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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1992 1
1994 3
1995 1
1996 2
1998 3
1999 1
2001 1
2002 2
2003 4
2004 2
2005 1
2006 2
2007 1
2012 1
2013 2
2014 2
2015 1
2016 2
2017 2
2018 1
2019 3
2020 1
2021 4
2022 1
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41 results
Results by year
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Page 1
Reanalysis of Clinical Exome Sequencing Data.
Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang Y. Liu P, et al. Among authors: mancias p. N Engl J Med. 2019 Jun 20;380(25):2478-2480. doi: 10.1056/NEJMc1812033. N Engl J Med. 2019. PMID: 31216405 Free PMC article. No abstract available.
Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy.
Calame DG, Fatih J, Herman I, Akdemir ZC, Du H, Jhangiani SN, Gibbs RA, Marafi D, Pehlivan D, Posey JE, Lotze T, Mancias P, Bhattacharjee MB, Lupski JR. Calame DG, et al. Among authors: mancias p. Neurol Genet. 2021 Apr 26;7(3):e589. doi: 10.1212/NXG.0000000000000589. eCollection 2021 Jun. Neurol Genet. 2021. PMID: 33977145 Free PMC article.
Uniparental Disomy Leading to a Rare Juvenile Form of ALS.
Karasozen Y, Sheikh KA, Mancias P, Nguyen TP. Karasozen Y, et al. Among authors: mancias p. J Pediatr Perinatol Child Health. 2020;4(4):107-110. doi: 10.26502/jppch.74050049. Epub 2020 Oct 10. J Pediatr Perinatol Child Health. 2020. PMID: 33123684 Free PMC article. No abstract available.
Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models.
Morelli KH, Griffin LB, Pyne NK, Wallace LM, Fowler AM, Oprescu SN, Takase R, Wei N, Meyer-Schuman R, Mellacheruvu D, Kitzman JO, Kocen SG, Hines TJ, Spaulding EL, Lupski JR, Nesvizhskii A, Mancias P, Butler IJ, Yang XL, Hou YM, Antonellis A, Harper SQ, Burgess RW. Morelli KH, et al. Among authors: mancias p. J Clin Invest. 2019 Dec 2;129(12):5568-5583. doi: 10.1172/JCI130600. J Clin Invest. 2019. PMID: 31557132 Free PMC article.
Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency.
Preisler N, Cohen J, Vissing CR, Madsen KL, Heinicke K, Sharp LJ, Phillips L, Romain N, Park SY, Newby M, Wyrick P, Mancias P, Galbo H, Vissing J, Haller RG. Preisler N, et al. Among authors: mancias p. Mol Genet Metab. 2017 Nov;122(3):117-121. doi: 10.1016/j.ymgme.2017.08.007. Epub 2017 Aug 25. Mol Genet Metab. 2017. PMID: 28882528
Identification of a novel microdeletion causative of Nance-Horan syndrome.
Lopez Martinolich M, Northrup H, Mancias P, Hillman P, Rao K, Mowrey K. Lopez Martinolich M, et al. Among authors: mancias p. Mol Genet Genomic Med. 2022 Mar;10(3):e1879. doi: 10.1002/mgg3.1879. Epub 2022 Feb 5. Mol Genet Genomic Med. 2022. PMID: 35122698 Free PMC article.
41 results