Interaction among Gsk-3, Gbp, Axin, and APC in Xenopus Axis Specification

بواسطة Farr, Gist H., Ferkey, Denise M., Yost, Cynthia, Pierce, Sarah B., Weaver, Carole, Kimelman, David
منشور في 2000

Drosophila Growth and Development in the Absence of dMyc and dMnt

بواسطة Pierce, Sarah B., Yost, Cynthia, Anderson, Sarah A. R., Flynn, Erin M., Delrow, Jeffrey, Eisenman, Robert N.
منشور في 2007

De novo mutation in RING1 with epigenetic effects on neurodevelopment

بواسطة Pierce, Sarah B., Stewart, Mikaela D., Gulsuner, Suleyman, Walsh, Tom, Dhall, Abhinav, McClellan, Jon M., Klevit, Rachel E., King, Mary-Claire
الحاوية / القاعدة Proc Natl Acad Sci U S A (2018)

Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome

بواسطة Pierce, Sarah B., Gersak, Ksenija, Michaelson-Cohen, Rachel, Walsh, Tom, Lee, Ming K., Malach, Daniel, Klevit, Rachel E., King, Mary-Claire, Levy-Lahad, Ephrat
منشور في 2013

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

بواسطة Pierce, Sarah B., Chisholm, Karen M., Lynch, Eric D., Lee, Ming K., Walsh, Tom, Opitz, John M., Li, Weiqing, Klevit, Rachel E., King, Mary-Claire
منشور في 2011

Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease

بواسطة Pierce, Sarah B., Gulsuner, Suleyman, Stapleton, Gail A., Walsh, Tom, Lee, Ming K., Mandell, Jessica B., Morales, Augusto, Klevit, Rachel E., King, Mary-Claire, Rogers, R. Curtis
الحاوية / القاعدة Cold Spring Harb Mol Case Stud (2016)

Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome

بواسطة Pierce, Sarah B., Walsh, Tom, Chisholm, Karen M., Lee, Ming K., Thornton, Anne M., Fiumara, Agata, Opitz, John M., Levy-Lahad, Ephrat, Klevit, Rachel E., King, Mary-Claire
منشور في 2010

Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities

بواسطة Kamal, Lara, Pierce, Sarah B., Canavati, Christina, Rayyan, Amal Abu, Jaraysa, Tamara, Lobel, Orit, Lolas, Suhair, Norquist, Barbara M., Rabie, Grace, Zahdeh, Fouad, Levy-Lahad, Ephrat, King, Mary-Claire, Kanaan, Moien N.
الحاوية / القاعدة Cold Spring Harb Mol Case Stud (2020)

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

بواسطة Morino, Hiroyuki, Pierce, Sarah B., Matsuda, Yukiko, Walsh, Tom, Ohsawa, Ryosuke, Newby, Marta, Hiraki-Kamon, Keiko, Kuramochi, Masahito, Lee, Ming K., Klevit, Rachel E., Martin, Alan, Maruyama, Hirofumi, King, Mary-Claire, Kawakami, Hideshi
الحاوية / القاعدة Neurology (2014)

Regulation of DAF-2 receptor signaling by human insulin and ins-1, a member of the unusually large and diverse C. elegans insulin gene family

بواسطة Pierce, Sarah B., Costa, Michael, Wisotzkey, Robert, Devadhar, Sharmila, Homburger, Sheila A., Buchman, Andrew R., Ferguson, Kimberly C., Heller, Jonathan, Platt, Darren M., Pasquinelli, Amy A., Liu, Leo X., Doberstein, Stephen K., Ruvkun, Gary
منشور في 2001

Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria

بواسطة Pierce, Sarah B., Spurrell, Cailyn H., Mandell, Jessica B., Lee, Ming K., Zeligson, Sharon, Bereman, Michael S., Stray, Sunday M., Fokstuen, Siv, MacCoss, Michael J., Levy-Lahad, Ephrat, King, Mary-Claire, Motulsky, Arno G.
منشور في 2011

Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes in Progressive Nonsyndromic Hearing Loss DFNA51

بواسطة Walsh, Tom, Pierce, Sarah B., Lenz, Danielle R., Brownstein, Zippora, Dagan-Rosenfeld, Orit, Shahin, Hashem, Roeb, Wendy, McCarthy, Shane, Nord, Alex S., Gordon, Carlos R., Ben-Neriah, Ziva, Sebat, Jonathan, Kanaan, Moien, Lee, Ming K., Frydman, Moshe, King, Mary-Claire, Avraham, Karen B.
منشور في 2010

Homozygous Loss-of-function Mutations in SOHLH1 in Patients With Nonsyndromic Hypergonadotropic Hypogonadism

بواسطة Bayram, Yavuz, Gulsuner, Suleyman, Guran, Tulay, Abaci, Ayhan, Yesil, Gozde, Gulsuner, Hilal Unal, Atay, Zeynep, Pierce, Sarah B., Gambin, Tomasz, Lee, Ming, Turan, Serap, Bober, Ece, Atik, Mehmed M., Walsh, Tom, Karaca, Ender, Pehlivan, Davut, Jhangiani, Shalini N., Muzny, Donna, Bereket, Abdullah, Buyukgebiz, Atilla, Boerwinkle, Eric, Gibbs, Richard A., King, Mary-Claire, Lupski, James R.
الحاوية / القاعدة J Clin Endocrinol Metab (2015)