Photo of Christine R. Beck, PhD

Christine R. Beck, PhD

Assistant Professor, Genetics and Genome Sciences
Joint Appointment, The Jackson Laboratory for Genomic Medicine
Associate Director, Graduate Program in Genetics and Developmental Biology
Academic Office Location:
Genetics and Genome Sciences
UConn Health
263 Farmington Avenue
Farmington, CT 06030-6403
Phone: 860-837-2173
Email: cbeck@uchc.edu
Website(s):

Laboratory Page

Genetics and Developmental Biology Graduate Program

Molecular Biology & Biochemistry Graduate Program
Education
DegreeInstitutionMajor
BSIowa State UniversityBiochemistry
PhDUniversity of MichiganHuman Genetics

Post-Graduate Training
TrainingInstitutionSpecialty
PostdoctoralBaylor College of MedicineResearch Fellow, Laboratory of Dr. James R. Lupski, M.D., Ph.D., Department of Molecular & Human Genetics

Awards
Name of Award/HonorAwarding Organization
HHMI FellowDamon Runyon Cancer Research Foundation
NIH Brain Disorders and Development Training Program (Post-doctoral, 2012-2013)Baylor College of Medicine, Houston, Texas
Neel FellowshipUniversity of Michigan Department of Human Genetics, Ann Arbor, Michigan
ASHG Trainee Award Semi-FinalistAmerican Society of Human Genetics Annual Meeting, Honolulu, Hawaii
NIH Genome Science Training Program (Pre-doctoral, 2008-2011)University of Michigan, Ann Arbor, Michigan
Anita and Howard Cramer Scholarship AwardUniversity of Michigan Department of Human Genetics, Ann Arbor, Michigan
NIH Genetics Training Grant (Pre-doctoral, 2006-2008)University of Michigan, Ann Arbor, Michigan
Name & DescriptionCategoryRoleTypeScopeStart YearEnd Year
Institute For Systems GenomicsStudy SectionSeed Grant ReviewerUConn-StorrsUniversity2019
American Society of Human Genetics, Annual Meeting Vancouver, Canada , “The Role of DNA Repair in Genomic Variation, Instability, and Human Disease.”Workshop/ConferenceSession ChairExternalInternational20162016
BrainProfessional/Scientific JournalAd Hoc Manuscript ReviewerExternalInternational2012
NeurogeneticsProfessional/Scientific JournalAd Hoc Manuscript ReviewerExternalInternational2012
PLOS GeneticsProfessional/Scientific JournalAd Hoc Manuscript ReviewerExternalNational2012
PRISMS - Parents and Researchers Interested in Smith-Magenis Syndrome.Professional/Scientific OrganizationMemberExternalNational2008

The mechanisms governing non-recurrent human structural variation (SV) are diverse and often poorly understood. I am investigating how human DNA maintains fidelity in the context of a repetitive genome. Human Alu elements number over one million copies per human genome, and recent studies have found that these repeat sequences often mediate SVs in some loci. Through computational, molecular biological and genomic techniques, we will identify regions susceptible to this form of SV and investigate the enzymes that limit or promote Alu-mediated rearrangements. These lines of inquiry could find regions prone to instability in human cancers and lead to targets for therapy.

Accepting Lab Rotation Students: Spring 1 and 2 Block 2025

Journal Articles

  • Complete sequencing of ape genomes.
