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The Cervicovaginal Microbiota-Host Interaction Modulates Chlamydia trachomatis Infection.

Edwards VL, Smith SB, McComb EJ, Tamarelle J, Ma B, Humphrys MS, Gajer P, Gwilliam K, Schaefer AM, Lai SK, Terplan M, Mark KS, Brotman RM, Forney LJ, Bavoil PM, Ravel J.

MBio. 2019 Aug 13;10(4). pii: e01548-19. doi: 10.1128/mBio.01548-19.


Comparative Innate and Adaptive Immune Responses in Atlantic Bottlenose Dolphins (Tursiops truncatus) With Viral, Bacterial, and Fungal Infections.

Bossart GD, Romano TA, Peden-Adams MM, Schaefer AM, Rice CD, Fair PA, Reif JS.

Front Immunol. 2019 May 29;10:1125. doi: 10.3389/fimmu.2019.01125. eCollection 2019.


Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.

Ng YS, Martikainen MH, Gorman GS, Blain A, Bugiardini E, Bunting A, Schaefer AM, Alston CL, Blakely EL, Sharma S, Hughes I, Lim A, de Goede C, McEntagart M, Spinty S, Horrocks I, Roberts M, Woodward CE, Chinnery PF, Horvath R, Nesbitt V, Fratter C, Poulton J, Hanna MG, Pitceathly RDS, Taylor RW, Turnbull DM, McFarland R.

Ann Neurol. 2019 Aug;86(2):310-315. doi: 10.1002/ana.25525. Epub 2019 Jul 1.


A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia.

Zierz CM, Baty K, Blakely EL, Hopton S, Falkous G, Schaefer AM, Hadjivassiliou M, Sarrigiannis PG, Ng YS, Taylor RW.

J Clin Med. 2019 Jun 4;8(6). pii: E789. doi: 10.3390/jcm8060789.


Cognitive deficits in adult m.3243A>G- and m.8344A>G-related mitochondrial disease: importance of correcting for baseline intellectual ability.

Moore HL, Kelly T, Bright A, Field RH, Schaefer AM, Blain AP, Taylor RW, McFarland R, Turnbull DM, Gorman GS.

Ann Clin Transl Neurol. 2019 Mar 27;6(5):826-836. doi: 10.1002/acn3.736. eCollection 2019 May.



Vanstreels RET, Parsons NJ, Pistorius PA, Schaefer AM.

J Wildl Dis. 2019 May 13. [Epub ahead of print]


Use of Antimetastatic SOD3-Mimetic Albumin as a Primer in Triple Negative Breast Cancer.

Messerli SM, Schaefer AM, Zhuang Y, Soltys BJ, Keime N, Jin J, Ma L, Hsia CJC, Miskimins WK.

J Oncol. 2019 Feb 28;2019:3253696. doi: 10.1155/2019/3253696. eCollection 2019.


Genomic sequencing of a virus representing a novel type within the species Dyopipapillomavirus 1 in an Indian River Lagoon bottlenose dolphin.

Cortés-Hinojosa G, Subramaniam K, Wellehan JFX Jr, Ng TFF, Delwart E, McCulloch SD, Goldstein JD, Schaefer AM, Fair PA, Reif JS, Bossart GD, Waltzek TB.

Arch Virol. 2019 Mar;164(3):767-774. doi: 10.1007/s00705-018-04117-5. Epub 2019 Jan 20.


Genomic characterization of a novel pegivirus species from free-ranging bottlenose dolphins (Tursiops truncatus) in the Indian River Lagoon, Florida.

Rodrigues TCS, Subramaniam K, McCulloch SD, Goldstein JD, Schaefer AM, Fair PA, Reif JS, Bossart GD, Waltzek TB.

Virus Res. 2019 Apr 2;263:98-101. doi: 10.1016/j.virusres.2019.01.002. Epub 2019 Jan 8.


Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease.

