Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 94


Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.

Taylor J, Craft J, Blair E, Wordsworth S, Beeson D, Chandratre S, Cossins J, Lester T, Németh AH, Ormondroyd E, Patel SY, Pagnamenta AT, Taylor JC, Thomson KL, Watkins H, Wilkie AOM, Knight JC.

Genome Med. 2019 Jul 25;11(1):46. doi: 10.1186/s13073-019-0651-9.


Care-paradigm shift promoting smoking cessation treatment among cancer center patients via a low-burden strategy, Electronic Health Record-Enabled Evidence-Based Smoking Cessation Treatment.

Ramsey AT, Chiu A, Baker T, Smock N, Chen J, Lester T, Jorenby DE, Colditz GA, Bierut LJ, Chen LS.

Transl Behav Med. 2019 Jul 17. pii: ibz107. doi: 10.1093/tbm/ibz107. [Epub ahead of print]


ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

Glass GE, O'Hara J, Canham N, Cilliers D, Dunaway D, Fenwick AL, Jeelani NO, Johnson D, Lester T, Lord H, Morton JEV, Nishikawa H, Noons P, Schwiebert K, Shipster C, Taylor-Beadling A, Twigg SRF, Vasudevan P, Wall SA, Wilkie AOM, Wilson LC.

Am J Med Genet A. 2019 Apr;179(4):615-627. doi: 10.1002/ajmg.a.61073. Epub 2019 Feb 13.


Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.

Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium.

Lancet. 2019 Feb 23;393(10173):747-757. doi: 10.1016/S0140-6736(18)31940-8. Epub 2019 Jan 31.


A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.

Al-Yassin A, Calder AD, Harrison M, Lester T, Lord H, Oldridge M, Watkins S, Keen R, Wakeling EL.

Eur J Hum Genet. 2018 Sep;26(9):1288-1293. doi: 10.1038/s41431-018-0166-7. Epub 2018 Jun 11.


2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family.

Wafik M, Taylor J, Lester T, Gibbons RJ, Shears DJ.

Eur J Med Genet. 2018 May;61(5):273-279. doi: 10.1016/j.ejmg.2018.01.002. Epub 2018 Jan 4.


Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.

Kim S, Twigg SRF, Scanlon VA, Chandra A, Hansen TJ, Alsubait A, Fenwick AL, McGowan SJ, Lord H, Lester T, Sweeney E, Weber A, Cox H, Wilkie AOM, Golden A, Corsi AK.

Hum Mol Genet. 2017 Jun 1;26(11):2118-2132. doi: 10.1093/hmg/ddx107.


Intracerebroventricular Delivery as a Safe, Long-Term Route of Drug Administration.

Cohen-Pfeffer JL, Gururangan S, Lester T, Lim DA, Shaywitz AJ, Westphal M, Slavc I.

Pediatr Neurol. 2017 Feb;67:23-35. doi: 10.1016/j.pediatrneurol.2016.10.022. Epub 2016 Nov 10. Review.


Diagnostic value of exome and whole genome sequencing in craniosynostosis.

Miller KA, Twigg SR, McGowan SJ, Phipps JM, Fenwick AL, Johnson D, Wall SA, Noons P, Rees KE, Tidey EA, Craft J, Taylor J, Taylor JC, Goos JA, Swagemakers SM, Mathijssen IM, van der Spek PJ, Lord H, Lester T, Abid N, Cilliers D, Hurst JA, Morton JE, Sweeney E, Weber A, Wilson LC, Wilkie AO.

J Med Genet. 2017 Apr;54(4):260-268. doi: 10.1136/jmedgenet-2016-104215. Epub 2016 Nov 24.


Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.

Balasubramanian M, Lord H, Levesque S, Guturu H, Thuriot F, Sillon G, Wenger AM, Sureka DL, Lester T, Johnson DS, Bowen J, Calhoun AR, Viskochil DH; DDD Study, Bejerano G, Bernstein JA, Chitayat D.

J Med Genet. 2017 Mar;54(3):157-165. doi: 10.1136/jmedgenet-2016-104143. Epub 2016 Oct 13.


Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings.

Trück J, Kelly DF, Taylor JM, Kienzler AK, Lester T, Seller A, Pollard AJ, Patel SY.