    Yoo, DongAhn; Rhie, Arang; Hebbar, Prajna; Antonacci, Francesca; Logsdon, Glennis A; Solar, Steven J; Antipov, Dmitry; Pickett, Brandon D; Safonova, Yana; Montinaro, Francesco; Luo, Yanting; Malukiewicz, Joanna; Storer, Jessica M; Lin, Jiadong; Sequeira, Abigail N; Mangan, Riley J; Hickey, Glenn; Monfort Anez, Graciela; Balachandran, Parithi; Bankevich, Anton; Beck, Christine R; Biddanda, Arjun; Borchers, Matthew; Bouffard, Gerard G; Brannan, Emry; Brooks, Shelise Y; Carbone, Lucia; Carrel, Laura; Chan, Agnes P; Crawford, Juyun; Diekhans, Mark; Engelbrecht, Eric; Feschotte, Cedric; Formenti, Giulio; Garcia, Gage H; de Gennaro, Luciana; Gilbert, David; Green, Richard E; Guarracino, Andrea; Gupta, Ishaan; Haddad, Diana; Han, Junmin; Harris, Robert S; Hartley, Gabrielle A; Harvey, William T; Hiller, Michael; Hoekzema, Kendra; Houck, Marlys L; Jeong, Hyeonsoo; Kamali, Kaivan; Kellis, Manolis; Kille, Bryce; Lee, Chul; Lee, Youngho; Lees, William; Lewis, Alexandra P; Li, Qiuhui; Loftus, Mark; Loh, Yong Hwee Eddie; Loucks, Hailey; Ma, Jian; Mao, Yafei; Martinez, Juan F I; Masterson, Patrick; McCoy, Rajiv C; McGrath, Barbara; McKinney, Sean; Meyer, Britta S; Miga, Karen H; Mohanty, Saswat K; Munson, Katherine M; Pal, Karol; Pennell, Matt; Pevzner, Pavel A; Porubsky, David; Potapova, Tamara; Ringeling, Francisca R; Rocha, Joana L; Ryder, Oliver A; Sacco, Samuel; Saha, Swati; Sasaki, Takayo; Schatz, Michael C; Schork, Nicholas J; Shanks, Cole; Smeds, Linnéa; Son, Dongmin R; Steiner, Cynthia; Sweeten, Alexander P; Tassia, Michael G; Thibaud-Nissen, Françoise; Torres-González, Edmundo; Trivedi, Mihir; Wei, Wenjie; Wertz, Julie; Yang, Muyu; Zhang, Panpan; Zhang, Shilong; Zhang, Yang; Zhang, Zhenmiao; Zhao, Sarah A; Zhu, Yixin; Jarvis, Erich D; Gerton, Jennifer L; Rivas-González, Iker; Paten, Benedict; Szpiech, Zachary A; Huber, Christian D; Lenz, Tobias L; Konkel, Miriam K; Yi, Soojin V; Canzar, Stefan; Watson, Corey T; Sudmant, Peter H; Molloy, Erin; Garrison, Erik; Lowe, Craig B; Ventura, Mario; O'Neill, Rachel J; Koren, Sergey; Makova, Kateryna D; Phillippy, Adam M; Eichler, Evan E Nature 2025 May;641(8062):401-418
  • Alternative splicing of transposable elements in human breast cancer.
    Nesta, Alex; Veiga, Diogo F T; Banchereau, Jacques; Anczukow, Olga; Beck, Christine R Mobile DNA 2025 Feb;16(1):6
  • Reconstruction of the human amylase locus reveals ancient duplications seeding modern-day variation.
    Yilmaz, Feyza; Karageorgiou, Charikleia; Kim, Kwondo; Pajic, Petar; Scheer, Kendra; Human Genome Structural Variation Consortium; Beck, Christine R; Torregrossa, Ann-Marie; Lee, Charles; Gokcumen, Omer; Audano, Peter A; Austine-Orimoloye, Olanrewaju; Beck, Christine R; Eichler, Evan E; Hallast, Pille; Harvey, William T; Hastie, Alex R; Hoekzema, Kendra; Hunt, Sarah; Korbel, Jan O; Kordosky, Jennifer; Lee, Charles; Lewis, Alexandra P; Marschall, Tobias; Munson, Katherine M; Pang, Andy; Yilmaz, Feyza Science (New York, N.Y.) 2024 Nov;386(6724):eadn0609
  • Decoding Spatial Tissue Architecture: A Scalable Bayesian Topic Model for Multiplexed Imaging Analysis.
    Peng, Xiyu; Smithy, James W; Yosofvand, Mohammad; Kostrzewa, Caroline E; Bleile, MaryLena; Ehrich, Fiona D; Lee, Jasme; Postow, Michael A; Callahan, Margaret K; Panageas, Katherine S; Shen, Ronglai bioRxiv : the preprint server for biology 2024 Nov;
  • Small polymorphisms are a source of ancestral bias in structural variant breakpoint placement.
    Audano, Peter A; Beck, Christine R Genome research 2024 Feb;34(1):7-19
  • Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall.
    Harvey, William T; Ebert, Peter; Ebler, Jana; Audano, Peter A; Munson, Katherine M; Hoekzema, Kendra; Porubsky, David; Beck, Christine R; Marschall, Tobias; Garimella, Kiran; Eichler, Evan E Genome research 2023 Dec;33(12):2029-2040
  • Assembly of 43 human Y chromosomes reveals extensive complexity and variation.
