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Items: 1 to 50 of 117

1.

Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum.

Haldipur P, Aldinger KA, Bernardo S, Deng M, Timms AE, Overman LM, Winter C, Lisgo SN, Razavi F, Silvestri E, Manganaro L, Adle-Biassette H, Guimiot F, Russo R, Kidron D, Hof PR, Gerrelli D, Lindsay SJ, Dobyns WB, Glass IA, Alexandre P, Millen KJ.

Science. 2019 Oct 25;366(6464):454-460. doi: 10.1126/science.aax7526. Epub 2019 Oct 17.

PMID:
31624095
2.

Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations.

Zenner K, Cheng CV, Jensen DM, Timms AE, Shivaram G, Bly R, Ganti S, Whitlock KB, Dobyns WB, Perkins J, Bennett JT.

JCI Insight. 2019 Nov 1;4(21). pii: 129884. doi: 10.1172/jci.insight.129884.

3.

Redefining the Etiologic Landscape of Cerebellar Malformations.

Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB.

Am J Hum Genet. 2019 Sep 5;105(3):606-615. doi: 10.1016/j.ajhg.2019.07.019. Epub 2019 Aug 29.

PMID:
31474318
4.

Femoral lengthening using the Precice intramedullary limb-lengthening system: outcome comparison following antegrade and retrograde nails.

Calder PR, McKay JE, Timms AJ, Roskrow T, Fugazzotto S, Edel P, Goodier WD.

Bone Joint J. 2019 Sep;101-B(9):1168-1176. doi: 10.1302/0301-620X.101B9.BJJ-2018-1271.R1.

PMID:
31474141
5.

Differential requirements of tubulin genes in mammalian forebrain development.

Bittermann E, Abdelhamed Z, Liegel RP, Menke C, Timms A, Beier DR, Stottmann RW.

PLoS Genet. 2019 Aug 6;15(8):e1008243. doi: 10.1371/journal.pgen.1008243. eCollection 2019 Aug.

6.

The Effect of Mouse Strain, Sex, and Carcinogen Dose on Toxicity and the Development of Lung Dysplasia and Squamous Cell Carcinomas in Mice.

Riolobos L, Gad EA, Treuting PM, Timms AE, Hershberg EA, Corulli LR, Rodmaker E, Disis ML.

Cancer Prev Res (Phila). 2019 Aug;12(8):507-516. doi: 10.1158/1940-6207.CAPR-18-0442. Epub 2019 May 17.

PMID:
31101634
7.

Transcriptome profiling reveals activation of inflammation and apoptosis in the neonatal striatum after deep hypothermic circulatory arrest.

Tu LN, Timms AE, Kibiryeva N, Bittel D, Pastuszko A, Nigam V, Pastuszko P.

J Thorac Cardiovasc Surg. 2019 Sep;158(3):882-890.e4. doi: 10.1016/j.jtcvs.2019.02.091. Epub 2019 Mar 6.

PMID:
31005300
8.

Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms. Am J Med Genet A. 2018 Feb;176(2):290-300.

Clarke CM, Fok VT, Gustafson JA, Smyth MD, Timms AE, Frazar CD, Smith JD, Birgfeld CB, Lee A, Ellenbogen RG, Gruss JS, Hopper RA, Cunningham ML.

Am J Med Genet A. 2018 Nov;176(11):2522. doi: 10.1002/ajmg.a.38846. Epub 2018 Sep 20. No abstract available.

PMID:
30537273
9.

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.

Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, Szczałuba K, Kobori J, Hanson-Kahn A, Bernstein JA, Carr L, D'Arco F, Miyana K, Okazaki T, Saito Y, Sasaki M, Das S, Wheeler MM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Center for Mendelian Genomics at the Broad Institute of MIT and Harvard, Engle EC, Verheijen FW, Doherty D, Mancini GMS.

Am J Hum Genet. 2018 Dec 6;103(6):1009-1021. doi: 10.1016/j.ajhg.2018.10.019. Epub 2018 Nov 21.

10.

Alcohol-related harm: developing a drug and alcohol liaison team.

Musgrave C, Timms A, Georgiou G, Glover S, Sque M, Black D, Perry I.

