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Year | Number of Results |
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2006 | 2 |
2021 | 1 |
2022 | 4 |
2023 | 2 |
2024 | 0 |
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Page 1
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Genet Med. 2022 Apr;24(4):784-797. doi: 10.1016/j.gim.2021.12.005. Epub 2022 Feb 9.
Genet Med. 2022.
PMID: 35148959
Free PMC article.
Review.
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Pujol-Giménez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M; University of Washington Center for Mendelian Genomics (UW-CMG)a, Undiagnosed Diseases Network (UDN); Bamshad MJ, Hisama FM, Jarvik GP, Dipple KM, Hediger MA, Stergachis AB.
Pujol-Giménez J, et al.
Ann Clin Transl Neurol. 2023 Jun;10(6):1046-1053. doi: 10.1002/acn3.51786. Epub 2023 May 16.
Ann Clin Transl Neurol. 2023.
PMID: 37194416
Free PMC article.
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SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group.
Serpieri V, et al.
J Med Genet. 2022 Sep;59(9):888-894. doi: 10.1136/jmedgenet-2021-108114. Epub 2021 Oct 21.
J Med Genet. 2022.
PMID: 34675124
Free PMC article.
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Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited setting.
Esterhuizen AI, Tiffin N, Riordan G, Wessels M, Burman RJ, Aziz MC, Calhoun JD, Gunti J, Amiri EE, Ramamurthy A, Bamshad MJ; University of Washington Centre for Mendelian Genomics (UW-CMG); Mefford HC, Ramesar R, Wilmshurst JM, Carvill GL.
Esterhuizen AI, et al.
Genet Med. 2023 Feb;25(2):100333. doi: 10.1016/j.gim.2022.11.002. Epub 2022 Dec 8.
Genet Med. 2023.
PMID: 36480001
Free article.
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Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
Shimada S, Ng BG, White AL, Nickander KK, Turgeon C, Liedtke KL, Lam CT, Font-Montgomery E, Lourenco CM, He M, Peck DS, Umana LA, Uhles CL, Haynes D, Wheeler PG, Bamshad MJ, Nickerson DA, Cushing T, Gates R, Gomez-Ospina N, Byers HM; UW Center for Mendelian Genomics; Scalco FB, Martinez NN, Sachdev R, Smith L, Poduri A, Malone S, Harris RV, Scheffer IE, Rosenzweig SD, Adams DR, Gahl WA, Malicdan MCV, Raymond KM, Freeze HH, Wolfe LA.
Shimada S, et al.
J Med Genet. 2022 Jul 5:jmedgenet-2021-108177. doi: 10.1136/jmedgenet-2021-108177. Online ahead of print.
J Med Genet. 2022.
PMID: 35790351
Free PMC article.
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Inflammatory response after influenza vaccination in men with and without carotid artery disease.
Carty CL, Heagerty P, Nakayama K, McClung EC, Lewis J, Lum D, Boespflug E, McCloud-Gehring C, Soleimani BR, Ranchalis J, Bacus TJ, Furlong CE, Jarvik GP.
Carty CL, et al. Among authors: bacus tj.
Arterioscler Thromb Vasc Biol. 2006 Dec;26(12):2738-44. doi: 10.1161/01.ATV.0000248534.30057.b5. Epub 2006 Oct 5.
Arterioscler Thromb Vasc Biol. 2006.
PMID: 17023683
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TagSNP analyses of the PON gene cluster: effects on PON1 activity, LDL oxidative susceptibility, and vascular disease.
Carlson CS, Heagerty PJ, Hatsukami TS, Richter RJ, Ranchalis J, Lewis J, Bacus TJ, McKinstry LA, Schellenberg GD, Rieder M, Nickerson D, Furlong CE, Chait A, Jarvik GP.
Carlson CS, et al. Among authors: bacus tj.
J Lipid Res. 2006 May;47(5):1014-24. doi: 10.1194/jlr.M500517-JLR200. Epub 2006 Feb 11.
J Lipid Res. 2006.
PMID: 16474172
Free article.
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