    Hallast, Pille; Ebert, Peter; Loftus, Mark; Yilmaz, Feyza; Audano, Peter A; Logsdon, Glennis A; Bonder, Marc Jan; Zhou, Weichen; Höps, Wolfram; Kim, Kwondo; Li, Chong; Hoyt, Savannah J; Dishuck, Philip C; Porubsky, David; Tsetsos, Fotios; Kwon, Jee Young; Zhu, Qihui; Munson, Katherine M; Hasenfeld, Patrick; Harvey, William T; Lewis, Alexandra P; Kordosky, Jennifer; Hoekzema, Kendra; Human Genome Structural Variation Consortium (HGSVC); O'Neill, Rachel J; Korbel, Jan O; Tyler-Smith, Chris; Eichler, Evan E; Shi, Xinghua; Beck, Christine R; Marschall, Tobias; Konkel, Miriam K; Lee, Charles Nature 2023 Sep;621(7978):355-364
  • Co-option of endogenous retroviruses through genetic escape from TRIM28 repression.
    Enriquez-Gasca, Rocio; Gould, Poppy A; Tunbak, Hale; Conde, Lucia; Herrero, Javier; Chittka, Alexandra; Beck, Christine R; Gifford, Robert; Rowe, Helen M Cell reports 2023 Jun;42(6):112625
  • Resolution of structural variation in diverse mouse genomes reveals chromatin remodeling due to transposable elements.
    Ferraj, Ardian; Audano, Peter A; Balachandran, Parithi; Czechanski, Anne; Flores, Jacob I; Radecki, Alexander A; Mosur, Varun; Gordon, David S; Walawalkar, Isha A; Eichler, Evan E; Reinholdt, Laura G; Beck, Christine R Cell genomics 2023 May;3(5):100291
  • Whole-genome long-read sequencing downsampling and its effect on variant calling precision and recall.
    Harvey, William T; Ebert, Peter; Ebler, Jana; Audano, Peter A; Munson, Katherine M; Hoekzema, Kendra; Porubsky, David; Beck, Christine R; Marschall, Tobias; Garimella, Kiran; Eichler, Evan E bioRxiv : the preprint server for biology 2023 May;
  • Transposable element-mediated rearrangements are prevalent in human genomes.
    Balachandran, Parithi; Walawalkar, Isha A; Flores, Jacob I; Dayton, Jacob N; Audano, Peter A; Beck, Christine R Nature communications 2022 Nov;13(1):7115
  • SVision: a deep learning approach to resolve complex structural variants.
    Lin, Jiadong; Wang, Songbo; Audano, Peter A; Meng, Deyu; Flores, Jacob I; Kosters, Walter; Yang, Xiaofei; Jia, Peng; Marschall, Tobias; Beck, Christine R; Ye, Kai Nature methods 2022 Oct;19(10):1230-1233
  • Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders.
    Porubsky, David; Höps, Wolfram; Ashraf, Hufsah; Hsieh, PingHsun; Rodriguez-Martin, Bernardo; Yilmaz, Feyza; Ebler, Jana; Hallast, Pille; Maria Maggiolini, Flavia Angela; Harvey, William T; Henning, Barbara; Audano, Peter A; Gordon, David S; Ebert, Peter; Hasenfeld, Patrick; Benito, Eva; Zhu, Qihui; Human Genome Structural Variation Consortium (HGSVC); Lee, Charles; Antonacci, Francesca; Steinrücken, Matthias; Beck, Christine R; Sanders, Ashley D; Marschall, Tobias; Eichler, Evan E; Korbel, Jan O Cell 2022 May;185(11):1986-2005.e26
  • SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing.
    Danis, Daniel; Jacobsen, Julius O B; Balachandran, Parithi; Zhu, Qihui; Yilmaz, Feyza; Reese, Justin; Haimel, Matthias; Lyon, Gholson J; Helbig, Ingo; Mungall, Christopher J; Beck, Christine R; Lee, Charles; Smedley, Damian; Robinson, Peter N Genome medicine 2022 Apr;14(1):44
  • A comprehensive long-read isoform analysis platform and sequencing resource for breast cancer.
    Veiga, Diogo F T; Nesta, Alex; Zhao, Yuqi; Mays, Anne Deslattes; Huynh, Richie; Rossi, Robert; Wu, Te-Chia; Palucka, Karolina; Anczukow, Olga; Beck, Christine R; Banchereau, Jacques Science advances 2022 Jan;8(3):eabg6711
  • Hotspots of Human Mutation.