Boal RL, Ng YS, Pickett SJ, Schaefer AM, Feeney C, Bright A, Taylor RW, Turnbull DM, Gorman GS, Cheetham T, McFarland R.

J Clin Endocrinol Metab. 2019 Jun 1;104(6):2057-2066. doi: 10.1210/jc.2018-00957.


Convolutional neural networks automate detection for tracking of submicron-scale particles in 2D and 3D.

Newby JM, Schaefer AM, Lee PT, Forest MG, Lai SK.

Proc Natl Acad Sci U S A. 2018 Sep 4;115(36):9026-9031. doi: 10.1073/pnas.1804420115. Epub 2018 Aug 22.


Appropriate and timely antibiotic administration for neonatal sepsis in Mesoamérica.

Duber HC, Hartford EA, Schaefer AM, Johanns CK, Colombara DV, Iriarte E, Palmisano EB, Rios-Zertuche D, Zuniga-Brenes P, Hernández-Prado B, Mokdad AH.

BMJ Glob Health. 2018 May 24;3(3):e000650. doi: 10.1136/bmjgh-2017-000650. eCollection 2018.


mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.

Grady JP, Pickett SJ, Ng YS, Alston CL, Blakely EL, Hardy SA, Feeney CL, Bright AA, Schaefer AM, Gorman GS, McNally RJ, Taylor RW, Turnbull DM, McFarland R.

EMBO Mol Med. 2018 Jun;10(6). pii: e8262. doi: 10.15252/emmm.201708262.


Thyroid Hormones Are Transport Substrates and Transcriptional Regulators of Organic Anion Transporting Polypeptide 2B1.

Meyer Zu Schwabedissen HE, Ferreira C, Schaefer AM, Oufir M, Seibert I, Hamburger M, Tirona RG.

Mol Pharmacol. 2018 Jul;94(1):700-712. doi: 10.1124/mol.117.111161. Epub 2018 May 7.


Complete Genome Sequencing of a Novel Type of Omikronpapillomavirus 1 in Indian River Lagoon Bottlenose Dolphins (Tursiops truncatus).

Rodrigues TCS, Subramaniam K, Cortés-Hinojosa G, Wellehan JFX Jr, Ng TFF, Delwart E, McCulloch SD, Goldstein JD, Schaefer AM, Fair PA, Reif JS, Bossart GD, Waltzek TB.

Genome Announc. 2018 Apr 26;6(17). pii: e00240-18. doi: 10.1128/genomeA.00240-18.


Telehealth and in-person training outcomes for novice discrete trial training therapists.

Sump LA, Richman DM, Schaefer AM, Grubb LM, Brewer AT.

J Appl Behav Anal. 2018 Jul;51(3):466-481. doi: 10.1002/jaba.461. Epub 2018 Apr 23.


Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.

Pickett SJ, Grady JP, Ng YS, Gorman GS, Schaefer AM, Wilson IJ, Cordell HJ, Turnbull DM, Taylor RW, McFarland R.

Ann Clin Transl Neurol. 2018 Feb 7;5(3):333-345. doi: 10.1002/acn3.532. eCollection 2018 Mar.


MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.

Ng YS, Lax NZ, Maddison P, Alston CL, Blakely EL, Hepplewhite PD, Riordan G, Meldau S, Chinnery PF, Pierre G, Chronopoulou E, Du A, Hughes I, Morris AA, Kamakari S, Chrousos G, Rodenburg RJ, Saris CGJ, Feeney C, Hardy SA, Sakakibara T, Sudo A, Okazaki Y, Murayama K, Mundy H, Hanna MG, Ohtake A, Schaefer AM, Champion MP, Turnbull DM, Taylor RW, Pitceathly RDS, McFarland R, Gorman GS.

EBioMedicine. 2018 Apr;30:86-93. doi: 10.1016/j.ebiom.2018.02.010. Epub 2018 Feb 24.


Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.

Rocha MC, Rosa HS, Grady JP, Blakely EL, He L, Romain N, Haller RG, Newman J, McFarland R, Ng YS, Gorman GS, Schaefer AM, Tuppen HA, Taylor RW, Turnbull DM.

Ann Neurol. 2018 Jan;83(1):115-130. doi: 10.1002/ana.25127.


Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia.

Sommerville EW, Jones RL, Hardy SA, Blakely EL, Pyle A, Schaefer AM, Chinnery PF, Turnbull DM, Gorman GS, Taylor RW.

Neurol Genet. 2017 Dec 15;3(6):e202. doi: 10.1212/NXG.0000000000000202. eCollection 2017 Dec. No abstract available.



Parsons NJ, Vanstreels RET, Schaefer AM.

J Wildl Dis. 2018 Jan;54(1):54-65. doi: 10.7589/2017-06-146. Epub 2017 Oct 23.


Health and Environmental Risk Assessment Project for bottlenose dolphins Tursiops truncatus from the southeastern USA. II. Environmental aspects.

Reif JS, Schaefer AM, Bossart GD, Fair PA.

Dis Aquat Organ. 2017 Jul 24;125(2):155-166. doi: 10.3354/dao03143. Review.


Health and Environmental Risk Assessment Project for bottlenose dolphins Tursiops truncatus from the southeastern USA. I. Infectious diseases.

Bossart GD, Fair P, Schaefer AM, Reif JS.

Dis Aquat Organ. 2017 Jul 24;125(2):141-153. doi: 10.3354/dao03142. Review.


Evaluation of Serum for Pathophysiological Effects of Prolonged Low Salinity Water Exposure in Displaced Bottlenose Dolphins (Tursiops truncatus).

Ewing RY, Mase-Guthrie B, McFee W, Townsend F, Manire CA, Walsh M, Borkowski R, Bossart GD, Schaefer AM.

Front Vet Sci. 2017 Jun 8;4:80. doi: 10.3389/fvets.2017.00080. eCollection 2017.


ATOH1 Promotes Leptomeningeal Dissemination and Metastasis of Sonic Hedgehog Subgroup Medulloblastomas.

Grausam KB, Dooyema SDR, Bihannic L, Premathilake H, Morrissy AS, Forget A, Schaefer AM, Gundelach JH, Macura S, Maher DM, Wang X, Heglin AH, Ge X, Zeng E, Puget S, Chandrasekar I, Surendran K, Bram RJ, Schüller U, Talyor MD, Ayrault O, Zhao H.

Cancer Res. 2017 Jul 15;77(14):3766-3777. doi: 10.1158/0008-5472.CAN-16-1836. Epub 2017 May 10.


The environment as a driver of immune and endocrine responses in dolphins (Tursiops truncatus).

Fair PA, Schaefer AM, Houser DS, Bossart GD, Romano TA, Champagne CD, Stott JL, Rice CD, White N, Reif JS.

PLoS One. 2017 May 3;12(5):e0176202. doi: 10.1371/journal.pone.0176202. eCollection 2017.


Clinical Reasoning: A 71-year-old woman with subacute progressive distal weakness and paresthesia after vaccination.

Cruz S, Schaefer AM, Joshi A, Baker MR.

Neurology. 2017 Apr 25;88(17):e168-e173. doi: 10.1212/WNL.0000000000003869. No abstract available.


Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.

Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS.

JAMA Neurol. 2017 Jun 1;74(6):686-694. doi: 10.1001/jamaneurol.2016.4357.


Occurrence of blood parasites in seabirds admitted for rehabilitation in the Western Cape, South Africa, 2001-2013.

Parsons NJ, Voogt NM, Schaefer AM, Peirce MA, Vanstreels RE.

Vet Parasitol. 2017 Jan 15;233:52-61. doi: 10.1016/j.vetpar.2016.12.001. Epub 2016 Dec 2.


