Faculty Directory › UConn Health

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

Degree	Institution	Major
BS	Iowa State University	Biochemistry
PhD	University of Michigan	Human Genetics

Degree

Institution

Major

Iowa State University

Biochemistry

PhD

University of Michigan

Human Genetics

Post-Graduate Training

Training	Institution	Specialty
Postdoctoral	Baylor College of Medicine	Research Fellow, Laboratory of Dr. James R. Lupski, M.D., Ph.D., Department of Molecular & Human Genetics

Training

Institution

Specialty

Postdoctoral

Baylor College of Medicine

Research Fellow, Laboratory of Dr. James R. Lupski, M.D., Ph.D., Department of Molecular & Human Genetics

Awards

Name of Award/Honor	Awarding Organization
HHMI Fellow	Damon Runyon Cancer Research Foundation
NIH Brain Disorders and Development Training Program (Post-doctoral, 2012-2013)	Baylor College of Medicine, Houston, Texas
Neel Fellowship	University of Michigan Department of Human Genetics, Ann Arbor, Michigan
ASHG Trainee Award Semi-Finalist	American 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 Award	University of Michigan Department of Human Genetics, Ann Arbor, Michigan
NIH Genetics Training Grant (Pre-doctoral, 2006-2008)	University of Michigan, Ann Arbor, Michigan

Name of Award/Honor

Awarding Organization

HHMI Fellow

Damon Runyon Cancer Research Foundation

NIH Brain Disorders and Development Training Program (Post-doctoral, 2012-2013)

Baylor College of Medicine, Houston, Texas

Neel Fellowship

University of Michigan Department of Human Genetics, Ann Arbor, Michigan

ASHG Trainee Award Semi-Finalist

American 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 Award

University of Michigan Department of Human Genetics, Ann Arbor, Michigan

NIH Genetics Training Grant (Pre-doctoral, 2006-2008)

University of Michigan, Ann Arbor, Michigan

Name & Description	Category	Role	Type	Scope	Start Year	End Year
Institute For Systems Genomics	Study Section	Seed Grant Reviewer	UConn-Storrs	University	2019
American Society of Human Genetics, Annual Meeting Vancouver, Canada , “The Role of DNA Repair in Genomic Variation, Instability, and Human Disease.”	Workshop/Conference	Session Chair	External	International	2016	2016
Brain	Professional/Scientific Journal	Ad Hoc Manuscript Reviewer	External	International	2012
Neurogenetics	Professional/Scientific Journal	Ad Hoc Manuscript Reviewer	External	International	2012
PLOS Genetics	Professional/Scientific Journal	Ad Hoc Manuscript Reviewer	External	National	2012
PRISMS - Parents and Researchers Interested in Smith-Magenis Syndrome.	Professional/Scientific Organization	Member	External	National	2008

Name & Description

Journal Articles

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

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.
Pehlivan, Davut; Karaca, Ender; Aydin, Hatip; Beck, Christine R; Gambin, Tomasz; Muzny, Donna M; Bilge Geckinli, B; Karaman, Ali; Jhangiani, Shalini N; Centers for Mendelian Genomics; Gibbs, Richard A; Lupski, James R European journal of human genetics : EJHG 2014 Sep;22(9):1145-8

Title or Abstract	Type	Sponsor/Event	Date/Year	Location
Resolution of structural variation in diverse mouse genomes reveals chromatin remodeling due to transposable elements	Talk	Biology of Genomes	2023	Cold Spring Harbor, NY
The Role of Transposable Elements in Genomic Variation	Talk	The Stanford Genetics Conference on Structural Variants and DNA Repeats	2023	Stanford, California
Transposable element-mediated rearrangements in mammalian genomes	Other	Paris Winter Course on The Genomics of Transposable Elements	2023	Paris, France
Mechanisms of Structural Variation	Talk	Workshop on long-read sequencing	2019	The Jackson Laboratory for Genomic Medicine
Transposable Element Mediated Rearrangements are Prevalent in Human Genomes	Poster	American Society of Human Genetics	2019	Houston, Texas
Mechanisms and Impact of Structural Variation	Talk	The University of Connecticut MCB Fall Seminar Series	2019	Storrs, Connecticut
Repetitive Sequences and Genomic Plasticity	Talk	The University of Connecticut	2018	Connecticut
Repetitive Sequences and Genomic Plasticity	Talk	Annual New England Genome Instability and Cancer Conference	2018	Worcester, Massachussetts
Repetitive Sequences and Genomic Change	Talk	Big Data for Genomics Professors	2018	The Jackson Laboratory for Genomic medicine
Human Genomic Rearrangements and Homologous Sequences	Talk	Memorial Sloane Kettering Cancer Center	2018	New York, New York
Structural Variation and Processes of Genomic Mutation	Talk	The Jackson Laboratory	2018	Farmington, Connecticut
Structural Variation and Homologous sequences	Talk	Institute for Systems Genomics Networking Workshop	2018	Storrs, Connecticut
The use of capture and long-read PacBio sequencing for clinically relevant loci. Invited Speaker	Talk	European Society of Human Genetics PacBio Satellite Meeting	2016	Barcelona, Spain
Integration of exome sequencing and genomic analyses reveals potential Smith-Magenis-like causative genes	Talk	Parents Researchers Int. Smith-Magenis Syndrome (PRISMS) Research Symposium	2016	Houston,Texas
Targeted Capture and SMRT sequencing for Complex Genomic Loci. Invited Speaker	Talk	PacBio Users Group Meeting	2016	Stanford, California
Mechanisms for DNA Rearrangements in Genomic Disorders- From the Bedside to the Bench Side. Invited Speaker	Talk	American Society of Human Genetics Meeting	2016	Vancouver, Canada
Smith-Magenis Syndrome and Complex Genomic Rearrangements	Talk	Parents Researchers Int. Smith-Magenis Syndrome (PRISMS) Research Symposium	2014	St. Louis, Missouri
Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication	Talk	Personal Genomes: Discovery, Treatment & Outcomes Meeting	2014	Cold Spring Harbor Labs, New York
PacBio Long-Read-Length Sequencing for Structural Variation Analysis of the Human Genome	Talk	Personal Genomes Meeting	2013	Cold Spring Harbor Labs, New York
The Molecular Basis of Phenotypic Variation in Smith-Magenis and Potocki-Lupski Syndromes	Talk	Parents Researchers Int. Smith-Magenis Syndrome (PRISMS) Research Symposium	2012	Denver, Colorado
LINE-1 variation in human genomes.	Talk	American Society of Human Genetics	2009	Honolulu, Hawaii.

