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Items: 1 to 50 of 891

1.

Optimization of Cervical and Ocular Vestibular Evoked Myogenic Potential Testing Using an Impulse Hammer in Adults, Adolescents, and Children.

Rodriguez AI, Marler E, Fitzpatrick D, Creutz T, Cannon SA, Thomas MLA, Janky KL.

Otol Neurotol. 2020 Mar 19. doi: 10.1097/MAO.0000000000002632. [Epub ahead of print]

PMID:
32221109
2.

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.

Krab LC, Marcos-Alcalde I, Assaf M, Balasubramanian M, Andersen JB, Bisgaard AM, Fitzpatrick DR, Gudmundsson S, Huisman SA, Kalayci T, Maas SM, Martinez F, McKee S, Menke LA, Mulder PA, Murch OD, Parker M, Pie J, Ramos FJ, Rieubland C, Rosenfeld Mokry JA, Scarano E, Shinawi M, Gómez-Puertas P, Tümer Z, Hennekam RC.

Hum Genet. 2020 Mar 19. doi: 10.1007/s00439-020-02138-2. [Epub ahead of print]

PMID:
32193685
3.

The sound of tablets during coating erosion, disintegration, deaggregation and dissolution.

O'Mahoney N, Keating JJ, McSweeney S, Hill S, Lawrence S, Fitzpatrick D.

Int J Pharm. 2020 Mar 9;580:119216. doi: 10.1016/j.ijpharm.2020.119216. [Epub ahead of print]

PMID:
32165222
4.

Electronic health records in ambulances: the ERA multiple-methods study.

Porter A, Badshah A, Black S, Fitzpatrick D, Harris-Mayes R, Islam S, Jones M, Kingston M, LaFlamme-Williams Y, Mason S, McNee K, Morgan H, Morrison Z, Mountain P, Potts H, Rees N, Shaw D, Siriwardena N, Snooks H, Spaight R, Williams V.

Southampton (UK): NIHR Journals Library; 2020 Feb.

5.

Cortical synaptic architecture supports flexible sensory computations.

Scholl B, Fitzpatrick D.

Curr Opin Neurobiol. 2020 Feb 20;64:41-45. doi: 10.1016/j.conb.2020.01.013. [Epub ahead of print] Review.

PMID:
32088662
6.

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Shieh C, Jones N, Vanle B, Au M, Huang AY, Silva APG, Lee H, Douine ED, Otero MG, Choi A, Grand K, Taff IP, Delgado MR, Hajianpour MJ, Seeley A, Rohena L, Vernon H, Gripp KW, Vergano SA, Mahida S, Naidu S, Sousa AB, Wain KE, Challman TD, Beek G, Basel D, Ranells J, Smith R, Yusupov R, Freckmann ML, Ohden L, Davis-Keppen L, Chitayat D, Dowling JJ, Finkel R, Dauber A, Spillmann R, Pena LDM; Undiagnosed Diseases Network, Metcalfe K, Splitt M, Lachlan K, McKee SA, Hurst J, Fitzpatrick DR, Morton JEV, Cox H, Venkateswaran S, Young JI, Marsh ED, Nelson SF, Martinez JA, Graham JM Jr, Kini U, Mackay JP, Pierson TM.

Genet Med. 2020 Feb 12. doi: 10.1038/s41436-020-0760-2. [Epub ahead of print]

PMID:
32047287
7.

Effect of Cochlear Implantation on Vestibular Evoked Myogenic Potentials and Wideband Acoustic Immittance.

Merchant GR, Schulz KM, Patterson JN, Fitzpatrick D, Janky KL.

Ear Hear. 2020 Jan 31. doi: 10.1097/AUD.0000000000000831. [Epub ahead of print]

PMID:
32032225
8.

High prevalence of Phasi Charoen-like virus from wild-caught Aedes aegypti in Grenada, W.I. as revealed by metagenomic analysis.

Ramos-Nino ME, Fitzpatrick DM, Tighe S, Eckstrom KM, Hattaway LM, Hsueh AN, Stone DM, Dragon J, Cheetham S.

PLoS One. 2020 Jan 31;15(1):e0227998. doi: 10.1371/journal.pone.0227998. eCollection 2020.

9.

Phylogenetic relationships and diversity of bat-associated Leptospira and the histopathological evaluation of these infections in bats from Grenada, West Indies.

Bevans AI, Fitzpatrick DM, Stone DM, Butler BP, Smith MP, Cheetham S.

