Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine

Por Bean, Lora, Hegde, Madhuri R.
Publicado no Hum Mutat (2016)

Modern clinical molecular techniques

Por Hu, Peter, Hegde, Madhuri R., Lennon, Patrick Alan
Publicado em c201

Microarray-based mutation detection in the dystrophin gene

Por Hegde, Madhuri R., Chin, Ephrem L.H., Mulle, Jennifer G., Okou, David T., Warren, Stephen T., Zwick, Michael E.
Publicado em 2008

Empirical Evaluation of Oligonucleotide Probe Selection for DNA Microarrays

Por Mulle, Jennifer G., Patel, Viren C., Warren, Stephen T., Hegde, Madhuri R., Cutler, David J., Zwick, Michael E.
Publicado em 2010

A Simple Method to Confirm and Size Deletion, Duplication, and Insertion Mutations Detected by Sequence Analysis

Por Hjelm, Lawrence N., Chin, Ephrem L.H., Hegde, Madhuri R., Coffee, Bradford W., Bean, Lora J.H.
Publicado em 2010

Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene

Por Ankala, Arunkanth, Kohn, Jordan N., Hegde, Anisha, Meka, Arjun, Ephrem, Chin Lip Hon, Askree, Syed H., Bhide, Shruti, Hegde, Madhuri R.
Publicado em 2012

Targeted PCR-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation (CDG)

Por Jones, Melanie A., Bhide, Shruti, Chin, Ephrem, Ng, Bobby G., Rhodenizer, Devin, Zhang, Victor W., Sun, Jessica J., Tanner, Alice, Freeze, Hudson H., Hegde, Madhuri R.
Publicado em 2011

ACMG clinical laboratory standards for next-generation sequencing

Por Rehm, Heidi L., Bale, Sherri J, Bayrak-Toydemir, Pinar, Berg, Jonathan S, Brown, Kerry K, Deignan, Joshua L, Friez, Michael J, Funke, Birgit H, Hegde, Madhuri R, Lyon, Elaine
Publicado em 2013

DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation

Por Jones, Melanie A., Ng, Bobby G., Bhide, Shruti, Chin, Ephrem, Rhodenizer, Devin, He, Ping, Losfeld, Marie-Estelle, He, Miao, Raymond, Kimiyo, Berry, Gerard, Freeze, Hudson H., Hegde, Madhuri R.
Publicado em 2012

Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

Por Ng, Bobby G., Hackmann, Karl, Jones, Melanie A., Eroshkin, Alexey M., He, Ping, Wiliams, Roy, Bhide, Shruti, Cantagrel, Vincent, Gleeson, Joseph G., Paller, Amy S., Schnur, Rhonda E., Tinschert, Sigrid, Zunich, Janice, Hegde, Madhuri R., Freeze, Hudson H.
Publicado em 2012

Mouse model implicates GNB3 duplication in a childhood obesity syndrome

Por Goldlust, Ian S., Hermetz, Karen E., Catalano, Lisa M., Barfield, Richard T., Cozad, Rebecca, Wynn, Grace, Ozdemir, Alev Cagla, Conneely, Karen N., Mulle, Jennifer G., Dharamrup, Shikha, Hegde, Madhuri R., Kim, Katherine H., Angle, Brad, Colley, Alison, Webb, Amy E., Thorland, Erik C., Ellison, Jay W., Rosenfeld, Jill A., Ballif, Blake C., Shaffer, Lisa G., Demmer, Laurie A., Rudd, M. Katharine, Searle, Beverly A, Wynn, Sarah L.
Publicado em 2013

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

Por Schwarze, Ulrike, Cundy, Tim, Pyott, Shawna M., Christiansen, Helena E., Hegde, Madhuri R., Bank, Ruud A., Pals, Gerard, Ankala, Arunkanth, Conneely, Karen, Seaver, Laurie, Yandow, Suzanne M., Raney, Ellen, Babovic-Vuksanovic, Dusica, Stoler, Joan, Ben-Neriah, Ziva, Segel, Reeval, Lieberman, Sari, Siderius, Liesbeth, Al-Aqeel, Aida, Hannibal, Mark, Hudgins, Louanne, McPherson, Elizabeth, Clemens, Michele, Sussman, Michael D., Steiner, Robert D., Mahan, John, Smith, Rosemarie, Anyane-Yeboa, Kwame, Wynn, Julia, Chong, Karen, Uster, Tami, Aftimos, Salim, Sutton, V. Reid, Davis, Elaine C., Kim, Lammy S., Weis, Mary Ann, Eyre, David, Byers, Peter H.
Publicado em 2013

Assuring the quality of next-generation sequencing in clinical laboratory practice

Por Gargis, Amy S, Kalman, Lisa, Berry, Meredith W, Bick, David P, Dimmock, David P, Hambuch, Tina, Lu, Fei, Lyon, Elaine, Voelkerding, Karl V, Zehnbauer, Barbara A, Agarwala, Richa, Bennett, Sarah F, Chen, Bin, Chin, Ephrem L H, Compton, John G, Das, Soma, Farkas, Daniel H, Ferber, Matthew J, Funke, Birgit H, Furtado, Manohar R, Ganova-Raeva, Lilia M, Geigenmüller, Ute, Gunselman, Sandra J, Hegde, Madhuri R, Johnson, Philip L F, Kasarskis, Andrew, Kulkarni, Shashikant, Lenk, Thomas, Liu, C S Jonathan, Manion, Megan, Manolio, Teri A, Mardis, Elaine R, Merker, Jason D, Rajeevan, Mangalathu S, Reese, Martin G, Rehm, Heidi L, Simen, Birgitte B, Yeakley, Joanne M, Zook, Justin M, Lubin, Ira M
Publicado em 2012