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A functional substitution in the L-aromatic amino acid decarboxylase enzyme worsens somatic symptoms via a serotonergic pathway.

Khoury S, Piltonen MH, Ton AT, Cole T, Samoshkin A, Smith SB, Belfer I, Slade GD, Fillingim RB, Greenspan JD, Ohrbach R, Maixner W, Neely GG, Serohijos AWR, Diatchenko L.

Ann Neurol. 2019 Jun 8. doi: 10.1002/ana.25521. [Epub ahead of print]


Steady Growth in Early Infancy Is Associated with Greater Anthropometry in Indian Children Born Low Birth Weight at Term.

Filteau S, Kumar GT, Cole TJ, Sachdev HS, De Stavola BL.

J Nutr. 2019 Jun 8. pii: nxz113. doi: 10.1093/jn/nxz113. [Epub ahead of print]


Use of TCR α+β+/CD19+-Depleted Haploidentical Hematopoietic Stem Cell Transplant Is a Viable Option in Patients With Primary Immune Deficiency Without Matched Sibling Donor.

Brettig T, Smart J, Choo S, Mechinaud F, Mitchell R, Raj TS, Cole T.

J Clin Immunol. 2019 Jun 6. doi: 10.1007/s10875-019-00648-x. [Epub ahead of print]


Relating weight growth trajectory to height and age.

Cole TJ.

Stat Med. 2019 Jul 10;38(15):2901-2902. doi: 10.1002/sim.8109. No abstract available.


Validation of in vitro methods for human cytochrome P450 enzyme induction: Outcome of a multi-laboratory study.

Bernasconi C, Pelkonen O, Andersson TB, Strickland J, Wilk-Zasadna I, Asturiol D, Cole T, Liska R, Worth A, Müller-Vieira U, Richert L, Chesne C, Coecke S.

Toxicol In Vitro. 2019 May 31;60:212-228. doi: 10.1016/j.tiv.2019.05.019. [Epub ahead of print]


The science of steroids.

Cole TJ, Short KL, Hooper SB.

Semin Fetal Neonatal Med. 2019 May 23. pii: S1744-165X(19)30043-5. doi: 10.1016/j.siny.2019.05.005. [Epub ahead of print]


Initial Validation of IBD KNOW-IT: Measuring Patient and Caregiver Knowledge of a Child's Disease and Treatment Regimen.

Maddux M, Gordy A, Schurman C, Cole T, Staggs V.

J Clin Psychol Med Settings. 2019 May 29. doi: 10.1007/s10880-019-09636-0. [Epub ahead of print]


Rare thyroid transcription factor 1-positive tumors of the sellar region: Barrow Neurological Institute retrospective case series.

Cole TS, Potla S, Sarris CE, Przybylowski CJ, Baranoski JF, Mooney MA, Barranco FD, White WL, Eschbacher JM, Little AS.

World Neurosurg. 2019 May 24. pii: S1878-8750(19)31409-3. doi: 10.1016/j.wneu.2019.05.132. [Epub ahead of print]


Hypothalamic Reproductive Endocrine Pulse Generator Activity Independent of Neurokinin B and Dynorphin Signaling.

Lippincott MF, León S, Chan YM, Fergani C, Talbi R, Farooqi IS, Jones CM, Arlt W, Stewart SE, Cole TR, Terasawa E, Hall JE, Shaw ND, Navarro VM, Seminara SB.

J Clin Endocrinol Metab. 2019 May 27. pii: jc.2019-00146. doi: 10.1210/jc.2019-00146. [Epub ahead of print]


Identification of betamethasone regulated target genes and cell pathways in fetal rat lung mesenchymal fibroblasts.

Seow BKL, McDougall ARA, Short KL, Wallace MJ, Hooper SB, Cole TJ.

Endocrinology. 2019 May 20. pii: en.2018-01071. doi: 10.1210/en.2018-01071. [Epub ahead of print]


Life course associations of height, weight, fatness, grip strength, and all-cause mortality for high socioeconomic status Guatemalans.

Mansukoski L, Johnson W, Brooke-Wavell K, Galvez-Sobral JA, Furlan L, Cole TJ, Bogin B.

Am J Hum Biol. 2019 May 15:e23253. doi: 10.1002/ajhb.23253. [Epub ahead of print]


Consent, wantedness, and pleasure: Three dimensions affecting the perceived stress of and judgements of rape in sexual encounters.