PLoS Negl Trop Dis. 2020 Jan 21;14(1):e0007940. doi: 10.1371/journal.pntd.0007940. eCollection 2020 Jan.

10.

Prehospital critical care is associated with increased survival in adult trauma patients in Scotland.

Maddock A, Corfield AR, Donald MJ, Lyon RM, Sinclair N, Fitzpatrick D, Carr D, Hearns S.

Emerg Med J. 2020 Mar;37(3):141-145. doi: 10.1136/emermed-2019-208458. Epub 2020 Jan 20.

11.

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Shieh C, Jones N, Vanle B, Au M, Huang AY, Silva APG, Lee H, Douine ED, Otero MG, Choi A, Grand K, Taff IP, Delgado MR, Hajianpour MJ, Seeley A, Rohena L, Vernon H, Gripp KW, Vergano SA, Mahida S, Naidu S, Sousa AB, Wain KE, Challman TD, Beek G, Basel D, Ranells J, Smith R, Yusupov R, Freckmann ML, Ohden L, Davis-Keppen L, Chitayat D, Dowling JJ, Finkel R, Dauber A, Spillmann R, Pena LDM; Undiagnosed Diseases Network, Metcalfe K, Splitt M, Lachlan K, McKee SA, Hurst J, Fitzpatrick DR, Morton JEV, Cox H, Venkateswaran S, Young JI, Marsh ED, Nelson SF, Martinez JA, Graham JM Jr, Kini U, Mackay JP, Pierson TM.

Genet Med. 2020 Jan 17. doi: 10.1038/s41436-019-0747-z. [Epub ahead of print] Erratum in: Genet Med. 2020 Feb 12;:.

PMID:
31949314
12.

Electrocochleography During Translabyrinthine Approach for Vestibular Schwannoma Removal.

Riggs WJ, Fitzpatrick DC, Mattingly JK, Harris MS, Hiss MM, Rajkumar S, Zhan KY, Brown KD, Moberly AC, Dodson EE, Adunka OF.

Otol Neurotol. 2020 Mar;41(3):e369-e377. doi: 10.1097/MAO.0000000000002543.

PMID:
31923083
13.

CUGC for syndromic microphthalmia including next-generation sequencing-based approaches.

Eintracht J, Corton M, FitzPatrick D, Moosajee M.

Eur J Hum Genet. 2020 Jan 2. doi: 10.1038/s41431-019-0565-4. [Epub ahead of print] No abstract available.

PMID:
31896778
14.

Tracking Yeast Metabolism and the Crabtree Effect in Real Time via CO2 Production using Broadband Acoustic Resonance Dissolution Spectroscopy (BARDS).

Ahmed MR, Doyle N, Connolly C, McSweeney S, Krüse J, Morrissey J, Prentice MB, Fitzpatrick D.

J Biotechnol. 2020 Jan 20;308:63-73. doi: 10.1016/j.jbiotec.2019.11.016. Epub 2019 Nov 30.

PMID:
31794782
15.

Ectoparasites of brown rats (Rattus norvegicus) in Grenada, West Indies.

Thille KN, Rametta NF, Fitzpatrick DM, Springer CC, Tiwari K, Pinckney RD, Sharma RN.

Vet World. 2019 Sep;12(9):1390-1394. doi: 10.14202/vetworld.2019.1390-1394.

16.

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.

Williamson KA, Hall HN, Owen LJ, Livesey BJ, Hanson IM, Adams GGW, Bodek S, Calvas P, Castle B, Clarke M, Deng AT, Edery P, Fisher R, Gillessen-Kaesbach G, Heon E, Hurst J, Josifova D, Lorenz B, McKee S, Meire F, Moore AT, Parker M, Reiff CM, Self J, Tobias ES, Verheij JBGM, Willems M, Williams D, van Heyningen V, Marsh JA, FitzPatrick DR.

Genet Med. 2020 Mar;22(3):598-609. doi: 10.1038/s41436-019-0685-9. Epub 2019 Nov 8.

17.

Redirecting photosynthetic electron flux in the cyanobacterium Synechocystis sp. PCC 6803 by the deletion of flavodiiron protein Flv3.

Thiel K, Patrikainen P, Nagy C, Fitzpatrick D, Pope N, Aro EM, Kallio P.

Microb Cell Fact. 2019 Nov 5;18(1):189. doi: 10.1186/s12934-019-1238-2.

18.

A New World for Chemical Synthesis?

Ley SV, Chen Y, Fitzpatrick DE, May O.

Chimia (Aarau). 2019 Oct 30;73(10):792-802. doi: 10.2533/chimia.2019.792.

