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A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder.

Tangarorang J, Leonard H, Epstein A, Downs J.

Am J Med Genet A. 2018 Dec 18. doi: 10.1002/ajmg.a.61012. [Epub ahead of print]


Repression of Transcription at DNA Breaks Requires Cohesin throughout Interphase and Prevents Genome Instability.

Meisenberg C, Pinder SI, Hopkins SR, Wooller SK, Benstead-Hume G, Pearl FMG, Jeggo PA, Downs JA.

Mol Cell. 2018 Nov 28. pii: S1097-2765(18)30943-2. doi: 10.1016/j.molcel.2018.11.001. [Epub ahead of print]


Epidemiology of gastrostomy insertion for children and adolescents with intellectual disability.

Wong K, Leonard H, Pearson G, Glasson EJ, Forbes D, Ravikumara M, Jacoby P, Bourke J, Srasuebkul P, Trollor J, Wilson A, Nagarajan L, Downs J.

Eur J Pediatr. 2018 Dec 15. doi: 10.1007/s00431-018-3304-x. [Epub ahead of print]


Poor school attendance and exclusion: a systematic review protocol on educational risk factors for self-harm and suicidal behaviours.

Epstein S, Roberts E, Sedgwick R, Finning K, Ford T, Dutta R, Downs J.

BMJ Open. 2018 Dec 14;8(12):e023953. doi: 10.1136/bmjopen-2018-023953.


Oral health experiences of individuals with Rett syndrome: a retrospective study.

Lai YYL, Wong K, King NM, Downs J, Leonard H.

BMC Oral Health. 2018 Nov 29;18(1):195. doi: 10.1186/s12903-018-0651-y.


Refining Diagnosis of Schistosoma haematobium Infections: Antigen and Antibody Detection in Urine.

de Dood CJ, Hoekstra PT, Mngara J, Kalluvya SE, van Dam GJ, Downs JA, Corstjens PLAM.

Front Immunol. 2018 Nov 14;9:2635. doi: 10.3389/fimmu.2018.02635. eCollection 2018.


Clozapine and all-cause mortality in treatment-resistant schizophrenia: a historical cohort study.

Cho J, Hayes RD, Jewell A, Kadra G, Shetty H, MacCabe JH, Downs J.

Acta Psychiatr Scand. 2018 Nov 26. doi: 10.1111/acps.12989. [Epub ahead of print]


Psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) measure.

Downs J, Jacoby P, Leonard H, Epstein A, Murphy N, Davis E, Reddihough D, Whitehouse A, Williams K.

Qual Life Res. 2018 Nov 20. doi: 10.1007/s11136-018-2057-3. [Epub ahead of print]


Impact of biobanks on research outcomes in rare diseases: a systematic review.

Garcia M, Downs J, Russell A, Wang W.

Orphanet J Rare Dis. 2018 Nov 12;13(1):202. doi: 10.1186/s13023-018-0942-z.


An analysis of the literature addressing tonsillectomy knowledge gaps.

Cooper CM, Checketts JX, Brame L, Gray H, Downs JB, Vassar M.

Int J Pediatr Otorhinolaryngol. 2018 Dec;115:89-93. doi: 10.1016/j.ijporl.2018.09.027. Epub 2018 Sep 27.


Using clinical Natural Language Processing for health outcomes research: Overview and actionable suggestions for future advances.

Velupillai S, Suominen H, Liakata M, Roberts A, Shah AD, Morley K, Osborn D, Hayes J, Stewart R, Downs J, Chapman W, Dutta R.

J Biomed Inform. 2018 Dec;88:11-19. doi: 10.1016/j.jbi.2018.10.005. Epub 2018 Oct 24.


Gene Expression Differences in Host Response to Schistosoma haematobium Infection.

Dupnik KM, Reust MJ, Vick KM, Yao B, Miyaye D, Lyimo E, Mukerebe C, Mngara J, Kalluvya SE, de Dood CJ, Corstjens PLAM, van Dam GJ, Zhang T, Xiang J, Lee MH, Downs JA.

