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

Year Number of Results
2002 1
2004 1
2012 1
2014 1
2016 2
2018 1
2019 2
2020 2
2021 1
2022 1
2023 0
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13 results
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Page 1
A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.
Ammous Z, Rawlins LE, Jones H, Leslie JS, Wenger O, Scott E, Deline J, Herr T, Evans R, Scheid A, Kennedy J, Chioza BA, Ames RM, Cross HE, Puffenberger EG, Harries L, Baple EL, Crosby AH. Ammous Z, et al. Among authors: deline j. PLoS Genet. 2021 Sep 27;17(9):e1009803. doi: 10.1371/journal.pgen.1009803. eCollection 2021 Sep. PLoS Genet. 2021. PMID: 34570759 Free PMC article.
No association between SCN9A and monogenic human epilepsy disorders.
Fasham J, Leslie JS, Harrison JW, Deline J, Williams KB, Kuhl A, Scott Schwoerer J, Cross HE, Crosby AH, Baple EL. Fasham J, et al. Among authors: deline j. PLoS Genet. 2020 Nov 20;16(11):e1009161. doi: 10.1371/journal.pgen.1009161. eCollection 2020 Nov. PLoS Genet. 2020. PMID: 33216760 Free PMC article.
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).
Lin S, Sanchez-Bretaño A, Leslie JS, Williams KB, Lee H, Thomas NS, Callaway J, Deline J, Ratnayaka JA, Baralle D, Schmitt MA, Norman CS, Hammond S, Harlalka GV, Ennis S, Cross HE, Wenger O, Crosby AH, Baple EL, Self JE. Lin S, et al. Among authors: deline j. NPJ Genom Med. 2022 Jan 13;7(1):2. doi: 10.1038/s41525-021-00275-9. NPJ Genom Med. 2022. PMID: 35027574 Free PMC article.
Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.
Bowser LE, Young M, Wenger OK, Ammous Z, Brigatti KW, Carson VJ, Moser T, Deline J, Aoki K, Morlet T, Scott EM, Puffenberger EG, Robinson DL, Hendrickson C, Salvin J, Gottlieb S, Heaps AD, Tiemeyer M, Strauss KA. Bowser LE, et al. Among authors: deline j. Mol Genet Metab. 2019 Apr;126(4):475-488. doi: 10.1016/j.ymgme.2019.01.013. Epub 2019 Jan 21. Mol Genet Metab. 2019. PMID: 30691927
13 results