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Page 1
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Küry S, Ebstein F, Mollé A, Besnard T, Lee MK, Vignard V, Hery T, Nizon M, Mancini GMS, Giltay JC, Cogné B, McWalter K, Deb W, Mor-Shaked H, Li H, Schnur RE, Wentzensen IM, Denommé-Pichon AS, Fourgeux C, Verheijen FW, Faurie E, Schot R, Stevens CA, Smits DJ, Barr E, Sheffer R, Bernstein JA, Stimach CL, Kovitch E, Shashi V, Schoch K, Smith W, van Jaarsveld RH, Hurst ACE, Smith K, Baugh EH, Bohm SG, Vyhnálková E, Ryba L, Delnatte C, Neira J, Bonneau D, Toutain A, Rosenfeld JA; Undiagnosed Diseases Network; Audebert-Bellanger S, Gilbert-Dussardier B, Odent S, Laumonnier F, Berger SI, Smith ACM, Bourdeaut F, Stern MH, Redon R, Krüger E, Margueron R, Bézieau S, Poschmann J, Isidor B. Küry S, et al. Among authors: barr e. Am J Hum Genet. 2022 Feb 3;109(2):361-372. doi: 10.1016/j.ajhg.2021.12.011. Epub 2022 Jan 19. Am J Hum Genet. 2022. PMID: 35051358 Free PMC article.
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Küry S, Zhang J, Besnard T, Caro-Llopis A, Zeng X, Robert SM, Josiah SS, Kiziltug E, Denommé-Pichon AS, Cogné B, Kundishora AJ, Hao LT, Li H, Stevenson RE, Louie RJ, Deb W, Torti E, Vignard V, McWalter K, Raymond FL, Rajabi F, Ranza E, Grozeva D, Coury SA, Blanc X, Brischoux-Boucher E, Keren B, Õunap K, Reinson K, Ilves P, Wentzensen IM, Barr EE, Guihard SH, Charles P, Seaby EG, Monaghan KG, Rio M, van Bever Y, van Slegtenhorst M, Chung WK, Wilson A, Quinquis D, Bréhéret F, Retterer K, Lindenbaum P, Scalais E, Rhodes L, Stouffs K, Pereira EM, Berger SM, Milla SS, Jaykumar AB, Cobb MH, Panchagnula S, Duy PQ, Vincent M, Mercier S, Gilbert-Dussardier B, Le Guillou X, Audebert-Bellanger S, Odent S, Schmitt S, Boisseau P, Bonneau D, Toutain A, Colin E, Pasquier L, Redon R, Bouman A, Rosenfeld JA, Friez MJ, Pérez-Peña H, Akhtar Rizvi SR, Haider S, Antonarakis SE, Schwartz CE, Martínez F, Bézieau S, Kahle KT, Isidor B. Küry S, et al. Among authors: barr ee. Genet Med. 2022 Sep;24(9):1941-1951. doi: 10.1016/j.gim.2022.05.009. Epub 2022 Jun 9. Genet Med. 2022. PMID: 35678782 Free article.
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Ng BG, Eklund EA, Shiryaev SA, Dong YY, Abbott MA, Asteggiano C, Bamshad MJ, Barr E, Bernstein JA, Chelakkadan S, Christodoulou J, Chung WK, Ciliberto MA, Cousin J, Gardiner F, Ghosh S, Graf WD, Grunewald S, Hammond K, Hauser NS, Hoganson GE, Houck KM, Kohler JN, Morava E, Larson AA, Liu P, Madathil S, McCormack C, Meeks NJL, Miller R, Monaghan KG, Nickerson DA, Palculict TB, Papazoglu GM, Pletcher BA, Scheffer IE, Schenone AB, Schnur RE, Si Y, Rowe LJ, Serrano Russi AH, Russo RS, Thabet F, Tuite A, Villanueva MM, Wang RY, Webster RI, Wilson D, Zalan A; Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW-CMG); Wolfe LA, Rosenfeld JA, Rhodes L, Freeze HH. Ng BG, et al. Among authors: barr e. J Inherit Metab Dis. 2020 Nov;43(6):1333-1348. doi: 10.1002/jimd.12290. Epub 2020 Aug 5. J Inherit Metab Dis. 2020. PMID: 32681751 Free PMC article.
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.
