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749 results

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The development of a highly informative mouse Simple Sequence Length Polymorphism (SSLP) marker set and construction of a mouse family tree using parsimony analysis.
Witmer PD, Doheny KF, Adams MK, Boehm CD, Dizon JS, Goldstein JL, Templeton TM, Wheaton AM, Dong PN, Pugh EW, Nussbaum RL, Hunter K, Kelmenson JA, Rowe LB, Brownstein MJ. Witmer PD, et al. Among authors: goldstein jl. Genome Res. 2003 Mar;13(3):485-91. doi: 10.1101/gr.717903. Genome Res. 2003. PMID: 12618379 Free PMC article.
Investigation of altering single-nucleotide polymorphism density on the power to detect trait loci and frequency of false positive in nonparametric linkage analyses of qualitative traits.
Klein AP, Tsai YY, Duggal P, Gillanders EM, Barnhart M, Mathias RA, Dusenberry IP, Turiff A, Chines PS, Goldstein J, Wojciechowski R, Hening W, Pugh EW, Bailey-Wilson JE. Klein AP, et al. BMC Genet. 2005 Dec 30;6 Suppl 1(Suppl 1):S20. doi: 10.1186/1471-2156-6-S1-S20. BMC Genet. 2005. PMID: 16451629 Free PMC article.
Comparison of novel and existing methods for detection of linkage disequilibrium using parent-child trios in the GAW12 genetic isolate simulated data.
Bailey-Wilson JE, Sorant AJ, Malley JD, Presciuttini S, Redner RA, Severini TA, Badner JA, Pajevic S, Jufer R, Baffoe-Bonnie A, Kao L, Doan BQ, Goldstein JL, Holmes TN, Behneman D, Mandal DM, Turley TN, Weissbecker KA, O'Neill J, Pugh EW. Bailey-Wilson JE, et al. Among authors: goldstein jl. Genet Epidemiol. 2001;21 Suppl 1:S378-83. doi: 10.1002/gepi.2001.21.s1.s378. Genet Epidemiol. 2001. PMID: 11793703
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.
Scott LJ, Mohlke KL, Bonnycastle LL, Willer CJ, Li Y, Duren WL, Erdos MR, Stringham HM, Chines PS, Jackson AU, Prokunina-Olsson L, Ding CJ, Swift AJ, Narisu N, Hu T, Pruim R, Xiao R, Li XY, Conneely KN, Riebow NL, Sprau AG, Tong M, White PP, Hetrick KN, Barnhart MW, Bark CW, Goldstein JL, Watkins L, Xiang F, Saramies J, Buchanan TA, Watanabe RM, Valle TT, Kinnunen L, Abecasis GR, Pugh EW, Doheny KF, Bergman RN, Tuomilehto J, Collins FS, Boehnke M. Scott LJ, et al. Among authors: goldstein jl. Science. 2007 Jun 1;316(5829):1341-5. doi: 10.1126/science.1142382. Epub 2007 Apr 26. Science. 2007. PMID: 17463248 Free PMC article.
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.
Wright MW, Thaxton CL, Nelson T, DiStefano MT, Savatt JM, Brush MH, Cheung G, Mandell ME, Wulf B, Ward TJ, Goehringer S, O'Neill T, Weller P, Preston CG, Keseler IM, Goldstein JL, Strande NT, McGlaughon J, Azzariti DR, Cordova I, Dziadzio H, Babb L, Riehle K, Milosavljevic A, Martin CL, Rehm HL, Plon SE, Berg JS, Riggs ER, Klein TE. Wright MW, et al. Among authors: goldstein jl. Annu Rev Biomed Data Sci. 2024 Apr 25. doi: 10.1146/annurev-biodatasci-102423-112456. Online ahead of print. Annu Rev Biomed Data Sci. 2024. PMID: 38663031 Review.
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
Goldstein JL, McGlaughon J, Kanavy D, Goomber S, Pan Y, Deml B, Donti T, Kearns L, Seifert BA, Schachter M, Son RG, Thaxton C, Udani R, Bali D, Baudet H, Caggana M, Hung C, Kyriakopoulou L, Rosenblum L, Steiner R, Pinto E Vairo F, Wang Y, Watson M, Fernandez R, Weaver M, Clarke L, Rehder C. Goldstein JL, et al. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107715. doi: 10.1016/j.ymgme.2023.107715. Epub 2023 Oct 26. Mol Genet Metab. 2023. PMID: 37907381
Pediatric status epilepticus management by Emergency Medical Services (the pSERG cohort).
Amengual-Gual M, Sánchez Fernández I, Vasquez A, Abend NS, Anderson A, Arya R, Barcia Aguilar C, Brenton JN, Carpenter JL, Chapman KE, Clark J, Farias-Moeller R, Gaillard WD, Glauser TA, Goldstein JL, Goodkin HP, Lai YC, Mikati MA, Morgan LA, Novotny EJ, Ostendorf AP, Payne ET, Peariso K, Piantino J, Reece L, Riviello JJ, Sannagowdara K, Sheehan T, Tasker RC, Tchapyjnikov D, Topjian AA, Wainwright MS, Wilfong A, Williams K, Loddenkemper T; Pediatric Status Epilepticus Research Group (pSERG). Amengual-Gual M, et al. Among authors: goldstein jl. Seizure. 2023 Oct;111:51-55. doi: 10.1016/j.seizure.2023.07.010. Epub 2023 Jul 16. Seizure. 2023. PMID: 37523933
749 results