Infect Immun. 2018 Oct 15. pii: IAI.00291-18. doi: 10.1128/IAI.00291-18. [Epub ahead of print]


Facilitators and Barriers of Participation in "Uptime" Activities in Girls and Women With Rett Syndrome: Perspectives From Parents and Professionals.

Stahlhut M, Esbensen BA, Larsen JL, Bisgaard AM, Downs J, Nordmark E.

Qual Health Res. 2018 Oct 10:1049732318803358. doi: 10.1177/1049732318803358. [Epub ahead of print]


Risk of Developmental Disorders in Children of Immigrant Mothers: A Population-Based Data Linkage Evaluation.

Abdullahi I, Wong K, Mutch R, Glasson EJ, de Klerk N, Cherian S, Downs J, Leonard H.

J Pediatr. 2018 Oct 4. pii: S0022-3476(18)31221-6. doi: 10.1016/j.jpeds.2018.08.047. [Epub ahead of print]


An autologous dendritic cell vaccine polarizes a Th-1 response which is tumoricidal to patient-derived breast cancer cells.

Tomasicchio M, Semple L, Esmail A, Meldau R, Randall P, Pooran A, Davids M, Cairncross L, Anderson D, Downs J, Malherbe F, Novitzky N, Panieri E, Oelofse S, Londt R, Naiker T, Dheda K.

Cancer Immunol Immunother. 2018 Oct 3. doi: 10.1007/s00262-018-2238-5. [Epub ahead of print]


HIV-1 Viral Loads Are Not Elevated in Individuals Co-infected With Schistosoma spp. After Adjustment for Duration of HIV-1 Infection.

Colombe S, Corstjens PLAM, de Dood CJ, Miyaye D, Magawa RG, Mngara J, Kalluvya SE, van Lieshout L, van Dam GJ, Downs JA.

Front Immunol. 2018 Sep 6;9:2005. doi: 10.3389/fimmu.2018.02005. eCollection 2018.


Lumbopelvic-Hip Complex and Scapular Stabilizing Muscle Activations During Full-Body Exercises With and Without Resistance Bands.

Wasserberger KW, Downs JL, Barfield JW, Williams TK, Oliver GD.

J Strength Cond Res. 2018 Sep 12. doi: 10.1519/JSC.0000000000002842. [Epub ahead of print]


IOP, IOP Transient Impulse, Ocular Perfusion Pressure, and Mean Arterial Pressure Relationships in Nonhuman Primates Instrumented With Telemetry.

Markert JE, Jasien JV, Turner DC, Huisingh C, Girkin CA, Downs JC.

Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4496-4505. doi: 10.1167/iovs.18-23802.


Public Health Response to Imported Mumps Cases-Fort Campbell, Kentucky, 2018.

Downs JW.

US Army Med Dep J. 2018 Jan-Jun;(1-18):55-59.


Pre-post effects of a tetanus care protocol implementation in a sub-Saharan African intensive care unit.

Aziz R, Colombe S, Mwakisambwe G, Ndezi S, Todd J, Kalluvya S, Mangat HS, Magleby R, Koebler A, Kenemo B, Peck RN, Downs JA.

PLoS Negl Trop Dis. 2018 Aug 30;12(8):e0006667. doi: 10.1371/journal.pntd.0006667. eCollection 2018 Aug.


The Magnitude of Intraocular Pressure Elevation Associated with Eye Rubbing.

Turner DC, Girkin CA, Downs JC.

Ophthalmology. 2018 Aug 25. pii: S0161-6420(18)32175-4. doi: 10.1016/j.ophtha.2018.08.025. [Epub ahead of print] No abstract available.


Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorder.

Mori Y, Downs J, Wong K, Leonard H.

Eur Child Adolesc Psychiatry. 2018 Aug 27. doi: 10.1007/s00787-018-1214-0. [Epub ahead of print]


Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder.

Lim Z, Wong K, Downs J, Bebbington K, Demarest S, Leonard H.