Br J Nurs. 2018 Aug 9;27(15):881-885. doi: 10.12968/bjon.2018.27.15.881.

PMID:
30089057
11.

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS; University of Washington Center for Mendelian Genomics, Gleeson JG, Rump A, Conti V, Parrini E, Ross ME, Ledbetter DH, Guerrini R, Dobyns WB.

Genet Med. 2018 Nov;20(11):1354-1364. doi: 10.1038/gim.2018.8. Epub 2018 Apr 19.

12.

Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.

Ruggeri G, Timms AE, Cheng C, Weiss A, Kollros P, Chapman T, Tully H, Mirzaa GM.

Am J Med Genet A. 2018 Mar;176(3):676-681. doi: 10.1002/ajmg.a.38592. Epub 2018 Jan 17.

13.

A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice.

Abdelhamed Z, Vuong SM, Hill L, Shula C, Timms A, Beier D, Campbell K, Mangano FT, Stottmann RW, Goto J.

Development. 2018 Jan 9;145(1). pii: dev154500. doi: 10.1242/dev.154500.

14.

Optimizing Genomic Methods for Mapping and Identification of Candidate Variants in ENU Mutagenesis Screens Using Inbred Mice.

Geister KA, Timms AE, Beier DR.

G3 (Bethesda). 2018 Feb 2;8(2):401-409. doi: 10.1534/g3.117.300292.

15.

Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms.

Clarke CM, Fok VT, Gustafson JA, Smyth MD, Timms AE, Frazar CD, Smith JD, Birgfeld CB, Lee A, Ellenbogen RG, Gruss JS, Hopper RA, Cunningham ML.

Am J Med Genet A. 2018 Feb;176(2):290-300. doi: 10.1002/ajmg.a.38540. Epub 2017 Nov 23. Erratum in: Am J Med Genet A. 2018 Nov;176(11):2522.

16.

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Alcantara D, Timms AE, Gripp K, Baker L, Park K, Collins S, Cheng C, Stewart F, Mehta SG, Saggar A, Sztriha L, Zombor M, Caluseriu O, Mesterman R, Van Allen MI, Jacquinet A, Ygberg S, Bernstein JA, Wenger AM, Guturu H, Bejerano G, Gomez-Ospina N, Lehman A, Alfei E, Pantaleoni C, Conti V, Guerrini R, Moog U, Graham JM Jr, Hevner R, Dobyns WB, O'Driscoll M, Mirzaa GM.

Brain. 2017 Oct 1;140(10):2610-2622. doi: 10.1093/brain/awx203.

17.
18.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, Parikh AS, Bradshaw R, Torti E, Braddock S, Burke L, Ghedia S, Stephan M, Stewart F, Prasad C, Napier M, Saitta S, Straussberg R, Gabbett M, O'Connor BC, Keegan CE, Yin LJ, Lai AHM, Martin N, McKinnon M, Addor MC, Boccuto L, Schwartz CE, Lanoel A, Conway RL, Devriendt K, Tatton-Brown K, Pierpont ME, Painter M, Worgan L, Reggin J, Hennekam R, Tsuchiya K, Pritchard CC, Aracena M, Gripp KW, Cordisco M, Van Esch H, Garavelli L, Curry C, Goriely A, Kayserilli H, Shendure J, Graham J Jr, Guerrini R, Dobyns WB.

JCI Insight. 2016 Jun 16;1(9). pii: 87623. doi: 10.1172/jci.insight.87623.

19.

Improvement of ENU Mutagenesis Efficiency Using Serial Injection and Mismatch Repair Deficiency Mice.

Gallego-Llamas J, Timms AE, Pitstick R, Peters J, Carlson GA, Beier DR.

PLoS One. 2016 Jul 21;11(7):e0159377. doi: 10.1371/journal.pone.0159377. eCollection 2016.

20.

A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

Gripp KW, Aldinger KA, Bennett JT, Baker L, Tusi J, Powell-Hamilton N, Stabley D, Sol-Church K, Timms AE, Dobyns WB.

Am J Med Genet A. 2016 Sep;170(9):2237-47. doi: 10.1002/ajmg.a.37781. Epub 2016 Jun 5.

21.

Mutations in Dnaaf1 and Lrrc48 Cause Hydrocephalus, Laterality Defects, and Sinusitis in Mice.

