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Acquisition, Analysis, and Sharing of Data in 2015 and Beyond: A Survey of the Landscape: A Conference Report From the American Heart Association Data Summit 2015.
Antman EM, Benjamin EJ, Harrington RA, Houser SR, Peterson ED, Bauman MA, Brown N, Bufalino V, Califf RM, Creager MA, Daugherty A, Demets DL, Dennis BP, Ebadollahi S, Jessup M, Lauer MS, Lo B, MacRae CA, McConnell MV, McCray AT, Mello MM, Mueller E, Newburger JW, Okun S, Packer M, Philippakis A, Ping P, Prasoon P, Roger VL, Singer S, Temple R, Turner MB, Vigilante K, Warner J, Wayte P; American Heart Association Data Sharing Summit Attendees. Antman EM, et al. Among authors: mccray at. J Am Heart Assoc. 2015 Nov 5;4(11):e002810. doi: 10.1161/JAHA.115.002810. J Am Heart Assoc. 2015. PMID: 26541391 Free PMC article.
The American Heart Association 2030 Impact Goal: A Presidential Advisory From the American Heart Association.
Angell SY, McConnell MV, Anderson CAM, Bibbins-Domingo K, Boyle DS, Capewell S, Ezzati M, de Ferranti S, Gaskin DJ, Goetzel RZ, Huffman MD, Jones M, Khan YM, Kim S, Kumanyika SK, McCray AT, Merritt RK, Milstein B, Mozaffarian D, Norris T, Roth GA, Sacco RL, Saucedo JF, Shay CM, Siedzik D, Saha S, Warner JJ. Angell SY, et al. Among authors: mccray at. Circulation. 2020 Mar 3;141(9):e120-e138. doi: 10.1161/CIR.0000000000000758. Epub 2020 Jan 29. Circulation. 2020. PMID: 31992057 Free PMC article.
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3.
Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH; Undiagnosed Diseases Network; Bademci G, Tekin M; Undiagnosed Diseases Network NIH. Borja NA, et al. J Med Genet. 2024 Dec 11:jmg-2024-109908. doi: 10.1136/jmg-2024-109908. Online ahead of print. J Med Genet. 2024. PMID: 39643435
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.
Borroto MC, Patel H, Srivastava S, Swanson LC, Keren B, Whalen S, Mignot C, Wang X, Chen Q, Rosenfeld JA, McLean S, Littlejohn RO; Undiagnosed Diseases Network; Emrick L, Burrage LC, Attali R, Lesca G, Acquaviva-Bourdain C, Sarret C, Seaver LH, Platzer K, Bartolomaeus T, Wünsch C, Fischer S, Rodriguez Barreto AM, Granadillo JL, Schreiner E, Brunet T, Schatz UA, Thiffault I, Mullegama SV, Michaud JL, Hamdan FF, Rossignol E, Campeau PM. Borroto MC, et al. Pediatr Neurol. 2024 Nov;160:45-53. doi: 10.1016/j.pediatrneurol.2024.07.010. Epub 2024 Jul 20. Pediatr Neurol. 2024. PMID: 39181022 Free article.
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.
Huang Y, Jay KL, Yen-Wen Huang A, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H; Undiagnosed Diseases Network; Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, Costin C, Yamamoto S, Kanca O, Bellen HJ, Rosenfeld JA, Palmer CGS, Nelson SF, Wangler MF, Martinez-Agosto JA. Huang Y, et al. Genet Med. 2024 Nov;26(11):101218. doi: 10.1016/j.gim.2024.101218. Epub 2024 Jul 19. Genet Med. 2024. PMID: 39036895 Free PMC article.
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Cole FS, Rios J, Bellen HJ. Moulton MJ, et al. Genet Med. 2024 Sep;26(9):101174. doi: 10.1016/j.gim.2024.101174. Epub 2024 Jun 3. Genet Med. 2024. PMID: 38847193
175 results