PMID:
31645239
19.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

Aitken S, Firth HV, McRae J, Halachev M, Kini U, Parker MJ, Lees MM, Lachlan K, Sarkar A, Joss S, Splitt M, McKee S, Németh AH, Scott RH, Wright CF, Marsh JA, Hurles ME, FitzPatrick DR; DDD Study.

Am J Hum Genet. 2019 Nov 7;105(5):933-946. doi: 10.1016/j.ajhg.2019.09.015. Epub 2019 Oct 10.

20.

Contribution of retrotransposition to developmental disorders.

Gardner EJ, Prigmore E, Gallone G, Danecek P, Samocha KE, Handsaker J, Gerety SS, Ironfield H, Short PJ, Sifrim A, Singh T, Chandler KE, Clement E, Lachlan KL, Prescott K, Rosser E, FitzPatrick DR, Firth HV, Hurles ME.

Nat Commun. 2019 Oct 11;10(1):4630. doi: 10.1038/s41467-019-12520-y.

21.

PRC2.1 and PRC2.2 Synergize to Coordinate H3K27 Trimethylation.

Healy E, Mucha M, Glancy E, Fitzpatrick DJ, Conway E, Neikes HK, Monger C, Van Mierlo G, Baltissen MP, Koseki Y, Vermeulen M, Koseki H, Bracken AP.

Mol Cell. 2019 Nov 7;76(3):437-452.e6. doi: 10.1016/j.molcel.2019.08.012. Epub 2019 Sep 11.

PMID:
31521505
22.

Characterisation of three novel β-1,3 glucanases from the medically important house dust mite Dermatophagoides pteronyssinus (airmid).

Waldron R, McGowan J, Gordon N, Mitchell EB, Fitzpatrick DA, Doyle S.

Insect Biochem Mol Biol. 2019 Dec;115:103242. doi: 10.1016/j.ibmb.2019.103242. Epub 2019 Sep 11.

PMID:
31520716
23.

Functional Logic of Layer 2/3 Inhibitory Connectivity in the Ferret Visual Cortex.

Scholl B, Wilson DE, Jaepel J, Fitzpatrick D.

Neuron. 2019 Nov 6;104(3):451-457.e3. doi: 10.1016/j.neuron.2019.08.004. Epub 2019 Sep 5.

PMID:
31495646
24.

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.

Nellåker C, Alkuraya FS, Baynam G, Bernier RA, Bernier FPJ, Boulanger V, Brudno M, Brunner HG, Clayton-Smith J, Cogné B, Dawkins HJS, deVries BBA, Douzgou S, Dudding-Byth T, Eichler EE, Ferlaino M, Fieggen K, Firth HV, FitzPatrick DR, Gration D, Groza T, Haendel M, Hallowell N, Hamosh A, Hehir-Kwa J, Hitz MP, Hughes M, Kini U, Kleefstra T, Kooy RF, Krawitz P, Küry S, Lees M, Lyon GJ, Lyonnet S, Marcadier JL, Meyn S, Moslerová V, Politei JM, Poulton CC, Raymond FL, Reijnders MRF, Robinson PN, Romano C, Rose CM, Sainsbury DCG, Schofield L, Sutton VR, Turnovec M, Van Dijck A, Van Esch H, Wilkie AOM; Minerva Consortium.

Front Genet. 2019 Jul 29;10:611. doi: 10.3389/fgene.2019.00611. eCollection 2019.

25.

Whole Genome Sequence of the Commercially Relevant Mushroom Strain Agaricus bisporus var. bisporus ARP23.

O'Connor E, McGowan J, McCarthy CGP, Amini A, Grogan H, Fitzpatrick DA.

G3 (Bethesda). 2019 Oct 7;9(10):3057-3066. doi: 10.1534/g3.119.400563.

26.

Anophthalmia including next-generation sequencing-based approaches.

Harding P, Brooks BP, FitzPatrick D, Moosajee M.

Eur J Hum Genet. 2020 Mar;28(3):388-398. doi: 10.1038/s41431-019-0479-1. Epub 2019 Jul 29.

PMID:
31358957
27.

A rapid in-process control (IPC) test to monitor the functionality of taste masking polymer coatings using Broadband Acoustic Resonance Dissolution Spectroscopy (BARDS).

Alfarsi A, O'Mahoney N, Arndt M, Kuntz T, McSweeney S, Krüse J, Skalsky B, Fitzpatrick D.

Int J Pharm. 2019 Sep 10;568:118559. doi: 10.1016/j.ijpharm.2019.118559. Epub 2019 Jul 24.