Cutaneous Granulomas in Dolphins Caused by Novel Uncultivated Paracoccidioides brasiliensis.

Vilela R, Bossart GD, St Leger JA, Dalton LM, Reif JS, Schaefer AM, McCarthy PJ, Fair PA, Mendoza L.

Emerg Infect Dis. 2016 Dec;22(12):2063-2069. doi: 10.3201/eid2212.160860.


Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.

Wesolowska M, Gorman GS, Alston CL, Pajak A, Pyle A, He L, Griffin H, Chinnery PF, Miller JA, Schaefer AM, Taylor RW, Lightowlers RN, Chrzanowska-Lightowlers ZM.

J Neuromuscul Dis. 2015 Oct 7;2(4):409-419.


Health evaluation of African penguins (<i>Spheniscus demersus</i>) in southern Africa.

Parsons NJ, Gous TA, Schaefer AM, Vanstreels RE.

Onderstepoort J Vet Res. 2016 Sep 20;83(1):e1-e13. doi: 10.4102/ojvr.v83i1.1147.


The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.

Vincent AE, Ng YS, White K, Davey T, Mannella C, Falkous G, Feeney C, Schaefer AM, McFarland R, Gorman GS, Taylor RW, Turnbull DM, Picard M.

Sci Rep. 2016 Aug 10;6:30610. doi: 10.1038/srep30610. Review.


Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination.

Ng YS, Feeney C, Schaefer AM, Holmes CE, Hynd P, Alston CL, Grady JP, Roberts M, Maguire M, Bright A, Taylor RW, Yiannakou Y, McFarland R, Turnbull DM, Gorman GS.

Ann Neurol. 2016 Nov;80(5):686-692. doi: 10.1002/ana.24736. Epub 2016 Sep 19.


Toward the identification, characterization and experimental culture of Lacazia loboi from Atlantic bottlenose dolphin (Tursiops truncatus).

Schaefer AM, Reif JS, Guzmán EA, Bossart GD, Ottuso P, Snyder J, Medalie N, Rosato R, Han S, Fair PA, McCarthy PJ.

Med Mycol. 2016 Aug 1;54(6):659-65. doi: 10.1093/mmy/myw011. Epub 2016 Apr 26.


Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.

Martikainen MH, Ng YS, Gorman GS, Alston CL, Blakely EL, Schaefer AM, Chinnery PF, Burn DJ, Taylor RW, McFarland R, Turnbull DM.

JAMA Neurol. 2016 Jun 1;73(6):668-74. doi: 10.1001/jamaneurol.2016.0355.


Atlantic Bottlenose Dolphins (Tursiops truncatus) as A Sentinel for Exposure to Mercury in Humans: Closing the Loop.

Reif JS, Schaefer AM, Bossart GD.

Vet Sci. 2015 Nov 12;2(4):407-422. doi: 10.3390/vetsci2040407. Review.


Epilepsy in adults with mitochondrial disease: A cohort study.

Whittaker RG, Devine HE, Gorman GS, Schaefer AM, Horvath R, Ng Y, Nesbitt V, Lax NZ, McFarland R, Cunningham MO, Taylor RW, Turnbull DM.

Ann Neurol. 2015 Dec;78(6):949-57. doi: 10.1002/ana.24525. Epub 2015 Nov 17.


Mucocutaneous lesions in free-ranging Atlantic bottlenose dolphins Tursiops truncatus from the southeastern USA.

Bossart GD, Schaefer AM, McCulloch S, Goldstein J, Fair PA, Reif JS.

Dis Aquat Organ. 2015 Aug 20;115(3):175-84. doi: 10.3354/dao02895.


Adult-onset myoclonus ataxia associated with the mitochondrial m.8993T>C "NARP" mutation.

Martikainen MH, Gorman GS, Goldsmith P, Burn DJ, Turnbull DM, Schaefer AM.

