Technological considerations for genome-guided diagnosis and management of cancer

le Lennon, Niall J., Adalsteinsson, Viktor A., Gabriel, Stacey B.
Foilsithe in Genome Med (2016)

Gene- and tissue-level interactions in normal gastrointestinal development and Hirschsprung disease

le Chatterjee, Sumantra, Nandakumar, Priyanka, Auer, Dallas R., Gabriel, Stacey B., Chakravarti, Aravinda
Foilsithe in Proc Natl Acad Sci U S A (2019)

Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance

le Friedman, Jennifer, Olvera, Jesus, Silhavy, Jennifer L., Gabriel, Stacey B., Gleeson, Joseph G.
Foilsithe 2012

Pacific biosciences sequencing technology for genotyping and variation discovery in human data

le Carneiro, Mauricio O, Russ, Carsten, Ross, Michael G, Gabriel, Stacey B, Nusbaum, Chad, DePristo, Mark A
Foilsithe 2012

Estimating epidemiologic dynamics from cross-sectional viral load distributions

le Hay, James A., Kennedy-Shaffer, Lee, Kanjilal, Sanjat, Lennon, Niall J., Gabriel, Stacey B., Lipsitch, Marc, Mina, Michael J.
Foilsithe in medRxiv (2021)

Somatic rearrangements across cancer reveal classes of samples with distinct patterns of DNA breakage and rearrangement-induced hypermutability

le Drier, Yotam, Lawrence, Michael S., Carter, Scott L., Stewart, Chip, Gabriel, Stacey B., Lander, Eric S., Meyerson, Matthew, Beroukhim, Rameen, Getz, Gad
Foilsithe 2013

Discovery and saturation analysis of cancer genes across 21 tumor types

le Lawrence, Michael S., Stojanov, Petar, Mermel, Craig H., Garraway, Levi A., Golub, Todd R., Meyerson, Matthew, Gabriel, Stacey B., Lander, Eric S., Getz, Gad
Foilsithe 2014

Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes

le Majithia, Amit R., Flannick, Jason, Shahinian, Peter, Guo, Michael, Bray, Mark-Anthony, Fontanillas, Pierre, Gabriel, Stacey B., Rosen, Evan D., Altshuler, David
Foilsithe in Proc Natl Acad Sci U S A (2014)

Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease

le Peloso, Gina M., Demissie, Serkalem, Collins, Dorothea, Mirel, Daniel B., Gabriel, Stacey B., Cupples, L. Adrienne, Robins, Sander J., Schaefer, Ernst J., Brousseau, Margaret E.
Foilsithe 2010

Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel

le Mitt, Mario, Kals, Mart, Pärn, Kalle, Gabriel, Stacey B, Lander, Eric S, Palotie, Aarno, Ripatti, Samuli, Morris, Andrew P, Metspalu, Andres, Esko, Tõnu, Mägi, Reedik, Palta, Priit
Foilsithe in Eur J Hum Genet (2017)

Spectrum of somatic mitochondrial mutations in five cancers

le Larman, Tatianna C., DePalma, Steven R., Hadjipanayis, Angela G., Protopopov, Alexei, Zhang, Jianhua, Gabriel, Stacey B., Chin, Lynda, Seidman, Christine E., Kucherlapati, Raju, Seidman, J. G.
Foilsithe 2012

Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism

le Chahrour, Maria H., Yu, Timothy W., Lim, Elaine T., Ataman, Bulent, Coulter, Michael E., Hill, R. Sean, Stevens, Christine R., Schubert, Christian R., Greenberg, Michael E., Gabriel, Stacey B., Walsh, Christopher A.
Foilsithe 2012

Deficiency of UBE2T, the E2 ubiquitin ligase necessary for FANCD2 and FANCI ubiquitination, causes FA-T subtype of Fanconi anemia

le Rickman, Kimberly A., Lach, Francis P., Abhyankar, Avinash, Donovan, Frank X., Sanborn, Erica M., Kennedy, Jennifer A., Sougnez, Carrie, Gabriel, Stacey B., Elemento, Olivier, Chandrasekharappa, Settara C., Schindler, Detlev, Auerbach, Arleen D., Smogorzewska, Agata
Foilsithe in Cell Rep (2015)

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

le Çalışkan, Minal, Chong, Jessica X., Uricchio, Lawrence, Anderson, Rebecca, Chen, Peixian, Sougnez, Carrie, Garimella, Kiran, Gabriel, Stacey B., DePristo, Mark A., Shakir, Khalid, Matern, Dietrich, Das, Soma, Waggoner, Darrel, Nicolae, Dan L., Ober, Carole
Foilsithe 2011

High-Throughput Detection of Actionable Genomic Alterations in Clinical Tumor Samples by Targeted, Massively Parallel Sequencing

le Wagle, Nikhil, Berger, Michael F., Davis, Matthew J., Blumenstiel, Brendan, DeFelice, Matthew, Pochanard, Panisa, Ducar, Matthew, Van Hummelen, Paul, MacConaill, Laura E., Hahn, William C., Meyerson, Matthew, Gabriel, Stacey B., Garraway, Levi A.
Foilsithe 2011

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

le Scott, Eric M., Halees, Anason, Itan, Yuval, Spencer, Emily G., He, Yupeng, Azab, Mostafa Abdellateef, Gabriel, Stacey B., Belkadi, Aziz, Boisson, Bertrand, Abel, Laurent, Clark, Andrew G., Alkuraya, Fowzan S., Casanova, Jean-Laurent, Gleeson, Joseph G.
Foilsithe in Nat Genet (2016)

Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation

le Costello, Maura, Pugh, Trevor J., Fennell, Timothy J., Stewart, Chip, Lichtenstein, Lee, Meldrim, James C., Fostel, Jennifer L., Friedrich, Dennis C., Perrin, Danielle, Dionne, Danielle, Kim, Sharon, Gabriel, Stacey B., Lander, Eric S., Fisher, Sheila, Getz, Gad
Foilsithe 2013

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

le Lee, Jeong Ho, Huynh, My, Silhavy, Jennifer L, Kim, Sangwoo, Dixon-Salazar, Tracy, Heiberg, Andrew, Scott, Eric, Bafna, Vineet, Hill, Kiley J, Collazo, Adrienne, Funari, Vincent, Russ, Carsten, Gabriel, Stacey B, Mathern, Gary W, Gleeson, Joseph G
Foilsithe in Nat Genet (2012)

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

le Korn, Joshua M, Kuruvilla, Finny G, McCarroll, Steven A, Wysoker, Alec, Nemesh, James, Cawley, Simon, Hubbell, Earl, Veitch, Jim, Collins, Patrick J, Darvishi, Katayoon, Lee, Charles, Nizzari, Marcia M, Gabriel, Stacey B, Purcell, Shaun, Daly, Mark J, Altshuler, David
Foilsithe 2008

A dominant mutation in human RAD51 reveals its function in DNA interstrand crosslink repair independent of homologous recombination

le Wang, Anderson T., Kim, Taeho, Wagner, John E., Conti, Brooke A., Lach, Francis P., Huang, Athena L., Molina, Henrik, Sanborn, Erica M., Zierhut, Heather, Cornes, Belinda K., Abhyankar, Avinash, Sougnez, Carrie, Gabriel, Stacey B., Auerbach, Arleen D., Kowalczykowski, Stephen C., Smogorzewska, Agata
Foilsithe in Mol Cell (2015)