Ha S, Lindsay AM, Timms AE, Beier DR.

G3 (Bethesda). 2016 Aug 9;6(8):2479-87. doi: 10.1534/g3.116.030791.

22.

Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

Di Donato N, Kuechler A, Vergano S, Heinritz W, Bodurtha J, Merchant SR, Breningstall G, Ladda R, Sell S, Altmüller J, Bögershausen N, Timms AE, Hackmann K, Schrock E, Collins S, Olds C, Rump A, Dobyns WB.

Am J Med Genet A. 2016 Oct;170(10):2644-51. doi: 10.1002/ajmg.a.37771. Epub 2016 May 30.

PMID:
27240540
23.

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

Mirzaa GM, Campbell CD, Solovieff N, Goold C, Jansen LA, Menon S, Timms AE, Conti V, Biag JD, Adams C, Boyle EA, Collins S, Ishak G, Poliachik S, Girisha KM, Yeung KS, Chung BHY, Rahikkala E, Gunter SA, McDaniel SS, Macmurdo CF, Bernstein JA, Martin B, Leary R, Mahan S, Liu S, Weaver M, Doerschner M, Jhangiani S, Muzny DM, Boerwinkle E, Gibbs RA, Lupski JR, Shendure J, Saneto RP, Novotny EJ, Wilson CJ, Sellers WR, Morrissey M, Hevner RF, Ojemann JG, Guerrini R, Murphy LO, Winckler W, Dobyns WB.

JAMA Neurol. 2016 Jul 1;73(7):836-845. doi: 10.1001/jamaneurol.2016.0363.

24.

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

Bennett JT, Tan TY, Alcantara D, Tétrault M, Timms AE, Jensen D, Collins S, Nowaczyk MJM, Lindhurst MJ, Christensen KM, Braddock SR, Brandling-Bennett H, Hennekam RCM, Chung B, Lehman A, Su J, Ng S, Amor DJ; University of Washington Center for Mendelian Genomics; Care4Rare Canada Consortium, Majewski J, Biesecker LG, Boycott KM, Dobyns WB, O'Driscoll M, Moog U, McDonell LM.

Am J Hum Genet. 2016 Mar 3;98(3):579-587. doi: 10.1016/j.ajhg.2016.02.006.

25.

Patterns of healing: a comparison of two proximal tibial osteotomy techniques.

Peek AC, Timms A, Chin KF, Calder P, Goodier D.

Strategies Trauma Limb Reconstr. 2016 Apr;11(1):59-62. doi: 10.1007/s11751-016-0243-9. Epub 2016 Feb 16.

26.

Erratum: Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature.

Gao J, Gentzler RD, Timms AE, Horwitz MS, Frankfurt O, Altman JK, Peterson LC.

J Hematol Oncol. 2015 Dec 29;8:131. doi: 10.1186/s13045-015-0228-z. No abstract available.

27.

Variant mapping and mutation discovery in inbred mice using next-generation sequencing.

Gallego-Llamas J, Timms AE, Geister KA, Lindsay A, Beier DR.

BMC Genomics. 2015 Nov 9;16:913. doi: 10.1186/s12864-015-2173-1.

28.

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

Mirzaa GM, Conti V, Timms AE, Smyser CD, Ahmed S, Carter M, Barnett S, Hufnagel RB, Goldstein A, Narumi-Kishimoto Y, Olds C, Collins S, Johnston K, Deleuze JF, Nitschké P, Friend K, Harris C, Goetsch A, Martin B, Boyle EA, Parrini E, Mei D, Tattini L, Slavotinek A, Blair E, Barnett C, Shendure J, Chelly J, Dobyns WB, Guerrini R.

Lancet Neurol. 2015 Dec;14(12):1182-95. doi: 10.1016/S1474-4422(15)00278-1. Epub 2015 Oct 29.

29.

Osteoblast differentiation profiles define sex specific gene expression patterns in craniosynostosis.

Park SS, Beyer RP, Smyth MD, Clarke CM, Timms AE, Bammler TK, Stamper BD, Mecham BH, Gustafson JA, Cunningham ML.

Bone. 2015 Jul;76:169-76. doi: 10.1016/j.bone.2015.03.001. Epub 2015 Mar 7.

