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Items: 1 to 50 of 511

1.

A Pilot Digital Intervention Targeting Loneliness in Youth Mental Health.

Lim MH, Rodebaugh TL, Eres R, Long KM, Penn DL, Gleeson JFM.

Front Psychiatry. 2019 Aug 23;10:604. doi: 10.3389/fpsyt.2019.00604. eCollection 2019.

2.

Emergence of power laws in noncritical neuronal systems.

Faqeeh A, Osat S, Radicchi F, Gleeson JP.

Phys Rev E. 2019 Jul;100(1-1):010401. doi: 10.1103/PhysRevE.100.010401.

PMID:
31499795
3.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Avella AB, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS.

Am J Hum Genet. 2019 Aug 28. pii: S0002-9297(19)30309-X. doi: 10.1016/j.ajhg.2019.08.006. [Epub ahead of print]

PMID:
31495489
4.

Modeling individual differences in emotion regulation repertoire in daily life with multilevel latent profile analysis.

Grommisch G, Koval P, Hinton JDX, Gleeson J, Hollenstein T, Kuppens P, Lischetzke T.

Emotion. 2019 Sep 2. doi: 10.1037/emo0000669. [Epub ahead of print]

PMID:
31478725
5.

Development of a Moderated Online Intervention to Treat Social Anxiety in First-Episode Psychosis.

McEnery C, Lim MH, Knowles A, Rice S, Gleeson J, Howell S, Russon P, Miles C, D'Alfonso S, Alvarez-Jimenez M.

Front Psychiatry. 2019 Aug 14;10:581. doi: 10.3389/fpsyt.2019.00581. eCollection 2019.

6.

Redefining the Etiologic Landscape of Cerebellar Malformations.

Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB.

Am J Hum Genet. 2019 Sep 5;105(3):606-615. doi: 10.1016/j.ajhg.2019.07.019. Epub 2019 Aug 29.

PMID:
31474318
7.

Striving Towards the Perfect In Vitro Oral Drug Absorption Model.

Gleeson JP, McCartney F.

Trends Pharmacol Sci. 2019 Aug 16. pii: S0165-6147(19)30162-2. doi: 10.1016/j.tips.2019.07.010. [Epub ahead of print]

PMID:
31422894
8.

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.

van Karnebeek CDM, Ramos RJ, Wen XY, Tarailo-Graovac M, Gleeson JG, Skrypnyk C, Brand-Arzamendi K, Karbassi F, Issa MY, van der Lee R, Drögemöller BI, Koster J, Rousseau J, Campeau PM, Wang Y, Cao F, Li M, Ruiter J, Ciapaite J, Kluijtmans LAJ, Willemsen MAAP, Jans JJ, Ross CJ, Wintjes LT, Rodenburg RJ, Huigen MCDG, Jia Z, Waterham HR, Wasserman WW, Wanders RJA, Verhoeven-Duif NM, Zaki MS, Wevers RA.

Am J Hum Genet. 2019 Sep 5;105(3):534-548. doi: 10.1016/j.ajhg.2019.07.015. Epub 2019 Aug 15.

PMID:
31422819
9.

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.

De Mori R, Severino M, Mancardi MM, Anello D, Tardivo S, Biagini T, Capra V, Casella A, Cereda C, Copeland BR, Gagliardi S, Gamucci A, Ginevrino M, Illi B, Lorefice E, Musaev D, Stanley V, Micalizzi A, Gleeson JG, Mazza T, Rossi A, Valente EM.

Brain. 2019 Aug 14. pii: awz247. doi: 10.1093/brain/awz247. [Epub ahead of print]

PMID:
31412107
10.

Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.

Pelorosso C, Watrin F, Conti V, Buhler E, Gelot A, Yang X, Mei D, McEvoy-Venneri J, Manent JB, Cetica V, Ball LL, Buccoliero AM, Vinck A, Barba C, Gleeson JG, Guerrini R, Represa A.

Hum Mol Genet. 2019 Aug 14. pii: ddz194. doi: 10.1093/hmg/ddz194. [Epub ahead of print]

PMID:
31411685
11.

