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Page 1
Complete Genome Sequence of Cluster J Mycobacteriophage Superphikiman.
Pradhan P, Nako S, Tran T, Aluri LS, Anandarajan D, Betini N, Bhatt SD, Chengalvala S, Cox NE, Delvadia BP, Desai AS, Devaney AM, Doyle BK, Edgerton AO, Erlich MC, Fitzpatrick KC, Gajjar EA, Ganguly A, Gill RS, Good PM, Gupta N, Haddad LM, Han EJ, Jain S, Jiang A, Jurgielewicz AD, Kainth DK, Karam JM, Kodavatiganti M, Kriete SJ, MacDonald CE, Maret JP, Mathew AE, Natrajan M, Nishu NM, Patel N, Patel PD, Patel S, Patra K, Rai KK, Sarkar A, Shah P, Tata RK, Tawfik AH, Thuremella BT, Toma J, Veera S, Vemulapalli VK, Vidas TV, Vieira KS, Vijayakumar G, Walor TA, White CR, Wong BM, Zhao SL, Bollivar DW, McDonald MT, Dalia RR, Smith KPW, Little JL, Gurney SMR. Pradhan P, et al. Among authors: mcdonald mt. Genome Announc. 2018 Feb 1;6(5):e01538-17. doi: 10.1128/genomeA.01538-17. Genome Announc. 2018. PMID: 29437101 Free PMC article.
Complete Genome Sequences of 12 B1 Cluster Mycobacteriophages, Gareth, JangoPhett, Kailash, MichaelPhcott, PhenghisKhan, Phleuron, Phergie, PhrankReynolds, PhrodoBaggins, Phunky, Vaticameos, and Virapocalypse.
Apellido KA, Balchander D, Erlich MC, Gocal JK, Gocal WA, Haile S, Kang AK, Koduri S, Natrajan M, Parikh AA, Tata RK, Walor TA, Wong BM, Nako S, Tran T, Islam E, Mammen MP; Drexel University SEA-PHAGES annotators 2016; Drexel University SEA-PHAGES annotators 2017; Drexel University SEA-PHAGES annotators 2018; Ball SL, Bollivar DW, Butela KA, Pope WH, McDonald MT, Tang CA, Dalia RR, Smith KPW, Little JL, Moyer AE, Gurney SMR. Apellido KA, et al. Among authors: mcdonald mt. Microbiol Resour Announc. 2019 Feb 21;8(8):e01387-18. doi: 10.1128/MRA.01387-18. eCollection 2019 Feb. Microbiol Resour Announc. 2019. PMID: 30834367 Free PMC article.
Complete Genome Sequences of Seven EA Cluster Microbacteriophages, Bustleton, MillyPhilly, Riyhil, Phriends, Pherbot, PrincePhergus, and TinSulphur.
Nguyen Quach AM, Varghese AE, Siddiq K, Pappano IG, Thaha A, Marcelis TA, Feruku B, Vindyala A, Mohamed R, Johnson KA, Hakim S, Sekar S, Vinnakota P, Borsha NH, McKenzie R, Ailani SS, Patel S, Beggarly VA; Drexel University SEA-PHAGES annotators 2019; McDonald MT, Dalia RR, Khakhina S, Gurney SMR. Nguyen Quach AM, et al. Among authors: mcdonald mt. Microbiol Resour Announc. 2019 Nov 14;8(46):e01193-19. doi: 10.1128/MRA.01193-19. Microbiol Resour Announc. 2019. PMID: 31727713 Free PMC article.
