Allele Frequency Matching Between SNPs Reveals an Excess of Linkage Disequilibrium in Genic Regions of the Human Genome

por Eberle, Michael A, Rieder, Mark J, Kruglyak, Leonid, Nickerson, Deborah A
Publicado 2006

Targeted interrogation of copy number variation using SCIMMkit

por Zerr, Troy, Cooper, Gregory M., Eichler, Evan E., Nickerson, Deborah A.
Publicado 2010

Calling Star Alleles With Stargazer in 28 Pharmacogenes With Whole Genome Sequences

por Lee, Seung‐been, Wheeler, Marsha M., Thummel, Kenneth E., Nickerson, Deborah A.
Publicado 2019

Variation in the TLR10/TLR1/TLR6 Locus is the Major Genetic Determinant of Inter-Individual Difference in TLR1/2-Mediated Responses

por Mikacenic, Carmen, Reiner, Alexander P., Holden, Tarah D., Nickerson, Deborah A., Wurfel, Mark M.
Publicado 2012

Population History and Natural Selection Shape Patterns of Genetic Variation in 132 Genes

por Akey, Joshua M, Eberle, Michael A, Rieder, Mark J, Carlson, Christopher S, Shriver, Mark D, Nickerson, Deborah A, Kruglyak, Leonid
Publicado 2004

A Multivariate Genome-Wide Association Analysis of 10 LDL Subfractions, and Their Response to Statin Treatment, in 1868 Caucasians

por Shim, Heejung, Chasman, Daniel I., Smith, Joshua D., Mora, Samia, Ridker, Paul M., Nickerson, Deborah A., Krauss, Ronald M., Stephens, Matthew
Publicado 2015

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment

por Schrauwen, Isabelle, Chakchouk, Imen, Acharya, Anushree, Liaqat, Khurram, Irfanullah, Nickerson, Deborah A., Bamshad, Michael J., Shah, Khadim, Ahmad, Wasim, Leal, Suzanne M.
Publicado 2018

Allelic spectrum of the natural variation in CRP

por Crawford, Dana C., Yi, Qian, Smith, Joshua D., Shephard, Cynthia, Wong, Michelle, Witrak, Laura, Livingston, Robert J., Rieder, Mark J., Nickerson, Deborah A.
Publicado 2006

Variation in LPA Is Associated with Lp(a) Levels in Three Populations from the Third National Health and Nutrition Examination Survey

por Dumitrescu, Logan, Glenn, Kimberly, Brown-Gentry, Kristin, Shephard, Cynthia, Wong, Michelle, Rieder, Mark J., Smith, Joshua D., Nickerson, Deborah A., Crawford, Dana C.
Publicado 2011

Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome

por Duran, Ivan, Taylor, S. Paige, Zhang, Wenjuan, Martin, Jorge, Forlenza, Kimberly N., Spiro, Rhonda P., Nickerson, Deborah A., Bamshad, Michael, Cohn, Daniel H., Krakow, Deborah
Publicado 2016

Stargazer: a software tool for calling star alleles from next-generation sequencing data using CYP2D6 as a model

por Lee, Seung-been, Wheeler, Marsha M., Patterson, Karynne, McGee, Sean, Dalton, Rachel, Woodahl, Erica L., Gaedigk, Andrea, Thummel, Kenneth E., Nickerson, Deborah A.
Publicado 2018

Copy number variation detection and genotyping from exome sequence data

por Krumm, Niklas, Sudmant, Peter H., Ko, Arthur, O'Roak, Brian J., Malig, Maika, Coe, Bradley P., Quinlan, Aaron R., Nickerson, Deborah A., Eichler, Evan E.
Publicado 2012

Monoallelic and Biallelic CREB3L1 Variant Causes Mild and Severe Osteogenesis Imperfecta, Respectively

por Keller, Rachel B, Tran, Thao T, Pyott, Shawna M, Pepin, Melanie G, Savarirayan, Ravi, McGillivray, George, Nickerson, Deborah A, Bamshad, Michael J, Byers, Peter H
Publicado 2017

Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares

por Chau, Alice S., Cole, Bonnie L., Debley, Jason S., Nanda, Kabita, Rosen, Aaron B. I., Bamshad, Michael J., Nickerson, Deborah A., Torgerson, Troy R., Allenspach, Eric J.
Publicado 2020

Correction to: Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares

por Chau, Alice S., Cole, Bonnie L., Debley, Jason S., Nanda, Kabita, Rosen, Aaron B. I., Bamshad, Michael J., Nickerson, Deborah A., Torgerson, Troy R., Allenspach, Eric J.
Publicado 2022

Linkage Disequilibrium in Wild Mice

por Laurie, Cathy C, Nickerson, Deborah A, Anderson, Amy D, Weir, Bruce S, Livingston, Robert J, Dean, Matthew D, Smith, Kimberly L, Schadt, Eric E, Nachman, Michael W
Publicado 2007

Tracing Sub-Structure in the European American Population with PCA-Informative Markers

por Paschou, Peristera, Drineas, Petros, Lewis, Jamey, Nievergelt, Caroline M., Nickerson, Deborah A., Smith, Joshua D., Ridker, Paul M., Chasman, Daniel I., Krauss, Ronald M., Ziv, Elad
Publicado 2008

Novel Rare Variants in Congenital Cardiac Arrhythmia Genes are Frequent in Drug-induced Torsades de Pointes

por Ramirez, Andrea H., Shaffer, Christian M., Delaney, Jessica T., Sexton, David P., Levy, Shawn E., Rieder, Mark J., Nickerson, Deborah A., George, Alfred L., Roden, Dan M.
Publicado 2012

Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease

por Musfee, Fadi I., Guo, Dongchuan, Pinard, Amélie C., Hostetler, Ellen M., Blue, Elizabeth E., Nickerson, Deborah A., Bamshad, Michael J., Milewicz, Dianna M., Prakash, Siddharth K.
Publicado 2020

denovo-db: a compendium of human de novo variants

por Turner, Tychele N., Yi, Qian, Krumm, Niklas, Huddleston, John, Hoekzema, Kendra, F. Stessman, Holly A., Doebley, Anna-Lisa, Bernier, Raphael A., Nickerson, Deborah A., Eichler, Evan E.
Publicado 2017