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Items: 1 to 50 of 141

1.

TMEM16A chloride channel does not drive mucus production.

Simões FB, Quaresma MC, Clarke LA, Silva IA, Pankonien I, Railean V, Kmit A, Amaral MD.

Life Sci Alliance. 2019 Nov 15;2(6). pii: e201900462. doi: 10.26508/lsa.201900462. Print 2019 Dec.

2.

Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry.

Viskochil D, Clarke LA, Bay L, Keenan H, Muenzer J, Guffon N.

Am J Med Genet A. 2019 Dec;179(12):2425-2432. doi: 10.1002/ajmg.a.61378. Epub 2019 Oct 22.

3.

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, Isidor B, Ong WP, Haniffa M, White SM, Matsuo M, Saito K, Phadke S, Kosho T, Yap P, Goyal M, Clarke LA, Sachdev R, McGillivray G, Leventer RJ, Patel C, Yamagata T, Osaka H, Hisaeda Y, Ohashi H, Shimizu K, Nagasaki K, Hamada J, Dateki S, Sato T, Chinen Y, Awaya T, Kato T, Iwanaga K, Kawai M, Matsuoka T, Shimoji Y, Tan TY, Kapoor S, Gregersen N, Rossi M, Marie-Laure M, McGregor L, Oishi K, Mehta L, Gillies G, Lockhart PJ, Pope K, Shukla A, Girisha KM, Abdel-Salam GMH, Mowat D, Coman D, Kim OH, Cordier MP, Gibson K, Milunsky J, Liebelt J, Cox H, El Chehadeh S, Toutain A, Saida K, Aoi H, Minase G, Tsuchida N, Iwama K, Uchiyama Y, Suzuki T, Hamanaka K, Azuma Y, Fujita A, Imagawa E, Koshimizu E, Takata A, Mitsuhashi S, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N.

J Hum Genet. 2019 Dec;64(12):1173-1186. doi: 10.1038/s10038-019-0667-4. Epub 2019 Sep 17.

PMID:
31530938
4.

Dissecting Cardiac Surgery: A Video-Based Recall Protocol to Elucidate Team Cognitive Processes in the Operating Room.

Dias RD, Zenati MA, Conboy HM, Clarke LA, Osterweil LJ, Avrunin GS, Yule SJ.

Ann Surg. 2019 Jul 24. doi: 10.1097/SLA.0000000000003489. [Epub ahead of print]

PMID:
31348036
5.

Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.

Clarke LA, Giugliani R, Guffon N, Jones SA, Keenan HA, Munoz-Rojas MV, Okuyama T, Viskochil D, Whitley CB, Wijburg FA, Muenzer J.

Clin Genet. 2019 Oct;96(4):281-289. doi: 10.1111/cge.13583. Epub 2019 Jul 2.

6.

Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.

Ramaswami U, Bichet DG, Clarke LA, Dostalova G, Fainboim A, Fellgiebel A, Forcelini CM, An Haack K, Hopkin RJ, Mauer M, Najafian B, Scott CR, Shankar SP, Thurberg BL, Tøndel C, Tylki-Szymanska A, Bénichou B, Wijburg FA.

Mol Genet Metab. 2019 May;127(1):86-94. doi: 10.1016/j.ymgme.2019.03.010. Epub 2019 Apr 3.

7.

Process-Model-Driven Guidance to Reduce Surgical Procedure Errors: An Expert Opinion.

Osterweil LJ, Conboy HM, Clarke LA, Avrunin GS.

Semin Thorac Cardiovasc Surg. 2019 Autumn;31(3):453-457. doi: 10.1053/j.semtcvs.2019.02.030. Epub 2019 Mar 6.

PMID:
30851373
8.

Process Driven Guidance for Complex Surgical Procedures.

Avrunin GS, Christov SC, Clarke LA, Conboy HM, Osterweil LJ, Zenati MA.

AMIA Annu Symp Proc. 2018 Dec 5;2018:175-184. eCollection 2018.

9.

BO-LSTM: classifying relations via long short-term memory networks along biomedical ontologies.

Lamurias A, Sousa D, Clarke LA, Couto FM.

BMC Bioinformatics. 2019 Jan 7;20(1):10. doi: 10.1186/s12859-018-2584-5.

10.

Development of an Interactive Dashboard to Analyze Cognitive Workload of Surgical Teams During Complex Procedural Care.

Dias RD, Conboy HM, Gabany JM, Clarke LA, Osterweil LJ, Avrunin GS, Arney D, Goldman JM, Riccardi G, Yule SJ, Zenati MA.

IEEE Int Interdiscip Conf Cogn Methods Situat Aware Decis Support. 2018 Jun;2018:77-82. doi: 10.1109/COGSIMA.2018.8423995. Epub 2018 Aug 2.