    Nesta, Alex V; Tafur, Denisse; Beck, Christine R Trends in genetics : TIG 2020 Nov;
  • Extrachromosomal DNA is associated with oncogene amplification and poor outcome across multiple cancers.
    Kim, Hoon; Nguyen, Nam-Phuong; Turner, Kristen; Wu, Sihan; Gujar, Amit D; Luebeck, Jens; Liu, Jihe; Deshpande, Viraj; Rajkumar, Utkrisht; Namburi, Sandeep; Amin, Samirkumar B; Yi, Eunhee; Menghi, Francesca; Schulte, Johannes H; Henssen, Anton G; Chang, Howard Y; Beck, Christine R; Mischel, Paul S; Bafna, Vineet; Verhaak, Roel G W Nature genetics 2020 Sep;52(9):891-897
  • Inter-Strain Epigenomic Profiling Reveals a Candidate IAP Master Copy in C3H Mice.
    Rebollo, Rita; Galvão-Ferrarini, Mariana; Gagnier, Liane; Zhang, Ying; Ferraj, Ardian; Beck, Christine R; Lorincz, Matthew C; Mager, Dixie L Viruses 2020 Jul;12(7):
  • Structural variant identification and characterization.
    Balachandran, Parithi; Beck, Christine R Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 2020 Jan;
  • Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.
    Bahrambeigi, Vahid; Song, Xiaofei; Sperle, Karen; Beck, Christine R; Hijazi, Hadia; Grochowski, Christopher M; Gu, Shen; Seeman, Pavel; Woodward, Karen J; Carvalho, Claudia M B; Hobson, Grace M; Lupski, James R Genome medicine 2019 Dec;11(1):80
  • Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.
    Beck, Christine R; Carvalho, Claudia M B; Akdemir, Zeynep C; Sedlazeck, Fritz J; Song, Xiaofei; Meng, Qingchang; Hu, Jianhong; Doddapaneni, Harsha; Chong, Zechen; Chen, Edward S; Thornton, Philip C; Liu, Pengfei; Yuan, Bo; Withers, Marjorie; Jhangiani, Shalini N; Kalra, Divya; Walker, Kimberly; English, Adam C; Han, Yi; Chen, Ken; Muzny, Donna M; Ira, Grzegorz; Shaw, Chad A; Gibbs, Richard A; Hastings, P J; Lupski, James R Cell 2019 Mar;176(6):1310-1324.e10
  • Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements.
    Song, Xiaofei; Beck, Christine R; Du, Renqian; Campbell, Ian M; Coban-Akdemir, Zeynep; Gu, Shen; Breman, Amy M; Stankiewicz, Pawel; Ira, Grzegorz; Shaw, Chad A; Lupski, James R Genome research 2018 Aug;28(8):1228-1242
  • Spliced integrated retrotransposed element (SpIRE) formation in the human genome.
    Larson, Peter A; Moldovan, John B; Jasti, Naveen; Kidd, Jeffrey M; Beck, Christine R; Moran, John V PLoS biology 2018 Mar;16(3):e2003067
  • Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
    Stray-Pedersen, Asbjørg; Sorte, Hanne Sørmo; Samarakoon, Pubudu; Gambin, Tomasz; Chinn, Ivan K; Akdemir, Zeynep H Coban; Erichsen, Hans Christian; Forbes, Lisa R; Gu, Shen; Yuan, Bo; Jhangiani, Shalini N; Muzny, Donna M; Rødningen, Olaug Kristin; Sheng, Ying; Nicholas, Sarah K; Noroski, Lenora M; Seeborg, Filiz O; Davis, Carla; Canter, Debra; Mace, Emily M; Vece, Tim; Allen, Carl E; Abhyankar, Harshal A; Boone, Phil; Beck, Christine R; Wiszniewski, Wojciech Krysztof; Fevang, Børre; Aukrust, Pål; Tjønnfjord, Geir E; Gedde-Dahl, Tobias; Hjorth-Hansen, Henrik; Dybedal, Ingunn; Nordøy, Ingvild; Jørgensen, Silje F; Abrahamsen, Tore G; Øverland, Torstein; Bechensteen, Anne Grete; Skogen, Vegard; Osnes, Liv T; Kulseth, Mari Ann; Prescott, Trine E; Rustad, Cecilie F; Heimdal, Ketil R; Belmont, John W; Rider, Nicholas; Chinen, Javier; Cao, Tram; Smith, Eric; Caldirola, Maria