LINE-1 Elements in Structural Variation and Disease

Por Beck, Christine R., Garcia-Perez, José Luis, Badge, Richard M., Moran, John V.
Publicado em 2011

Curcumin facilitates a transitory cellular stress response in Trembler-J mice

Por Okamoto, Yuji, Pehlivan, Davut, Wiszniewski, Wojciech, Beck, Christine R., Snipes, G. Jackson, Lupski, James R., Khajavi, Mehrdad
Publicado em 2013

Optimization of Feline Immunodeficiency Virus Vectors for RNA Interference

Por Harper, Scott Q., Staber, Patrick D., Beck, Christine R., Fineberg, Sarah K., Stein, Colleen, Ochoa, Dalyz, Davidson, Beverly L.
Publicado em 2006

LINE-1 Retrotransposition Activity in Human Genomes

Por Beck, Christine R., Collier, Pamela, Macfarlane, Catriona, Malig, Maika, Kidd, Jeffrey M., Eichler, Evan E., Badge, Richard M., Moran, John V.
Publicado em 2010

Transduction-Specific ATLAS (TS-ATLAS) reveals a cohort of highly active L1 retrotransposons in human populations

Por Macfarlane, Catriona M., Collier, Pamela, Rahbari, Raheleh, Beck, Christine R., Wagstaff, John F., Igoe, Samantha, Moran, John V., Badge, Richard M.
Publicado em 2013

Mus81 and converging forks limit the mutagenicity of replication fork breakage

Por Mayle, Ryan, Campbell, Ian M., Beck, Christine R., Yu, Yang, Wilson, Marenda, Shaw, Chad A., Bjergbaek, Lotte, Lupski, James R., Ira, Grzegorz
Publicado no Science (2015)

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

Por 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, Paweł
Publicado em 2014

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

Por Pehlivan, Davut, Karaca, Ender, Aydin, Hatip, Beck, Christine R, Gambin, Tomasz, Muzny, Donna M, Bilge Geckinli, B, Karaman, Ali, Jhangiani, Shalini N, Gibbs, Richard A, Lupski, James R
Publicado em 2014

PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations

Por 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
Publicado no BMC Genomics (2015)

Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates

Por 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.
Publicado no PLoS Genet (2015)

Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

Por 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.
Publicado no PLoS Genet (2015)

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

Por 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, Paweł, Cheung, Sau Wai, Bi, Weimin, Lupski, James R.
Publicado no Hum Mol Genet (2015)

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

Por 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.
Publicado no Am J Hum Genet (2015)

Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

Por 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.
Publicado no Genet Med (2013)

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy

Por 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.
Publicado no Genet Med (2015)

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics

Por 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
Publicado no Genome Med (2016)

The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles

Por 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.
Publicado em 2014

Macrophage migration inhibitory factor acts as a neurotrophin in the developing inner ear

Por 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, Alicia E., Jewett, Ethan M., Germiller, John A., Barald, Kate F.
Publicado em 2012

Assessing structural variation in a personal genome—towards a human reference diploid genome

Por 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
Publicado no BMC Genomics (2015)

Macrophage migration inhibitory factor acts as a neurotrophin in the developing inner ear

Por 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., Jewett, Ethan M., Germiller, John A., Barald, Kate F.
Publicado no Development (2013)