11.

Intelligent Interruption Management System to Enhance Safety and Performance in Complex Surgical and Robotic Procedures.

Dias RD, Conboy HM, Gabany JM, Clarke LA, Osterweil LJ, Arney D, Goldman JM, Riccardi G, Avrunin GS, Yule SJ, Zenati MA.

OR 2.0 Context Aware Oper Theaters Comput Assist Robot Endosc Clin Image Based Proced Skin Image Anal (2018). 2018 Sep;11041:62-68. doi: 10.1007/978-3-030-01201-4_8. Epub 2018 Oct 2.

12.

The effect of premature termination codon mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids: a basis for read-through therapies in cystic fibrosis.

Clarke LA, Awatade NT, Felício VM, Silva IA, Calucho M, Pereira L, Azevedo P, Cavaco J, Barreto C, Bertuzzo C, Gartner S, Beekman J, Amaral MD.

Hum Mutat. 2019 Mar;40(3):326-334. doi: 10.1002/humu.23692. Epub 2018 Dec 10.

PMID:
30488522
13.

Toward Improving Surgical Outcomes by Incorporating Cognitive Load Measurement into Process-Driven Guidance.

Avrunin GS, Clarke LA, Conboy HM, Osterweil LJ, Dias RD, Yule SJ, Goldman JM, Zenati MA.

Softw Eng Healthc Syst SEHS IEEE ACM Int Workshop. 2018 May;2018:2-9. doi: 10.1145/3194696.3194705.

14.

Accuracy of pre-hospital trauma notification calls.

James MK, Clarke LA, Simpson RM, Noto AJ, Sclair JR, Doughlin GK, Lee SW.

Am J Emerg Med. 2019 Apr;37(4):620-626. doi: 10.1016/j.ajem.2018.06.058. Epub 2018 Jun 27.

PMID:
30041910
15.

Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients.

Cox GF, Clarke LA, Giugliani R, McGovern MM.

JIMD Rep. 2018;41:119-129. doi: 10.1007/8904_2018_120. Epub 2018 Jul 12.

16.

Generating a Tolerogenic Cell Therapy Knowledge Graph from Literature.

Lamurias A, Ferreira JD, Clarke LA, Couto FM.

Front Immunol. 2017 Nov 29;8:1656. doi: 10.3389/fimmu.2017.01656. eCollection 2017.

17.

Cognitive Support During High-Consequence Episodes of Care in Cardiovascular Surgery.

Conboy HM, Avrunin GS, Clarke LA, Osterweil LJ, Christov SC, Goldman JM, Yule SJ, Zenati MA.

IEEE Int Interdiscip Conf Cogn Methods Situat Aware Decis Support. 2017 Mar;2017. doi: 10.1109/COGSIMA.2017.7929610. Epub 2017 May 18.

18.

Extracting microRNA-gene relations from biomedical literature using distant supervision.

Lamurias A, Clarke LA, Couto FM.

PLoS One. 2017 Mar 6;12(3):e0171929. doi: 10.1371/journal.pone.0171929. eCollection 2017.

19.

The Grad Cohort Workshop: Evaluating an Intervention to Retain Women Graduate Students in Computing.

Stout JG, Tamer B, Wright HM, Clarke LA, Dwarkadas S, Howard AM.

Front Psychol. 2017 Jan 10;7:2071. doi: 10.3389/fpsyg.2016.02071. eCollection 2016.

20.

Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management.

Clarke LA, Atherton AM, Burton BK, Day-Salvatore DL, Kaplan P, Leslie ND, Scott CR, Stockton DW, Thomas JA, Muenzer J.

J Pediatr. 2017 Mar;182:363-370. doi: 10.1016/j.jpeds.2016.11.036. Epub 2016 Dec 7. Review. No abstract available.

21.

Assessing the effectiveness of five process elicitation methods: A case study of chemotherapy treatment plan review.

Christov SC, Marquard JL, Avrunin GS, Clarke LA.

Appl Ergon. 2017 Mar;59(Pt A):364-376. doi: 10.1016/j.apergo.2016.08.032. Epub 2016 Oct 11.

PMID:
27890149
22.

PCP-B class pollen coat proteins are key regulators of the hydration checkpoint in Arabidopsis thaliana pollen-stigma interactions.

Wang L, Clarke LA, Eason RJ, Parker CC, Qi B, Scott RJ, Doughty J.

New Phytol. 2017 Jan;213(2):764-777. doi: 10.1111/nph.14162. Epub 2016 Sep 6.

23.

Exploring the Scope of Asymmetric Synthesis of β-Hydroxy-γ-lactams via Noyori-type Reductions.

