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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.
MECP2 impairs neuronal structure by regulating KIBRA.
Williams AA, White R, Siniard A, Corneveaux J, Huentelman M, Duch C. Williams AA, et al. Among authors: huentelman m. Neurobiol Dis. 2016 Jul;91:284-91. doi: 10.1016/j.nbd.2016.03.019. Epub 2016 Mar 22. Neurobiol Dis. 2016. PMID: 27015692 Free PMC article.
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.
Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias.
Beecham GW, Hamilton K, Naj AC, Martin ER, Huentelman M, Myers AJ, Corneveaux JJ, Hardy J, Vonsattel JP, Younkin SG, Bennett DA, De Jager PL, Larson EB, Crane PK, Kamboh MI, Kofler JK, Mash DC, Duque L, Gilbert JR, Gwirtsman H, Buxbaum JD, Kramer P, Dickson DW, Farrer LA, Frosch MP, Ghetti B, Haines JL, Hyman BT, Kukull WA, Mayeux RP, Pericak-Vance MA, Schneider JA, Trojanowski JQ, Reiman EM; Alzheimer's Disease Genetics Consortium (ADGC); Schellenberg GD, Montine TJ. Beecham GW, et al. Among authors: huentelman m. PLoS Genet. 2014 Sep 4;10(9):e1004606. doi: 10.1371/journal.pgen.1004606. eCollection 2014 Sep. PLoS Genet. 2014. PMID: 25188341 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.
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.
MET receptor tyrosine kinase as an autism genetic risk factor.
Peng Y, Huentelman M, Smith C, Qiu S. Peng Y, et al. Among authors: huentelman m. Int Rev Neurobiol. 2013;113:135-65. doi: 10.1016/B978-0-12-418700-9.00005-8. Int Rev Neurobiol. 2013. PMID: 24290385 Free PMC article. Review.
305 results