Hills PJ, Seib E, Pleva M, Smythe J, Gosling MR, Cole T.

J Exp Psychol Appl. 2019 Apr 29. doi: 10.1037/xap0000221. [Epub ahead of print]


Additive traits lead to feeding advantage and reproductive isolation, promoting homoploid hybrid speciation.

Masello JF, Quillfeldt P, Sandoval-Castellanos E, Alderman R, Calderón L, Cherel Y, Cole TL, Cuthbert RJ, Marin M, Massaro M, Navarro J, Phillips RA, Ryan PG, Shepherd LD, Suazo CG, Weimerskirch H, Moodley Y.

Mol Biol Evol. 2019 Apr 26. pii: msz090. doi: 10.1093/molbev/msz090. [Epub ahead of print]


Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients.

Pillay BA, Avery DT, Smart JM, Cole T, Choo S, Chan D, Gray PE, Frith K, Mitchell R, Phan TG, Wong M, Campbell DE, Hsu P, Ziegler JB, Peake J, Alvaro F, Picard C, Bustamante J, Neven B, Cant AJ, Uzel G, Arkwright PD, Casanova JL, Su HC, Freeman AF, Shah N, Hickstein DD, Tangye SG, Ma CS.

JCI Insight. 2019 Apr 25;5. pii: 127527. doi: 10.1172/jci.insight.127527.


Addition of an Intimate Partner Violence Intervention to a Nurse Home Visitation Program.

Grennan D, Cole TB.

JAMA. 2019 Apr 23;321(16):1586. doi: 10.1001/jama.2019.3712. No abstract available.


Bifrontal approach for clip ligation of bilateral ethmoidal dural arteriovenous fistulas: operative video.

Cole TS, Gandhi S, Mascitelli JR, Hardesty D, Cavallo C, Lawton MT.

Neurosurg Focus. 2019 Apr 1;46(Suppl_2):V14. doi: 10.3171/2019.2.FocusVid.18702.


Opioid-galanin receptor heteromers mediate the dopaminergic effects of opioids.

Cai NS, Quiroz C, Bonaventura J, Bonifazi A, Cole TO, Purks J, Billing AS, Massey E, Wagner M, Wish ED, Guitart X, Rea W, Lam S, Moreno E, Casadó-Anguera V, Greenblatt AD, Jacobson AE, Rice KC, Casadó V, Newman AH, Winkelman JW, Michaelides M, Weintraub E, Volkow ND, Belcher AM, Ferré S.

J Clin Invest. 2019 Mar 26;130. pii: 126912. doi: 10.1172/JCI126912.


Genomic Characterization of Candidate Division LCP-89 Reveals an Atypical Cell Wall Structure, Microcompartment Production, and Dual Respiratory and Fermentative Capacities.

Youssef NH, Farag IF, Hahn CR, Jarett J, Becraft E, Eloe-Fadrosh E, Lightfoot J, Bourgeois A, Cole T, Ferrante S, Truelock M, Marsh W, Jamaleddine M, Ricketts S, Simpson R, McFadden A, Hoff W, Ravin NV, Sievert S, Stepanauskas R, Woyke T, Elshahed M.

Appl Environ Microbiol. 2019 May 2;85(10). pii: e00110-19. doi: 10.1128/AEM.00110-19. Print 2019 May 15.


Identification of new Wilms tumour predisposition genes: an exome sequencing study.

Mahamdallie S, Yost S, Poyastro-Pearson E, Holt E, Zachariou A, Seal S, Elliott A, Clarke M, Warren-Perry M, Hanks S, Anderson J, Bomken S, Cole T, Farah R, Furtwaengler R, Glaser A, Grundy R, Hayden J, Lowis S, Millot F, Nicholson J, Ronghe M, Skeen J, Williams D, Yeomanson D, Ruark E, Rahman N.

Lancet Child Adolesc Health. 2019 May;3(5):322-331. doi: 10.1016/S2352-4642(19)30018-5. Epub 2019 Mar 16.


Ecogeographic patterns in fetal limb proportions.

Waxenbaum EB, Warren MW, Holliday TW, Byrd JE, Cole TM 3rd.

Am J Phys Anthropol. 2019 May;169(1):93-103. doi: 10.1002/ajpa.23814. Epub 2019 Mar 8.