Hüffmeier U, Kraus C, Reuter MS, Uebe S, Abbott MA, Ahmed SA, Rawson KL, Barr E, Li H, Bruel AL, Faivre L, Tran Mau-Them F, Botti C, Brooks S, Burns K, Ward DI, Dutra-Clarke M, Martinez-Agosto JA, Lee H, Nelson SF; UCLA California Center for Rare Disease; Zacher P, Abou Jamra R, Klöckner C, McGaughran J, Kohlhase J, Schuhmann S, Moran E, Pappas J, Raas-Rothschild A, Sacoto MJG, Henderson LB, Palculict TB, Mullegama SV, Zghal Elloumi H, Reich A, Schrier Vergano SA, Wahl E, Reis A, Zweier C. Hüffmeier U, et al. Among authors: barr e. Orphanet J Rare Dis. 2021 Mar 18;16(1):136. doi: 10.1186/s13023-021-01744-1. Orphanet J Rare Dis. 2021. PMID: 33736665 Free PMC article.
Recurrent acute hypersensitivity to quinine.
Barr E, Douglas JF, Hill CM. Barr E, et al. BMJ. 1990 Aug 11;301(6747):323. doi: 10.1136/bmj.301.6747.323. BMJ. 1990. PMID: 2393740 Free PMC article. No abstract available.
Corrigendum to "Type 2 diabetes after a pregnancy with gestational diabetes among first nations women in Australia: The PANDORA study" [Diabetes Res. Clin. Pract. 181 (2021) 109092].
Wood AJ, Boyle JA, Barr ELM, Barzi F, Hare MJL, Titmuss A, Longmore DK, Death E, Kelaart J, Kirkwood M, Graham S, Connors C, Moore E, O'Dea K, Oats JJN, McIntyre HD, Zimmet PZ, Lu ZX, Brown A, Shaw JE, Maple-Brown LJ. Wood AJ, et al. Among authors: barr elm. Diabetes Res Clin Pract. 2024 May 7:111687. doi: 10.1016/j.diabres.2024.111687. Online ahead of print. Diabetes Res Clin Pract. 2024. PMID: 38719761 Free article. No abstract available.
SNAPSHOT USA 2021: A third coordinated national camera trap survey of the United States.
Shamon H, Maor R, Cove MV, Kays R, Adley J, Alexander PD, Allen DN, Allen ML, Appel CL, Barr E, Barthelmess EL, Baruzzi C, Bashaw K, Bastille-Rousseau G, Baugh ME, Belant J, Benson JF, Bespoyasny BA, Bird T, Bogan DA, Brandt LSE, Bresnan CE, Brooke JM, Buderman FE, Buzzell SG, Cheeseman AE, Chitwood MC, Chrysafis P, Collins MK, Collins DP, Compton JA, Conner LM, Cosby OG, Coster SS, Crawford B, Crupi AP, Darracq AK, Davis ML, DeGregorio BA, Denningmann KL, Dougherty KD, Driver A, Edelman AJ, Ellington EH, Ellis-Felege SN, Ellison CN, Fantle-Lepczyk JE, Farris ZJ, Favreau J, Fernandez P, Fisher-Reid MC, Fitzpatrick MC, Flaherty EA, Forrester TD, Fritts SR, Gallo T, Gerber BD, Giery ST, Glasscock JL, Gonatas AD, Grady AC, Green AM, Gregory T, Griffin N, Hagen RH, Hansen CP, Hansen LP, Hasstedt SC, Hernández-Yáñez H, Herrera DJ, Horan RV 3rd, Jackson VL, Johnson L, Jordan MJ, Kahano W, Kiser J, Knowles TW, Koeck MM, Koroly C, Kuhn KM, Kuprewicz EK, Lafferty DJR, LaPoint SD, Lashley M, Lathrop RG, Lee TE Jr, Lepczyk CA, Lesmeister DB, Lombardi JV, Long RA, Lonsinger RC, MacKay P, Maher SP, Mason DS, Millspaugh JJ, Moll RJ, Moon JB, Mortelliti A, Mychajliw AM, Nagy CM, Neiswente… See abstract for full author list ➔ Shamon H, et al. Among authors: barr e. Ecology. 2024 May 1:e4318. doi: 10.1002/ecy.4318. Online ahead of print. Ecology. 2024. PMID: 38693703
564 results