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Page 1
The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution.
Taylor DM, Aronow BJ, Tan K, Bernt K, Salomonis N, Greene CS, Frolova A, Henrickson SE, Wells A, Pei L, Jaiswal JK, Whitsett J, Hamilton KE, MacParland SA, Kelsen J, Heuckeroth RO, Potter SS, Vella LA, Terry NA, Ghanem LR, Kennedy BC, Helbig I, Sullivan KE, Castelo-Soccio L, Kreigstein A, Herse F, Nawijn MC, Koppelman GH, Haendel M, Harris NL, Rokita JL, Zhang Y, Regev A, Rozenblatt-Rosen O, Rood JE, Tickle TL, Vento-Tormo R, Alimohamed S, Lek M, Mar JC, Loomes KM, Barrett DM, Uapinyoying P, Beggs AH, Agrawal PB, Chen YW, Muir AB, Garmire LX, Snapper SB, Nazarian J, Seeholzer SH, Fazelinia H, Singh LN, Faryabi RB, Raman P, Dawany N, Xie HM, Devkota B, Diskin SJ, Anderson SA, Rappaport EF, Peranteau W, Wikenheiser-Brokamp KA, Teichmann S, Wallace D, Peng T, Ding YY, Kim MS, Xing Y, Kong SW, Bönnemann CG, Mandl KD, White PS. Taylor DM, et al. Among authors: beggs ah. Dev Cell. 2019 Apr 8;49(1):10-29. doi: 10.1016/j.devcel.2019.03.001. Epub 2019 Mar 28. Dev Cell. 2019. PMID: 30930166 Free PMC article. Review.
SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures.
Palmer S, Towne MC, Pearl PL, Pelletier RC, Genetti CA, Shi J, Beggs AH, Agrawal PB, Brownstein CA. Palmer S, et al. Among authors: beggs ah. Pediatr Neurol. 2016 Nov;64:77-79. doi: 10.1016/j.pediatrneurol.2016.07.012. Epub 2016 Jul 28. Pediatr Neurol. 2016. PMID: 27600546 Free PMC article.
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
Mehta P, Küspert M, Bale T, Brownstein CA, Towne MC, De Girolami U, Shi J, Beggs AH, Darras BT, Wegner M, Piao X, Agrawal PB. Mehta P, et al. Among authors: beggs ah. Muscle Nerve. 2017 May;55(5):761-765. doi: 10.1002/mus.25416. Epub 2017 Feb 3. Muscle Nerve. 2017. PMID: 27668699 Free PMC article.
A curated gene list for reporting results of newborn genomic sequencing.
Ceyhan-Birsoy O, Machini K, Lebo MS, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire A, Green RC, Beggs AH, Rehm HL. Ceyhan-Birsoy O, et al. Among authors: beggs ah. Genet Med. 2017 Jul;19(7):809-818. doi: 10.1038/gim.2016.193. Epub 2017 Jan 12. Genet Med. 2017. PMID: 28079900 Free PMC article.
Expanding the phenotypic spectrum associated with OPHN1 variants.
Schwartz TS, Wojcik MH, Pelletier RC, Edward HL, Picker JD, Holm IA, Towne MC, Beggs AH, Agrawal PB. Schwartz TS, et al. Among authors: beggs ah. Eur J Med Genet. 2019 Feb;62(2):137-143. doi: 10.1016/j.ejmg.2018.06.015. Epub 2018 Jun 28. Eur J Med Genet. 2019. PMID: 29960046 Free PMC article.
The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system.
Mandl KD, Glauser T, Krantz ID, Avillach P, Bartels A, Beggs AH, Biswas S, Bourgeois FT, Corsmo J, Dauber A, Devkota B, Fleisher GR, Heath AP, Helbig I, Hirschhorn JN, Kilbourn J, Kong SW, Kornetsky S, Majzoub JA, Marsolo K, Martin LJ, Nix J, Schwarzhoff A, Stedman J, Strauss A, Sund KL, Taylor DM, White PS, Marsh E, Grimberg A, Hawkes C; Genomics Research and Innovation Network. Mandl KD, et al. Among authors: beggs ah. Genet Med. 2020 Feb;22(2):371-380. doi: 10.1038/s41436-019-0646-3. Epub 2019 Sep 4. Genet Med. 2020. PMID: 31481752 Free PMC article.
Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system.
Mandl KD, Glauser T, Krantz ID, Avillach P, Bartels A, Beggs AH, Biswas S, Bourgeois FT, Corsmo J, Dauber A, Devkota B, Fleisher GR, Heath AP, Helbig I, Hirschhorn JN, Kilbourn J, Kong SW, Kornetsky S, Majzoub JA, Marsolo K, Martin LJ, Nix J, Schwarzhoff A, Stedman J, Strauss A, Sund KL, Taylor DM, White PS, Marsh E, Grimberg A, Hawkes C; Genomics Research and Innovation Network. Mandl KD, et al. Among authors: beggs ah. Genet Med. 2020 Feb;22(2):449. doi: 10.1038/s41436-019-0711-y. Genet Med. 2020. PMID: 31772351 Free PMC article.
379 results