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X-linked myotubular myopathy: A prospective international natural history study.

Annoussamy M, Lilien C, Gidaro T, Gargaun E, Chê V, Schara U, Gangfuß A, D'Amico A, Dowling JJ, Darras BT, Daron A, Hernandez A, de Lattre C, Arnal JM, Mayer M, Cuisset JM, Vuillerot C, Fontaine S, Bellance R, Biancalana V, Buj-Bello A, Hogrel JY, Landy H, Servais L.

Neurology. 2019 Mar 22. pii: 10.1212/WNL.0000000000007319. doi: 10.1212/WNL.0000000000007319. [Epub ahead of print]


Similarity clustering based atlas selection for pelvic CT image segmentation.

Kennedy A, Dowling J, Greer PB, Holloway L, Jameson MG, Roach D, Ghose S, Rivest-Hénault D, Marcello M, Ebert MA.

Med Phys. 2019 Mar 18. doi: 10.1002/mp.13494. [Epub ahead of print]


RIPK1 can mediate apoptosis in addition to necroptosis during embryonic development.

Zhang X, Dowling JP, Zhang J.

Cell Death Dis. 2019 Mar 13;10(3):245. doi: 10.1038/s41419-019-1490-8.


Feasibility of multi-atlas cardiac segmentation from thoracic planning CT in a probabilistic framework.

Finnegan RN, Dowling JA, Koh ES, Tang S, Otton J, Delaney G, Batumalai V, Luo C, Atluri P, Satchithanandha A, Thwaites DI, Holloway L.

Phys Med Biol. 2019 Mar 11. doi: 10.1088/1361-6560/ab0ea6. [Epub ahead of print]


Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ.

Am J Hum Genet. 2019 Mar 7;104(3):466-483. doi: 10.1016/j.ajhg.2019.01.012. Epub 2019 Feb 28.


The Single Nucleotide Polymorphism Mal-D96N Mice Provide New Insights into Functionality of Mal in TLR Immune Responses.

Dowling JK, Tate MD, Rosli S, Bourke NM, Bitto N, Lauterbach MA, Cheung S, Ve T, Kobe B, Golenbock D, Mansell A.

J Immunol. 2019 Feb 20. pii: ji1800501. doi: 10.4049/jimmunol.1800501. [Epub ahead of print]


Optical angular momentum manipulations in a four-wave mixing process.

Prajapati N, Super N, Lanning NR, Dowling JP, Novikova I.

Opt Lett. 2019 Feb 15;44(4):739-742. doi: 10.1364/OL.44.000739.


TRADD regulates perinatal development and adulthood survival in mice lacking RIPK1 and RIPK3.

Dowling JP, Alsabbagh M, Del Casale C, Liu ZG, Zhang J.

Nat Commun. 2019 Feb 11;10(1):705. doi: 10.1038/s41467-019-08584-5.


Biocide Exposure Induces Changes in Susceptibility, Pathogenicity, and Biofilm Formation in Uropathogenic Escherichia coli.

Henly EL, Dowling JAR, Maingay JB, Lacey MM, Smith TJ, Forbes S.

Antimicrob Agents Chemother. 2019 Feb 26;63(3). pii: e01892-18. doi: 10.1128/AAC.01892-18. Print 2019 Mar.


Multi-observer contouring of male pelvic anatomy: Highly variable agreement across conventional and emerging structures of interest.

Roach D, Holloway LC, Jameson MG, Dowling JA, Kennedy A, Greer PB, Krawiec M, Rai R, Denham J, De Leon J, Lim K, Berry ME, White RT, Bydder SA, Tan HT, Croker JD, McGrath A, Matthews J, Smeenk RJ, Ebert MA.

J Med Imaging Radiat Oncol. 2019 Jan 4. doi: 10.1111/1754-9485.12844. [Epub ahead of print]


Characterization of prostate cancer using diffusion tensor imaging: A new perspective.

Gholizadeh N, Greer PB, Simpson J, Denham J, Lau P, Dowling J, Hondermarck H, Ramadan S.

Eur J Radiol. 2019 Jan;110:112-120. doi: 10.1016/j.ejrad.2018.11.026. Epub 2018 Nov 22.