Soledad; Bezrodnik, Liliana; Reyes, Saul Oswaldo Lugo; Rosales, Francisco J Espinosa; Guerrero, Denisse; Pedroza, Luis Alberto; Poli, Cecilia M; Franco, Jose L; Vargas, Claudia M Trujillo; Becerra, Juan Carlos Aldave; Wright, Nicola; Issekutz, Thomas B; Issekutz, Andrew C; Abbott, Jordan; Caldwell, Jason W; Bayer, Diana K; Chan, Alice Y; Aiuti, Alessandro; Cancrini, Caterina; Holmberg, Eva; West, Christina; Burstedt, Magnus; Karaca, Ender; Yesil, Gozde; Artac, Hasibe; Bayram, Yavuz; Atik, Mehmed Musa; Eldomery, Mohammad K; Ehlayel, Mohammad S; Jolles, Stephen; Flatø, Berit; Bertuch, Alison A; Hanson, I Celine; Zhang, Victor W; Wong, Lee-Jun; Hu, Jianhong; Walkiewicz, Magdalena; Yang, Yaping; Eng, Christine; Boerwinkle, Eric; Gibbs, Richard A; Shearer, William T; Lyle, Robert; Orange, Jordan S; Lupski, James R The Journal of allergy and clinical immunology 2017 Jan;139(1):232-245
  • Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
    Loviglio, Maria Nicla; Beck, Christine R; White, Janson J; Leleu, Marion; Harel, Tamar; Guex, Nicolas; Niknejad, Anne; Bi, Weimin; Chen, Edward S; Crespo, Isaac; Yan, Jiong; Charng, Wu-Lin; Gu, Shen; Fang, Ping; Coban-Akdemir, Zeynep; Shaw, Chad A; Jhangiani, Shalini N; Muzny, Donna M; Gibbs, Richard A; Rougemont, Jacques; Xenarios, Ioannis; Lupski, James R; Reymond, Alexandre Genome medicine 2016 Nov;8(1):105
  • The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
    Pehlivan, Davut; Beck, Christine R; Okamoto, Yuji; Harel, Tamar; Akdemir, Zeynep H C; Jhangiani, Shalini N; Withers, Marjorie A; Goksungur, Meryem Tuba; Carvalho, Claudia M B; Czesnik, Dirk; Gonzaga-Jauregui, Claudia; Wiszniewski, Wojciech; Muzny, Donna M; Gibbs, Richard A; Rautenstrauss, Bernd; Sereda, Michael W; Lupski, James R Genetics in medicine : official journal of the American College of Medical Genetics 2016 May;18(5):443-51
  • POGZ truncating alleles cause syndromic intellectual disability.
    White, Janson; Beck, Christine R; Harel, Tamar; Posey, Jennifer E; Jhangiani, Shalini N; Tang, Sha; Farwell, Kelly D; Powis, Zöe; Mendelsohn, Nancy J; Baker, Janice A; Pollack, Lynda; Mason, Kati J; Wierenga, Klaas J; Arrington, Daniel K; Hall, Melissa; Psychogios, Apostolos; Fairbrother, Laura; Walkiewicz, Magdalena; Person, Richard E; Niu, Zhiyv; Zhang, Jing; Rosenfeld, Jill A; Muzny, Donna M; Eng, Christine; Beaudet, Arthur L; Lupski, James R; Boerwinkle, Eric; Gibbs, Richard A; Yang, Yaping; Xia, Fan; Sutton, V Reid Genome medicine 2016 Jan;8(1):3
  • Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.
    Yuan, Bo; Liu, Pengfei; Gupta, Aditya; Beck, Christine R; Tejomurtula, Anusha; Campbell, Ian M; Gambin, Tomasz; Simmons, Alexandra D; Withers, Marjorie A; Harris, R Alan; Rogers, Jeffrey; Schwartz, David C; Lupski, James R PLoS genetics 2015 Dec;11(12):e1005686
  • Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
    Yuan, Bo; Harel, Tamar; Gu, Shen; Liu, Pengfei; Burglen, Lydie; Chantot-Bastaraud, Sandra; Gelowani, Violet; Beck, Christine R; Carvalho, Claudia M B; Cheung, Sau Wai; Coe, Andrew; Malan, Valérie; Munnich, Arnold; Magoulas, Pilar L; Potocki, Lorraine; Lupski, James R American journal of human genetics 2015 Nov;97(5):691-707
  • DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage.
