Search Results - "Wilch, Ellen S"

Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders by Andersen, Rebecca E., Alkuraya, Ibrahim F., Ajeesh, Abna, Sakamoto, Tyler, Mena, Elijah L., Amr, Sami S., Romi, Hila, Kenna, Margaret A., Robson, Caroline D., Wilch, Ellen S., Nalbandian, Katarena, Piña-Aguilar, Raul, Walsh, Christopher A., Morton, Cynthia C.

“…In recent years, there has been increased focus on exploring the role the non-protein-coding genome plays in Mendelian disorders. One class of particular…”
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Challenges and solutions for gene identification in the presence of familial locus heterogeneity by Rehman, Atteeq U, Santos-Cortez, Regie Lyn P, Drummond, Meghan C, Shahzad, Mohsin, Lee, Kwanghyuk, Morell, Robert J, Ansar, Muhammad, Jan, Abid, Wang, Xin, Aziz, Abdul, Riazuddin, Saima, Smith, Joshua D, Wang, Gao T, Ahmed, Zubair M, Gul, Khitab, Shearer, A Eliot, Smith, Richard J H, Shendure, Jay, Bamshad, Michael J, Nickerson, Deborah A, Hinnant, John, Khan, Shaheen N, Fisher, Rachel A, Ahmad, Wasim, Friderici, Karen H, Riazuddin, Sheikh, Friedman, Thomas B, Wilch, Ellen S, Leal, Suzanne M

“…Next-generation sequencing (NGS) of exomes and genomes has accelerated the identification of genes involved in Mendelian phenotypes. However, many NGS studies…”
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