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Page 1
A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood.
Keywan C, Holm IA, Poduri A, Brownstein CA, Alexandrescu S, Chen J, Geffre C, Goldstein RD. Keywan C, et al. Among authors: brownstein ca. Eur J Med Genet. 2020 Sep;63(9):104002. doi: 10.1016/j.ejmg.2020.104002. Epub 2020 Jul 8. Eur J Med Genet. 2020. PMID: 32652122 Free PMC article.
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.
Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P, Kutsche K, Campeau PM, Yu TW, Margulies DM, Agrawal PB, Beggs AH. Brownstein CA, et al. Eur J Med Genet. 2013 Dec;56(12):678-82. doi: 10.1016/j.ejmg.2013.09.009. Epub 2013 Oct 28. Eur J Med Genet. 2013. PMID: 24176758 Free PMC article.
Data sharing in the undiagnosed diseases network.
Brownstein CA, Holm IA, Ramoni R, Goldstein DB; Members of the Undiagnosed Diseases Network. Brownstein CA, et al. Hum Mutat. 2015 Oct;36(10):985-8. doi: 10.1002/humu.22840. Epub 2015 Aug 27. Hum Mutat. 2015. PMID: 26220576 Free PMC article.
The Matchmaker Exchange: a platform for rare disease gene discovery.
Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL. Philippakis AA, et al. Among authors: brownstein ca. Hum Mutat. 2015 Oct;36(10):915-21. doi: 10.1002/humu.22858. Hum Mutat. 2015. PMID: 26295439 Free PMC article.
Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum.
Kinney HC, Poduri AH, Cryan JB, Haynes RL, Teot L, Sleeper LA, Holm IA, Berry GT, Prabhu SP, Warfield SK, Brownstein C, Abram HS, Kruer M, Kemp WL, Hargitai B, Gastrang J, Mena OJ, Haas EA, Dastjerdi R, Armstrong DD, Goldstein RD. Kinney HC, et al. J Neuropathol Exp Neurol. 2016 Oct;75(10):981-997. doi: 10.1093/jnen/nlw075. Epub 2016 Sep 9. J Neuropathol Exp Neurol. 2016. PMID: 27612489 Free PMC article.
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.
Ramoni RB, Mulvihill JJ, Adams DR, Allard P, Ashley EA, Bernstein JA, Gahl WA, Hamid R, Loscalzo J, McCray AT, Shashi V, Tifft CJ; Undiagnosed Diseases Network; Wise AL. Ramoni RB, et al. Am J Hum Genet. 2017 Feb 2;100(2):185-192. doi: 10.1016/j.ajhg.2017.01.006. Am J Hum Genet. 2017. PMID: 28157539 Free PMC article.
SCN1A variants associated with sudden infant death syndrome.
Brownstein CA, Goldstein RD, Thompson CH, Haynes RL, Giles E, Sheidley B, Bainbridge M, Haas EA, Mena OJ, Lucas J, Schaber B, Holm IA, George AL, Kinney HC, Poduri AH. Brownstein CA, et al. Epilepsia. 2018 Apr;59(4):e56-e62. doi: 10.1111/epi.14055. Epub 2018 Mar 30. Epilepsia. 2018. PMID: 29601086 Free PMC article.
Plain-language medical vocabulary for precision diagnosis.
Vasilevsky NA, Foster ED, Engelstad ME, Carmody L, Might M, Chambers C, Dawkins HJS, Lewis J, Della Rocca MG, Snyder M, Boerkoel CF, Rath A, Terry SF, Kent A, Searle B, Baynam G, Jones E, Gavin P, Bamshad M, Chong J, Groza T, Adams D, Resnick AC, Heath AP, Mungall C, Holm IA, Rageth K, Brownstein CA, Shefchek K, McMurry JA, Robinson PN, Köhler S, Haendel MA. Vasilevsky NA, et al. Among authors: brownstein ca. Nat Genet. 2018 Apr;50(4):474-476. doi: 10.1038/s41588-018-0096-x. Nat Genet. 2018. PMID: 29632381 Free PMC article. No abstract available.
De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report.
Mavros CF, Brownstein CA, Thyagrajan R, Genetti CA, Tembulkar S, Graber K, Murphy Q, Cabral K, VanNoy GE, Bainbridge M, Shi J, Agrawal PB, Beggs AH, D'Angelo E, Gonzalez-Heydrich J. Mavros CF, et al. Among authors: brownstein ca. BMC Med Genet. 2018 Nov 13;19(1):197. doi: 10.1186/s12881-018-0711-9. BMC Med Genet. 2018. PMID: 30424743 Free PMC article.
82 results