30.

The complete plasmid sequences of Salmonella enterica serovar Typhimurium U288.

Hooton SP, Timms AR, Cummings NJ, Moreton J, Wilson R, Connerton IF.

Plasmid. 2014 Nov;76:32-9. doi: 10.1016/j.plasmid.2014.08.002. Epub 2014 Aug 28.

PMID:
25175817
31.

Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature.

Gao J, Gentzler RD, Timms AE, Horwitz MS, Frankfurt O, Altman JK, Peterson LC.

J Hematol Oncol. 2014 Apr 22;7:36. doi: 10.1186/1756-8722-7-36. Review. Erratum in: J Hematol Oncol. 2015;8:131.

32.

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia.

Shah S, Schrader KA, Waanders E, Timms AE, Vijai J, Miething C, Wechsler J, Yang J, Hayes J, Klein RJ, Zhang J, Wei L, Wu G, Rusch M, Nagahawatte P, Ma J, Chen SC, Song G, Cheng J, Meyers P, Bhojwani D, Jhanwar S, Maslak P, Fleisher M, Littman J, Offit L, Rau-Murthy R, Fleischut MH, Corines M, Murali R, Gao X, Manschreck C, Kitzing T, Murty VV, Raimondi S, Kuiper RP, Simons A, Schiffman JD, Onel K, Plon SE, Wheeler D, Ritter D, Ziegler DS, Tucker K, Sutton R, Chenevix-Trench G, Li J, Huntsman DG, Hansford S, Senz J, Walsh T, Lee M, Hahn CN, Roberts K, King MC, Lo SM, Levine RL, Viale A, Socci ND, Nathanson KL, Scott HS, Daly M, Lipkin SM, Lowe SW, Downing JR, Altshuler D, Sandlund JT, Horwitz MS, Mullighan CG, Offit K.

Nat Genet. 2013 Oct;45(10):1226-1231. doi: 10.1038/ng.2754. Epub 2013 Sep 8.

33.

Complete Genome Sequence of Salmonella enterica Serovar Typhimurium U288.

Hooton SP, Timms AR, Moreton J, Wilson R, Connerton IF.

Genome Announc. 2013 Jul 25;1(4). pii: e00467-13. doi: 10.1128/genomeA.00467-13.

34.

A suggested classification for two groups of Campylobacter myoviruses.

Javed MA, Ackermann HW, Azeredo J, Carvalho CM, Connerton I, Evoy S, Hammerl JA, Hertwig S, Lavigne R, Singh A, Szymanski CM, Timms A, Kropinski AM.

Arch Virol. 2014 Jan;159(1):181-90. doi: 10.1007/s00705-013-1788-2. Epub 2013 Jul 24.

PMID:
23881082
35.

Support for the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families.

Timms AE, Dorschner MO, Wechsler J, Choi KY, Kirkwood R, Girirajan S, Baker C, Eichler EE, Korvatska O, Roche KW, Horwitz MS, Tsuang DW.

JAMA Psychiatry. 2013 Jun;70(6):582-90. doi: 10.1001/jamapsychiatry.2013.1195.

PMID:
23553203
36.

Is rheumatoid factor useful in primary care? A retrospective cross-sectional study.

Miller A, Mahtani KR, Waterfield MA, Timms A, Misbah SA, Luqmani RA.

Clin Rheumatol. 2013 Jul;32(7):1089-93. doi: 10.1007/s10067-013-2236-0. Epub 2013 Mar 21.

PMID:
23515604
37.

Pin site care: guidance and key recommendations.

Timms A, Pugh H.

Nurs Stand. 2012 Sep 5-11;27(1):50-5; quiz 56.

PMID:
23082364
38.

A novel link between Campylobacter jejuni bacteriophage defence, virulence and Guillain-Barré syndrome.

Louwen R, Horst-Kreft D, de Boer AG, van der Graaf L, de Knegt G, Hamersma M, Heikema AP, Timms AR, Jacobs BC, Wagenaar JA, Endtz HP, van der Oost J, Wells JM, Nieuwenhuis EE, van Vliet AH, Willemsen PT, van Baarlen P, van Belkum A.