Validating the Secondary Traumatic Stress Scale for Pediatric Nurses.

Kellogg MB, Dowling JS, Knight M, Crawford SL.

J Nurs Meas. 2018 Dec;26(3):E114-E126. doi: 10.1891/1061-3749.26.3.E114.


Pharmacotherapeutic strategies for standard treatment-resistant psoriasis.

Heath MS, Kolli SS, Dowling JR, Cline A, Feldman SR.

Expert Opin Pharmacother. 2019 Mar;20(4):443-454. doi: 10.1080/14656566.2018.1559819. Epub 2018 Dec 27. Review.


Dedicated MRI simulation for cervical cancer radiation treatment planning: Assessing the impact on clinical target volume delineation.

Veera J, Lim K, Dowling JA, O'Connor C, Holloway LC, Vinod SK.

J Med Imaging Radiat Oncol. 2018 Dec 3. doi: 10.1111/1754-9485.12831. [Epub ahead of print]


Secondary Traumatic Stress in Pediatric Nurses.

Kellogg MB, Knight M, Dowling JS, Crawford SL.

J Pediatr Nurs. 2018 Nov - Dec;43:97-103. doi: 10.1016/j.pedn.2018.08.016. Epub 2018 Sep 24.


Tamoxifen therapy in a murine model of myotubular myopathy.

Maani N, Sabha N, Rezai K, Ramani A, Groom L, Eltayeb N, Mavandadnejad F, Pang A, Russo G, Brudno M, Haucke V, Dirksen RT, Dowling JJ.

Nat Commun. 2018 Nov 19;9(1):4849. doi: 10.1038/s41467-018-07057-5.


Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease.

Zhao M, Maani N, Dowling JJ.

Neurotherapeutics. 2018 Oct;15(4):966-975. doi: 10.1007/s13311-018-00686-0. Review.


Pseudo-CT Generation for MRI-Only Radiation Therapy Treatment Planning: Comparison Among Patch-Based, Atlas-Based, and Bulk Density Methods.

Largent A, Barateau A, Nunes JC, Lafond C, Greer PB, Dowling JA, Saint-Jalmes H, Acosta O, de Crevoisier R.

Int J Radiat Oncol Biol Phys. 2019 Feb 1;103(2):479-490. doi: 10.1016/j.ijrobp.2018.10.002. Epub 2018 Oct 16.


A Life in Vision.

Dowling JE.

Annu Rev Vis Sci. 2018 Sep 15;4:1-23. doi: 10.1146/annurev-vision-091517-034222.


An Atypical Parvovirus Drives Chronic Tubulointerstitial Nephropathy and Kidney Fibrosis.

Roediger B, Lee Q, Tikoo S, Cobbin JCA, Henderson JM, Jormakka M, O'Rourke MB, Padula MP, Pinello N, Henry M, Wynne M, Santagostino SF, Brayton CF, Rasmussen L, Lisowski L, Tay SS, Harris DC, Bertram JF, Dowling JP, Bertolino P, Lai JH, Wu W, Bachovchin WW, Wong JJ, Gorrell MD, Shaban B, Holmes EC, Jolly CJ, Monette S, Weninger W.

Cell. 2018 Oct 4;175(2):530-543.e24. doi: 10.1016/j.cell.2018.08.013. Epub 2018 Sep 13.


Comparative study of algorithms for synthetic CT generation from MRI: Consequences for MRI-guided radiation planning in the pelvic region.

Arabi H, Dowling JA, Burgos N, Han X, Greer PB, Koutsouvelis N, Zaidi H.

Med Phys. 2018 Nov;45(11):5218-5233. doi: 10.1002/mp.13187. Epub 2018 Oct 10.


ESM-CT: a precise method for localization of DBS electrodes in CT images.

Milchenko M, Snyder AZ, Campbell MC, Dowling JL, Rich KM, Brier LM, Perlmutter JS, Norris SA.

J Neurosci Methods. 2018 Oct 1;308:366-376. doi: 10.1016/j.jneumeth.2018.09.009. Epub 2018 Sep 7.


A lightweight rapid application development framework for biomedical image analysis.

