Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

124 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids.
Eichler FS, Li J, Guo Y, Caruso PA, Bjonnes AC, Pan J, Booker JK, Lane JM, Tare A, Vlasac I, Hakonarson H, Gusella JF, Zhang J, Keating BJ, Saxena R. Eichler FS, et al. Among authors: keating bj. Brain. 2016 Jun;139(Pt 6):1666-72. doi: 10.1093/brain/aww066. Epub 2016 May 5. Brain. 2016. PMID: 27190017 Free PMC article.
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
Menezes MJ, Guo Y, Zhang J, Riley LG, Cooper ST, Thorburn DR, Li J, Dong D, Li Z, Glessner J, Davis RL, Sue CM, Alexander SI, Arbuckle S, Kirwan P, Keating BJ, Xu X, Hakonarson H, Christodoulou J. Menezes MJ, et al. Among authors: keating bj. Hum Mol Genet. 2015 Apr 15;24(8):2297-307. doi: 10.1093/hmg/ddu747. Epub 2015 Jan 2. Hum Mol Genet. 2015. PMID: 25556185
Gene-Centric Analysis of Preeclampsia Identifies Maternal Association at PLEKHG1.
Gray KJ, Kovacheva VP, Mirzakhani H, Bjonnes AC, Almoguera B, DeWan AT, Triche EW, Saftlas AF, Hoh J, Bodian DL, Klein E, Huddleston KC, Ingles SA, Lockwood CJ, Hakonarson H, McElrath TF, Murray JC, Wilson ML, Norwitz ER, Karumanchi SA, Bateman BT, Keating BJ, Saxena R. Gray KJ, et al. Among authors: keating bj. Hypertension. 2018 Aug;72(2):408-416. doi: 10.1161/HYPERTENSIONAHA.117.10688. Epub 2018 Jul 2. Hypertension. 2018. PMID: 29967039 Free PMC article.
Risk of pre-eclampsia in patients with a maternal genetic predisposition to common medical conditions: a case-control study.
Gray KJ, Kovacheva VP, Mirzakhani H, Bjonnes AC, Almoguera B, Wilson ML, Ingles SA, Lockwood CJ, Hakonarson H, McElrath TF, Murray JC, Norwitz ER, Karumanchi SA, Bateman BT, Keating BJ, Saxena R. Gray KJ, et al. Among authors: keating bj. BJOG. 2021 Jan;128(1):55-65. doi: 10.1111/1471-0528.16441. Epub 2020 Sep 14. BJOG. 2021. PMID: 32741103 Free PMC article.
Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing.
Guo Y, Hwang LD, Li J, Eades J, Yu CW, Mansfield C, Burdick-Will A, Chang X, Chen Y, Duke FF, Zhang J, Fakharzadeh S, Fennessey P, Keating BJ, Jiang H, Hakonarson H, Reed DR, Preti G. Guo Y, et al. Among authors: keating bj. BMC Med Genet. 2017 Feb 15;18(1):11. doi: 10.1186/s12881-017-0369-8. BMC Med Genet. 2017. PMID: 28196478 Free PMC article.
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.
Saxena R, Elbers CC, Guo Y, Peter I, Gaunt TR, Mega JL, Lanktree MB, Tare A, Castillo BA, Li YR, Johnson T, Bruinenberg M, Gilbert-Diamond D, Rajagopalan R, Voight BF, Balasubramanyam A, Barnard J, Bauer F, Baumert J, Bhangale T, Böhm BO, Braund PS, Burton PR, Chandrupatla HR, Clarke R, Cooper-DeHoff RM, Crook ED, Davey-Smith G, Day IN, de Boer A, de Groot MC, Drenos F, Ferguson J, Fox CS, Furlong CE, Gibson Q, Gieger C, Gilhuijs-Pederson LA, Glessner JT, Goel A, Gong Y, Grant SF, Grobbee DE, Hastie C, Humphries SE, Kim CE, Kivimaki M, Kleber M, Meisinger C, Kumari M, Langaee TY, Lawlor DA, Li M, Lobmeyer MT, Maitland-van der Zee AH, Meijs MF, Molony CM, Morrow DA, Murugesan G, Musani SK, Nelson CP, Newhouse SJ, O'Connell JR, Padmanabhan S, Palmen J, Patel SR, Pepine CJ, Pettinger M, Price TS, Rafelt S, Ranchalis J, Rasheed A, Rosenthal E, Ruczinski I, Shah S, Shen H, Silbernagel G, Smith EN, Spijkerman AW, Stanton A, Steffes MW, Thorand B, Trip M, van der Harst P, van der A DL, van Iperen EP, van Setten J, van Vliet-Ostaptchouk JV, Verweij N, Wolffenbuttel BH, Young T, Zafarmand MH, Zmuda JM; Look AHEAD Research Group; DIAGRAM consortium; Boehnke M, Altshuler D, McCarthy M, Kao W… See abstract for full author list ➔ Saxena R, et al. Among authors: keating bj. Am J Hum Genet. 2012 Mar 9;90(3):410-25. doi: 10.1016/j.ajhg.2011.12.022. Epub 2012 Feb 9. Am J Hum Genet. 2012. PMID: 22325160 Free PMC article.
Machine learning derived risk prediction of anorexia nervosa.
Guo Y, Wei Z, Keating BJ; Genetic Consortium for Anorexia Nervosa; Wellcome Trust Case Control Consortium 3; Price Foundation Collaborative Group; Hakonarson H. Guo Y, et al. Among authors: keating bj. BMC Med Genomics. 2016 Jan 20;9:4. doi: 10.1186/s12920-016-0165-x. BMC Med Genomics. 2016. PMID: 26792494 Free PMC article.
124 results