The current role for adjuvant and neoadjuvant therapy in renal cell cancer.

Gleeson JP, Motzer RJ, Lee CH.

Curr Opin Urol. 2019 Jul 24. doi: 10.1097/MOU.0000000000000666. [Epub ahead of print]

PMID:
31348025
12.

NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs.

Van Haute L, Lee SY, McCann BJ, Powell CA, Bansal D, Vasiliauskaitė L, Garone C, Shin S, Kim JS, Frye M, Gleeson JG, Miska EA, Rhee HW, Minczuk M.

Nucleic Acids Res. 2019 Jul 5. pii: gkz559. doi: 10.1093/nar/gkz559. [Epub ahead of print]

PMID:
31276587
13.

Siliconosis and the long-term implications of silent breast implant rupture.

Gleeson JP, Redmond HP, O'Reilly S.

Breast J. 2019 Jun 20. doi: 10.1111/tbj.13393. [Epub ahead of print] No abstract available.

PMID:
31219206
14.

Cytosine-5 RNA methylation links protein synthesis to cell metabolism.

Gkatza NA, Castro C, Harvey RF, Heiß M, Popis MC, Blanco S, Bornelöv S, Sajini AA, Gleeson JG, Griffin JL, West JA, Kellner S, Willis AE, Dietmann S, Frye M.

PLoS Biol. 2019 Jun 14;17(6):e3000297. doi: 10.1371/journal.pbio.3000297. eCollection 2019 Jun.

15.

Pretransitional behavior of viscoelastic parameters at the nematic to twist-bend nematic phase transition in flexible n-mers.

Parsouzi Z, Babakhanova G, Rajabi M, Saha R, Gyawali P, Turiv T, Wang H, Baldwin AR, Welch C, Mehl GH, Gleeson JT, Jakli A, Lavrentovich OD, Sprunt S.

Phys Chem Chem Phys. 2019 Jun 28;21(24):13078-13089. doi: 10.1039/c9cp00984a. Epub 2019 Jun 6.

PMID:
31168534
16.

Is loneliness a feasible treatment target in psychosis?

Lim MH, Penn DL, Thomas N, Gleeson JFM.

Soc Psychiatry Psychiatr Epidemiol. 2019 May 24. doi: 10.1007/s00127-019-01731-9. [Epub ahead of print]

PMID:
31127348
17.

The "online brain": how the Internet may be changing our cognition.

Firth J, Torous J, Stubbs B, Firth JA, Steiner GZ, Smith L, Alvarez-Jimenez M, Gleeson J, Vancampfort D, Armitage CJ, Sarris J.

World Psychiatry. 2019 Jun;18(2):119-129. doi: 10.1002/wps.20617.

18.

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.

Tiosano D, Baris HN, Chen A, Hitzert MM, Schueler M, Gulluni F, Wiesener A, Bergua A, Mory A, Copeland B, Gleeson JG, Rump P, van Meer H, Sival DA, Haucke V, Kriwinsky J, Knaup KX, Reis A, Hauer NN, Hirsch E, Roepman R, Pfundt R, Thiel CT, Wiesener MS, Aslanyan MG, Buchner DA.

PLoS Genet. 2019 Apr 29;15(4):e1008088. doi: 10.1371/journal.pgen.1008088. eCollection 2019 Apr.

19.

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.

Clark MM, Hildreth A, Batalov S, Ding Y, Chowdhury S, Watkins K, Ellsworth K, Camp B, Kint CI, Yacoubian C, Farnaes L, Bainbridge MN, Beebe C, Braun JJA, Bray M, Carroll J, Cakici JA, Caylor SA, Clarke C, Creed MP, Friedman J, Frith A, Gain R, Gaughran M, George S, Gilmer S, Gleeson J, Gore J, Grunenwald H, Hovey RL, Janes ML, Lin K, McDonagh PD, McBride K, Mulrooney P, Nahas S, Oh D, Oriol A, Puckett L, Rady Z, Reese MG, Ryu J, Salz L, Sanford E, Stewart L, Sweeney N, Tokita M, Van Der Kraan L, White S, Wigby K, Williams B, Wong T, Wright MS, Yamada C, Schols P, Reynders J, Hall K, Dimmock D, Veeraraghavan N, Defay T, Kingsmore SF.