Title or Abstract

Type

Sponsor/Event

Date/Year

Location

Resolution of structural variation in diverse mouse genomes reveals chromatin remodeling due to transposable elements

Talk

Biology of Genomes

2023

Cold Spring Harbor, NY

The Role of Transposable Elements in Genomic Variation

Talk

The Stanford Genetics Conference on Structural Variants and DNA Repeats

2023

Stanford, California

Transposable element-mediated rearrangements in mammalian genomes

Other

Paris Winter Course on The Genomics of Transposable Elements

2023

Paris, France

Mechanisms of Structural Variation

Talk

Workshop on long-read sequencing

2019

The Jackson Laboratory for Genomic Medicine

Transposable Element Mediated Rearrangements are Prevalent in Human Genomes

Poster

American Society of Human Genetics

2019

Houston, Texas

Mechanisms and Impact of Structural Variation

Talk

The University of Connecticut MCB Fall Seminar Series

2019

Storrs, Connecticut

Repetitive Sequences and Genomic Plasticity

Talk

The University of Connecticut

2018

Connecticut

Repetitive Sequences and Genomic Plasticity

Talk

Annual New England Genome Instability and Cancer Conference

2018

Worcester, Massachussetts

Repetitive Sequences and Genomic Change

Talk

Big Data for Genomics Professors

2018

The Jackson Laboratory for Genomic medicine

Human Genomic Rearrangements and Homologous Sequences

Talk

Memorial Sloane Kettering Cancer Center

2018

New York, New York

Structural Variation and Processes of Genomic Mutation

Talk

The Jackson Laboratory

2018

Farmington, Connecticut

Structural Variation and Homologous sequences

Talk

Institute for Systems Genomics Networking Workshop

2018

Storrs, Connecticut

The use of capture and long-read PacBio sequencing for clinically relevant loci. Invited Speaker

Talk

European Society of Human Genetics PacBio Satellite Meeting

2016

Barcelona, Spain

Integration of exome sequencing and genomic analyses reveals potential Smith-Magenis-like causative genes

Talk

Parents Researchers Int. Smith-Magenis Syndrome (PRISMS) Research Symposium

2016

Houston,Texas

Targeted Capture and SMRT sequencing for Complex Genomic Loci. Invited Speaker

Talk

PacBio Users Group Meeting

2016

Stanford, California

Mechanisms for DNA Rearrangements in Genomic Disorders- From the Bedside to the Bench Side. Invited Speaker

Talk

American Society of Human Genetics Meeting

2016

Vancouver, Canada

Smith-Magenis Syndrome and Complex Genomic Rearrangements

Talk

Parents Researchers Int. Smith-Magenis Syndrome (PRISMS) Research Symposium

2014

St. Louis, Missouri

Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

Talk

Personal Genomes: Discovery, Treatment & Outcomes Meeting

2014

Cold Spring Harbor Labs, New York

PacBio Long-Read-Length Sequencing for Structural Variation Analysis of the Human Genome

Talk

Personal Genomes Meeting

2013

Cold Spring Harbor Labs, New York

The Molecular Basis of Phenotypic Variation in Smith-Magenis and Potocki-Lupski Syndromes

Talk

Parents Researchers Int. Smith-Magenis Syndrome (PRISMS) Research Symposium

2012

Denver, Colorado

LINE-1 variation in human genomes.

Talk

American Society of Human Genetics

2009

Honolulu, Hawaii.