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Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.
Kingsmore SF, Wright M, Smith LD, Liang Y, Mowrey WR, Protopsaltis L, Bainbridge M, Baker M, Batalov S, Blincow E, Cao B, Caylor S, Chambers C, Ellsworth K, Feigenbaum A, Frise E, Guidugli L, Hall KP, Hansen C, Kiel M, Van Der Kraan L, Krilow C, Kwon H, Madhavrao L, Lefebvre S, Leipzig J, Mardach R, Moore B, Oh D, Olsen L, Ontiveros E, Owen MJ, Reimers R, Scharer G, Schleit J, Shelnutt S, Mehtalia SS, Oriol A, Sanford E, Schwartz S, Wigby K, Willis MJ, Yandell M, Kunard CM, Defay T. Kingsmore SF, et al. Among authors: leipzig j. Am J Hum Genet. 2024 Dec 5;111(12):2618-2642. doi: 10.1016/j.ajhg.2024.10.021. Am J Hum Genet. 2024. PMID: 39642867
Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial.
Kingsmore SF, Wright M, Olsen L, Schultz B, Protopsaltis L, Averbuj D, Blincow E, Carroll J, Caylor S, Defay T, Ellsworth K, Feigenbaum A, Gover M, Guidugli L, Hansen C, Van Der Kraan L, Kunard CM, Kwon H, Madhavrao L, Leipzig J, Liang Y, Mardach R, Mowrey WR, Nguyen H, Niemi AK, Oh D, Saad M, Scharer G, Schleit J, Mehtalia SS, Sanford E, Smith LD, Willis MJ, Wigby K, Reimers R. Kingsmore SF, et al. Among authors: leipzig j. Am J Hum Genet. 2024 Dec 5;111(12):2643-2667. doi: 10.1016/j.ajhg.2024.10.020. Am J Hum Genet. 2024. PMID: 39642868
The role of metadata in reproducible computational research.
Leipzig J, Nüst D, Hoyt CT, Ram K, Greenberg J. Leipzig J, et al. Patterns (N Y). 2021 Sep 10;2(9):100322. doi: 10.1016/j.patter.2021.100322. eCollection 2021 Sep 10. Patterns (N Y). 2021. PMID: 34553169 Free PMC article. Review.
Mitochondrial DNA Variation Dictates Expressivity and Progression of Nuclear DNA Mutations Causing Cardiomyopathy.
McManus MJ, Picard M, Chen HW, De Haas HJ, Potluri P, Leipzig J, Towheed A, Angelin A, Sengupta P, Morrow RM, Kauffman BA, Vermulst M, Narula J, Wallace DC. McManus MJ, et al. Among authors: leipzig j. Cell Metab. 2019 Jan 8;29(1):78-90.e5. doi: 10.1016/j.cmet.2018.08.002. Epub 2018 Aug 30. Cell Metab. 2019. PMID: 30174309 Free PMC article.
Mitochondrial energy deficiency leads to hyperproliferation of skeletal muscle mitochondria and enhanced insulin sensitivity.
Morrow RM, Picard M, Derbeneva O, Leipzig J, McManus MJ, Gouspillou G, Barbat-Artigas S, Dos Santos C, Hepple RT, Murdock DG, Wallace DC. Morrow RM, et al. Among authors: leipzig j. Proc Natl Acad Sci U S A. 2017 Mar 7;114(10):2705-2710. doi: 10.1073/pnas.1700997114. Epub 2017 Feb 21. Proc Natl Acad Sci U S A. 2017. PMID: 28223503 Free PMC article.
A review of bioinformatic pipeline frameworks.
Leipzig J. Leipzig J. Brief Bioinform. 2017 May 1;18(3):530-536. doi: 10.1093/bib/bbw020. Brief Bioinform. 2017. PMID: 27013646 Free PMC article. Review.
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease.
Shen L, Diroma MA, Gonzalez M, Navarro-Gomez D, Leipzig J, Lott MT, van Oven M, Wallace DC, Muraresku CC, Zolkipli-Cunningham Z, Chinnery PF, Attimonelli M, Zuchner S, Falk MJ, Gai X. Shen L, et al. Among authors: leipzig j. Hum Mutat. 2016 Jun;37(6):540-548. doi: 10.1002/humu.22974. Epub 2016 Mar 21. Hum Mutat. 2016. PMID: 26919060 Free PMC article.
43 results