Sci Transl Med. 2019 Apr 24;11(489). pii: eaat6177. doi: 10.1126/scitranslmed.aat6177.

PMID:
31019026
20.

Growth Hormone Induces Colon DNA Damage Independent of IGF-1.

Chesnokova V, Zonis S, Barrett RJ, Gleeson JP, Melmed S.

Endocrinology. 2019 Jun 1;160(6):1439-1447. doi: 10.1210/en.2019-00132.

PMID:
31002310
21.

Indication of a twist-grain-boundary-twist-bend phase of flexible core bent-shape chiral dimers.

Murachver MT, Nemati A, Salamończyk M, Bullock C, Sabata Z, Rahmani H, Vorobiova T, Izadnegahdar A, Salili SM, Norman V, Zhu C, Hegmann T, Sprunt SN, Gleeson JT, Jakli AI.

Soft Matter. 2019 Apr 17;15(16):3283-3290. doi: 10.1039/c8sm02338g.

22.

Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.

Shaheen R, Jiang N, Alzahrani F, Ewida N, Al-Sheddi T, Alobeid E, Musaev D, Stanley V, Hashem M, Ibrahim N, Abdulwahab F, Alshenqiti A, Sonmez FM, Saqati N, Alzaidan H, Al-Qattan MM, Al-Mohanna F, Gleeson JG, Alkuraya FS.

Am J Hum Genet. 2019 Apr 4;104(4):731-737. doi: 10.1016/j.ajhg.2019.02.018. Epub 2019 Mar 21.

PMID:
30905400
23.

A pilot digital intervention targeting loneliness in young people with psychosis.

Lim MH, Gleeson JFM, Rodebaugh TL, Eres R, Long KM, Casey K, Abbott JM, Thomas N, Penn DL.

Soc Psychiatry Psychiatr Epidemiol. 2019 Mar 14. doi: 10.1007/s00127-019-01681-2. [Epub ahead of print]

PMID:
30874828
24.

HORYZONS trial: protocol for a randomised controlled trial of a moderated online social therapy to maintain treatment effects from first-episode psychosis services.

Alvarez-Jimenez M, Bendall S, Koval P, Rice S, Cagliarini D, Valentine L, D'Alfonso S, Miles C, Russon P, Penn DL, Phillips J, Lederman R, Wadley G, Killackey E, Santesteban-Echarri O, Mihalopoulos C, Herrman H, Gonzalez-Blanch C, Gilbertson T, Lal S, Chambers R, Daglas-Georgiou R, Latorre C, Cotton SM, McGorry PD, Gleeson JF.

BMJ Open. 2019 Feb 19;9(2):e024104. doi: 10.1136/bmjopen-2018-024104.

25.

Steroid therapy in children with IgA nephropathy.

Cambier A, Boyer O, Deschenes G, Gleeson J, Couderc A, Hogan J, Robert T.

Pediatr Nephrol. 2019 Feb 18. doi: 10.1007/s00467-018-4189-7. [Epub ahead of print] Review.

PMID:
30778826
26.

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.

Friedman J, Smith DE, Issa MY, Stanley V, Wang R, Mendes MI, Wright MS, Wigby K, Hildreth A, Crawford JR, Koehler AE, Chowdhury S, Nahas S, Zhai L, Xu Z, Lo WS, James KN, Musaev D, Accogli A, Guerrero K, Tran LT, Omar TEI, Ben-Omran T, Dimmock D, Kingsmore SF, Salomons GS, Zaki MS, Bernard G, Gleeson JG.

Nat Commun. 2019 Feb 12;10(1):707. doi: 10.1038/s41467-018-07067-3.

27.

