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Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.

Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, Harlan De Crescenzo A, Kotzaeridou U, Syrbe S, Anagnostou E, Azage M, Bend R, Begtrup A, Brown NJ, Büttner B, Cho MT, Cooper GM, Doering JH, Dubourg C, Everman DB, Hildebrand MS, Santos FJR, Kellam B, Keller-Ramey J, Lemke JR, Liu S, Niyazov D, Payne K, Person R, Quélin C, Schnur RE, Smith BT, Strober J, Walker S, Wallis M, Walsh L, Yang S, Yuen RKC, Ziegler A, Sticht H, Pride MC, Orosco L, Martínez-Cerdeño V, Silverman JL, Crawley JN, Scherer SW, Zarbalis KS, Jamra R.

Brain. 2019 Jul 20. pii: awz198. doi: 10.1093/brain/awz198. [Epub ahead of print]


Epidemiology of Large Bowel Carcinoid Tumors in the USA: A Population-Based National Study.

Lal P, Saleh MA, Khoudari G, Gad MM, Mansoor E, Isenberg G, Cooper GS.

Dig Dis Sci. 2019 Jul 12. doi: 10.1007/s10620-019-05725-0. [Epub ahead of print]


Development of outcome-specific criteria for study evaluation in systematic reviews of epidemiology studies.

Radke EG, Glenn B, Galizia A, Persad A, Nachman R, Bateson T, Wright JM, Navas-Acien A, Arroyave WD, Puett RC, Harville EW, Pollack AZ, Burns JS, Lynch CD, Sagiv SK, Stein C, Cooper GS.

Environ Int. 2019 Jul 9;130:104884. doi: 10.1016/j.envint.2019.05.078. [Epub ahead of print]


Systematic discovery of the functional impact of somatic genome alterations in individual tumors through tumor-specific causal inference.

Cai C, Cooper GF, Lu KN, Ma X, Xu S, Zhao Z, Chen X, Xue Y, Lee AV, Clark N, Chen V, Lu S, Chen L, Yu L, Hochheiser HS, Jiang X, Wang QJ, Lu X.

PLoS Comput Biol. 2019 Jul 5;15(7):e1007088. doi: 10.1371/journal.pcbi.1007088. [Epub ahead of print]


Tissue-Specific Sample Dilution: An Important Parameter to Optimise Prior to Untargeted LC-MS Metabolomics.

Wu ZE, Kruger MC, Cooper GJS, Poppitt SD, Fraser K.

Metabolites. 2019 Jun 27;9(7). pii: E124. doi: 10.3390/metabo9070124.


Dilution and microfiltration of particulate corticosteroids for spinal epidural injections: impact on drug concentration and agglomerate formation.

Alcántara Guardado A, Cooper G, Weightman A, Spiess R, Baker ADL.

Anaesthesia. 2019 Jun 22. doi: 10.1111/anae.14733. [Epub ahead of print]


Posterior quadratus lumborum block in the combat environment.

Dhanjal ST, Chow A, Nick CT, Cooper G.

Reg Anesth Pain Med. 2019 Jun 19. pii: rapm-2018-100136. doi: 10.1136/rapm-2018-100136. [Epub ahead of print] No abstract available.


Cerebral Vitamin B5 (D-Pantothenic Acid) Deficiency as a Potential Cause of Metabolic Perturbation and Neurodegeneration in Huntington's Disease.

Patassini S, Begley P, Xu J, Church SJ, Kureishy N, Reid SJ, Waldvogel HJ, Faull RLM, Snell RG, Unwin RD, Cooper GJS.

Metabolites. 2019 Jun 11;9(6). pii: E113. doi: 10.3390/metabo9060113.


Phthalate exposure and metabolic effects: a systematic review of the human epidemiological evidence.

Radke EG, Galizia A, Thayer KA, Cooper GS.

Environ Int. 2019 Jun 10:104768. doi: 10.1016/j.envint.2019.04.040. [Epub ahead of print] Review.


Evidence from plutonic xenoliths for magma differentiation, mixing and storage in a volatile-rich crystal mush beneath St. Eustatius, Lesser Antilles.

Cooper GF, Blundy JD, Macpherson CG, Humphreys MCS, Davidson JP.