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, Angireddy R, Wang XM, Weiss E, Mendoza-Londono R, Dupuis L, Damseh N, Velasco D, Valenzuela I, Codina-Solà M, Ziats C, Have J, Clarkson K, Steel D, Kurian M, Barwick K, Carrasco D, Dagli AI, Nowaczyk MJM, Hančárová M, Bendová Š, Prchalova D, Sedláček Z, Baxová A, Nowak CB, Douglas J, Chung WK, Longo N, Platzer K, Klöckner C, Averdunk L, Wieczorek D, Krey I, Zweier C, Reis A, Balci T, Simon M, Kroes HY, Wiesener A, Vasileiou G, Marinakis NM, Veltra D, Sofocleous C, Kosma K, Traeger Synodinos J, Voudris KA, Vuillaume ML, Gueguen P, Derive N, Colin E, Battault C, Au B, Delatycki M, Wallis M, Gallacher L, Majdoub F, Smal N, Weckhuysen S, Schoonjans AS, Kooy RF, Meuwissen M, Cocanougher BT, Taylor K, Pizoli CE, McDonald MT, James P, Roeder ER, Littlejohn R, Borja NA, Thorson W, King K, Stoeva R, Suerink M, Nibbeling E, Baskin S, L E Guyader G, Kaplan J, Muss C, Carere DA, Bhoj EJK, Bryant LM. Layo-Carris DE, et al. Among authors: mcdonald mt. Eur J Hum Genet. 2024 Apr 27. doi: 10.1038/s41431-024-01610-1. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38678163 Free article.
The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt.
Cocanougher BT, Liu SW, Francescatto L, Behura A, Anneling M, Jackson DG, Deak KL, Hornik CD, ElMallah MK, Pizoli CE, Smith EC, Tan KGQ, McDonald MT. Cocanougher BT, et al. Among authors: mcdonald mt. HGG Adv. 2024 Apr 1;5(3):100288. doi: 10.1016/j.xhgg.2024.100288. Online ahead of print. HGG Adv. 2024. PMID: 38566418 Free PMC article.
Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.
Beaman MM, Guidugli L, Hammer M, Barrows C, Gregor A, Lee S, Deak KL, McDonald MT, Jensen C, Zaki MS, Masri AT, Hobbs CA, Gleeson JG, Cohen JL. Beaman MM, et al. Among authors: mcdonald mt. Am J Med Genet A. 2023 Nov;191(11):2757-2767. doi: 10.1002/ajmg.a.63363. Epub 2023 Aug 19. Am J Med Genet A. 2023. PMID: 37596828
Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration.
Khazaei S, Chen CCL, Andrade AF, Kabir N, Azarafshar P, Morcos SM, França JA, Lopes M, Lund PJ, Danieau G, Worme S, Adnani L, Nzirorera N, Chen X, Yogarajah G, Russo C, Zeinieh M, Wong CJ, Bryant L, Hébert S, Tong B, Sihota TS, Faury D, Puligandla E, Jawhar W, Sandy V, Cowan M, Nakada EM, Jerome-Majewska LA, Ellezam B, Gomes CC, Denecke J, Lessel D, McDonald MT, Pizoli CE, Taylor K, Cocanougher BT, Bhoj EJ, Gingras AC, Garcia BA, Lu C, Campos EI, Kleinman CL, Garzia L, Jabado N. Khazaei S, et al. Among authors: mcdonald mt. Cell. 2023 Mar 16;186(6):1162-1178.e20. doi: 10.1016/j.cell.2023.02.023. Cell. 2023. PMID: 36931244 Free PMC article.
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J; Undiagnosed Diseases Network; Genomics England Research Consortium; Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN. Cousin MA, et al. Among authors: mcdonald mt. Nat Genet. 2021 Jul;53(7):1006-1021. doi: 10.1038/s41588-021-00886-z. Epub 2021 Jul 1. Nat Genet. 2021. PMID: 34211179 Free PMC article.
Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans.
Bai R, Cui H, Devaney JM, Allis KM, Balog AM, Liu X, Schnur RE, Shapiro FL, Brautbar A, Estrada-Veras JI, Hochstetler L, McConkie-Rosell A, McDonald MT, Solomon BD, Hofherr S, Richard G, Suchy SF. Bai R, et al. Among authors: mcdonald mt. Genet Med. 2021 Aug;23(8):1514-1521. doi: 10.1038/s41436-021-01166-1. Epub 2021 Apr 12. Genet Med. 2021. PMID: 33846581 Free article.
66 results