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Page 1
Mind the Quality Gap When Banking on Dry Blood Spots.
Carpentieri D, Colvard A, Petersen J, Marsh W, David-Dirgo V, Huentelman M, Pirrotte P, Sivakumaran TA. Carpentieri D, et al. Among authors: huentelman m. Biopreserv Biobank. 2021 Apr;19(2):136-142. doi: 10.1089/bio.2020.0131. Epub 2021 Feb 9. Biopreserv Biobank. 2021. PMID: 33567235 Review.
Improved methods for RNAseq-based alternative splicing analysis.
Halperin RF, Hegde A, Lang JD, Raupach EA; C4RCD Research Group; Legendre C, Liang WS, LoRusso PM, Sekulic A, Sosman JA, Trent JM, Rangasamy S, Pirrotte P, Schork NJ. Halperin RF, et al. Sci Rep. 2021 May 24;11(1):10740. doi: 10.1038/s41598-021-89938-2. Sci Rep. 2021. PMID: 34031440 Free PMC article.
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.
Balak C, Belnap N, Ramsey K, Joss S, Devriendt K, Naymik M, Jepsen W, Siniard AL, Szelinger S, Parker ME, Richholt R, Izatt T, LaFleur M, Terraf P, Llaci L, De Both M, Piras IS, Rangasamy S, Schrauwen I, Craig DW, Huentelman M, Narayanan V. Balak C, et al. Among authors: huentelman m. Am J Med Genet A. 2018 Jul;176(7):1549-1558. doi: 10.1002/ajmg.a.38712. Am J Med Genet A. 2018. PMID: 30160831
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Balak C, Benard M, Schaefer E, Iqbal S, Ramsey K, Ernoult-Lange M, Mattioli F, Llaci L, Geoffroy V, Courel M, Naymik M, Bachman KK, Pfundt R, Rump P, Ter Beest J, Wentzensen IM, Monaghan KG, McWalter K, Richholt R, Le Béchec A, Jepsen W, De Both M, Belnap N, Boland A, Piras IS, Deleuze JF, Szelinger S, Dollfus H, Chelly J, Muller J, Campbell A, Lal D, Rangasamy S, Mandel JL, Narayanan V, Huentelman M, Weil D, Piton A. Balak C, et al. Among authors: huentelman m. Am J Hum Genet. 2019 Sep 5;105(3):509-525. doi: 10.1016/j.ajhg.2019.07.010. Epub 2019 Aug 15. Am J Hum Genet. 2019. PMID: 31422817 Free PMC article.
Feasibility of implementing molecular-guided therapy for the treatment of patients with relapsed or refractory neuroblastoma.
Saulnier Sholler GL, Bond JP, Bergendahl G, Dutta A, Dragon J, Neville K, Ferguson W, Roberts W, Eslin D, Kraveka J, Kaplan J, Mitchell D, Parikh N, Merchant M, Ashikaga T, Hanna G, Lescault PJ, Siniard A, Corneveaux J, Huentelman M, Trent J. Saulnier Sholler GL, et al. Among authors: huentelman m. Cancer Med. 2015 Jun;4(6):871-86. doi: 10.1002/cam4.436. Epub 2015 Feb 26. Cancer Med. 2015. PMID: 25720842 Free PMC article.
Conservation of Distinct Genetically-Mediated Human Cortical Pattern.
Peng Q, Schork A, Bartsch H, Lo MT, Panizzon MS; Pediatric Imaging, Neurocognition and Genetics Study; Alzheimer’s Disease Neuroimaging Initiative; Westlye LT, Kremen WS, Jernigan TL, Le Hellard S, Steen VM, Espeseth T, Huentelman M, Håberg AK, Agartz I, Djurovic S, Andreassen OA, Dale AM, Schork NJ, Chen CH. Peng Q, et al. Among authors: huentelman m. PLoS Genet. 2016 Jul 26;12(7):e1006143. doi: 10.1371/journal.pgen.1006143. eCollection 2016 Jul. PLoS Genet. 2016. PMID: 27459196 Free PMC article.
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
De La Vega FM, Chowdhury S, Moore B, Frise E, McCarthy J, Hernandez EJ, Wong T, James K, Guidugli L, Agrawal PB, Genetti CA, Brownstein CA, Beggs AH, Löscher BS, Franke A, Boone B, Levy SE, Õunap K, Pajusalu S, Huentelman M, Ramsey K, Naymik M, Narayanan V, Veeraraghavan N, Billings P, Reese MG, Yandell M, Kingsmore SF. De La Vega FM, et al. Among authors: huentelman m. Genome Med. 2021 Oct 14;13(1):153. doi: 10.1186/s13073-021-00965-0. Genome Med. 2021. PMID: 34645491 Free PMC article.
Development of a mobile low-field MRI scanner.
Deoni SCL, Medeiros P, Deoni AT, Burton P, Beauchemin J, D'Sa V, Boskamp E, By S, McNulty C, Mileski W, Welch BE, Huentelman M. Deoni SCL, et al. Among authors: huentelman m. Sci Rep. 2022 Apr 5;12(1):5690. doi: 10.1038/s41598-022-09760-2. Sci Rep. 2022. PMID: 35383255 Free PMC article.
305 results