Lynch D, Deasy RE, Clarke LA, Slattery CN, Khandavilli UB, Lawrence SE, Maguire AR, Magnus NA, Moynihan HA.

Org Lett. 2016 Oct 7;18(19):4978-4981. Epub 2016 Sep 22.

PMID:
27656907
24.

Functional coherence metrics in protein families.

Bastos HP, Sousa L, Clarke LA, Couto FM.

J Biomed Semantics. 2016 Jun 23;7(1):41. doi: 10.1186/s13326-016-0076-y.

25.

Is it Fabry disease?

Schiffmann R, Fuller M, Clarke LA, Aerts JM.

Genet Med. 2016 Dec;18(12):1181-1185. doi: 10.1038/gim.2016.55. Epub 2016 May 19. Review.

PMID:
27195818
26.

Human Epididymis Protein 4: A Novel Serum Inflammatory Biomarker in Cystic Fibrosis.

Nagy B Jr, Nagy B, Fila L, Clarke LA, Gönczy F, Bede O, Nagy D, Újhelyi R, Szabó Á, Anghelyi A, Major M, Bene Z, Fejes Z, Antal-Szalmás P, Bhattoa HP, Balla G, Kappelmayer J, Amaral MD, Macek M Jr, Balogh I.

Chest. 2016 Sep;150(3):661-72. doi: 10.1016/j.chest.2016.04.006. Epub 2016 Apr 19.

PMID:
27105680
27.

12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment.

Gabrielli O, Clarke LA, Ficcadenti A, Santoro L, Zampini L, Volpi N, Coppa GV.

BMC Med Genet. 2016 Mar 10;17:19. doi: 10.1186/s12881-016-0284-4.

28.

Implementing evidence-driven individualized treatment plans within Morquio A Syndrome.

Clarke LA, Harmatz P, Fong EW.

Mol Genet Metab. 2016 Feb;117(2):217. doi: 10.1016/j.ymgme.2015.12.157. Epub 2015 Dec 29.

PMID:
26877092
29.

Mucopolysaccharidosis Type I.

Clarke LA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2002 Oct 31 [updated 2016 Feb 11].

30.

Correction of a Cystic Fibrosis Splicing Mutation by Antisense Oligonucleotides.

Igreja S, Clarke LA, Botelho HM, Marques L, Amaral MD.

Hum Mutat. 2016 Feb;37(2):209-15. doi: 10.1002/humu.22931. Epub 2015 Dec 2.

PMID:
26553470
31.

Transcriptome meta-analysis reveals common differential and global gene expression profiles in cystic fibrosis and other respiratory disorders and identifies CFTR regulators.

Clarke LA, Botelho HM, Sousa L, Falcao AO, Amaral MD.

Genomics. 2015 Nov;106(5):268-77. doi: 10.1016/j.ygeno.2015.07.005. Epub 2015 Jul 29.

32.

Measurements of Functional Responses in Human Primary Lung Cells as a Basis for Personalized Therapy for Cystic Fibrosis.

Awatade NT, Uliyakina I, Farinha CM, Clarke LA, Mendes K, Solé A, Pastor J, Ramos MM, Amaral MD.

EBioMedicine. 2014 Dec 17;2(2):147-53. doi: 10.1016/j.ebiom.2014.12.005. eCollection 2015.

33.

The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders.

Clarke LA, Hollak CE.

Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):219-35. doi: 10.1016/j.beem.2014.08.010. Epub 2014 Aug 27. Review.

PMID:
25987175
34.

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.

Wijburg FA, Bénichou B, Bichet DG, Clarke LA, Dostalova G, Fainboim A, Fellgiebel A, Forcelini C, An Haack K, Hopkin RJ, Mauer M, Najafian B, Scott CR, Shankar SP, Thurberg BL, Tøndel C, Tylki-Szymańska A, Ramaswami U.

PLoS One. 2015 May 8;10(5):e0124987. doi: 10.1371/journal.pone.0124987. eCollection 2015.

35.

GRYFUN: a web application for GO term annotation visualization and analysis in protein sets.

Bastos HP, Sousa L, Clarke LA, Couto FM.

PLoS One. 2015 Mar 20;10(3):e0119631. doi: 10.1371/journal.pone.0119631. eCollection 2015.

36.

Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations.

Ramalho AS, Clarke LA, Sousa M, Felicio V, Barreto C, Lopes C, Amaral MD.

J Cyst Fibros. 2016 Jan;15(1):21-33. doi: 10.1016/j.jcf.2015.02.002. Epub 2015 Feb 27.

37.

Elevated uptake of plasma macromolecules by regions of arterial wall predisposed to plaque instability in a mouse model.