Eur J Clin Microbiol Infect Dis. 2013 Feb;32(2):207-26. doi: 10.1007/s10096-012-1733-4. Epub 2012 Sep 4.

PMID:
22945471
39.

Limb lengthening for post-traumatic shortening over a pre-implanted femoral locking plate.

Kosuge DD, Pugh H, Timms A, Barry M.

J Orthop Trauma. 2013 Mar;27(3):e57-64. doi: 10.1097/BOT.0b013e3182604558.

PMID:
22648038
40.

Salmonella Typhimurium-specific bacteriophage ΦSH19 and the origins of species specificity in the Vi01-like phage family.

Hooton SP, Timms AR, Rowsell J, Wilson R, Connerton IF.

Virol J. 2011 Nov 2;8:498. doi: 10.1186/1743-422X-8-498.

41.

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.

Hahn CN, Chong CE, Carmichael CL, Wilkins EJ, Brautigan PJ, Li XC, Babic M, Lin M, Carmagnac A, Lee YK, Kok CH, Gagliardi L, Friend KL, Ekert PG, Butcher CM, Brown AL, Lewis ID, To LB, Timms AE, Storek J, Moore S, Altree M, Escher R, Bardy PG, Suthers GK, D'Andrea RJ, Horwitz MS, Scott HS.

Nat Genet. 2011 Sep 4;43(10):1012-7. doi: 10.1038/ng.913.

42.

Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis.

Couto AR, Zhang Y, Timms A, Bruges-Armas J, Sequeiros J, Brown MA.

Rheumatol Int. 2012 Sep;32(9):2745-51. doi: 10.1007/s00296-011-2022-8. Epub 2011 Aug 3.

PMID:
21811784
43.

Campylobacter bacteriophages and bacteriophage therapy.

Connerton PL, Timms AR, Connerton IF.

J Appl Microbiol. 2011 Aug;111(2):255-65. doi: 10.1111/j.1365-2672.2011.05012.x. Epub 2011 Apr 20. Review.

44.

Marginal excision and Ilizarov hemicallotasis for osteofibrous dysplasia of the tibia: a case report.

Kosuge DD, Pugh H, Ramachandran M, Barry M, Timms A.

J Pediatr Orthop B. 2011 Mar;20(2):89-93. doi: 10.1097/BPB.0b013e3283415941.

PMID:
21164362
45.

Does a gating policy for ANCA overlook patients with ANCA associated vasculitis? An audit of 263 patients.

Arnold DF, Timms A, Luqmani R, Misbah SA.

J Clin Pathol. 2010 Aug;63(8):678-80. doi: 10.1136/jcp.2009.072504.

PMID:
20702467
46.

KLHDC8B in Hodgkin lymphoma and possibly twinning.

Timms AE, Horwitz MS.

Commun Integr Biol. 2010 Mar;3(2):154-8.

47.

Evidence for a lineage of virulent bacteriophages that target Campylobacter.

Timms AR, Cambray-Young J, Scott AE, Petty NK, Connerton PL, Clarke L, Seeger K, Quail M, Cummings N, Maskell DJ, Thomson NR, Connerton IF.

BMC Genomics. 2010 Mar 30;11:214. doi: 10.1186/1471-2164-11-214.

48.

"No one has ever asked for it back!" A survey assessing the fate of reusable external fixation equipment in mortuaries.

Timms A, Sorkin T, Pugh H, Barry M, Goodier WD.

Injury. 2010 Feb;41(2):141-3. doi: 10.1016/j.injury.2009.05.029. Epub 2009 Jun 30.

PMID:
19570535
49.

Application of a group II Campylobacter bacteriophage to reduce strains of Campylobacter jejuni and Campylobacter coli colonizing broiler chickens.

El-Shibiny A, Scott A, Timms A, Metawea Y, Connerton P, Connerton I.

J Food Prot. 2009 Apr;72(4):733-40.

PMID:
19435220
50.

Quantitative models of in vitro bacteriophage-host dynamics and their application to phage therapy.

Cairns BJ, Timms AR, Jansen VA, Connerton IF, Payne RJ.

PLoS Pathog. 2009 Jan;5(1):e1000253. doi: 10.1371/journal.ppat.1000253. Epub 2009 Jan 2.

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