A Complex 6p25 Rearrangement in a Child With Multiple Epiphyseal Dysplasia

Por Bedoyan, Jirair K., Lesperance, Marci M., Ackley, Todd, Iyer, Ramaswamy K., Innis, Jeffrey W., Misra, Vinod K.
Publicado no Am J Med Genet A (2010)

A Novel Method for Creating Artificial Mutant Samples for Performance Evaluation and Quality Control in Clinical Molecular Genetics

Por Jarvis, Michael, Iyer, Ramaswamy K., Williams, Laurina O., Noll, Walter W., Thomas, Kirk, Telatar, Milhan, Grody, Wayne W.
Publicado em 2005

Duplication 16p11.2 in a Child with Infantile Seizure Disorder

Por Bedoyan, Jirair K., Kumar, Ravinesh A., Sudi, Jyotsna, Silverstein, Faye, Ackley, Todd, Iyer, Ramaswamy K., Christian, Susan L., Martin, Donna M.
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

Mouse Model for Human Arginase Deficiency

Por Iyer, Ramaswamy K., Yoo, Paul K., Kern, Rita M., Rozengurt, Nora, Tsoa, Rosemarie, O'Brien, William E., Yu, Hong, Grody, Wayne W., Cederbaum, Stephen D.
Publicado em 2002

Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trio

Por Bodian, Dale L, Solomon, Benjamin D, Khromykh, Alina, Thach, Dzung C, Iyer, Ramaswamy K, Link, Kathleen, Baker, Robin L, Baveja, Rajiv, Vockley, Joseph G, Niederhuber, John E
Publicado no Mol Genet Genomic Med (2014)

Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care

Por Khromykh, Alina, Solomon, Benjamin D., Bodian, Dale L., Leon, Eyby L., Iyer, Ramaswamy K., Baker, Robin L., Ascher, David P., Baveja, Rajiv, Vockley, Joseph G., Niederhuber, John E.
Publicado no Mol Syndromol (2015)

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)

Development of a Genomic DNA Reference Material Panel for Rett Syndrome (MECP2-Related Disorders) Genetic Testing

Por Kalman, Lisa V., Tarleton, Jack C., Percy, Alan K., Aradhya, Swaroop, Bale, Sherri, Barker, Shannon D., Bayrak-Toydemir, Pinar, Bridges, Christina, Buller-Burckle, Arlene M., Das, Soma, Iyer, Ramaswamy K., Vo, Timothy D., Zvereff, Val V., Toji, Lorraine H.
Publicado em 2014

Mutations in NOTCH1 Cause Adams-Oliver Syndrome

Por Stittrich, Anna-Barbara, Lehman, Anna, Bodian, Dale L., Ashworth, Justin, Zong, Zheyuan, Li, Hong, Lam, Patricia, Khromykh, Alina, Iyer, Ramaswamy K., Vockley, Joseph G., Baveja, Rajiv, Silva, Ermelinda Santos, Dixon, Joanne, Leon, Eyby L., Solomon, Benjamin D., Glusman, Gustavo, Niederhuber, John E., Roach, Jared C., Patel, Millan S.
Publicado em 2014

An evidence-based approach to establish the functional and clinical significance of CNVs in intellectual and developmental disabilities

Por Kaminsky, Erin B., Kaul, Vineith, Paschall, Justin, Church, Deanna M., Bunke, Brian, Kunig, Dawn, Moreno-De-Luca, Daniel, Moreno-De-Luca, Andres, Mulle, Jennifer G., Warren, Stephen T., Richard, Gabriele, Compton, John G., Fuller, Amy E., Gliem, Troy J., Huang, Shuwen, Collinson, Morag N., Beal, Sarah J., Ackley, Todd, Pickering, Diane L., Golden, Denae M., Aston, Emily, Whitby, Heidi, Shetty, Shashirekha, Rossi, Michael R., Rudd, M. Katharine, South, Sarah T., Brothman, Arthur R., Sanger, Warren G., Iyer, Ramaswamy K., Crolla, John A., Thorland, Erik C., Aradhya, Swaroop, Ledbetter, David H., Martin, Christa L.
Publicado em 2011