PMID:
31351177
28.

Insights into the transcriptomic response of the plant engineering bacterium Ensifer adhaerens OV14 during transformation.

Zuniga-Soto E, Fitzpatrick DA, Doohan FM, Mullins E.

Sci Rep. 2019 Jul 17;9(1):10344. doi: 10.1038/s41598-019-44648-8.

29.

Pangloss: A Tool for Pan-Genome Analysis of Microbial Eukaryotes.

McCarthy CGP, Fitzpatrick DA.

Genes (Basel). 2019 Jul 10;10(7). pii: E521. doi: 10.3390/genes10070521.

30.

Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.

Wright CF, Prigmore E, Rajan D, Handsaker J, McRae J, Kaplanis J, Fitzgerald TW, FitzPatrick DR, Firth HV, Hurles ME.

Nat Commun. 2019 Jul 5;10(1):2985. doi: 10.1038/s41467-019-11059-2.

31.

The freshwater isopod Asellus aquaticus as a model biomonitor of environmental pollution: A review.

O'Callaghan I, Harrison S, Fitzpatrick D, Sullivan T.

Chemosphere. 2019 Nov;235:498-509. doi: 10.1016/j.chemosphere.2019.06.217. Epub 2019 Jun 28. Review.

PMID:
31276864
32.

Glioblastoma Multiforme in the over 70's: "To treat or not to treat with radiotherapy?"

Glynn AM, Rangaswamy G, O'Shea J, Dunne M, Grogan R, MacNally S, Fitzpatrick D, Faul C.

Cancer Med. 2019 Aug;8(10):4669-4677. doi: 10.1002/cam4.2398. Epub 2019 Jul 4.

33.

PCR-Based Bloodmeal Analysis of Aedes aegypti and Culex quinquefasciatus (Diptera: Culicidae) in St. George Parish, Grenada.

Fitzpatrick DM, Hattaway LM, Hsueh AN, Ramos-Niño ME, Cheetham SM.

J Med Entomol. 2019 Jun 27;56(4):1170-1175. doi: 10.1093/jme/tjz037.

34.

Identification of Helminth Parasites from Selar crumenophthalmus in Grenada, West Indies.

Dundas NS, Fitzpatrick DM, McKIBBEN JS, Amadi VA, Pinckney RD.

J Food Prot. 2019 Jul;82(7):1244-1248. doi: 10.4315/0362-028X.JFP-18-470.

PMID:
31237789
35.

Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations.

Kaplanis J, Akawi N, Gallone G, McRae JF, Prigmore E, Wright CF, Fitzpatrick DR, Firth HV, Barrett JC, Hurles ME; Deciphering Developmental Disorders study.

Genome Res. 2019 Jul;29(7):1047-1056. doi: 10.1101/gr.239756.118. Epub 2019 Jun 21.

36.

Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.

Olley G, Ansari M, Bengani H, Grimes GR, Rhodes J, von Kriegsheim A, Blatnik A, Stewart FJ, Wakeling E, Carroll N, Ross A, Park SM; Deciphering Developmental Disorders Study, Bickmore WA, Pradeepa MM, FitzPatrick DR.

Nat Genet. 2019 Jul;51(7):1192. doi: 10.1038/s41588-019-0448-1.

PMID:
31168063
37.

Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.

Thormann A, Halachev M, McLaren W, Moore DJ, Svinti V, Campbell A, Kerr SM, Tischkowitz M, Hunt SE, Dunlop MG, Hurles ME, Wright CF, Firth HV, Cunningham F, FitzPatrick DR.

Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.

38.

Gastric perforation through a hiatus hernia into the left lung in an 84-year-old woman.

Fitzpatrick D, Longondjo M.

BMJ Case Rep. 2019 May 14;12(5). pii: e227956. doi: 10.1136/bcr-2018-227956.

PMID:
31092492
39.

Control of Development, Secondary Metabolism and Light-Dependent Carotenoid Biosynthesis by the Velvet Complex of Neurospora crassa.

Bayram ÖS, Dettmann A, Karahoda B, Moloney NM, Ormsby T, McGowan J, Cea-Sánchez S, Miralles-Durán A, Brancini GTP, Luque EM, Fitzpatrick DA, Cánovas D, Corrochano LM, Doyle S, Selker EU, Seiler S, Bayram Ö.

Genetics. 2019 Jul;212(3):691-710. doi: 10.1534/genetics.119.302277. Epub 2019 May 8.

PMID:
31068340
40.

