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Somatic mosaicism: implications for disease and transmission genetics
Campbell, Ian M., Shaw, Chad A., Stankiewicz, Pawel, Lupski, James R.
Published in Trends in genetics (01.07.2015)
Published in Trends in genetics (01.07.2015)
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Journal Article
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
Published in Science (American Association for the Advancement of Science) (14.08.2015)
Published in Science (American Association for the Advancement of Science) (14.08.2015)
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Journal Article
Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics
Campbell, Ian M., Stewart, Jonathan R., James, Regis A., Lupski, James R., Stankiewicz, Paweł, Olofsson, Peter, Shaw, Chad A.
Published in American journal of human genetics (02.10.2014)
Published in American journal of human genetics (02.10.2014)
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Journal Article
Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders
Campbell, Ian M., Yuan, Bo, Robberecht, Caroline, Pfundt, Rolph, Szafranski, Przemyslaw, McEntagart, Meriel E., Nagamani, Sandesh C.S., Erez, Ayelet, Bartnik, Magdalena, Wiśniowiecka-Kowalnik, Barbara, Plunkett, Katie S., Pursley, Amber N., Kang, Sung-Hae L., Bi, Weimin, Lalani, Seema R., Bacino, Carlos A., Vast, Mala, Marks, Karen, Patton, Michael, Olofsson, Peter, Patel, Ankita, Veltman, Joris A., Cheung, Sau Wai, Shaw, Chad A., Vissers, Lisenka E.L.M., Vermeesch, Joris R., Lupski, James R., Stankiewicz, Paweł
Published in American journal of human genetics (07.08.2014)
Published in American journal of human genetics (07.08.2014)
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Journal Article
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, Paweł, Cheung, Sau Wai, Bi, Weimin, Lupski, James R.
Published in Human molecular genetics (15.07.2015)
Published in Human molecular genetics (15.07.2015)
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Journal Article
Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders
Chen, Fangyi, Ahimaz, Priyanka, Nguyen, Quan M., Lewis, Rachel, Chung, Wendy K., Ta, Casey N., Szigety, Katherine M., Sheppard, Sarah E., Campbell, Ian M., Wang, Kai, Weng, Chunhua, Liu, Cong
Published in NPJ digital medicine (21.11.2024)
Published in NPJ digital medicine (21.11.2024)
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Journal Article
Provider Perspectives on the Impact of the COVID-19 Pandemic on Newborn Screening
Gold, Jessica I., Campbell, Ian M., Ficicioglu, Can
Published in International journal of neonatal screening (07.07.2021)
Published in International journal of neonatal screening (07.07.2021)
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Journal Article
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.
Published in PLoS genetics (01.12.2015)
Published in PLoS genetics (01.12.2015)
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Journal Article
Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature
Priestley, Jessica R.C., Pace, Lisa M., Sen, Kuntal, Aggarwal, Anjali, Alves, Cesar Augusto P.F., Campbell, Ian M., Cuddapah, Sanmati R., Engelhardt, Nicole M., Eskandar, Marina, Jolín García, Paloma C., Gropman, Andrea, Helbig, Ingo, Hong, Xinying, Gowda, Vykuntaraju K., Lusk, Laina, Trapane, Pamela, Srinivasan, Varunvenkat M., Suwannarat, Pim, Ganetzky, Rebecca D.
Published in Molecular genetics and metabolism reports (01.12.2022)
Published in Molecular genetics and metabolism reports (01.12.2022)
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Journal Article
Secondary findings and carrier test frequencies in a large multiethnic sample
Gambin, Tomasz, Jhangiani, Shalini N., Below, Jennifer E., Campbell, Ian M., Wiszniewski, Wojciech, Muzny, Donna M., Staples, Jeffrey, Morrison, Alanna C., Bainbridge, Matthew N., Penney, Samantha, McGuire, Amy L., Gibbs, Richard A., Lupski, James R., Boerwinkle, Eric
Published in Genome medicine (13.06.2015)
Published in Genome medicine (13.06.2015)
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Journal Article
A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics
James, Regis A., Campbell, Ian M., Chen, Edward S., Boone, Philip M., Rao, Mitchell A., Bainbridge, Matthew N., Lupski, James R., Yang, Yaping, Eng, Christine M., Posey, Jennifer E., Shaw, Chad A.
Published in Genome medicine (02.02.2016)
Published in Genome medicine (02.02.2016)
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Journal Article
Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy
Campbell, Ian M., Rao, Mitchell, Arredondo, Sean D., Lalani, Seema R., Xia, Zhilian, Kang, Sung-Hae L., Bi, Weimin, Breman, Amy M., Smith, Janice L., Bacino, Carlos A., Beaudet, Arthur L., Patel, Ankita, Cheung, Sau Wai, Lupski, James R., Stankiewicz, Paweł, Ramocki, Melissa B., Shaw, Chad A.
Published in PLoS genetics (01.09.2013)
Published in PLoS genetics (01.09.2013)
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Journal Article
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH
Scott, Tiana M, Campbell, Ian M, Hernandez-Garcia, Andres, Lalani, Seema R, Liu, Pengfei, Shaw, Chad A, Rosenfeld, Jill A, Scott, Daryl A
Published in Journal of medical genetics (01.03.2022)
Published in Journal of medical genetics (01.03.2022)
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Journal Article
In Vitro Comparative Kinetic Analysis of the Chloroplast Toc GTPases
Reddick, L. Evan, Vaughn, Michael D., Wright, Sarah J., Campbell, Ian M., Bruce, Barry D.
Published in The Journal of biological chemistry (13.04.2007)
Published in The Journal of biological chemistry (13.04.2007)
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Journal Article
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.
Published in Genome research (01.08.2018)
Published in Genome research (01.08.2018)
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Journal Article
Distinct immune trajectories in patients with chromosome 22q11.2 deletion syndrome and immune-mediated diseases
Crowley, T. Blaine, Campbell, Ian M., Liebling, Emily J., Lambert, Michele P., Levitt Katz, Lorraine E., Heimall, Jennifer, Bailey, Alice, McGinn, Daniel E., McDonald McGinn, Donna M., Sullivan, Kathleen E.
Published in Journal of allergy and clinical immunology (01.01.2022)
Published in Journal of allergy and clinical immunology (01.01.2022)
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Journal Article
Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function
Karaca, Ender, Weitzer, Stefan, Pehlivan, Davut, Shiraishi, Hiroshi, Gogakos, Tasos, Hanada, Toshikatsu, Jhangiani, Shalini N., Wiszniewski, Wojciech, Withers, Marjorie, Campbell, Ian M., Erdin, Serkan, Isikay, Sedat, Franco, Luis M., Gonzaga-Jauregui, Claudia, Gambin, Tomasz, Gelowani, Violet, Hunter, Jill V., Yesil, Gozde, Koparir, Erkan, Yilmaz, Sarenur, Brown, Miguel, Briskin, Daniel, Hafner, Markus, Morozov, Pavel, Farazi, Thalia A., Bernreuther, Christian, Glatzel, Markus, Trattnig, Siegfried, Friske, Joachim, Kronnerwetter, Claudia, Bainbridge, Matthew N., Gezdirici, Alper, Seven, Mehmet, Muzny, Donna M., Boerwinkle, Eric, Ozen, Mustafa, Clausen, Tim, Tuschl, Thomas, Yuksel, Adnan, Hess, Andreas, Gibbs, Richard A., Martinez, Javier, Penninger, Josef M., Lupski, James R.
Published in Cell (24.04.2014)
Published in Cell (24.04.2014)
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Journal Article