Mov Disord. 2015 Sep;30(10):1432-3. doi: 10.1002/mds.26358. Epub 2015 Aug 12. No abstract available.


Mercury concentrations in Atlantic bottlenose dolphins (Tursiops truncatus) inhabiting the Indian River Lagoon, Florida: Patterns of spatial and temporal distribution.

Schaefer AM, Titcomb EM, Fair PA, Stavros HW, Mazzoil M, Bossart GD, Reif JS.

Mar Pollut Bull. 2015 Aug 15;97(1-2):544-547. doi: 10.1016/j.marpolbul.2015.05.007. Epub 2015 Jun 26.


Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease.

Newman J, Galna B, Jakovljevic DG, Bates MG, Schaefer AM, McFarland R, Turnbull DM, Trenell MI, Taylor RW, Rochester L, Gorman GS.

J Neuromuscul Dis. 2015 Jun 4;2(2):151-155.


Establishment of baseline haematology and biochemistry parameters in wild adult African penguins (Spheniscus demersus).

Parsons NJ, Schaefer AM, van der Spuy SD, Gous TA.

J S Afr Vet Assoc. 2015 Mar 25;86(1):e1-e8. doi: 10.4102/jsava.v86i1.1198.


Mercury concentrations in the prey of apex piscivores from a large subtropical estuary.

Tremain DM, Schaefer AM.

Mar Pollut Bull. 2015 Jun 15;95(1):433-44. doi: 10.1016/j.marpolbul.2015.03.033. Epub 2015 Mar 30.


Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.

Gorman GS, Schaefer AM, Ng Y, Gomez N, Blakely EL, Alston CL, Feeney C, Horvath R, Yu-Wai-Man P, Chinnery PF, Taylor RW, Turnbull DM, McFarland R.

Ann Neurol. 2015 May;77(5):753-9. doi: 10.1002/ana.24362. Epub 2015 Mar 28.


Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

Gorman GS, Pfeffer G, Griffin H, Blakely EL, Kurzawa-Akanbi M, Gabriel J, Sitarz K, Roberts M, Schoser B, Pyle A, Schaefer AM, McFarland R, Turnbull DM, Horvath R, Chinnery PF, Taylor RW.

JAMA Neurol. 2015 Jan;72(1):106-11. doi: 10.1001/jamaneurol.2014.1753.


The conserved LIM domain-containing focal adhesion protein ZYX-1 regulates synapse maintenance in Caenorhabditis elegans.

Luo S, Schaefer AM, Dour S, Nonet ML.

Development. 2014 Oct;141(20):3922-33. doi: 10.1242/dev.108217. Epub 2014 Sep 24.


The urinary proteome and metabonome differ from normal in adults with mitochondrial disease.

Hall AM, Vilasi A, Garcia-Perez I, Lapsley M, Alston CL, Pitceathly RD, McFarland R, Schaefer AM, Turnbull DM, Beaumont NJ, Hsuan JJ, Cutillas PR, Lindon JC, Holmes E, Unwin RJ, Taylor RW, Gorman GS, Rahman S, Hanna MG.

Kidney Int. 2015 Mar;87(3):610-22. doi: 10.1038/ki.2014.297. Epub 2014 Sep 10.


Stress response of wild bottlenose dolphins (Tursiops truncatus) during capture-release health assessment studies.

Fair PA, Schaefer AM, Romano TA, Bossart GD, Lamb SV, Reif JS.

Gen Comp Endocrinol. 2014 Sep 15;206:203-12. doi: 10.1016/j.ygcen.2014.07.002. Epub 2014 Jul 11.


Hair mercury concentrations and fish consumption patterns in Florida residents.

Schaefer AM, Jensen EL, Bossart GD, Reif JS.

Int J Environ Res Public Health. 2014 Jun 26;11(7):6709-26. doi: 10.3390/ijerph110706709.

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