Extracorporeal blood purification techniques in children with hyper-inflammatory syndromes: a clinical overview.

Bottari G, Di Nardo M, Gleeson J, Minoia F, Moscatelli A, Cecchetti C, Verrina EE.

Minerva Anestesiol. 2019 May;85(5):531-542. doi: 10.23736/S0375-9393.19.13189-6. Epub 2019 Feb 7.

PMID:
30735018
28.

Excess growth hormone suppresses DNA damage repair in epithelial cells.

Chesnokova V, Zonis S, Barrett R, Kameda H, Wawrowsky K, Ben-Shlomo A, Yamamoto M, Gleeson J, Bresee C, Gorbunova V, Melmed S.

JCI Insight. 2019 Feb 7;4(3). pii: 125762. doi: 10.1172/jci.insight.125762. [Epub ahead of print]

29.

Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitors.

Li H, Saucedo-Cuevas L, Yuan L, Ross D, Johansen A, Sands D, Stanley V, Guemez-Gamboa A, Gregor A, Evans T, Chen S, Tan L, Molina H, Sheets N, Shiryaev SA, Terskikh AV, Gladfelter AS, Shresta S, Xu Z, Gleeson JG.

Neuron. 2019 Mar 20;101(6):1089-1098.e4. doi: 10.1016/j.neuron.2019.01.010. Epub 2019 Jan 31.

30.

Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations.

Mahmoud IG, Elmonem MA, Elkhateeb NM, Elnaggar W, Sobhi A, Girgis MY, Kamel M, Shaheen Y, Samaha M, Ramadan A, Zaki MS, El-Hawary B, Hassan SA, Khalifa IA, Mossad F, Al-Menabawy NM, Zielke S, Gleeson JG, Rolfs A, Selim LA.

Clin Genet. 2019 Apr;95(4):537-539. doi: 10.1111/cge.13492. Epub 2019 Jan 11. No abstract available.

PMID:
30633340
31.

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.

Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A.

J Clin Invest. 2019 Mar 1;129(3):1240-1256. doi: 10.1172/JCI123959. Epub 2019 Feb 11.

32.

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis.

Maffucci P, Bigio B, Rapaport F, Cobat A, Borghesi A, Lopez M, Patin E, Bolze A, Shang L, Bendavid M, Scott EM, Stenson PD, Cunningham-Rundles C, Cooper DN, Gleeson JG, Fellay J, Quintana-Murci L, Casanova JL, Abel L, Boisson B, Itan Y.

Proc Natl Acad Sci U S A. 2019 Jan 15;116(3):950-959. doi: 10.1073/pnas.1808403116. Epub 2018 Dec 27.

33.

Can antipsychotic dose reduction lead to better functional recovery in first-episode psychosis? A randomized controlled-trial of antipsychotic dose reduction. The reduce trial: Study protocol.

Weller A, Gleeson J, Alvarez-Jimenez M, McGorry P, Nelson B, Allott K, Bendall S, Bartholomeusz C, Koval P, Harrigan S, O'Donoghue B, Fornito A, Pantelis C, Paul Amminger G, Ratheesh A, Polari A, Wood SJ, van der El K, Ellinghaus C, Gates J, O'Connell J, Mueller M, Wunderink L, Killackey E.

Early Interv Psychiatry. 2018 Nov 29. doi: 10.1111/eip.12769. [Epub ahead of print]

PMID:
30488637
34.

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).

Rad A, Altunoglu U, Miller R, Maroofian R, James KN, Çağlayan AO, Najafi M, Stanley V, Boustany RM, Yeşil G, Sahebzamani A, Ercan-Sencicek G, Saeidi K, Wu K, Bauer P, Bakey Z, Gleeson JG, Hauser N, Gunel M, Kayserili H, Schmidts M.

J Med Genet. 2019 May;56(5):332-339. doi: 10.1136/jmedgenet-2018-105623. Epub 2018 Nov 28.

35.

A newly discovered mechanism driving neuronal mutations in Alzheimer's disease.

Chai G, Gleeson JG.

