Mendelian Inconsistent Signatures from 1314 Ancestrally Diverse Family Trios Distinguish Biological Variation from Sequencing Error

Por Kothiyal, Prachi, Wong, Wendy S.W., Bodian, Dale L., Niederhuber, John E.
Publicado no J Comput Biol (2019)

An Overview of Custom Array Sequencing

Por Kothiyal, Prachi, Cox, Stephanie, Ebert, Jonathan, Aronow, Bruce J., Greinwald, John H., Rehm, Heidi L.
Publicado no Curr Protoc Hum Genet (2009)

3397 Genetic variants in gestational diabetes mellitus

Por Kothiyal, Prachi, Lawrence, Grace, Godinez, Irma, Huddleston, Kathi Chesnutt, Fuller, Alma, Hazrati, Sahel, Wong, Wendy, Deeken, John, Niederhuber, John
Publicado no J Clin Transl Sci (2019)

High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays

Por Kothiyal, Prachi, Cox, Stephanie, Ebert, Jonathan, Husami, Ammar, Kenna, Margaret A, Greinwald, John H, Aronow, Bruce J, Rehm, Heidi L
Publicado em 2010

Germline Variation in Cancer-Susceptibility Genes in a Healthy, Ancestrally Diverse Cohort: Implications for Individual Genome Sequencing

Por Bodian, Dale L., McCutcheon, Justine N., Kothiyal, Prachi, Huddleston, Kathi C., Iyer, Ramaswamy K., Vockley, Joseph G., Niederhuber, John E.
Publicado em 2014

New observations on maternal age effect on germline de novo mutations

Por Wong, Wendy S. W., Solomon, Benjamin D., Bodian, Dale L., Kothiyal, Prachi, Eley, Greg, Huddleston, Kathi C., Baker, Robin, Thach, Dzung C., Iyer, Ramaswamy K., Vockley, Joseph G., Niederhuber, John E.
Publicado no Nat Commun (2016)

Differences in maternal gene expression in Cesarean section delivery compared with vaginal delivery

Por Kothiyal, Prachi, Schulkers, Keriann, Liu, Xinyue, Hazrati, Sahel, Vilboux, Thierry, Gomez, Luis M., Huddleston, Kathi, Wong, Wendy S. W., Niederhuber, John E., Conrads, Thomas P., Maxwell, G. Larry, Hourigan, Suchitra K.
Publicado no Sci Rep (2020)

Genomic and molecular characterization of preterm birth

Por Knijnenburg, Theo A., Vockley, Joseph G., Chambwe, Nyasha, Gibbs, David L., Humphries, Crystal, Huddleston, Kathi C., Klein, Elisabeth, Kothiyal, Prachi, Tasseff, Ryan, Dhankani, Varsha, Bodian, Dale L., Wong, Wendy S. W., Glusman, Gustavo, Mauldin, Denise E., Miller, Michael, Slagel, Joseph, Elasady, Summer, Roach, Jared C., Kramer, Roger, Leinonen, Kalle, Linthorst, Jasper, Baveja, Rajiv, Baker, Robin, Solomon, Benjamin D., Eley, Greg, Iyer, Ramaswamy K., Maxwell, George L., Bernard, Brady, Shmulevich, Ilya, Hood, Leroy, Niederhuber, John E.
Publicado no Proc Natl Acad Sci U S A (2019)