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753 results

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Page 1
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.
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.
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.
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
Lack of association of first and second-line medication dosing and progression to refractory status epilepticus in children.
Barcia Aguilar C, Amengual-Gual M, Brenton JN, Chapman KE, Clark J, Gaillard WD, Goldstein JL, Goodkin HP, Kahoud R, Lai YC, Mikati MA, Morgan LA, Payne ET, Press CA, Reece L, Sands TT, Sannagowdara K, Sheehan T, Shellhaas RA, Tasker RC, Wainwright MS, Zhang B, Loddenkemper T; pSERG. Barcia Aguilar C, et al. Among authors: goldstein jl. Seizure. 2024 Dec;123:133-141. doi: 10.1016/j.seizure.2024.10.017. Epub 2024 Oct 28. Seizure. 2024. PMID: 39550933
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.
Jain S, Trinidad M, Nguyen TB, Jones K, Neto SD, Ge F, Glagovsky A, Jones C, Moran G, Wang B, Rahimi K, Çalıcı SZ, Cedillo LR, Berardelli S, Özden B, Chen K, Katsonis P, Williams A, Lichtarge O, Rana S, Pradhan S, Srinivasan R, Sajeed R, Joshi D, Faraggi E, Jernigan R, Kloczkowski A, Xu J, Song Z, Özkan S, Padilla N, de la Cruz X, Acuna-Hidalgo R, Grafmüller A, Jiménez Barrón LT, Manfredi M, Savojardo C, Babbi G, Martelli PL, Casadio R, Sun Y, Zhu S, Shen Y, Pucci F, Rooman M, Cia G, Raimondi D, Hermans P, Kwee S, Chen E, Astore C, Kamandula A, Pejaver V, Ramola R, Velyunskiy M, Zeiberg D, Mishra R, Sterling T, Goldstein JL, Lugo-Martinez J, Kazi S, Li S, Long K, Brenner SE, Bakolitsa C, Radivojac P, Suhr D, Suhr T, Clark WT. Jain S, et al. Among authors: goldstein jl. bioRxiv [Preprint]. 2024 Jun 17:2024.05.16.594558. doi: 10.1101/2024.05.16.594558. bioRxiv. 2024. PMID: 38798479 Free PMC article. Preprint.
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 Aug;7(1):31-50. doi: 10.1146/annurev-biodatasci-102423-112456. Epub 2024 Jul 24. Annu Rev Biomed Data Sci. 2024. PMID: 38663031 Review.
753 results