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

Yazar: Farr, Gist H., Ferkey, Denise M., Yost, Cynthia, Pierce, Sarah B., Weaver, Carole, Kimelman, David
Baskı/Yayın Bilgisi 2000

Drosophila Growth and Development in the Absence of dMyc and dMnt

Yazar: Pierce, Sarah B., Yost, Cynthia, Anderson, Sarah A. R., Flynn, Erin M., Delrow, Jeffrey, Eisenman, Robert N.
Baskı/Yayın Bilgisi 2007

De novo mutation in RING1 with epigenetic effects on neurodevelopment

Yazar: Pierce, Sarah B., Stewart, Mikaela D., Gulsuner, Suleyman, Walsh, Tom, Dhall, Abhinav, McClellan, Jon M., Klevit, Rachel E., King, Mary-Claire
Yayımlandı 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

Yazar: Pierce, Sarah B., Gersak, Ksenija, Michaelson-Cohen, Rachel, Walsh, Tom, Lee, Ming K., Malach, Daniel, Klevit, Rachel E., King, Mary-Claire, Levy-Lahad, Ephrat
Baskı/Yayın Bilgisi 2013

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

Yazar: 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
Baskı/Yayın Bilgisi 2011

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

Yazar: 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
Yayımlandı Cold Spring Harb Mol Case Stud (2016)

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

Yazar: 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
Baskı/Yayın Bilgisi 2010

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

Yazar: 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.
Yayımlandı Cold Spring Harb Mol Case Stud (2020)

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

Yazar: 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
Yayımlandı 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

Yazar: 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
Baskı/Yayın Bilgisi 2001

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

Yazar: 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.
Baskı/Yayın Bilgisi 2011

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

Yazar: 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.
Baskı/Yayın Bilgisi 2010

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

Yazar: 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.
Yayımlandı J Clin Endocrinol Metab (2015)