gambin Ivan K Chinn Zeynep H Coban Akdemir Hans Christian Erichsen Lisa R Forbes Shen Gu Bo Yuan Shalini N Jhangiani Donna M Muzny Olaug Kristin Rødningen Ying Sheng Sarah K Nicholas Lenora M Noroski Filiz O Seeborg Carla M Davis Debra L Canter Emily M Mace Timothy J Vece Carl E Allen Harshal A Abhyankar Philip M Boone Christine R Beck Wojciech Wiszniewski Børre Fevang Pål Aukrust Geir E Tjønnfjord Tobias Gedde-Dahl Henrik Hjorth-Hansen Ingunn Dybedal Ingvild Nordøy Silje F Jørgensen Tore G Abrahamsen Torstein Øverland Anne Grete Bechensteen Vegard Skogen Liv T N Osnes Mari Ann Kulseth Trine E Prescott Cecilie F Rustad Ketil R Heimdal John W Belmont Nicholas L Rider Javier Chinen Tram N Cao Eric A Smith Maria Soledad Caldirola Liliana Bezrodnik Saul Oswaldo Lugo Reyes Francisco J Espinosa Rosales Nina Denisse Guerrero-Cursaru Luis Alberto Pedroza Cecilia M Poli Jose L Franco Claudia M Trujillo Vargas Juan Carlos Aldave Becerra Nicola Wright Thomas B Issekutz Andrew C Issekutz Jordan Abbott Jason W Caldwell Diana K Bayer Alice Y Chan Alessandro Aiuti Caterina Cancrini Eva Holmberg Christina West Magnus Burstedt Ender Karaca Gözde Yesil Hasibe Artac Yavuz Bayram Mehmed Musa Atik Mohammad K Eldomery Mohammad S Ehlayel Stephen Jolles Berit Flatø Alison A Bertuch I Celine Hanson Victor W Zhang Lee-Jun Wong Jianhong Hu Magdalena Walkiewicz Yaping Yang Christine M Eng Eric Boerwinkle Richard A Gibbs William T Shearer Robert Lyle Jordan S Orange James R Lupski

J Allergy Clin Immunol 2017 01 16;139(1):232-245. Epub 2016 Jul 16.

Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.05.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222743PMC
January 2017

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

Am J Hum Genet 2015 Nov;97(5):691-707

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297150040
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http://dx.doi.org/10.1016/j.ajhg.2015.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667131PMC
November 2015

DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage.

Science 2015 Aug;349(6249):742-7

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://dx.doi.org/10.1126/science.aaa8391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782627PMC
August 2015

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

Hum Mol Genet 2015 Jul 23;24(14):4061-77. Epub 2015 Apr 23.

Department of Molecular & Human Genetics, Department of Pediatrics and Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA, Texas Children's Hospital, Houston, TX 77030, USA and

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http://dx.doi.org/10.1093/hmg/ddv146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4476451PMC
July 2015

Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.

PLoS Genet 2015 Mar 6;11(3):e1005050. Epub 2015 Mar 6.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America; Department of Pediatrics and Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States of America; Texas Children's Hospital, Houston, Texas, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352052PMC
March 2015

Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination.

BMC Biol 2014 Sep 23;12:74. Epub 2014 Sep 23.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm ABBR-R809, Houston, TX, USA.

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http://dx.doi.org/10.1186/s12915-014-0074-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4195946PMC
September 2014

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.

Am J Hum Genet 2014 Aug 24;95(2):143-61. Epub 2014 Jul 24.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics Laboratories, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.06.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129405PMC
August 2014

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

Eur J Hum Genet 2014 Sep 15;22(9):1145-8. Epub 2014 Jan 15.

1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA [3] Texas Children's Hospital, Houston, TX, USA.

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http://dx.doi.org/10.1038/ejhg.2013.291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135405PMC
September 2014

LINE-1 elements in structural variation and disease.

Annu Rev Genomics Hum Genet 2011 ;12:187-215

Department of Human Genetics, University of MIchigan Medical School, Ann Arbor, Michigan 48109-5618, USA.

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http://www.annualreviews.org/doi/10.1146/annurev-genom-08250
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http://dx.doi.org/10.1146/annurev-genom-082509-141802DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4124830PMC
October 2011

LINE-1 retrotransposition activity in human genomes.

Cell 2010 Jun;141(7):1159-70

Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1016/j.cell.2010.05.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3013285PMC
June 2010