Epilepsy Res. 2018 Oct;146:36-40. doi: 10.1016/j.eplepsyres.2018.07.013. Epub 2018 Jul 23.


A Novel Tree Shrew (Tupaia belangeri) Model of Glaucoma.

Samuels BC, Siegwart JT, Zhan W, Hethcox L, Chimento M, Whitley R, Downs JC, Girkin CA.

Invest Ophthalmol Vis Sci. 2018 Jun 1;59(7):3136-3143. doi: 10.1167/iovs.18-24261.


Impact of schistosome infection on long-term HIV/AIDS outcomes.

Colombe S, Machemba R, Mtenga B, Lutonja P, Kalluvya SE, de Dood CJ, Hoekstra PT, van Dam GJ, Corstjens PLAM, Urassa M, Changalucha JM, Todd J, Downs JA.

PLoS Negl Trop Dis. 2018 Jul 2;12(7):e0006613. doi: 10.1371/journal.pntd.0006613. eCollection 2018 Jul.


Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome: A Longitudinal Study of an Australian Population.

Wong K, Downs J, Ellaway C, Baikie G, Ravikumara M, Jacoby P, Christodoulou J, Elliott EJ, Leonard H.

J Pediatr. 2018 Sep;200:188-195.e1. doi: 10.1016/j.jpeds.2018.04.050. Epub 2018 Jun 23.


Detection of Suicidality in Adolescents with Autism Spectrum Disorders: Developing a Natural Language Processing Approach for Use in Electronic Health Records.

Downs J, Velupillai S, George G, Holden R, Kikoler M, Dean H, Fernandes A, Dutta R.

AMIA Annu Symp Proc. 2018 Apr 16;2017:641-649. eCollection 2017.


Evolving Trends of Gastrostomy Insertion Within a Pediatric Population.

Glasson EJ, Wong K, Leonard H, Forbes D, Ravikumara M, Mews C, Jacoby P, Bourke J, Trollor J, Srasuebkul P, Wilson A, Nagarajan L, Downs J.

J Pediatr Gastroenterol Nutr. 2018 Nov;67(5):e89-e94. doi: 10.1097/MPG.0000000000002042.


Validation of a Risk Index Model for Predicting Eastern Equine Encephalitis Virus Transmission to Horses in Florida.

Downs J, Vaziri M, Jenkins A, Unnasch T.

J Med Entomol. 2018 Aug 29;55(5):1143-1149. doi: 10.1093/jme/tjy067.


Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices.

Boban S, Leonard H, Wong K, Wilson A, Downs J.

Am J Med Genet A. 2018 Jul;176(7):1569-1577. doi: 10.1002/ajmg.a.38829. Epub 2018 Apr 28.


Schistosomiasis and hydration status: Schistosoma haematobium, but not Schistosoma mansoni increases urine specific gravity among rural Tanzanian women.

Rosinger AY, Young SL, Collins SM, Haider SR, Mishra P, Nagai HT, Petro M, Downs JA.

Am J Phys Anthropol. 2018 Aug;166(4):952-959. doi: 10.1002/ajpa.23479. Epub 2018 Apr 17.


Society for Translational Medicine Expert Consensus on the prevention and treatment of postoperative pulmonary infection in esophageal cancer patients.

Yu Z, Li S, Liu D, Liu L, He J, Huang Y, Xu S, Mao W, Tan Q, Chen C, Li X, Zhang Z, Jiang G, Xu L, Zhang L, Fu J, Li H, Wang Q, Tan L, Li D, Zhou Q, Fu X, Jiang Z, Chen H, Fang W, Zhang X, Li Y, Tong T, Liu Y, Zhi X, Yan T, Zhang X, Gong L, Zhang H, Downs JB, Villamizar N, Gao S, He J.

J Thorac Dis. 2018 Feb;10(2):1050-1057. doi: 10.21037/jtd.2018.01.34. Review. No abstract available.


Respiratory morbidity in Rett syndrome: an observational study.

MacKay J, Leonard H, Wong K, Wilson A, Downs J.

