Pierce SB - Search Results

1

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

Pierce SB, Spurrell CH, Mandell JB, Lee MK, Zeligson S, Bereman MS, Stray SM, Fokstuen S, MacCoss MJ, Levy-Lahad E, King MC, Motulsky AG. Pierce SB, et al. Proc Natl Acad Sci U S A. 2011 Nov 8;108(45):18313-7. doi: 10.1073/pnas.1115888108. Epub 2011 Oct 31. Proc Natl Acad Sci U S A. 2011. PMID: 22042873 Free PMC article.

2

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia.

Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, Nord AS, Kusenda M, Malhotra D, Bhandari A, Stray SM, Rippey CF, Roccanova P, Makarov V, Lakshmi B, Findling RL, Sikich L, Stromberg T, Merriman B, Gogtay N, Butler P, Eckstrand K, Noory L, Gochman P, Long R, Chen Z, Davis S, Baker C, Eichler EE, Meltzer PS, Nelson SF, Singleton AB, Lee MK, Rapoport JL, King MC, Sebat J. Walsh T, et al. Among authors: pierce sb. Science. 2008 Apr 25;320(5875):539-43. doi: 10.1126/science.1155174. Epub 2008 Mar 27. Science. 2008. PMID: 18369103

3

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.

Walsh T, Pierce SB, Lenz DR, Brownstein Z, Dagan-Rosenfeld O, Shahin H, Roeb W, McCarthy S, Nord AS, Gordon CR, Ben-Neriah Z, Sebat J, Kanaan M, Lee MK, Frydman M, King MC, Avraham KB. Walsh T, et al. Among authors: pierce sb. Am J Hum Genet. 2010 Jul 9;87(1):101-9. doi: 10.1016/j.ajhg.2010.05.011. Epub 2010 Jun 17. Am J Hum Genet. 2010. PMID: 20602916 Free PMC article.

4

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.

Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, Fiumara A, Opitz JM, Levy-Lahad E, Klevit RE, King MC. Pierce SB, et al. Am J Hum Genet. 2010 Aug 13;87(2):282-8. doi: 10.1016/j.ajhg.2010.07.007. Epub 2010 Jul 30. Am J Hum Genet. 2010. PMID: 20673864 Free PMC article.

5

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

Pierce SB, Chisholm KM, Lynch ED, Lee MK, Walsh T, Opitz JM, Li W, Klevit RE, King MC. Pierce SB, et al. Proc Natl Acad Sci U S A. 2011 Apr 19;108(16):6543-8. doi: 10.1073/pnas.1103471108. Epub 2011 Apr 4. Proc Natl Acad Sci U S A. 2011. PMID: 21464306 Free PMC article.

6

Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.

Pierce SB, Gersak K, Michaelson-Cohen R, Walsh T, Lee MK, Malach D, Klevit RE, King MC, Levy-Lahad E. Pierce SB, et al. Am J Hum Genet. 2013 Apr 4;92(4):614-20. doi: 10.1016/j.ajhg.2013.03.007. Epub 2013 Mar 28. Am J Hum Genet. 2013. PMID: 23541342 Free PMC article.

7

Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia.

Rippey C, Walsh T, Gulsuner S, Brodsky M, Nord AS, Gasperini M, Pierce S, Spurrell C, Coe BP, Krumm N, Lee MK, Sebat J, McClellan JM, King MC. Rippey C, et al. Am J Hum Genet. 2013 Oct 3;93(4):697-710. doi: 10.1016/j.ajhg.2013.09.004. Am J Hum Genet. 2013. PMID: 24094746 Free PMC article.

8

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

Navon Elkan P, Pierce SB, Segel R, Walsh T, Barash J, Padeh S, Zlotogorski A, Berkun Y, Press JJ, Mukamel M, Voth I, Hashkes PJ, Harel L, Hoffer V, Ling E, Yalcinkaya F, Kasapcopur O, Lee MK, Klevit RE, Renbaum P, Weinberg-Shukron A, Sener EF, Schormair B, Zeligson S, Marek-Yagel D, Strom TM, Shohat M, Singer A, Rubinow A, Pras E, Winkelmann J, Tekin M, Anikster Y, King MC, Levy-Lahad E. Navon Elkan P, et al. Among authors: pierce sb. N Engl J Med. 2014 Mar 6;370(10):921-31. doi: 10.1056/NEJMoa1307362. Epub 2014 Feb 19. N Engl J Med. 2014. PMID: 24552285 Free article.

9

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

Morino H, Pierce SB, Matsuda Y, Walsh T, Ohsawa R, Newby M, Hiraki-Kamon K, Kuramochi M, Lee MK, Klevit RE, Martin A, Maruyama H, King MC, Kawakami H. Morino H, et al. Among authors: pierce sb. Neurology. 2014 Nov 25;83(22):2054-61. doi: 10.1212/WNL.0000000000001036. Epub 2014 Oct 29. Neurology. 2014. PMID: 25355836 Free PMC article.

10

Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.

Bayram Y, Gulsuner S, Guran T, Abaci A, Yesil G, Gulsuner HU, Atay Z, Pierce SB, Gambin T, Lee M, Turan S, Bober E, Atik MM, Walsh T, Karaca E, Pehlivan D, Jhangiani SN, Muzny D, Bereket A, Buyukgebiz A, Boerwinkle E, Gibbs RA, King MC, Lupski JR. Bayram Y, et al. Among authors: pierce sb. J Clin Endocrinol Metab. 2015 May;100(5):E808-14. doi: 10.1210/jc.2015-1150. Epub 2015 Mar 16. J Clin Endocrinol Metab. 2015. PMID: 25774885 Free PMC article.

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