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Page 1
Rapid whole genome sequencing and precision neonatology.
Petrikin JE, Willig LK, Smith LD, Kingsmore SF. Petrikin JE, et al. Among authors: smith ld. Semin Perinatol. 2015 Dec;39(8):623-31. doi: 10.1053/j.semperi.2015.09.009. Epub 2015 Oct 29. Semin Perinatol. 2015. PMID: 26521050 Free PMC article. Review.
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Soden SE, Saunders CJ, Willig LK, Farrow EG, Smith LD, Petrikin JE, LePichon JB, Miller NA, Thiffault I, Dinwiddie DL, Twist G, Noll A, Heese BA, Zellmer L, Atherton AM, Abdelmoity AT, Safina N, Nyp SS, Zuccarelli B, Larson IA, Modrcin A, Herd S, Creed M, Ye Z, Yuan X, Brodsky RA, Kingsmore SF. Soden SE, et al. Among authors: smith ld. Sci Transl Med. 2014 Dec 3;6(265):265ra168. doi: 10.1126/scitranslmed.3010076. Sci Transl Med. 2014. PMID: 25473036 Free PMC article.
Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouse.
Saunders CJ, Moon SH, Liu X, Thiffault I, Coffman K, LePichon JB, Taboada E, Smith LD, Farrow EG, Miller N, Gibson M, Patterson M, Kingsmore SF, Gross RW. Saunders CJ, et al. Among authors: smith ld. Hum Mutat. 2015 Mar;36(3):301-6. doi: 10.1002/humu.22743. Hum Mutat. 2015. PMID: 25512002 Free PMC article.
An integrated transcriptome and expressed variant analysis of sepsis survival and death.
Tsalik EL, Langley RJ, Dinwiddie DL, Miller NA, Yoo B, van Velkinburgh JC, Smith LD, Thiffault I, Jaehne AK, Valente AM, Henao R, Yuan X, Glickman SW, Rice BJ, McClain MT, Carin L, Corey GR, Ginsburg GS, Cairns CB, Otero RM, Fowler VG Jr, Rivers EP, Woods CW, Kingsmore SF. Tsalik EL, et al. Among authors: smith ld. Genome Med. 2014 Nov 26;6(11):111. doi: 10.1186/s13073-014-0111-5. eCollection 2014. Genome Med. 2014. PMID: 25538794 Free PMC article.
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.
Willig LK, Petrikin JE, Smith LD, Saunders CJ, Thiffault I, Miller NA, Soden SE, Cakici JA, Herd SM, Twist G, Noll A, Creed M, Alba PM, Carpenter SL, Clements MA, Fischer RT, Hays JA, Kilbride H, McDonough RJ, Rosterman JL, Tsai SL, Zellmer L, Farrow EG, Kingsmore SF. Willig LK, et al. Among authors: smith ld. Lancet Respir Med. 2015 May;3(5):377-87. doi: 10.1016/S2213-2600(15)00139-3. Epub 2015 Apr 27. Lancet Respir Med. 2015. PMID: 25937001 Free PMC article.
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.
Miller NA, Farrow EG, Gibson M, Willig LK, Twist G, Yoo B, Marrs T, Corder S, Krivohlavek L, Walter A, Petrikin JE, Saunders CJ, Thiffault I, Soden SE, Smith LD, Dinwiddie DL, Herd S, Cakici JA, Catreux S, Ruehle M, Kingsmore SF. Miller NA, et al. Among authors: smith ld. Genome Med. 2015 Sep 30;7:100. doi: 10.1186/s13073-015-0221-8. Genome Med. 2015. PMID: 26419432 Free PMC article.
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
Guimier A, Gabriel GC, Bajolle F, Tsang M, Liu H, Noll A, Schwartz M, El Malti R, Smith LD, Klena NT, Jimenez G, Miller NA, Oufadem M, Moreau de Bellaing A, Yagi H, Saunders CJ, Baker CN, Di Filippo S, Peterson KA, Thiffault I, Bole-Feysot C, Cooley LD, Farrow EG, Masson C, Schoen P, Deleuze JF, Nitschké P, Lyonnet S, de Pontual L, Murray SA, Bonnet D, Kingsmore SF, Amiel J, Bouvagnet P, Lo CW, Gordon CT. Guimier A, et al. Among authors: smith ld. Nat Genet. 2015 Nov;47(11):1260-3. doi: 10.1038/ng.3376. Epub 2015 Oct 5. Nat Genet. 2015. PMID: 26437028 Free PMC article.
374 results