Body composition reference charts for UK infants and children aged 6 weeks to 5 years based on measurement of total body water by isotope dilution.

Wells JCK, Davies PSW, Fewtrell MS, Cole TJ.

Eur J Clin Nutr. 2019 Feb 26. doi: 10.1038/s41430-019-0409-x. [Epub ahead of print]


Use of a wrist-mounted device for continuous outpatient physiologic monitoring after transsphenoidal surgery: a pilot study.

Cole TS, Jahnke H, Godzik J, Morgan CD, Nakaji P, Little AS.

Pituitary. 2019 Apr;22(2):156-162. doi: 10.1007/s11102-019-00946-y.


EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome.

Griffiths S, Loveday C, Zachariou A, Behan LA, Chandler K, Cole T, D'Arrigo S, Dieckmann A, Foster A, Gibney J, Hunter M, Milani D, Pantaleoni C, Roche E, Sherlock M, Springer A, White SM; Childhood Overgrowth Collaboration, Tatton-Brown K.

Am J Med Genet A. 2019 Apr;179(4):588-594. doi: 10.1002/ajmg.a.61066. Epub 2019 Feb 21.


Non-invasive diagnosis of retinoblastoma using cell-free DNA from aqueous humour.

Gerrish A, Stone E, Clokie S, Ainsworth JR, Jenkinson H, McCalla M, Hitchcott C, Colmenero I, Allen S, Parulekar M, Cole T.

Br J Ophthalmol. 2019 Feb 11. pii: bjophthalmol-2018-313005. doi: 10.1136/bjophthalmol-2018-313005. [Epub ahead of print]


Is Hard Failure Still a Common Indication for Revision Surgery in Adult Cochlear Implant Recipients?

Stevens SM, Dougherty H, Wenstrup L, Hammer T, Cole T, Redmann A, Pensak ML, Samy RN.

Otol Neurotol. 2019 Mar;40(3):321-327. doi: 10.1097/MAO.0000000000002118.


Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells.

Bier J, Rao G, Payne K, Brigden H, French E, Pelham SJ, Lau A, Lenthall H, Edwards ESJ, Smart JM, Cole TS, Choo S, Joshi AY, Abraham RS, O'Sullivan M, Boztug K, Meyts I, Gray PE, Berglund LJ, Hsu P, Wong M, Holland SM, Notarangelo LD, Uzel G, Ma CS, Brink R, Tangye SG, Deenick EK.

J Allergy Clin Immunol. 2019 Feb 6. pii: S0091-6749(19)30192-7. doi: 10.1016/j.jaci.2019.01.033. [Epub ahead of print]


Mitogenomes Uncover Extinct Penguin Taxa and Reveal Island Formation as a Key Driver of Speciation.

Cole TL, Ksepka DT, Mitchell KJ, Tennyson AJD, Thomas DB, Pan H, Zhang G, Rawlence NJ, Wood JR, Bover P, Bouzat JL, Cooper A, Fiddaman SR, Hart T, Miller G, Ryan PG, Shepherd LD, Wilmshurst JM, Waters JM.

Mol Biol Evol. 2019 Apr 1;36(4):784-797. doi: 10.1093/molbev/msz017.


A discussion of statistical methods to characterise early growth and its impact on bone mineral content later in childhood.

Crozier SR, Johnson W, Cole TJ, Macdonald-Wallis C, Muniz-Terrera G, Inskip HM, Tilling K.

Ann Hum Biol. 2019 Feb;46(1):17-26. doi: 10.1080/03014460.2019.1574896. Epub 2019 Apr 15.


Multiscale climate change impacts on plant diversity in the Atacama Desert.

Díaz FP, Latorre C, Carrasco-Puga G, Wood JR, Wilmshurst JM, Soto DC, Cole TL, Gutiérrez RA.

Glob Chang Biol. 2019 May;25(5):1733-1745. doi: 10.1111/gcb.14583. Epub 2019 Feb 25.


Complications for minimally invasive lateral interbody arthrodesis: a systematic review and meta-analysis comparing prepsoas and transpsoas approaches.

Walker CT, Farber SH, Cole TS, Xu DS, Godzik J, Whiting AC, Hartman C, Porter RW, Turner JD, Uribe J.

