Photo of Christine R. Beck, Ph.D.

Christine R. Beck, Ph.D.

Assistant Professor, Genetics and Genome Sciences
Joint Appointment, The Jackson Laboratory for Genomic Medicine
Academic Office Location:
Genetics and Genome Sciences
UConn Health
263 Farmington Avenue
Farmington, CT 06030-6403
Phone: 860-837-2173
Email: cbeck@uchc.edu
Education
DegreeInstitutionMajor
B.S.Iowa State UniversityBiochemistry
Ph.D.University 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
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
American Society of Human Genetics, Annual Meeting Vancouver, Canada , “The Role of DNA Repair in Genomic Variation, Instability, and Human Disease.”Workshop/ConferenceSession ChairExternalNational20162016
Genome ResearchProfessional/Scientific JournalAd Hoc Manuscript ReviewerExternalInternational2012
Genetics in MedicineProfessional/Scientific JournalAd Hoc Manuscript ReviewerExternalInternational2012
BrainProfessional/Scientific JournalAd Hoc Manuscript ReviewerExternalInternational2012
NeurogeneticsProfessional/Scientific JournalAd Hoc Manuscript ReviewerExternalInternational2012
PLOS OneProfessional/Scientific JournalAd Hoc Manuscript ReviewerExternalNational2012
American Society of Human GeneticsProfessional/Scientific OrganizationMemberExternalNational2008
PRISMS - Parents and Researchers Interested in Smith-Magenis Syndrome.Professional/Scientific OrganizationMemberExternalNational2008

Journal Articles

  • 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
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.