Proteome and allergenome of the European house dust mite Dermatophagoides pteronyssinus.

Waldron R, McGowan J, Gordon N, McCarthy C, Mitchell EB, Fitzpatrick DA.

PLoS One. 2019 May 1;14(5):e0216171. doi: 10.1371/journal.pone.0216171. eCollection 2019.

41.

Hair cell and neural contributions to the cochlear summating potential.

Pappa AK, Hutson KA, Scott WC, Wilson JD, Fox KE, Masood MM, Giardina CK, Pulver SH, Grana GD, Askew C, Fitzpatrick DC.

J Neurophysiol. 2019 Jun 1;121(6):2163-2180. doi: 10.1152/jn.00006.2019. Epub 2019 Apr 3.

PMID:
30943095
42.

Epidemiology of emergency ambulance service calls related to mental health problems and self harm: a national record linkage study.

Duncan EAS, Best C, Dougall N, Skar S, Evans J, Corfield AR, Fitzpatrick D, Goldie I, Maxwell M, Snooks H, Stark C, White C, Wojcik W.

Scand J Trauma Resusc Emerg Med. 2019 Mar 20;27(1):34. doi: 10.1186/s13049-019-0611-9.

43.

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.

Handley MT, Reddy K, Wills J, Rosser E, Kamath A, Halachev M, Falkous G, Williams D, Cox P, Meynert A, Raymond ES, Morrison H, Brown S, Allan E, Aligianis I, Jackson AP, Ramsahoye BH, von Kriegsheim A, Taylor RW, Finch AJ, FitzPatrick DR.

PLoS Genet. 2019 Mar 11;15(3):e1007605. doi: 10.1371/journal.pgen.1007605. eCollection 2019 Mar.

44.

NAA10 polyadenylation signal variants cause syndromic microphthalmia.

Johnston JJ, Williamson KA, Chou CM, Sapp JC, Ansari M, Chapman HM, Cooper DN, Dabir T, Dudley JN, Holt RJ, Ragge NK, Schäffer AA, Sen SK, Slavotinek AM, FitzPatrick DR, Glaser TM, Stewart F, Black GC, Biesecker LG.

J Med Genet. 2019 Jul;56(7):444-452. doi: 10.1136/jmedgenet-2018-105836. Epub 2019 Mar 6.

45.

Author Correction: Stability, affinity, and chromatic variants of the glutamate sensor iGluSnFR.

Marvin JS, Scholl B, Wilson DE, Podgorski K, Kazemipour A, Müller JA, Schoch S, Quiroz FJU, Rebola N, Bao H, Little JP, Tkachuk AN, Cai E, Hantman AW, Wang SS, DePiero VJ, Borghuis BG, Chapman ER, Dietrich D, DiGregorio DA, Fitzpatrick D, Looger LL.

Nat Methods. 2019 Apr;16(4):351. doi: 10.1038/s41592-019-0363-5.

PMID:
30820033
46.

A Case of Overlap Posterior Cortical Atrophy and Logopenic Variant Primary Progressive Aphasia.

Fitzpatrick D, Blanco-Campal A, Kyne L.

Neurologist. 2019 Mar;24(2):62-65. doi: 10.1097/NRL.0000000000000225.

PMID:
30817493
47.

The sound of salts by Broadband Acoustic Resonance Dissolution Spectroscopy.

van Ruth S, Dekker P, Brouwer E, Rozijn M, Erasmus S, Fitzpatrick D.

Food Res Int. 2019 Feb;116:1047-1058. doi: 10.1016/j.foodres.2018.09.044. Epub 2018 Sep 24.

48.

Pan-genome analyses of model fungal species.

McCarthy CGP, Fitzpatrick DA.

Microb Genom. 2019 Feb;5(2). doi: 10.1099/mgen.0.000243. Epub 2019 Feb 4.

49.

The Magical Horizontal Force Muscle? A Preliminary Study Examining the "Force-Vector" Theory.

Fitzpatrick DA, Cimadoro G, Cleather DJ.

Sports (Basel). 2019 Jan 22;7(2). pii: E30. doi: 10.3390/sports7020030.

50.

High-sensitivity troponin T in marathon runners, marathon runners with heart disease and collapsed marathon runners.

Leckie T, Richardson A, Watkins E, Fitzpatrick D, Galloway R, Grimaldi R, Roberts A, Baker P.

Scand J Med Sci Sports. 2019 May;29(5):663-668. doi: 10.1111/sms.13392. Epub 2019 Feb 17.

PMID:
30664255

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