J Neurosurg Spine. 2019 Jan 25:1-15. doi: 10.3171/2018.9.SPINE18800. [Epub ahead of print] Review.


Prenatal and early life diesel exhaust exposure disrupts cortical lamina organization: Evidence for a reelin-related pathogenic pathway induced by interleukin-6.

Chang YC, Daza R, Hevner R, Costa LG, Cole TB.

Brain Behav Immun. 2019 May;78:105-115. doi: 10.1016/j.bbi.2019.01.013. Epub 2019 Jan 19.


Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).

Hughes LA, McKay Bounford K, Webb E, Dasani P, Clokie S, Chandran H, McCarthy L, Mohamed Z, Kirk JMW, Krone N, Allen S, Cole T.

Endocr Connect. 2019 Jan 1. pii: EC-18-0376.R1. doi: 10.1530/EC-18-0376. [Epub ahead of print]


Low-frequency variation in TP53 has large effects on head circumference and intracranial volume.

Haworth S, Shapland CY, Hayward C, Prins BP, Felix JF, Medina-Gomez C, Rivadeneira F, Wang C, Ahluwalia TS, Vrijheid M, Guxens M, Sunyer J, Tachmazidou I, Walter K, Iotchkova V, Jackson A, Cleal L, Huffmann J, Min JL, Sass L, Timmers PRHJ; UK10K consortium, Davey Smith G, Fisher SE, Wilson JF, Cole TJ, Fernandez-Orth D, Bønnelykke K, Bisgaard H, Pennell CE, Jaddoe VWV, Dedoussis G, Timpson N, Zeggini E, Vitart V, St Pourcain B.

Nat Commun. 2019 Jan 21;10(1):357. doi: 10.1038/s41467-018-07863-x.


Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Tatton-Brown K, Hanks S, Ruark E, Zachariou A, Del Vecchio Duarte S, Ramsay E, Snape K, Murray A, Perdeaux ER, Seal S, Loveday C, Banka S, Clericuzio C, Flinter F, Magee A, McConnell V, Patton M, Raith W, Rankin J, Splitt M, Strenger V, Taylor C, Wheeler P, Temple IK, Cole T; Childhood Overgrowth Collaboration, Douglas J, Rahman N.

Oncotarget. 2018 Nov 30;9(94):36719. doi: 10.18632/oncotarget.26429. eCollection 2018 Nov 30.


Cd(II)- and Pb(II)-Induced Self-Assembly of Peripheral Membrane Domains from Protein Kinase C.

Cole TR, Erickson SG, Morales KA, Sung M, Holzenburg A, Igumenova TI.

Biochemistry. 2019 Feb 12;58(6):509-513. doi: 10.1021/acs.biochem.8b01235. Epub 2018 Dec 28.


External Validation of the Subarachnoid Hemorrhage International Trialists (SAHIT) Predictive Model Using the Barrow-Ruptured Aneurysm Trial (BRAT) Cohort.

Mascitelli JR, Cole T, Yoon S, Nakaji P, Albuquerque FC, McDougall CG, Zabramski JM, Lawton MT, Spetzler RF.

Neurosurgery. 2018 Dec 19. doi: 10.1093/neuros/nyy600. [Epub ahead of print]


Protein production is an early biomarker for RNA-targeted therapies.

Self WK, Schoch KM, Alex J, Barthélemy N, Bollinger JG, Sato C, Cole T, Kordasiewicz HB, Swayze E, Bateman RJ, Miller TM.

Ann Clin Transl Neurol. 2018 Oct 14;5(12):1492-1504. doi: 10.1002/acn3.657. eCollection 2018 Dec.


Radiosurgery for multiple sclerosis-related trigeminal neuralgia: retrospective review of long-term outcomes.

Przybylowski CJ, Cole TS, Baranoski JF, Little AS, Smith KA, Shetter AG.

J Neurosurg. 2018 Nov 1:1-8. doi: 10.3171/2018.5.JNS173194. [Epub ahead of print]


Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.

Sanchis-Juan A, Stephens J, French CE, Gleadall N, Mégy K, Penkett C, Shamardina O, Stirrups K, Delon I, Dewhurst E, Dolling H, Erwood M, Grozeva D, Stefanucci L, Arno G, Webster AR, Cole T, Austin T, Branco RG, Ouwehand WH, Raymond FL, Carss KJ.