Contrib Mineral Petrol. 2019;174(5):39. doi: 10.1007/s00410-019-1576-4. Epub 2019 May 6.


Epidemiology of Colorectal Cancer in Average Risk Adults 20-39 Years of Age: A Population-Based National Study.

Glover M, Mansoor E, Panhwar M, Parasa S, Cooper GS.

Dig Dis Sci. 2019 Jun 7. doi: 10.1007/s10620-019-05690-8. [Epub ahead of print]


Effect of acute modafinil ingestion on cognitive and physical performance following mental exertion.

Rattray B, Martin K, Hewitt A, Cooper G, McDonald W.

Hum Psychopharmacol. 2019 Jul;34(4):e2700. doi: 10.1002/hup.2700. Epub 2019 Jun 7.


A Modified Reach-to-Grasp Task in a Supine Position Shows Coordination Between Elbow and Hand Movements After Stroke.

Broome K, Hudson I, Potter K, Kulk J, Dunn A, Arm J, Zeffiro T, Cooper G, Tian H, van Vliet P.

Front Neurol. 2019 May 8;10:408. doi: 10.3389/fneur.2019.00408. eCollection 2019.


Interleukin-10 Does Not Augment Osseous Regeneration in the Scarred Calvarial Defect Achieved with Low-Dose Biopatterned BMP2.

Brooker JE, Bykowski MR, Camison L, Yerneni S, Campbell PG, Weiss L, Mooney MP, Cray JJ, Cooper GM, Losee JE.

Plast Reconstr Surg. 2019 Jun;143(6):1215e-1223e. doi: 10.1097/PRS.0000000000005640.


Development and validation of a model to predict outcomes of colon cancer surveillance.

Rose J, Homa L, Kong CY, Cooper GS, Kattan MW, Ermlich BO, Meyers JP, Primrose JN, Pugh SA, Shinkins B, Kim U, Meropol NJ.

Cancer Causes Control. 2019 Jul;30(7):767-778. doi: 10.1007/s10552-019-01187-x. Epub 2019 May 25.


Derivation, Validation, and Potential Treatment Implications of Novel Clinical Phenotypes for Sepsis.

Seymour CW, Kennedy JN, Wang S, Chang CH, Elliott CF, Xu Z, Berry S, Clermont G, Cooper G, Gomez H, Huang DT, Kellum JA, Mi Q, Opal SM, Talisa V, van der Poll T, Visweswaran S, Vodovotz Y, Weiss JC, Yealy DM, Yende S, Angus DC.

JAMA. 2019 May 19. doi: 10.1001/jama.2019.5791. [Epub ahead of print]


Complex Multimorbidity and Breast Cancer Screening Among Midlife and Older Women: The Role of Perceived Need.

Warner DF, Koroukian SM, Schiltz NK, Smyth KA, Cooper GS, Owusu C, Stange KC, Berger NA.

Gerontologist. 2019 May 17;59(Supplement_1):S77-S87. doi: 10.1093/geront/gny180.


A Comparison of Pediatric Traumatic Injuries on Farms and Residences from 2009 to 2014.

Cooper G, Zagel A, Nickel A, Ortega H.

J Rural Health. 2019 May 14. doi: 10.1111/jrh.12372. [Epub ahead of print]


Ethnic Differences in 90-Day Poststroke Medication Adherence.

Lank RJ, Lisabeth LD, Levine DA, Zahuranec DB, Kerber KA, Shafie-Khorassani F, Case E, Zuniga BG, Cooper GM, Brown DL, Morgenstern LB.

Stroke. 2019 Jun;50(6):1519-1524. doi: 10.1161/STROKEAHA.118.024249. Epub 2019 May 14.


A micromechanical muscle model for determining the impact of motor unit fiber clustering on force transmission in aging skeletal muscle.

Teklemariam A, Hodson-Tole E, Reeves ND, Cooper G.

Biomech Model Mechanobiol. 2019 May 2. doi: 10.1007/s10237-019-01152-2. [Epub ahead of print]


Prosthetic fungal infections: poor prognosis with bacterial co-infection.

Sidhu MS, Cooper G, Jenkins N, Jeys L, Parry M, Stevenson JD.

Bone Joint J. 2019 May;101-B(5):582-588. doi: 10.1302/0301-620X.101B5.BJJ-2018-1202.R1.


Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, Zhang X, Antonyan L, Nassif C, Ghaloul-Gonzalez L, Sebastian J, Vockley J, Begtrup AG, Wentzensen IM, Crunk A, Nicholls RD, Herman KC, Deignan JL, Al-Hertani W, Efthymiou S, Salpietro V, Miyake N, Makita Y, Matsumoto N, Østern R, Houge G, Hafström M, Fassi E, Houlden H, Klein Wassink-Ruiter JS, Nelson D, Goldstein A, Dabir T, van Gils J, Bourgeron T, Delorme R, Cooper GM, Martinez JE, Finnila CR, Carmant L, Lortie A, Oegema R, van Gassen K, Mehta SG, Huhle D, Abou Jamra R, Martin S, Brunner HG, Lindhout D, Au M, Graham JM Jr, Coubes C, Turecki G, Gravel S, Mechawar N, Rossignol E, Michaud JL, Lessard J, Ernst C, Campeau PM.

Am J Hum Genet. 2019 May 2;104(5):815-834. doi: 10.1016/j.ajhg.2019.03.022. Epub 2019 Apr 25.


Standardization of T1w/T2w Ratio Improves Detection of Tissue Damage in Multiple Sclerosis.

Cooper G, Finke C, Chien C, Brandt AU, Asseyer S, Ruprecht K, Bellmann-Strobl J, Paul F, Scheel M.

Front Neurol. 2019 Apr 9;10:334. doi: 10.3389/fneur.2019.00334. eCollection 2019.


A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway.

Popov IK, Hiatt SM, Whalen S, Keren B, Ruivenkamp C, van Haeringen A, Chen MJ, Cooper GM, Korf BR, Chang C.

Front Physiol. 2019 Apr 8;10:388. doi: 10.3389/fphys.2019.00388. eCollection 2019.


Glucoregulatory activity of vesiculin in insulin sensitive and resistant mice.

Lee KL, Aitken JF, Hsu HL, Williams GM, Brimble MA, Cooper GJS.

Peptides. 2019 Jun;116:1-7. doi: 10.1016/j.peptides.2019.04.011. Epub 2019 Apr 21.


Conformational isomers of trans-urocanic acid observed by rotational spectroscopy.

Cooper GA, Medcraft C, Gougoula E, Walker NR.

Phys Chem Chem Phys. 2019 May 8;21(18):9495-9503. doi: 10.1039/c9cp00651f.


Identifying the ingredients of hydrous arc magmas: insights from Mt Lamington, Papua New Guinea.

Humphreys MCS, Zhang J, Cooper GF, Macpherson CG, Ottley CJ.

Philos Trans A Math Phys Eng Sci. 2019 Feb 25;377(2139):20180018. doi: 10.1098/rsta.2018.0018.


Childhood multiple sclerosis is associated with reduced brain volumes at first clinical presentation and brain growth failure.

Bartels F, Nobis K, Cooper G, Wendel E, Cleaveland R, Bajer-Kornek B, Blaschek A, Schimmel M, Blankenburg M, Baumann M, Karenfort M, Finke C, Rostásy K.

Mult Scler. 2019 Jun;25(7):927-936. doi: 10.1177/1352458519829698. Epub 2019 Apr 4.


Evolutionary maintenance of genomic diversity within arbuscular mycorrhizal fungi.

Scott TW, Kiers ET, Cooper GA, Dos Santos M, West SA.

Ecol Evol. 2019 Feb 11;9(5):2425-2435. doi: 10.1002/ece3.4834. eCollection 2019 Mar.


Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

Hiatt SM, Thompson ML, Prokop JW, Lawlor JMJ, Gray DE, Bebin EM, Rinne T, Kempers M, Pfundt R, van Bon BW, Mignot C, Nava C, Depienne C, Kalsner L, Rauch A, Joset P, Bachmann-Gagescu R, Wentzensen IM, McWalter K, Cooper GM.

Am J Hum Genet. 2019 Apr 4;104(4):701-708. doi: 10.1016/j.ajhg.2019.02.002. Epub 2019 Mar 14.


Co-Design of a Consultation Audio-Recording Mobile App for People With Cancer: The SecondEars App.

Lipson-Smith R, White F, White A, Serong L, Cooper G, Price-Bell G, Hyatt A.