Dev Med Child Neurol. 2018 Sep;60(9):951-957. doi: 10.1111/dmcn.13726. Epub 2018 Mar 14.


Psychological consequences of child trafficking: An historical cohort study of trafficked children in contact with secondary mental health services.

Ottisova L, Smith P, Shetty H, Stahl D, Downs J, Oram S.

PLoS One. 2018 Mar 8;13(3):e0192321. doi: 10.1371/journal.pone.0192321. eCollection 2018.


Dried Blood Spot RNA Transcriptomes Correlate with Transcriptomes Derived from Whole Blood RNA.

Reust MJ, Lee MH, Xiang J, Zhang W, Xu D, Batson T, Zhang T, Downs JA, Dupnik KM.

Am J Trop Med Hyg. 2018 May;98(5):1541-1546. doi: 10.4269/ajtmh.17-0653. Epub 2018 Mar 1.


Decreased Sensitivity of Schistosoma sp. Egg Microscopy in Women and HIV-Infected Individuals.

Colombe S, Lee MH, Masikini PJ, van Lieshout L, de Dood CJ, Hoekstra PT, Corstjens PLAM, Mngara J, van Dam GJ, Downs JA.

Am J Trop Med Hyg. 2018 Apr;98(4):1159-1164. doi: 10.4269/ajtmh.17-0790. Epub 2018 Feb 1.


Negative Symptoms in Early-Onset Psychosis and Their Association With Antipsychotic Treatment Failure.

Downs J, Dean H, Lechler S, Sears N, Patel R, Shetty H, Hotopf M, Ford T, Kyriakopoulos M, Diaz-Caneja CM, Arango C, MacCabe JH, Hayes RD, Pina-Camacho L.

Schizophr Bull. 2019 Jan 1;45(1):69-79. doi: 10.1093/schbul/sbx197.


Parent-reported health-related quality of life of children with Down syndrome: a descriptive study.

Shields N, Leonard H, Munteanu S, Bourke J, Lim P, Taylor NF, Downs J.

Dev Med Child Neurol. 2018 Apr;60(4):402-408. doi: 10.1111/dmcn.13670. Epub 2018 Jan 23.


Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial.

Downs J, Rodger J, Li C, Tan X, Hu N, Wong K, de Klerk N, Leonard H.

Orphanet J Rare Dis. 2018 Jan 10;13(1):3. doi: 10.1186/s13023-017-0752-8.


CDKL5 variants: Improving our understanding of a rare neurologic disorder.

Hector RD, Kalscheuer VM, Hennig F, Leonard H, Downs J, Clarke A, Benke TA, Armstrong J, Pineda M, Bailey MES, Cobb SR.

Neurol Genet. 2017 Dec 15;3(6):e200. doi: 10.1212/NXG.0000000000000200. eCollection 2017 Dec.


The Magnitude and Time Course of IOP Change in Response to Body Position Change in Nonhuman Primates Measured Using Continuous IOP Telemetry.

Turner DC, Samuels BC, Huisingh C, Girkin CA, Downs JC.

Invest Ophthalmol Vis Sci. 2017 Dec 1;58(14):6232-6240. doi: 10.1167/iovs.17-22858.


The Society for Translational Medicine: clinical practice guidelines for the postoperative management of chest tube for patients undergoing lobectomy.