Nature. 2018 Nov;563(7733):631-632. doi: 10.1038/d41586-018-07334-9. No abstract available.

PMID:
30478369
36.

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.

Shashi V, Magiera MM, Klein D, Zaki M, Schoch K, Rudnik-Schöneborn S, Norman A, Lopes Abath Neto O, Dusl M, Yuan X, Bartesaghi L, De Marco P, Alfares AA, Marom R, Arold ST, Guzmán-Vega FJ, Pena LD, Smith EC, Steinlin M, Babiker MO, Mohassel P, Foley AR, Donkervoort S, Kaur R, Ghosh PS, Stanley V, Musaev D, Nava C, Mignot C, Keren B, Scala M, Tassano E, Picco P, Doneda P, Fiorillo C, Issa MY, Alassiri A, Alahmad A, Gerard A, Liu P, Yang Y, Ertl-Wagner B, Kranz PG, Wentzensen IM, Stucka R, Stong N, Allen AS, Goldstein DB; Undiagnosed Diseases Network, Schoser B, Rösler KM, Alfadhel M, Capra V, Chrast R, Strom TM, Kamsteeg EJ, Bönnemann CG, Gleeson JG, Martini R, Janke C, Senderek J.

EMBO J. 2018 Dec 3;37(23). pii: e100540. doi: 10.15252/embj.2018100540. Epub 2018 Nov 12.

PMID:
30420557
37.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG.

Am J Hum Genet. 2018 Nov 1;103(5):826. doi: 10.1016/j.ajhg.2018.10.002. No abstract available.

38.

Meta-analysis of the effects of third-wave behavioural interventions on disordered eating and body image concerns: implications for eating disorder prevention.

Linardon J, Gleeson J, Yap K, Murphy K, Brennan L.

Cogn Behav Ther. 2019 Jan;48(1):15-38. doi: 10.1080/16506073.2018.1517389. Epub 2018 Oct 11.

PMID:
30307377
39.

Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.

Guemez-Gamboa A, Çağlayan AO, Stanley V, Gregor A, Zaki MS, Saleem SN, Musaev D, McEvoy-Venneri J, Belandres D, Akizu N, Silhavy JL, Schroth J, Rosti RO, Copeland B, Lewis SM, Fang R, Issa MY, Per H, Gumus H, Bayram AK, Kumandas S, Akgumus GT, Erson-Omay EZ, Yasuno K, Bilguvar K, Heimer G, Pillar N, Shomron N, Weissglas-Volkov D, Porat Y, Einhorn Y, Gabriel S, Ben-Zeev B, Gunel M, Gleeson JG.

Ann Neurol. 2018 Nov;84(5):638-647. doi: 10.1002/ana.25327. Epub 2018 Oct 4.

40.

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).

Bramswig NC, Bertoli-Avella AM, Albrecht B, Al Aqeel AI, Alhashem A, Al-Sannaa N, Bah M, Bröhl K, Depienne C, Dorison N, Doummar D, Ehmke N, Elbendary HM, Gorokhova S, Héron D, Horn D, James K, Keren B, Kuechler A, Ismail S, Issa MY, Marey I, Mayer M, McEvoy-Venneri J, Megarbane A, Mignot C, Mohamed S, Nava C, Philip N, Ravix C, Rolfs A, Sadek AA, Segebrecht L, Stanley V, Trautman C, Valence S, Villard L, Wieland T, Engels H, Strom TM, Zaki MS, Gleeson JG, Lüdecke HJ, Bauer P, Wieczorek D.

Hum Genet. 2018 Sep;137(9):753-768. doi: 10.1007/s00439-018-1929-5. Epub 2018 Aug 23.

41.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG.

Am J Hum Genet. 2018 Sep 6;103(3):431-439. doi: 10.1016/j.ajhg.2018.07.010. Epub 2018 Aug 9. Erratum in: Am J Hum Genet. 2018 Nov 1;103(5):826.

42.

Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.