    Mayle, Ryan; Campbell, Ian M; Beck, Christine R; Yu, Yang; Wilson, Marenda; Shaw, Chad A; Bjergbaek, Lotte; Lupski, James R; Ira, Grzegorz Science (New York, N.Y.) 2015 Aug;349(6249):742-7
  • Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
    Gu, Shen; Yuan, Bo; Campbell, Ian M; Beck, Christine R; Carvalho, Claudia M B; Nagamani, Sandesh C S; Erez, Ayelet; Patel, Ankita; Bacino, Carlos A; Shaw, Chad A; Stankiewicz, Pawel; Cheung, Sau Wai; Bi, Weimin; Lupski, James R Human molecular genetics 2015 Jul;24(14):4061-77
  • Assessing structural variation in a personal genome-towards a human reference diploid genome.
    English, Adam C; Salerno, William J; Hampton, Oliver A; Gonzaga-Jauregui, Claudia; Ambreth, Shruthi; Ritter, Deborah I; Beck, Christine R; Davis, Caleb F; Dahdouli, Mahmoud; Ma, Singer; Carroll, Andrew; Veeraraghavan, Narayanan; Bruestle, Jeremy; Drees, Becky; Hastie, Alex; Lam, Ernest T; White, Simon; Mishra, Pamela; Wang, Min; Han, Yi; Zhang, Feng; Stankiewicz, Pawel; Wheeler, David A; Reid, Jeffrey G; Muzny, Donna M; Rogers, Jeffrey; Sabo, Aniko; Worley, Kim C; Lupski, James R; Boerwinkle, Eric; Gibbs, Richard A BMC genomics 2015 Apr;16286
  • PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations.
    Wang, Min; Beck, Christine R; English, Adam C; Meng, Qingchang; Buhay, Christian; Han, Yi; Doddapaneni, Harsha V; Yu, Fuli; Boerwinkle, Eric; Lupski, James R; Muzny, Donna M; Gibbs, Richard A BMC genomics 2015 Mar;16214
  • Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
    Beck, Christine R; Carvalho, Claudia M B; Banser, Linda; Gambin, Tomasz; Stubbolo, Danielle; Yuan, Bo; Sperle, Karen; McCahan, Suzanne M; Henneke, Marco; Seeman, Pavel; Garbern, James Y; Hobson, Grace M; Lupski, James R PLoS genetics 2015 Mar;11(3):e1005050
  • Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
    Yuan, Bo; Pehlivan, Davut; Karaca, Ender; Patel, Nisha; Charng, Wu-Lin; Gambin, Tomasz; Gonzaga-Jauregui, Claudia; Sutton, V Reid; Yesil, Gozde; Bozdogan, Sevcan Tug; Tos, Tulay; Koparir, Asuman; Koparir, Erkan; Beck, Christine R; Gu, Shen; Aslan, Huseyin; Yuregir, Ozge Ozalp; Al Rubeaan, Khalid; Alnaqeb, Dhekra; Alshammari, Muneera J; Bayram, Yavuz; Atik, Mehmed M; Aydin, Hatip; Geckinli, B Bilge; Seven, Mehmet; Ulucan, Hakan; Fenercioglu, Elif; Ozen, Mustafa; Jhangiani, Shalini; Muzny, Donna M; Boerwinkle, Eric; Tuysuz, Beyhan; Alkuraya, Fowzan S; Gibbs, Richard A; Lupski, James R The Journal of clinical investigation 2015 Feb;125(2):636-51
  • Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination.