Gao S, Zhang Z, Aragón J, Brunelli A, Cassivi S, Chai Y, Chen C, Chen C, Chen G, Chen H, Chen JS, Cooke DT, Downs JB, Falcoz PE, Fang W, Filosso PL, Fu X, Force SD, Garutti MI, Gonzalez-Rivas D, Gossot D, Hansen HJ, He J, He J, Holbek BL, Hu J, Huang Y, Ibrahim M, Imperatori A, Ismail M, Jiang G, Jiang H, Jiang Z, Kim HK, Li D, Li G, Li H, Li Q, Li X, Li Y, Li Z, Lim E, Liu CC, Liu D, Liu L, Liu Y, Lobdell KW, Ma H, Mao W, Mao Y, Mou J, Ng CSH, Novoa NM, Petersen RH, Oizumi H, Papagiannopoulos K, Pompili C, Qiao G, Refai M, Rocco G, Ruffini E, Salati M, Seguin-Givelet A, Sihoe ADL, Tan L, Tan Q, Tong T, Tsakiridis K, Venuta F, Veronesi G, Villamizar N, Wang H, Wang Q, Wang R, Wang S, Wright GM, Xie D, Xue Q, Xue T, Xu L, Xu S, Xu S, Yan T, Yu F, Yu Z, Zhang C, Zhang L, Zhang T, Zhang X, Zhao X, Zhao X, Zhi X, Zhou Q.

J Thorac Dis. 2017 Sep;9(9):3255-3264. doi: 10.21037/jtd.2017.08.165. Review.


The Society for Translational Medicine: clinical practice guidelines for mechanical ventilation management for patients undergoing lobectomy.

Gao S, Zhang Z, Brunelli A, Chen C, Chen C, Chen G, Chen H, Chen JS, Cassivi S, Chai Y, Downs JB, Fang W, Fu X, Garutti MI, He J, He J, Hu J, Huang Y, Jiang G, Jiang H, Jiang Z, Li D, Li G, Li H, Li Q, Li X, Li Y, Li Z, Liu CC, Liu D, Liu L, Liu Y, Ma H, Mao W, Mao Y, Mou J, Ng CSH, Petersen RH, Qiao G, Rocco G, Ruffini E, Tan L, Tan Q, Tong T, Wang H, Wang Q, Wang R, Wang S, Xie D, Xue Q, Xue T, Xu L, Xu S, Xu S, Yan T, Yu F, Yu Z, Zhang C, Zhang L, Zhang T, Zhang X, Zhao X, Zhao X, Zhi X, Zhou Q.

J Thorac Dis. 2017 Sep;9(9):3246-3254. doi: 10.21037/jtd.2017.08.166. Review.


Sandfly fever in Afghanistan-a sometimes overlooked disease of military importance: a case series and review of the literature.

Downs JW, Flood DT, Orr NH, Constantineau JA, Caviness JW.

US Army Med Dep J. 2017 Oct-Dec;(3-17):60-66. Review.


Attitudes toward mandatory ignition interlocks for all offenders convicted of driving while intoxicated.

Downs J, Shults R, West B.

J Safety Res. 2017 Dec;63:99-103. doi: 10.1016/j.jsr.2017.08.002. Epub 2017 Aug 24.


Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability.

Mori Y, Downs J, Wong K, Heyworth J, Leonard H.

J Autism Dev Disord. 2018 May;48(5):1651-1665. doi: 10.1007/s10803-017-3420-x.


Hospital-Based Physicians' Intubation Decisions and Associated Mental Models when Managing a Critically and Terminally Ill Older Patient.

Haliko S, Downs J, Mohan D, Arnold R, Barnato AE.

Med Decis Making. 2018 Apr;38(3):344-354. doi: 10.1177/0272989X17738958. Epub 2017 Nov 22.


Tetanus in adult males, Bugando Medical Centre, United Republic of Tanzania.

Aziz R, Peck RN, Kalluvya S, Kenemo B, Chandika A, Downs JA.

Bull World Health Organ. 2017 Nov 1;95(11):779-783. doi: 10.2471/BLT.16.185546. Epub 2017 Oct 3.


Video Intervention to Increase Perceived Self-Efficacy for Condom Use in a Randomized Controlled Trial of Female Adolescents.

Downs JS, Ashcraft AM, Murray PJ, Berlan ED, Bruine de Bruin W, Eichner J, Fischhoff B, Leary JM, McCall RB, Miller E, Salaway J, Smith-Jones J, Sucato GS.

J Pediatr Adolesc Gynecol. 2018 Jun;31(3):291-298.e2. doi: 10.1016/j.jpag.2017.10.008. Epub 2017 Nov 7.

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