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Author Details

Christine R Beck
University of Connecticut Health Center
2006
41
23
PMIDPaper TitleJournal TitlePublished Year
37294634Co-option of endogenous retroviruses through genetic escape from TRIM28 repression.Cell Rep2023
37612510Assembly of 43 human Y chromosomes reveals extensive complexity and variation.Nature2023
37425850Small allelic variants are a source of ancestral bias in structural variant breakpoint placement.bioRxiv2023
37205567Whole-genome long-read sequencing downsampling and its effect on variant calling precision and recall.bioRxiv2023
37228752Resolution of structural variation in diverse mouse genomes reveals chromatin remodeling due to transposable elements.Cell Genom2023
35044822A comprehensive long-read isoform analysis platform and sequencing resource for breast cancer.Sci Adv2022
35525246Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders.Cell2022
35484572SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing.Genome Med2022
36402840Transposable element-mediated rearrangements are prevalent in human genomes.Nat Commun2022
36109679SVision: a deep learning approach to resolve complex structural variants.Nat Methods2022
33199048Hotspots of Human Mutation.Trends Genet2021
32708087Inter-Strain Epigenomic Profiling Reveals a Candidate IAP Master Copy in C3H Mice.Viruses2020
31907725Structural variant identification and characterization.Chromosome Res2020
32807987Extrachromosomal DNA is associated with oncogene amplification and poor outcome across multiple cancers.Nat Genet2020
30827684Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.Cell2019
31818324Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.Genome Med2019
29505568Spliced integrated retrotransposed element (SpIRE) formation in the human genome.PLoS Biol2018
29907612Predicting human genes susceptible to genomic instability associated with <i>Alu</i>/<i>Alu</i>-mediated rearrangements.Genome Res2018
27577878Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.J Allergy Clin Immunol2017
26739615POGZ truncating alleles cause syndromic intellectual disability.Genome Med2016
26378787The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.Genet Med2016
27799067Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.Genome Med2016
25574841Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.J Clin Invest2015
26544804Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.Am J Hum Genet2015
26273056DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage.Science2015
26641089Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.PLoS Genet2015
25887218PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations.BMC Genomics2015
25886820Assessing structural variation in a personal genome-towards a human reference diploid genome.BMC Genomics2015
25908615Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.Hum Mol Genet2015
25749076Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.PLoS Genet2015
24136616Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.Genet Med2014
25246103Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination.BMC Biol2014
25065914The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.Am J Hum Genet2014
24931394PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.Am J Hum Genet2014
24424126Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.Eur J Hum Genet2014
23553801Transduction-specific ATLAS reveals a cohort of highly active L1 retrotransposons in human populations.Hum Mutat2013
23878096Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.Hum Mutat2013
23847051Curcumin facilitates a transitory cellular stress response in Trembler-J mice.Hum Mol Genet2013
21801021LINE-1 elements in structural variation and disease.Annu Rev Genomics Hum Genet2011
20602998LINE-1 retrotransposition activity in human genomes.Cell2010
16973543Optimization of feline immunodeficiency virus vectors for RNA interference.J Virol2006
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Collaborators

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Co-authored papers 20
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Co-authored papers 11
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Baylor College of Medicine
Co-authored papers 11
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Baylor College of Medicine
Co-authored papers 8
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Institute of Computer Science, Warsaw University of Technology
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Baylor College of Medicine
Co-authored papers 6
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University of Washington
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Baylor College of Medicine
Co-authored papers 5
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Center for Digital Medicine, Heinrich Heine University Dusseldorf
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Marjorie Withers
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Institute of Oceanology, Chinese Academy of Sciences
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Baylor College of Medicine
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Feyza Yilmaz
University of Colorado Denver
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Oregon Health & Sciences University
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Weimin Bi
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Jan O Korbel
European Bioinformatics Institute (EMBL-EBI)
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Vernon R Sutton
Baylor College of Medicine
Co-authored papers 2
Jianhong Hu
Co-authored papers 2
Jeffrey M Kidd
University of Michigan Medical School ann arbor
Co-authored papers 2
Harshavardhan Doddapaneni
Baylor College of Medicine
Co-authored papers 2
Hatip Aydin
Zeynep Kamil Maternity and Children's Training and Research Hospital
Co-authored papers 2
Yaping Yang
Baylor College of Medicine
Co-authored papers 2
Ken Chen
University of Texas MD Anderson Cancer Center
Co-authored papers 1
Kiran Garimella
Co-authored papers 1
David C Schwartz
University of Wisconsin-Madison
Co-authored papers 1
Roel G W Verhaak
Yale School of Medicine
Co-authored papers 1
Bilgen B Geckinli
Marmara University School of Medicine
Co-authored papers 1
Arthur L Beaudet
Baylor College of Medicine
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Release 1.2