    Campbell, Ian M; Gambin, Tomasz; Dittwald, Piotr; Beck, Christine R; Shuvarikov, Andrey; Hixson, Patricia; Patel, Ankita; Gambin, Anna; Shaw, Chad A; Rosenfeld, Jill A; Stankiewicz, Pawel BMC biology 2014 Sep;1274
  • The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
    Boone, Philip M; Yuan, Bo; Campbell, Ian M; Scull, Jennifer C; Withers, Marjorie A; Baggett, Brett C; Beck, Christine R; Shaw, Christine J; Stankiewicz, Pawel; Moretti, Paolo; Goodwin, Wendy E; Hein, Nichole; Fink, John K; Seong, Moon-Woo; Seo, Soo Hyun; Park, Sung Sup; Karbassi, Izabela D; Batish, Sat Dev; Ordóñez-Ugalde, Andrés; Quintáns, Beatriz; Sobrido, María-Jesús; Stemmler, Susanne; Lupski, James R American journal of human genetics 2014 Aug;95(2):143-61
  • PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
    Stray-Pedersen, Asbjørg; Backe, Paul H; Sorte, Hanne S; Mørkrid, Lars; Chokshi, Niti Y; Erichsen, Hans Christian; Gambin, Tomasz; Elgstøen, Katja B P; Bjørås, Magnar; Wlodarski, Marcin W; Krüger, Marcus; Jhangiani, Shalini N; Muzny, Donna M; Patel, Ankita; Raymond, Kimiyo M; Sasa, Ghadir S; Krance, Robert A; Martinez, Caridad A; Abraham, Shirley M; Speckmann, Carsten; Ehl, Stephan; Hall, Patricia; Forbes, Lisa R; Merckoll, Else; Westvik, Jostein; Nishimura, Gen; Rustad, Cecilie F; Abrahamsen, Tore G; Rønnestad, Arild; Osnes, Liv T; Egeland, Torstein; Rødningen, Olaug K; Beck, Christine R; Baylor-Johns Hopkins Center for Mendelian Genomics; Boerwinkle, Eric A; Gibbs, Richard A; Lupski, James R; Orange, Jordan S; Lausch, Ekkehart; Hanson, I Celine American journal of human genetics 2014 Jul;95(1):96-107
  • Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.
    Okamoto, Yuji; Goksungur, Meryem Tuba; Pehlivan, Davut; Beck, Christine R; Gonzaga-Jauregui, Claudia; Muzny, Donna M; Atik, Mehmed M; Carvalho, Claudia M B; Matur, Zeliha; Bayraktar, Serife; Boone, Philip M; Akyuz, Kaya; Gibbs, Richard A; Battaloglu, Esra; Parman, Yesim; Lupski, James R Genetics in medicine : official journal of the American College of Medical Genetics 2014 May;16(5):386-394
  • Curcumin facilitates a transitory cellular stress response in Trembler-J mice.
    Okamoto, Yuji; Pehlivan, Davut; Wiszniewski, Wojciech; Beck, Christine R; Snipes, G Jackson; Lupski, James R; Khajavi, Mehrdad Human molecular genetics 2013 Dec;22(23):4698-705
  • Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.
    Shuvarikov, Andrey; Campbell, Ian M; Dittwald, Piotr; Neill, Nicholas J; Bialer, Martin G; Moore, Christine; Wheeler, Patricia G; Wallace, Stephanie E; Hannibal, Mark C; Murray, Michael F; Giovanni, Monica A; Terespolsky, Deborah; Sodhi, Sandi; Cassina, Matteo; Viskochil, David; Moghaddam, Billur; Herman, Kristin; Brown, Chester W; Beck, Christine R; Gambin, Anna; Cheung, Sau Wai; Patel, Ankita; Lamb, Allen N; Shaffer, Lisa G; Ellison, Jay W; Ravnan, J Britt; Stankiewicz, Pawel; Rosenfeld, Jill A Human mutation 2013 Oct;34(10):1415-23
  • Transduction-specific ATLAS reveals a cohort of highly active L1 retrotransposons in human populations.
    Macfarlane, Catriona M; Collier, Pamela; Rahbari, Raheleh; Beck, Christine R; Wagstaff, John F; Igoe, Samantha; Moran, John V; Badge, Richard M Human mutation 2013 Jul;34(7):974-85
  • Macrophage migration inhibitory factor acts as a neurotrophin in the developing inner ear.
    Bank, Lisa M; Bianchi, Lynne M; Ebisu, Fumi; Lerman-Sinkoff, Dov; Smiley, Elizabeth C; Shen, Yu-chi; Ramamurthy, Poornapriya; Thompson, Deborah L; Roth, Therese M; Beck, Christine R; Flynn, Matthew; Teller, Ryan S; Feng, Luming; Llewellyn, G Nicholas; Holmes, Brandon; Sharples, Cyrrene; Coutinho-Budd, Jaeda; Linn, Stephanie A; Chervenak, Andrew P; Dolan, David F; Benson, Jennifer; Kanicki, Ariane; Martin, Catherine A; Altschuler, Richard; Koch, Alisa E; Koch, Alicia E; Jewett, Ethan M; Germiller, John A; Barald, Kate F Development (Cambridge, England) 2012 Dec;139(24):4666-74
  • LINE-1 elements in structural variation and disease.
