Utilizing Graph Theory to Select the Largest Set of Unrelated Individuals for Genetic Analysis

بواسطة Staples, Jeffrey, Nickerson, Deborah A., Below, Jennifer E.
منشور في 2012

Phylogenetics Applied to Genotype/Phenotype Association and Selection Analyses with Sequence Data from Angptl4 in Humans

بواسطة Maxwell, Taylor J., Bendall, Matthew L., Staples, Jeffrey, Jarvis, Todd, Crandall, Keith A.
منشور في 2010

PRIMUS: improving pedigree reconstruction using mitochondrial and Y haplotypes

بواسطة Staples, Jeffrey, Ekunwe, Lynette, Lange, Ethan, Wilson, James G., Nickerson, Deborah A., Below, Jennifer E.
الحاوية / القاعدة Bioinformatics (2016)

PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent

بواسطة Staples, Jeffrey, Qiao, Dandi, Cho, Michael H., Silverman, Edwin K., Nickerson, Deborah A., Below, Jennifer E.
الحاوية / القاعدة Am J Hum Genet (2014)

PADRE: Pedigree-Aware Distant-Relationship Estimation

بواسطة Staples, Jeffrey, Witherspoon, David J., Jorde, Lynn B., Nickerson, Deborah A., Below, Jennifer E., Huff, Chad D.
الحاوية / القاعدة Am J Hum Genet (2016)

A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

بواسطة Hershkovitz, Tova, Kurolap, Alina, Tal, Galit, Paperna, Tamar, Mory, Adi, Staples, Jeffrey, Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Dumin, Elena, Saada, Ann, Mandel, Hanna, Baris Feldman, Hagit
الحاوية / القاعدة Mol Genet Metab Rep (2020)

Secondary findings and carrier test frequencies in a large multiethnic sample

بواسطة 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
الحاوية / القاعدة Genome Med (2015)

Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn’s Disease

بواسطة Horowitz, Julie E., Warner, Neil, Staples, Jeffrey, Crowley, Eileen, Gosalia, Nehal, Murchie, Ryan, Van Hout, Cristopher, Fiedler, Karoline, Welch, Gabriel, King, Alejandra Klauer, Reid, Jeffrey G., Overton, John D., Baras, Aris, Shuldiner, Alan R., Griffiths, Anne, Gottesman, Omri, Muise, Aleixo M., Gonzaga-Jauregui, Claudia
الحاوية / القاعدة Sci Rep (2021)

Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes

بواسطة Staples, Jeffrey, Maxwell, Evan K., Gosalia, Nehal, Gonzaga-Jauregui, Claudia, Snyder, Christopher, Hawes, Alicia, Penn, John, Ulloa, Ricardo, Bai, Xiaodong, Lopez, Alexander E., Van Hout, Cristopher V., O’Dushlaine, Colm, Teslovich, Tanya M., McCarthy, Shane E., Balasubramanian, Suganthi, Kirchner, H. Lester, Leader, Joseph B., Murray, Michael F., Ledbetter, David H., Shuldiner, Alan R., Yancoupolos, George D., Dewey, Frederick E., Carey, David J., Overton, John D., Baras, Aris, Habegger, Lukas, Reid, Jeffrey G.
الحاوية / القاعدة Am J Hum Genet (2018)

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

بواسطة Gonzaga-Jauregui, Claudia, Yesil, Gozde, Nistala, Harikiran, Gezdirici, Alper, Bayram, Yavuz, Nannuru, Kalyan C., Pehlivan, Davut, Yuan, Bo, Jimenez, Johanna, Sahin, Yavuz, Paine, Ingrid S., Akdemir, Zeynep Coban, Rajamani, Saathyaki, Staples, Jeffrey, Dronzek, John, Howell, Kristen, Fatih, Jawid M., Smaldone, Silvia, Schlesinger, Alan E., Ramírez, Norman, Cornier, Alberto S., Kelly, Melissa A., Haber, Robert, Chim, Shek Man, Nieman, Kristy, Wu, Nan, Walls, Johnathon, Poueymirou, William, Siao, Chia-Jen, Sutton, V. Reid, Williams, Marc S., Posey, Jennifer E., Gibbs, Richard A., Carlo, Simon, Tegay, David H., Economides, Aris N., Lupski, James R.
الحاوية / القاعدة Eur J Hum Genet (2020)

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

بواسطة Van Hout, Cristopher V., Tachmazidou, Ioanna, Backman, Joshua D., Hoffman, Joshua D., Liu, Daren, Pandey, Ashutosh K., Gonzaga-Jauregui, Claudia, Khalid, Shareef, Ye, Bin, Banerjee, Nilanjana, Li, Alexander H., O’Dushlaine, Colm, Marcketta, Anthony, Staples, Jeffrey, Schurmann, Claudia, Hawes, Alicia, Maxwell, Evan, Barnard, Leland, Lopez, Alexander, Penn, John, Habegger, Lukas, Blumenfeld, Andrew L., Bai, Xiaodong, O’Keeffe, Sean, Yadav, Ashish, Praveen, Kavita, Jones, Marcus, Salerno, William J., Chung, Wendy K., Surakka, Ida, Willer, Cristen J., Hveem, Kristian, Leader, Joseph B., Carey, David J., Ledbetter, David H., Cardon, Lon, Yancopoulos, George D., Economides, Aris, Coppola, Giovanni, Shuldiner, Alan R., Balasubramanian, Suganthi, Cantor, Michael, Nelson, Matthew R., Whittaker, John, Reid, Jeffrey G., Marchini, Jonathan, Overton, John D., Scott, Robert A., Abecasis, Gonçalo R., Yerges-Armstrong, Laura, Baras, Aris
الحاوية / القاعدة Nature (2020)