JMIR Form Res. 2019 Mar 12;3(1):e11111. doi: 10.2196/11111.


Tobacco Smoking and Dementia in a Kentucky Cohort: A Competing Risk Analysis.

Abner EL, Nelson PT, Jicha GA, Cooper GE, Fardo DW, Schmitt FA, Kryscio RJ.

J Alzheimers Dis. 2019;68(2):625-633. doi: 10.3233/JAD-181119.


Environmental control programs the emergence of distinct functional ensembles from unconstrained chemical reactions.

Surman AJ, Rodriguez-Garcia M, Abul-Haija YM, Cooper GJT, Gromski PS, Turk-MacLeod R, Mullin M, Mathis C, Walker SI, Cronin L.

Proc Natl Acad Sci U S A. 2019 Mar 19;116(12):5387-5392. doi: 10.1073/pnas.1813987116. Epub 2019 Mar 6.


Using Machine Learning to Predict the Information Seeking Behavior of Clinicians Using an Electronic Medical Record System.

King AJ, Cooper GF, Hochheiser H, Clermont G, Hauskrecht M, Visweswaran S.

AMIA Annu Symp Proc. 2018 Dec 5;2018:673-682. eCollection 2018.


Differences in antigenic structure of inactivated poliovaccines made from Sabin live-attenuated and wild-type poliovirus strains: impact on vaccine potency assays.

Crawt L, Atkinson E, Tedcastle A, Pegg E, Minor P, Cooper G, Rigsby P, Martin J; sIPV Study Group.

J Infect Dis. 2019 Feb 21. pii: jiz076. doi: 10.1093/infdis/jiz076. [Epub ahead of print]


Corrigendum to "Phthalate exposure and male reproductive outcomes: a systematic review of the human epidemiological evidence" [Environment International Volume 121, Part 1 (2018) 764-793].

Radke EG, Braun JM, Meeker JD, Cooper GS.

Environ Int. 2019 Apr;125:606-607. doi: 10.1016/j.envint.2019.02.046. No abstract available.


Instance-Specific Bayesian Network Structure Learning.

Jabbari F, Visweswaran S, Cooper GF.

Proc Mach Learn Res. 2018 Sep;72:169-180.


Cognitive bias research in forensic science: A systematic review.

Cooper GS, Meterko V.

Forensic Sci Int. 2019 Apr;297:35-46. doi: 10.1016/j.forsciint.2019.01.016. Epub 2019 Jan 22.


Regional protein expression in human Alzheimer's brain correlates with disease severity.

Xu J, Patassini S, Rustogi N, Riba-Garcia I, Hale BD, Phillips AM, Waldvogel H, Haines R, Bradbury P, Stevens A, Faull RLM, Dowsey AW, Cooper GJS, Unwin RD.

Commun Biol. 2019 Feb 4;2:43. doi: 10.1038/s42003-018-0254-9. eCollection 2019.


A review of the application of hollow-fiber liquid-phase microextraction in bioanalytical methods - A systematic approach with focus on forensic toxicology.

Venson R, Korb AS, Cooper G.

J Chromatogr B Analyt Technol Biomed Life Sci. 2019 Feb 15;1108:32-53. doi: 10.1016/j.jchromb.2019.01.006. Epub 2019 Jan 17. Review.


Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.

Hart MR, Biesecker BB, Blout CL, Christensen KD, Amendola LM, Bergstrom KL, Biswas S, Bowling KM, Brothers KB, Conlin LK, Cooper GM, Dulik MC, East KM, Everett JN, Finnila CR, Ghazani AA, Gilmore MJ, Goddard KAB, Jarvik GP, Johnston JJ, Kauffman TL, Kelley WV, Krier JB, Lewis KL, McGuire AL, McMullen C, Ou J, Plon SE, Rehm HL, Richards CS, Romasko EJ, Sagardia AM, Spinner NB, Thompson ML, Turbitt E, Vassy JL, Wilfond BS, Veenstra DL, Berg JS, Green RC, Biesecker LG, Hindorff LA.

Genet Med. 2019 May;21(5):1261-1262. doi: 10.1038/s41436-019-0440-2.


Surgical approach and the impact of epidural analgesia on survival after esophagectomy for cancer: A population-based retrospective cohort study.