Breuss MW, Nguyen A, Song Q, Nguyen T, Stanley V, James KN, Musaev D, Chai G, Wirth SA, Anzenberg P, George RD, Johansen A, Ali S, Zia-Ur-Rehman M, Sultan T, Zaki MS, Gleeson JG.

Am J Hum Genet. 2018 Aug 2;103(2):296-304. doi: 10.1016/j.ajhg.2018.06.011. Epub 2018 Jul 19.

43.

Enhancing social functioning in young people at Ultra High Risk (UHR) for psychosis: A pilot study of a novel strengths and mindfulness-based online social therapy.

Alvarez-Jimenez M, Gleeson JF, Bendall S, Penn DL, Yung AR, Ryan RM, Eleftheriadis D, D'Alfonso S, Rice S, Miles C, Russon P, Lederman R, Chambers R, Gonzalez-Blanch C, Lim MH, Killackey E, McGorry PD, Nelson B.

Schizophr Res. 2018 Dec;202:369-377. doi: 10.1016/j.schres.2018.07.022. Epub 2018 Jul 18.

PMID:
30031616
44.

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.

Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yılmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG.

Nat Genet. 2018 Aug;50(8):1093-1101. doi: 10.1038/s41588-018-0166-0. Epub 2018 Jul 16.

45.

Enhanced Utilization of Induced Pluripotent Stem Cell-Derived Human Intestinal Organoids Using Microengineered Chips.

Workman MJ, Gleeson JP, Troisi EJ, Estrada HQ, Kerns SJ, Hinojosa CD, Hamilton GA, Targan SR, Svendsen CN, Barrett RJ.

Cell Mol Gastroenterol Hepatol. 2017 Dec 29;5(4):669-677.e2. doi: 10.1016/j.jcmgh.2017.12.008. eCollection 2018.

46.

Cultural and Contextual Adaptation of an eHealth Intervention for Youth Receiving Services for First-Episode Psychosis: Adaptation Framework and Protocol for Horyzons-Canada Phase 1.

Lal S, Gleeson J, Malla A, Rivard L, Joober R, Chandrasena R, Alvarez-Jimenez M.

JMIR Res Protoc. 2018 Apr 23;7(4):e100. doi: 10.2196/resprot.8810.

47.

Sodium caprate enables the blood pressure-lowering effect of Ile-Pro-Pro and Leu-Lys-Pro in spontaneously hypertensive rats by indirectly overcoming PepT1 inhibition.

Gleeson JP, Frías JM, Ryan SM, Brayden DJ.

Eur J Pharm Biopharm. 2018 Jul;128:179-187. doi: 10.1016/j.ejpb.2018.04.021. Epub 2018 Apr 20.

PMID:
29684535
48.

Paternally inherited cis-regulatory structural variants are associated with autism.

Brandler WM, Antaki D, Gujral M, Kleiber ML, Whitney J, Maile MS, Hong O, Chapman TR, Tan S, Tandon P, Pang T, Tang SC, Vaux KK, Yang Y, Harrington E, Juul S, Turner DJ, Thiruvahindrapuram B, Kaur G, Wang Z, Kingsmore SF, Gleeson JG, Bisson D, Kakaradov B, Telenti A, Venter JC, Corominas R, Toma C, Cormand B, Rueda I, Guijarro S, Messer KS, Nievergelt CM, Arranz MJ, Courchesne E, Pierce K, Muotri AR, Iakoucheva LM, Hervas A, Scherer SW, Corsello C, Sebat J.

Science. 2018 Apr 20;360(6386):327-331. doi: 10.1126/science.aan2261.

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Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS; University of Washington Center for Mendelian Genomics, Gleeson JG, Rump A, Conti V, Parrini E, Ross ME, Ledbetter DH, Guerrini R, Dobyns WB.

Genet Med. 2018 Nov;20(11):1354-1364. doi: 10.1038/gim.2018.8. Epub 2018 Apr 19.

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Song S, Gleeson JG.

Science. 2018 Mar 23;359(6382):1330-1331. doi: 10.1126/science.aat3977. No abstract available.

PMID:
29567692

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