Mohri Z, Rowland EM, Clarke LA, De Luca A, Peiffer V, Krams R, Sherwin SJ, Weinberg PD.

PLoS One. 2014 Dec 22;9(12):e115728. doi: 10.1371/journal.pone.0115728. eCollection 2014.

38.

Extracellular matrix disruption is an early event in the pathogenesis of skeletal disease in mucopolysaccharidosis I.

Heppner JM, Zaucke F, Clarke LA.

Mol Genet Metab. 2015 Feb;114(2):146-55. doi: 10.1016/j.ymgme.2014.09.012. Epub 2014 Oct 7.

PMID:
25410057
39.

Enantioselective copper catalysed C-H insertion reaction of 2-sulfonyl-2-diazoacetamides to form γ-lactams.

Clarke LA, Ring A, Ford A, Sinha AS, Lawrence SE, Maguire AR.

Org Biomol Chem. 2014 Oct 14;12(38):7612-28. doi: 10.1039/c4ob01430h.

PMID:
25144914
40.

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose.

Lachman RS, Burton BK, Clarke LA, Hoffinger S, Ikegawa S, Jin DK, Kano H, Kim OH, Lampe C, Mendelsohn NJ, Shediac R, Tanpaiboon P, White KK.

Skeletal Radiol. 2014 Mar;43(3):359-69. doi: 10.1007/s00256-013-1797-y. Epub 2014 Jan 4.

41.

Online deviation detection for medical processes.

Christov SC, Avrunin GS, Clarke LA.

AMIA Annu Symp Proc. 2014 Nov 14;2014:395-404. eCollection 2014.

42.

Annotation extension through protein family annotation coherence metrics.

Bastos HP, Clarke LA, Couto FM.

Front Genet. 2013 Oct 11;4:201. doi: 10.3389/fgene.2013.00201. eCollection 2013.

43.

High-content siRNA screen reveals global ENaC regulators and potential cystic fibrosis therapy targets.

Almaça J, Faria D, Sousa M, Uliyakina I, Conrad C, Sirianant L, Clarke LA, Martins JP, Santos M, Heriché JK, Huber W, Schreiber R, Pepperkok R, Kunzelmann K, Amaral MD.

Cell. 2013 Sep 12;154(6):1390-400. doi: 10.1016/j.cell.2013.08.045.

44.

Transgenic mice expressing human glucocerebrosidase variants: utility for the study of Gaucher disease.

Sanders A, Hemmelgarn H, Melrose HL, Hein L, Fuller M, Clarke LA.

Blood Cells Mol Dis. 2013 Aug;51(2):109-15. doi: 10.1016/j.bcmd.2013.03.006. Epub 2013 Apr 30.

PMID:
23642305
45.

Fetal progeria: prenatal sonographic findings in petty syndrome.

Pugash D, Schrader KA, Dunham CP, Popescu OE, Sargent MA, Lehman AM, Yong SL, Clarke LA.

J Ultrasound Med. 2013 May;32(5):881-3. doi: 10.7863/ultra.32.5.881. No abstract available.

PMID:
23620331
46.

Changes in transcriptome of native nasal epithelium expressing F508del-CFTR and intersecting data from comparable studies.

Clarke LA, Sousa L, Barreto C, Amaral MD.

Respir Res. 2013 Mar 28;14:38. doi: 10.1186/1465-9921-14-38.

47.

Epidemiology of uveitis in children over a 10-year period.

Clarke LA, Guex-Crosier Y, Hofer M.

Clin Exp Rheumatol. 2013 Jul-Aug;31(4):633-7. Epub 2013 Feb 22.

PMID:
23432940
48.

Using process elicitation and validation to understand and improve chemotherapy ordering and delivery.

Mertens WC, Christov SC, Avrunin GS, Clarke LA, Osterweil LJ, Cassells LJ, Marquard JL.

Jt Comm J Qual Patient Saf. 2012 Nov;38(11):497-505.

PMID:
23173396
49.

Endothelial microparticle release is stimulated in vitro by purified IgG from patients with the antiphospholipid syndrome.

Pericleous C, Clarke LA, Brogan PA, Latchman DS, Isenberg DA, Ioannou Y, Giles IP, Rahman A.

Thromb Haemost. 2013 Jan;109(1):72-8. doi: 10.1160/TH12-05-0346. Epub 2012 Nov 15.

PMID:
23152159
50.

Production of α-L-iduronidase in maize for the potential treatment of a human lysosomal storage disease.

He X, Haselhorst T, von Itzstein M, Kolarich D, Packer NH, Gloster TM, Vocadlo DJ, Clarke LA, Qian Y, Kermode AR.

Nat Commun. 2012;3:1062. doi: 10.1038/ncomms2070.

PMID:
22990858

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