Chandra SS, Dowling JA, Engstrom C, Xia Y, Paproki A, Neubert A, Rivest-Hénault D, Salvado O, Crozier S, Fripp J.

Comput Methods Programs Biomed. 2018 Oct;164:193-205. doi: 10.1016/j.cmpb.2018.07.011. Epub 2018 Jul 26.


Implementation of a Statewide Program to Promote Safe Sleep, Breastfeeding and Tobacco Cessation to High Risk Pregnant Women.

Ahlers-Schmidt CR, Schunn C, Engel M, Dowling J, Neufeld K, Kuhlmann S.

J Community Health. 2019 Feb;44(1):185-191. doi: 10.1007/s10900-018-0571-4.


A Rare Axonal Variant of Guillain-Barré Syndrome following Elective Spinal Surgery.

Dowling JR, Dowling TJ Jr.

Case Rep Orthop. 2018 Aug 7;2018:2384969. doi: 10.1155/2018/2384969. eCollection 2018.


X-Linked Myotubular Myopathy.

Dowling JJ, Lawlor MW, Das S.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2002 Feb 25 [updated 2018 Aug 23].


An integrated modelling methodology for estimating the prevalence of centronuclear myopathy.

Vandersmissen I, Biancalana V, Servais L, Dowling JJ, Vander Stichele G, Van Rooijen S, Thielemans L.

Neuromuscul Disord. 2018 Sep;28(9):766-777. doi: 10.1016/j.nmd.2018.06.012. Epub 2018 Jul 1. Review.


Orbital-angular-momentum-enhanced estimation of sub-Heisenberg-limited angular displacement with two-mode squeezed vacuum and parity detection.

Zhang JD, Zhang ZJ, Cen LZ, You C, Adhikari S, Dowling JP, Zhao Y.

Opt Express. 2018 Jun 25;26(13):16524-16534. doi: 10.1364/OE.26.016524.


Sub-shot-noise-limited phase estimation via SU(1,1) interferometer with thermal states.

Ma X, You C, Adhikari S, Matekole ES, Glasser RT, Lee H, Dowling JP.

Opt Express. 2018 Jul 9;26(14):18492-18504. doi: 10.1364/OE.26.018492.


Graphene-based dual-band independently tunable infrared absorber.

Sun P, You C, Mahigir A, Liu T, Xia F, Kong W, Veronis G, Dowling JP, Dong L, Yun M.

Nanoscale. 2018 Aug 23;10(33):15564-15570. doi: 10.1039/c8nr02525h.


Membrane vesicles from Pseudomonas aeruginosa activate the noncanonical inflammasome through caspase-5 in human monocytes.

Bitto NJ, Baker PJ, Dowling JK, Wray-McCann G, De Paoli A, Tran LS, Leung PL, Stacey KJ, Mansell A, Masters SL, Ferrero RL.

Immunol Cell Biol. 2018 Nov;96(10):1120-1130. doi: 10.1111/imcb.12190. Epub 2018 Aug 14.


Toward Scalable Boson Sampling with Photon Loss.

Wang H, Li W, Jiang X, He YM, Li YH, Ding X, Chen MC, Qin J, Peng CZ, Schneider C, Kamp M, Zhang WJ, Li H, You LX, Wang Z, Dowling JP, Höfling S, Lu CY, Pan JW.

Phys Rev Lett. 2018 Jun 8;120(23):230502. doi: 10.1103/PhysRevLett.120.230502.


Concluding remarks on the Lasker/IRRF initiative on amblyopia.

Dowling JE.

Vis Neurosci. 2018 Jan;35:E019. doi: 10.1017/S0952523817000268. Review. No abstract available.


Internal dose escalation is associated with increased local control for non-small cell lung cancer (NSCLC) brain metastases treated with stereotactic radiosurgery (SRS).

Abraham C, Garsa A, Badiyan SN, Drzymala R, Yang D, DeWees T, Tsien C, Dowling JL, Rich KM, Chicoine MR, Kim AH, Leuthardt EC, Robinson C.

Adv Radiat Oncol. 2017 Nov 24;3(2):146-153. doi: 10.1016/j.adro.2017.11.003. eCollection 2018 Apr-Jun.