J Allergy Clin Immunol. 2016 Dec;138(6):1722-1725.e6. doi: 10.1016/j.jaci.2016.04.059. Epub 2016 Jul 14. No abstract available.


Estimating the Size and Impact of the Ecological Restoration Economy.

BenDor T, Lester TW, Livengood A, Davis A, Yonavjak L.

PLoS One. 2015 Jun 17;10(6):e0128339. doi: 10.1371/journal.pone.0128339. eCollection 2015.


Evidence for ubiquitin-regulated nuclear and subnuclear trafficking among Paramyxovirinae matrix proteins.

Pentecost M, Vashisht AA, Lester T, Voros T, Beaty SM, Park A, Wang YE, Yun TE, Freiberg AN, Wohlschlegel JA, Lee B.

PLoS Pathog. 2015 Mar 17;11(3):e1004739. doi: 10.1371/journal.ppat.1004739. eCollection 2015 Mar.


Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.

Fenwick AL, Goos JA, Rankin J, Lord H, Lester T, Hoogeboom AJ, van den Ouweland AM, Wall SA, Mathijssen IM, Wilkie AO.

BMC Med Genet. 2014 Aug 31;15:95. doi: 10.1186/s12881-014-0095-4.


Stoichiometry of the calcineurin regulatory domain-calmodulin complex.

Dunlap TB, Guo HF, Cook EC, Holbrook E, Rumi-Masante J, Lester TE, Colbert CL, Vander Kooi CW, Creamer TP.

Biochemistry. 2014 Sep 16;53(36):5779-90. doi: 10.1021/bi5004734. Epub 2014 Aug 29.


The Positive Impact of Integrative Medicine in the Treatment of Recalcitrant Chronic daily Headache: A Series of Case Reports.

Amoils S, Amoils S, Lester T, Woolford L, Gallagher L.

Glob Adv Health Med. 2014 Jul;3(4):45-54. doi: 10.7453/gahmj.2014.002.


Considerations for flipping the classroom in medical education.

Hurtubise L, Lester TK, Okada S.

Acad Med. 2014 May;89(5):696-7. doi: 10.1097/ACM.0000000000000209. No abstract available.


The distal helix in the regulatory domain of calcineurin is important for domain stability and enzyme function.

Dunlap TB, Cook EC, Rumi-Masante J, Arvin HG, Lester TE, Creamer TP.

Biochemistry. 2013 Dec 3;52(48):8643-51. doi: 10.1021/bi400483a. Epub 2013 Nov 15.


The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself.

Jay S, Wiberg A, Swan M, Lester T, Williams LJ, Taylor IB, Johnson D, Wilkie AO.

Am J Med Genet A. 2013 May;161A(5):1158-63. doi: 10.1002/ajmg.a.35842. Epub 2013 Mar 26.


Mannose 6-phosphate conjugation is not sufficient to allow induction of immune tolerance to phenylalanine ammonia-lyase in dogs.

Vera M, Lester T, Zhao B, Tiger P, Clarke S, Tippin BL, Passage MB, Le SQ, Femenia J, Lemontt JF, Kakkis ED, Dickson PI.

JIMD Rep. 2013;8:63-72. doi: 10.1007/8904_2012_162. Epub 2012 Jul 6.


Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.

Twigg SR, Vorgia E, McGowan SJ, Peraki I, Fenwick AL, Sharma VP, Allegra M, Zaragkoulias A, Sadighi Akha E, Knight SJ, Lord H, Lester T, Izatt L, Lampe AK, Mohammed SN, Stewart FJ, Verloes A, Wilson LC, Healy C, Sharpe PT, Hammond P, Hughes J, Taylor S, Johnson D, Wall SA, Mavrothalassitis G, Wilkie AO.

Nat Genet. 2013 Mar;45(3):308-13. doi: 10.1038/ng.2539. Epub 2013 Jan 27.


Pure de novo partial trisomy 6p in a girl with craniosynostosis.

Varvagiannis K, Stefanidou A, Gyftodimou Y, Lord H, Williams L, Sarri C, Pandelia E, Bazopoulou-Kyrkanidou E, Noakes C, Lester T, Wilkie AO, Petersen MB.

Am J Med Genet A. 2013 Feb;161A(2):343-51. doi: 10.1002/ajmg.a.35727. Epub 2013 Jan 10.