Cummings Iii KC, Kou TD, Chak A, Schluchter MD, Margevicius S, Cooper GS, Meropol NJ, Perry Y, Linden PA, Cummings LC.

PLoS One. 2019 Jan 22;14(1):e0211125. doi: 10.1371/journal.pone.0211125. eCollection 2019. Erratum in: PLoS One. 2019 Mar 21;14(3):e0214528.


Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.

Zweier M, Begemann A, McWalter K, Cho MT, Abela L, Banka S, Behring B, Berger A, Brown CW, Carneiro M, Chen J, Cooper GM; Deciphering Developmental Disorders (DDD) Study, Finnila CR, Guillen Sacoto MJ, Henderson A, Hüffmeier U, Joset P, Kerr B, Lesca G, Leszinski GS, McDermott JH, Meltzer MR, Monaghan KG, Mostafavi R, Õunap K, Plecko B, Powis Z, Purcarin G, Reimand T, Riedhammer KM, Schreiber JM, Sirsi D, Wierenga KJ, Wojcik MH, Papuc SM, Steindl K, Sticht H, Rauch A.

Eur J Hum Genet. 2019 May;27(5):747-759. doi: 10.1038/s41431-018-0331-z. Epub 2019 Jan 21.


Ecological health assessment of a coastal ecosystem: Case study of the largest brackish water lagoon of Asia.

Barik SK, Bramha S, Behera D, Bastia TK, Cooper G, Rath P.

Mar Pollut Bull. 2019 Jan;138:352-363. doi: 10.1016/j.marpolbul.2018.11.056. Epub 2018 Nov 29.


ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M; Deciphering Developmental Disorders Study; University of Washington Center for Mendelian Genomics, Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S.

Am J Hum Genet. 2019 Feb 7;104(2):319-330. doi: 10.1016/j.ajhg.2018.12.007. Epub 2019 Jan 10.


Deoxyribose and deoxysugar derivatives from photoprocessed astrophysical ice analogues and comparison to meteorites.

Nuevo M, Cooper G, Sandford SA.

Nat Commun. 2018 Dec 18;9(1):5276. doi: 10.1038/s41467-018-07693-x.


Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia.

Claassen D, Boals M, Bowling KM, Cooper GM, Cox J, Hershfield M, Lewis S, Wlodarski M, Weiss MJ, Estepp JH.

Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6). pii: a003384. doi: 10.1101/mcs.a003384. Print 2018 Dec.


Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.

Carvill GL, Engel KL, Ramamurthy A, Cochran JN, Roovers J, Stamberger H, Lim N, Schneider AL, Hollingsworth G, Holder DH, Regan BM, Lawlor J, Lagae L, Ceulemans B, Bebin EM, Nguyen J; EuroEPINOMICS Rare Epilepsy Syndrome, Myoclonic-Astatic Epilepsy, and Dravet Working Group, Barsh GS, Weckhuysen S, Meisler M, Berkovic SF, De Jonghe P, Scheffer IE, Myers RM, Cooper GM, Mefford HC.

Am J Hum Genet. 2018 Dec 6;103(6):1022-1029. doi: 10.1016/j.ajhg.2018.10.023.


Risk of Myocardial Infarction in Inflammatory Bowel Disease: A Population-based National Study.

Panhwar MS, Mansoor E, Al-Kindi SG, Sinh P, Katz J, Oliveira GH, Cooper GS, Ginwalla M.

Inflamm Bowel Dis. 2019 May 4;25(6):1080-1087. doi: 10.1093/ibd/izy354.


De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.

Hiatt SM, Neu MB, Ramaker RC, Hardigan AA, Prokop JW, Hancarova M, Prchalova D, Havlovicova M, Prchal J, Stranecky V, Yim DKC, Powis Z, Keren B, Nava C, Mignot C, Rio M, Revah-Politi A, Hemati P, Stong N, Iglesias AD, Suchy SF, Willaert R, Wentzensen IM, Wheeler PG, Brick L, Kozenko M, Hurst ACE, Wheless JW, Lacassie Y, Myers RM, Barsh GS, Sedlacek Z, Cooper GM.

PLoS Genet. 2018 Nov 30;14(11):e1007671. doi: 10.1371/journal.pgen.1007671. eCollection 2018 Nov.

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