Estimation of Hounsfield unit conversion parameters for pelvic CT images.

Kennedy A, Dowling J, Greer PB, Ebert MA.

Australas Phys Eng Sci Med. 2018 Sep;41(3):739-745. doi: 10.1007/s13246-018-0651-x. Epub 2018 Jun 7.


Myopic shift in a pseudophakic eye with an accommodating IOL following vitrectomy with gas tamponade.

Aker J, Dowling J, Halperin L.

Am J Ophthalmol Case Rep. 2018 Apr 11;10:307-309. doi: 10.1016/j.ajoc.2018.04.005. eCollection 2018 Jun.


Uniparental disomy unveils a novel recessive mutation in POMT2.

Brun BN, Willer T, Darbro BW, Gonorazky HD, Naumenko S, Dowling JJ, Campbell KP, Moore SA, Mathews KD.

Neuromuscul Disord. 2018 Jul;28(7):592-596. doi: 10.1016/j.nmd.2018.04.003. Epub 2018 Apr 10.


Radiotherapy dose-distribution to the perirectal fat space (PRS) is related to gastrointestinal control-related complications.

Gulliford SL, Ghose S, Ebert MA, Kennedy A, Dowling J, Mitra J, Joseph DJ, Denham JW.

Clin Transl Radiat Oncol. 2017 Nov 6;7:62-70. doi: 10.1016/j.ctro.2017.10.002. eCollection 2017 Dec.


Discovery of 2,6-disubstituted pyrazine derivatives as inhibitors of CK2 and PIM kinases.

Gingipalli L, Block MH, Bao L, Cooke E, Dakin LA, Denz CR, Ferguson AD, Johannes JW, Larsen NA, Lyne PD, Pontz TW, Wang T, Wu X, Wu A, Zhang HJ, Zheng X, Dowling JE, Lamb ML.

Bioorg Med Chem Lett. 2018 May 1;28(8):1336-1341. doi: 10.1016/j.bmcl.2018.03.018. Epub 2018 Mar 7.


Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.

Todd JJ, Razaqyar MS, Witherspoon JW, Lawal TA, Mankodi A, Chrismer IC, Allen C, Meyer MD, Kuo A, Shelton MS, Amburgey K, Niyazov D, Fequiere P, Bönnemann CG, Dowling JJ, Meilleur KG.

Front Neurol. 2018 Mar 5;9:118. doi: 10.3389/fneur.2018.00118. eCollection 2018.


The genetics of congenital myopathies.

Gonorazky HD, Bönnemann CG, Dowling JJ.

Handb Clin Neurol. 2018;148:549-564. doi: 10.1016/B978-0-444-64076-5.00036-3. Review.


Kynurenine pathway metabolism and the neurobiology of treatment-resistant depression: Comparison of multiple ketamine infusions and electroconvulsive therapy.

Allen AP, Naughton M, Dowling J, Walsh A, O'Shea R, Shorten G, Scott L, McLoughlin DM, Cryan JF, Clarke G, Dinan TG.

J Psychiatr Res. 2018 May;100:24-32. doi: 10.1016/j.jpsychires.2018.02.011. Epub 2018 Feb 10.


Determining direct binders of the Androgen Receptor using a high-throughput Cellular Thermal Shift Assay.

Shaw J, Leveridge M, Norling C, Karén J, Molina DM, O'Neill D, Dowling JE, Davey P, Cowan S, Dabrowski M, Main M, Gianni D.

Sci Rep. 2018 Jan 9;8(1):163. doi: 10.1038/s41598-017-18650-x.


Correlations between contouring similarity metrics and simulated treatment outcome for prostate radiotherapy.

Roach D, Jameson MG, Dowling JA, Ebert MA, Greer PB, Kennedy AM, Watt S, Holloway LC.

Phys Med Biol. 2018 Jan 22;63(3):035001. doi: 10.1088/1361-6560/aaa50c.


An unusual onset of agminated Spitz naevi in an adult patient.

Adler NR, Kelly JW, Dowling JP, Saunders H, Mar VJ.