Segmental paternal uniparental disomy of chromosome 14 in a 4-year-old boy.

Harrison V, Hurst J, Lloyd-Jani A, Lester T, Lever M, Man S, O'Rourke A, Robinson D, Tabiner M, Williams R, Kini U.

Clin Dysmorphol. 2012 Oct;21(4):208-11. doi: 10.1097/MCD.0b013e328356da42. No abstract available.


The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

Cossins J, Liu WW, Belaya K, Maxwell S, Oldridge M, Lester T, Robb S, Beeson D.

Hum Mol Genet. 2012 Sep 1;21(17):3765-75. doi: 10.1093/hmg/dds198. Epub 2012 Jun 1.


Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.

Bowman M, Oldridge M, Archer C, O'Rourke A, McParland J, Brekelmans R, Seller A, Lester T.

Eur J Hum Genet. 2012 Jul;20(7):769-77. doi: 10.1038/ejhg.2012.2. Epub 2012 Feb 8.


Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis.

Sharma VP, Wall SA, Lord H, Lester T, Wilkie AO.

Cleft Palate Craniofac J. 2012 May;49(3):373-7. doi: 10.1597/11-185. Epub 2011 Nov 25.


Structural basis for activation of calcineurin by calmodulin.

Rumi-Masante J, Rusinga FI, Lester TE, Dunlap TB, Williams TD, Dunker AK, Weis DD, Creamer TP.

J Mol Biol. 2012 Jan 13;415(2):307-17. doi: 10.1016/j.jmb.2011.11.008. Epub 2011 Nov 12.


Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.

Babbs C, Stewart HS, Williams LJ, Connell L, Goriely A, Twigg SR, Smith K, Lester T, Wilkie AO.

Hum Mutat. 2011 Aug;32(8):930-8. doi: 10.1002/humu.21521. Epub 2011 Jul 12.


Optimization of culture conditions for in vitro fertilization and reproduction of Microphallus turgidus (Trematoda: Microphallidae).

Pung OJ, Lester T Jr, Burger AR, Alyanak E, O'Leary PA.

J Parasitol. 2011 Feb;97(1):1-7. doi: 10.1645/GE-2624.1. Epub 2010 Sep 23.


Metaplastic sarcomatoid carcinoma of the breast appears more aggressive than other triple receptor-negative breast cancers.

Lester TR, Hunt KK, Nayeemuddin KM, Bassett RL Jr, Gonzalez-Angulo AM, Feig BW, Huo L, Rourke LL, Davis WG, Valero V, Gilcrease MZ.

Breast Cancer Res Treat. 2012 Jan;131(1):41-8. doi: 10.1007/s10549-011-1393-6. Epub 2011 Feb 18.


Polymorphous lymphoproliferative disorder with Hodgkin-like features in common γ-chain-deficient severe combined immunodeficiency.

Slatter MA, Angus B, Windebank K, Taylor A, Meaney C, Lester T, Norbury G, Hambleton S, Abinun M, Flood TJ, Cant AJ, Gennery AR.

J Allergy Clin Immunol. 2011 Feb;127(2):533-5. doi: 10.1016/j.jaci.2010.09.036. Epub 2010 Nov 20. No abstract available.


An analysis of the effects of Mn2+ on oxidative phosphorylation in liver, brain, and heart mitochondria using state 3 oxidation rate assays.

Gunter TE, Gerstner B, Lester T, Wojtovich AP, Malecki J, Swarts SG, Brookes PS, Gavin CE, Gunter KK.

Toxicol Appl Pharmacol. 2010 Nov 15;249(1):65-75. doi: 10.1016/j.taap.2010.08.018. Epub 2010 Aug 26.


Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

Wilkie AO, Byren JC, Hurst JA, Jayamohan J, Johnson D, Knight SJ, Lester T, Richards PG, Twigg SR, Wall SA.

Pediatrics. 2010 Aug;126(2):e391-400. doi: 10.1542/peds.2009-3491. Epub 2010 Jul 19.


Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.

Goriely A, Lord H, Lim J, Johnson D, Lester T, Firth HV, Wilkie AO.

Am J Med Genet A. 2010 Aug;152A(8):2067-73. doi: 10.1002/ajmg.a.33513.


