Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 37

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.

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
5.

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
6.

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
7.

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.

8.

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.

9.

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.

10.

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.

11.

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.

12.

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.

13.

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.

14.

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.

15.

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.

16.

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.

17.

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
18.

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.

19.

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.

20.

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.

21.

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.

22.

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.

23.

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.

24.

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.

25.

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.

26.

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
27.

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.

28.

KLHDC8B in Hodgkin lymphoma and possibly twinning.

Timms AE, Horwitz MS.

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

29.

Prospective meta-analysis of interleukin 1 gene complex polymorphisms confirms associations with ankylosing spondylitis.

Sims AM, Timms AE, Bruges-Armas J, Burgos-Vargas R, Chou CT, Doan T, Dowling A, Fialho RN, Gergely P, Gladman DD, Inman R, Kauppi M, Kaarela K, Laiho K, Maksymowych W, Pointon JJ, Rahman P, Reveille JD, Sorrentino R, Tuomilehto J, Vargas-Alarcon G, Wordsworth BP, Xu H, Brown MA; International Genetics of Ankylosing Spondylitis.

Ann Rheum Dis. 2008 Sep;67(9):1305-9. Epub 2007 Dec 6.

PMID:
18063673
30.

Combined analysis of three whole genome linkage scans for Ankylosing Spondylitis.

Carter KW, Pluzhnikov A, Timms AE, Miceli-Richard C, Bourgain C, Wordsworth BP, Jean-Pierre H, Cox NJ, Palmer LJ, Breban M, Reveille JD, Brown MA.

Rheumatology (Oxford). 2007 May;46(5):763-71. Epub 2007 Jan 27.

PMID:
17259653
31.

Replication of association of IL1 gene complex members with ankylosing spondylitis in Taiwanese Chinese.

Chou CT, Timms AE, Wei JC, Tsai WC, Wordsworth BP, Brown MA.

Ann Rheum Dis. 2006 Aug;65(8):1106-9. Epub 2005 Dec 16.

32.

The interleukin 1 gene cluster contains a major susceptibility locus for ankylosing spondylitis.

Timms AE, Crane AM, Sims AM, Cordell HJ, Bradbury LA, Abbott A, Coyne MR, Beynon O, Herzberg I, Duff GW, Calin A, Cardon LR, Wordsworth BP, Brown MA.

Am J Hum Genet. 2004 Oct;75(4):587-95. Epub 2004 Aug 12.

33.

Dissection of class III major histocompatibility complex haplotypes associated with rheumatoid arthritis.

Newton JL, Harney SM, Timms AE, Sims AM, Rockett K, Darke C, Wordsworth BP, Kwiatkowski D, Brown MA.

Arthritis Rheum. 2004 Jul;50(7):2122-9.

34.

Investigation of the role of ANKH in ankylosing spondylitis.

Timms AE, Zhang Y, Bradbury L, Wordsworth BP, Brown MA.

Arthritis Rheum. 2003 Oct;48(10):2898-902.

35.

Genetic testing for haemochromatosis in patients with chondrocalcinosis.

Timms AE, Sathananthan R, Bradbury L, Athanasou NA, Wordsworth BP, Brown MA.

Ann Rheum Dis. 2002 Aug;61(8):745-7. Erratum in: Ann Rheum Dis. 2003 Feb;62(2):192..

36.

Genetic studies of disorders of calcium crystal deposition.

Timms AE, Zhang Y, Russell RG, Brown MA.

Rheumatology (Oxford). 2002 Jul;41(7):725-9. Review. No abstract available.

PMID:
12096219
37.

A search for type 1 diabetes susceptibility genes in families from the United Kingdom.

Mein CA, Esposito L, Dunn MG, Johnson GC, Timms AE, Goy JV, Smith AN, Sebag-Montefiore L, Merriman ME, Wilson AJ, Pritchard LE, Cucca F, Barnett AH, Bain SC, Todd JA.

Nat Genet. 1998 Jul;19(3):297-300.

PMID:
9662409

Supplemental Content

Loading ...
Support Center