Clin Exp Dermatol. 2018 Apr;43(3):363-365. doi: 10.1111/ced.13343. Epub 2017 Dec 20. No abstract available.


Distant intracranial failure in melanoma brain metastases treated with stereotactic radiosurgery in the era of immunotherapy and targeted agents.

Acharya S, Mahmood M, Mullen D, Yang D, Tsien CI, Huang J, Perkins SM, Rich K, Chicoine M, Leuthardt E, Dowling J, Dunn G, Keller J, Robinson CG, Abraham C.

Adv Radiat Oncol. 2017 Aug 12;2(4):572-580. doi: 10.1016/j.adro.2017.07.003. eCollection 2017 Oct-Dec.


Discovery and Optimization of Pyrrolopyrimidine Inhibitors of Interleukin-1 Receptor Associated Kinase 4 (IRAK4) for the Treatment of Mutant MYD88L265P Diffuse Large B-Cell Lymphoma.

Scott JS, Degorce SL, Anjum R, Culshaw J, Davies RDM, Davies NL, Dillman KS, Dowling JE, Drew L, Ferguson AD, Groombridge SD, Halsall CT, Hudson JA, Lamont S, Lindsay NA, Marden SK, Mayo MF, Pease JE, Perkins DR, Pink JH, Robb GR, Rosen A, Shen M, McWhirter C, Wu D.

J Med Chem. 2017 Dec 28;60(24):10071-10091. doi: 10.1021/acs.jmedchem.7b01290. Epub 2017 Dec 11.


Building Bridges through Science.

Lissek T, Adams M, Adelman J, Ahissar E, Akaaboune M, Akil H, al'Absi M, Arain F, Arango-Lasprilla JC, Atasoy D, Avila J, Badawi A, Bading H, Baig AM, Baleriola J, Belmonte C, Bertocchi I, Betz H, Blakemore C, Blanke O, Boehm-Sturm P, Bonhoeffer T, Bonifazi P, Brose N, Campolongo P, Celikel T, Chang CC, Chang TY, Citri A, Cline HT, Cortes JM, Cullen K, Dean K, Delgado-Garcia JM, Desroches M, Disterhoft JF, Dowling JE, Draguhn A, El-Khamisy SF, El Manira A, Enam SA, Encinas JM, Erramuzpe A, Esteban JA, Fariñas I, Fischer E, Fukunaga I, Gabilondo I, Ganten D, Gidon A, Gomez-Esteban JC, Greengard P, Grinevich V, Gruart A, Guillemin R, Hariri AR, Hassan B, Häusser M, Hayashi Y, Hussain NK, Jabbar AA, Jaber M, Jahn R, Janahi EM, Kabbaj M, Kettenmann H, Kindt M, Knafo S, Köhr G, Komai S, Krugers H, Kuhn B, Ghazal NL, Larkum ME, London M, Lutz B, Matute C, Martinez-Millan L, Maroun M, McGaugh J, Moustafa AA, Nasim A, Nave KA, Neher E, Nikolich K, Outeiro T, Palmer LM, Penagarikano O, Perez-Otano I, Pfaff DW, Poucet B, Rahman AU, Ramos-Cabrer P, Rashidy-Pour A, Roberts RJ, Rodrigues S, Sanes JR, Schaefer AT, Segal M, Segev I, Shafqat S, Siddiqui NA, Soreq H, Soriano-García E, Spanagel R, Sprengel R, Stuart G, Südhof TC, Tønnesen J, Treviño M, Uthman BM, Venter JC, Verkhratsky A, Weiss C, Wiesel TN, Yaksi E, Yizhar O, Young LJ, Young P, Zawia NH, Zugaza JL, Hasan MT.

Neuron. 2017 Nov 15;96(4):730-735. doi: 10.1016/j.neuron.2017.09.028.


A study of the reactivity of S(VI)-F containing warheads with nucleophilic amino-acid side chains under physiological conditions.

Mukherjee H, Debreczeni J, Breed J, Tentarelli S, Aquila B, Dowling JE, Whitty A, Grimster NP.

Org Biomol Chem. 2017 Nov 22;15(45):9685-9695. doi: 10.1039/c7ob02028g.


PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D.

J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2.

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