Variant interpretation through Bayesian fusion of frequency and genomic knowledge

por Shaw, Chad A, Campbell, Ian M
Publicado 2015

Provider Perspectives on the Impact of the COVID-19 Pandemic on Newborn Screening

por Gold, Jessica I., Campbell, Ian M., Ficicioglu, Can
Publicado 2021

Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization

por Gold, Nina B., Campbell, Ian M., Sheppard, Sarah E., Tan, Wen-Hann
Publicado 2021

Isolation of Aggressive Behavior Mutants in Drosophila Using a Screen for Wing Damage

por Davis, Shaun M., Thomas, Amanda L., Liu, Lingzhi, Campbell, Ian M., Dierick, Herman A.
Publicado 2018

Genome-wide analyses of LINE–LINE-mediated nonallelic homologous recombination

por Startek, Michał, Szafranski, Przemyslaw, Gambin, Tomasz, Campbell, Ian M., Hixson, Patricia, Shaw, Chad A., Stankiewicz, Paweł, Gambin, Anna
Publicado 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 2014

Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements

por 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.
Publicado 2018

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics

por 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.
Publicado 2016

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 2015

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

por Boone, Philip M., Campbell, Ian M., Baggett, Brett C., Soens, Zachry T., Rao, Mitchell M., Hixson, Patricia M., Patel, Ankita, Bi, Weimin, Cheung, Sau Wai, Lalani, Seema R., Beaudet, Arthur L., Stankiewicz, Pawel, Shaw, Chad A., Lupski, James R.
Publicado 2013

Secondary findings and carrier test frequencies in a large multiethnic sample

por 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
Publicado 2015

Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy

por 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.
Publicado 2013

Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

por 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.
Publicado 2022