An improved real-time polymerase chain reaction for the simultaneous detection of all serotypes of Epizootic hemorrhagic disease virus.

Clavijo A, Sun F, Lester T, Jasperson DC, Wilson WC.

J Vet Diagn Invest. 2010 Jul;22(4):588-93.


Pleomorphic ductal carcinoma of the breast: predictors of decreased overall survival.

Nguyen CV, Falcón-Escobedo R, Hunt KK, Nayeemuddin KM, Lester TR, Harrell RK, Bassett RL Jr, Gilcrease MZ.

Am J Surg Pathol. 2010 Apr;34(4):486-93. doi: 10.1097/PAS.0b013e3181ce97bf.


Continuous infusion of enzyme replacement therapy is inferior to weekly infusions in MPS I dogs.

Passage MB, Krieger AW, Peinovich MC, Lester T, Le SQ, Dickson PI, Kakkis ED.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S253-8. doi: 10.1007/s10545-009-1198-5. Epub 2009 Jun 28.


Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.

Woods RH, Ul-Haq E, Wilkie AO, Jayamohan J, Richards PG, Johnson D, Lester T, Wall SA.

Plast Reconstr Surg. 2009 Jun;123(6):1801-10. doi: 10.1097/PRS.0b013e3181a3f391. Review.


Cyclophilin D interacts with Bcl2 and exerts an anti-apoptotic effect.

Eliseev RA, Malecki J, Lester T, Zhang Y, Humphrey J, Gunter TE.

J Biol Chem. 2009 Apr 10;284(15):9692-9. doi: 10.1074/jbc.M808750200. Epub 2009 Feb 19.


Influence of toxic endophyte-infected fescue on sperm characteristics and endocrine factors of yearling Brahman-influenced bulls.

Looper ML, Rorie RW, Person CN, Lester TD, Hallford DM, Aiken GE, Roberts CA, Rottinghaus GE, Rosenkrans CF Jr.

J Anim Sci. 2009 Mar;87(3):1184-91. doi: 10.2527/jas.2008-1258. Epub 2008 Nov 7.


Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis I.

Dickson P, Peinovich M, McEntee M, Lester T, Le S, Krieger A, Manuel H, Jabagat C, Passage M, Kakkis ED.

J Clin Invest. 2008 Aug;118(8):2868-76. doi: 10.1172/JCI34676.


Malignant pleural mesothelioma with osseous metastases and pathologic fracture of femoral neck.

Lester T, Xu H.

Appl Immunohistochem Mol Morphol. 2008 Oct;16(5):507-9. doi: 10.1097/PAI.0b013e31815e927e.


Conformational properties of a peptide model for unfolded alpha-helices.

Firestine AM, Chellgren VM, Rucker SJ, Lester TE, Creamer TP.

Biochemistry. 2008 Mar 11;47(10):3216-24. doi: 10.1021/bi702474k. Epub 2008 Feb 12.


Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Wilkie AO, Bochukova EG, Hansen RM, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L, Venâncio M, Hurst JA, O'rourke AW, Williams LJ, Seller A, Lester T.

Am J Med Genet A. 2007 Aug 15;143A(16):1941-9. Review.


Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Wilkie AO, Bochukova EG, Hansen RM, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L, Venâncio M, Hurst JA, O'Rourke AW, Williams LJ, Seller A, Lester T.

Am J Med Genet A. 2006 Dec 1;140(23):2631-9. Review.


Successful induction of immune tolerance to enzyme replacement therapy in canine mucopolysaccharidosis I.

Kakkis E, Lester T, Yang R, Tanaka C, Anand V, Lemontt J, Peinovich M, Passage M.

Proc Natl Acad Sci U S A. 2004 Jan 20;101(3):829-34. Epub 2004 Jan 8.


Immunological and genetic analysis of 65 patients with a clinical suspicion of X linked hyper-IgM.

Gilmour KC, Walshe D, Heath S, Monaghan G, Loughlin S, Lester T, Norbury G, Cale CM.

Mol Pathol. 2003 Oct;56(5):256-62.


Application of electronic estrus detection technologies to reproductive management of cattle.

Rorie RW, Bilby TR, Lester TD.

Theriogenology. 2002 Jan 1;57(1):137-48. Review.


Supplemental Content

Loading ...
Support Center