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

Year Number of Results
1997 1
2002 1
2004 1
2005 1
2007 2
2008 2
2009 1
2010 5
2011 3
2012 6
2013 6
2014 10
2015 11
2016 10
2017 17
2018 10
2019 14
2020 7
2021 5
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97 results
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Page 1
Urea Cycle Dysregulation Generates Clinically Relevant Genomic and Biochemical Signatures.
Lee JS, Adler L, Karathia H, Carmel N, Rabinovich S, Auslander N, Keshet R, Stettner N, Silberman A, Agemy L, Helbling D, Eilam R, Sun Q, Brandis A, Malitsky S, Itkin M, Weiss H, Pinto S, Kalaora S, Levy R, Barnea E, Admon A, Dimmock D, Stern-Ginossar N, Scherz A, Nagamani SCS, Unda M, Wilson DM 3rd, Elhasid R, Carracedo A, Samuels Y, Hannenhalli S, Ruppin E, Erez A. Lee JS, et al. Among authors: helbling d. Cell. 2018 Sep 6;174(6):1559-1570.e22. doi: 10.1016/j.cell.2018.07.019. Epub 2018 Aug 9. Cell. 2018. PMID: 30100185 Free PMC article.
Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis.
Rabinovich S, Adler L, Yizhak K, Sarver A, Silberman A, Agron S, Stettner N, Sun Q, Brandis A, Helbling D, Korman S, Itzkovitz S, Dimmock D, Ulitsky I, Nagamani SC, Ruppin E, Erez A. Rabinovich S, et al. Among authors: helbling d. Nature. 2015 Nov 19;527(7578):379-383. doi: 10.1038/nature15529. Epub 2015 Nov 11. Nature. 2015. PMID: 26560030 Free PMC article.
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
Liang L, Li X, Moutton S, Schrier Vergano SA, Cogné B, Saint-Martin A, Hurst ACE, Hu Y, Bodamer O, Thevenon J, Hung CY, Isidor B, Gerard B, Rega A, Nambot S, Lehalle D, Duffourd Y, Thauvin-Robinet C, Faivre L, Bézieau S, Dure LS, Helbling DC, Bick D, Xu C, Chen Q, Mancini GMS, Vitobello A, Wang QK. Liang L, et al. Among authors: helbling dc. Hum Mol Genet. 2019 Sep 1;28(17):2937-2951. doi: 10.1093/hmg/ddz117. Hum Mol Genet. 2019. PMID: 31152168 Free PMC article.
Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.
Worthey EA, Mayer AN, Syverson GD, Helbling D, Bonacci BB, Decker B, Serpe JM, Dasu T, Tschannen MR, Veith RL, Basehore MJ, Broeckel U, Tomita-Mitchell A, Arca MJ, Casper JT, Margolis DA, Bick DP, Hessner MJ, Routes JM, Verbsky JW, Jacob HJ, Dimmock DP. Worthey EA, et al. Among authors: helbling d. Genet Med. 2011 Mar;13(3):255-62. doi: 10.1097/GIM.0b013e3182088158. Genet Med. 2011. PMID: 21173700
Impact of Hurricane Maria on Drinking Water Quality in Puerto Rico.
Lin Y, Sevillano-Rivera M, Jiang T, Li G, Cotto I, Vosloo S, Carpenter CMG, Larese-Casanova P, Giese RW, Helbling DE, Padilla IY, Rosario-Pabón Z, Vélez Vega C, Cordero JF, Alshawabkeh AN, Pinto A, Gu AZ. Lin Y, et al. Among authors: helbling de. Environ Sci Technol. 2020 Aug 4;54(15):9495-9509. doi: 10.1021/acs.est.0c01655. Epub 2020 Jul 23. Environ Sci Technol. 2020. PMID: 32640159
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