    Beck, Christine R; Garcia-Perez, José Luis; Badge, Richard M; Moran, John V Annual review of genomics and human genetics 2011 Jan;12187-215
  • LINE-1 retrotransposition activity in human genomes.
    Beck, Christine R; Collier, Pamela; Macfarlane, Catriona; Malig, Maika; Kidd, Jeffrey M; Eichler, Evan E; Badge, Richard M; Moran, John V Cell 2010 Jun;141(7):1159-70
  • Optimization of feline immunodeficiency virus vectors for RNA interference.
    Harper, Scott Q; Staber, Patrick D; Beck, Christine R; Fineberg, Sarah K; Stein, Colleen; Ochoa, Dalyz; Davidson, Beverly L Journal of virology 2006 Oct;80(19):9371-80

Case Reports

Title or AbstractTypeSponsor/EventDate/YearLocation
Resolution of structural variation in diverse mouse genomes reveals chromatin remodeling due to transposable elementsTalkBiology of Genomes2023Cold Spring Harbor, NY
The Role of Transposable Elements in Genomic VariationTalkThe Stanford Genetics Conference on Structural Variants and DNA Repeats2023Stanford, California
Transposable element-mediated rearrangements in mammalian genomesOtherParis Winter Course on The Genomics of Transposable Elements2023Paris, France
Mechanisms of Structural VariationTalkWorkshop on long-read sequencing2019The Jackson Laboratory for Genomic Medicine
Transposable Element Mediated Rearrangements are Prevalent in Human GenomesPosterAmerican Society of Human Genetics2019Houston, Texas
Mechanisms and Impact of Structural VariationTalkThe University of Connecticut MCB Fall Seminar Series2019Storrs, Connecticut
Repetitive Sequences and Genomic PlasticityTalkThe University of Connecticut2018Connecticut
Repetitive Sequences and Genomic PlasticityTalkAnnual New England Genome Instability and Cancer Conference2018Worcester, Massachussetts
Repetitive Sequences and Genomic ChangeTalkBig Data for Genomics Professors2018The Jackson Laboratory for Genomic medicine
Human Genomic Rearrangements and Homologous SequencesTalkMemorial Sloane Kettering Cancer Center2018New York, New York
Structural Variation and Processes of Genomic MutationTalkThe Jackson Laboratory2018Farmington, Connecticut
Structural Variation and Homologous sequencesTalkInstitute for Systems Genomics Networking Workshop2018Storrs, Connecticut
The use of capture and long-read PacBio sequencing for clinically relevant loci. Invited SpeakerTalkEuropean Society of Human Genetics PacBio Satellite Meeting2016Barcelona, Spain
Integration of exome sequencing and genomic analyses reveals potential Smith-Magenis-like causative genesTalkParents Researchers Int. Smith-Magenis Syndrome (PRISMS) Research Symposium2016Houston,Texas
Targeted Capture and SMRT sequencing for Complex Genomic Loci. Invited SpeakerTalkPacBio Users Group Meeting2016Stanford, California
Mechanisms for DNA Rearrangements in Genomic Disorders- From the Bedside to the Bench Side. Invited SpeakerTalkAmerican Society of Human Genetics Meeting2016Vancouver, Canada
Smith-Magenis Syndrome and Complex Genomic RearrangementsTalkParents Researchers Int. Smith-Magenis Syndrome (PRISMS) Research Symposium2014St. Louis, Missouri
Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and QuadruplicationTalkPersonal Genomes: Discovery, Treatment & Outcomes Meeting2014Cold Spring Harbor Labs, New York
PacBio Long-Read-Length Sequencing for Structural Variation Analysis of the Human GenomeTalkPersonal Genomes Meeting2013Cold Spring Harbor Labs, New York
The Molecular Basis of Phenotypic Variation in Smith-Magenis and Potocki-Lupski SyndromesTalkParents Researchers Int. Smith-Magenis Syndrome (PRISMS) Research Symposium2012Denver, Colorado
LINE-1 variation in human genomes.TalkAmerican Society of Human Genetics2009Honolulu, Hawaii.