Genome Med. 2018 Dec 7;10(1):95. doi: 10.1186/s13073-018-0606-6.


Does eloquence subtype influence outcome following arteriovenous malformation surgery?

Mascitelli JR, Yoon S, Cole TS, Kim H, Lawton MT.

J Neurosurg. 2018 Oct 1:1-8. doi: 10.3171/2018.4.JNS18403. [Epub ahead of print]


EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.

Pathak SJ, Mueller JL, Okamoto K, Das B, Hertecant J, Greenhalgh L, Cole T, Pinsk V, Yerushalmi B, Gurkan OE, Yourshaw M, Hernandez E, Oesterreicher S, Naik S, Sanderson IR, Axelsson I, Agardh D, Boland CR, Martin MG, Putnam CD, Sivagnanam M.

Hum Mutat. 2019 Feb;40(2):142-161. doi: 10.1002/humu.23688. Epub 2018 Nov 29.


Continuous Activity Tracking Using a Wrist-Mounted Device in Adult Spinal Deformity: A Proof of Concept Study.

Haglin JM, Godzik J, Mauria R, Cole TS, Walker CT, Kakarla U, Uribe JS, Turner JD.

World Neurosurg. 2019 Feb;122:349-354. doi: 10.1016/j.wneu.2018.10.235. Epub 2018 Nov 12.


High-throughput Measurement of Gut Transit Time Using Larval Zebrafish.

Cassar S, Huang X, Cole T.

J Vis Exp. 2018 Oct 23;(140). doi: 10.3791/58497.


Metabolic rate of major organs and tissues in young adult South Asian women.

Shirley MK, Arthurs OJ, Seunarine KK, Cole TJ, Eaton S, Williams JE, Clark CA, Wells JCK.

Eur J Clin Nutr. 2018 Nov 7. doi: 10.1038/s41430-018-0362-0. [Epub ahead of print]


Ancient DNA of crested penguins: Testing for temporal genetic shifts in the world's most diverse penguin clade.

Cole TL, Rawlence NJ, Dussex N, Ellenberg U, Houston DM, Mattern T, Miskelly CM, Morrison KW, Scofield RP, Tennyson AJD, Thompson DR, Wood JR, Waters JM.

Mol Phylogenet Evol. 2019 Feb;131:72-79. doi: 10.1016/j.ympev.2018.10.025. Epub 2018 Oct 25.


Quality and readability of online information about type 2 diabetes and nutrition.

Bernard S, Cooke T, Cole T, Hachani L, Bernard J.

JAAPA. 2018 Nov;31(11):41-44. doi: 10.1097/01.JAA.0000546481.02560.4e.


Does the age at adiposity rebound reflect a critical period?

Rolland-Cachera MF, Cole TJ.

Pediatr Obes. 2019 Jan;14(1). doi: 10.1111/ijpo.12467. Epub 2018 Sep 25. No abstract available.


Glucocorticoids influence versican and chondroitin sulphate proteoglycan levels in the fetal sheep lung.

McDougall ARA, Fosang AJ, Faggian J, Wallace MJ, Crossley KJ, Cole TJ, Hooper SB.

Respir Res. 2018 Aug 20;19(1):155. doi: 10.1186/s12931-018-0854-4.


Kawase Approach for Dolichoectactic Basilar Artery Macrovascular Decompression in a Patient With Trigeminal Neuralgia: Case Report.

Yoon S, Mascitelli JR, Mooney MA, Gandhi S, Chen T, Cole TS, Lawton MT.

Oper Neurosurg (Hagerstown). 2019 Jun 1;16(6):E178-E183. doi: 10.1093/ons/opy215.


Combined Skin and Muscle DNA Priming Provides Enhanced Humoral Responses to a Human Immunodeficency Virus Type 1 Clade C Envelope Vaccine.

Cheeseman HM, Day S, McFarlane LR, Fleck S, Miller A, Cole T, Sousa-Santos N, Cope A, Cizmeci D, Tolazzi M, Hwekwete E, Hannaman D, Kratochvil S, McKay PF, Chung AW, Kent SJ, Cook A, Scarlatti G, Abraham S, Combadiere B, McCormack S, Lewis DJ, Shattock RJ.

Hum Gene Ther. 2018 Sep;29(9):1011-1028. doi: 10.1089/hum.2018.075.

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