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Items: 1 to 50 of 249

1.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H.

Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w.

2.

Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders.

Fenckova M, Blok LER, Asztalos L, Goodman DP, Cizek P, Singgih EL, Glennon JC, IntHout J, Zweier C, Eichler EE, von Reyn CR, Bernier RA, Asztalos Z, Schenck A.

Biol Psychiatry. 2019 May 9. pii: S0006-3223(19)31326-5. doi: 10.1016/j.biopsych.2019.04.029. [Epub ahead of print]

3.

The Fetal Origins of Mental Illness.

Al-Haddad BJS, Oler E, Armistead B, Elsayed NA, Weinberger DR, Bernier R, Burd I, Kapur R, Jacobsson B, Wang C, Mysorekar I, Rajagopal L, Adams Waldorf KM.

Am J Obstet Gynecol. 2019 Jun 14. pii: S0002-9378(19)30777-X. doi: 10.1016/j.ajog.2019.06.013. [Epub ahead of print] Review.

PMID:
31207234
4.

Methodological considerations in the use of Noldus EthoVision XT video tracking of children with autism in multi-site studies.

Sabatos-DeVito M, Murias M, Dawson G, Howell T, Yuan A, Marsan S, Bernier RA, Brandt CA, Chawarska K, Dzuira JD, Faja S, Jeste SS, Naples A, Nelson CA, Shic F, Sugar CA, Webb SJ, McPartland JC; Autism Biomarkers Consortium for Clinical Trials.

Biol Psychol. 2019 Jun 1;146:107712. doi: 10.1016/j.biopsycho.2019.05.012. [Epub ahead of print]

PMID:
31163191
5.

α7 Nicotinic Acetylcholine Receptor Signaling Modulates Ovine Fetal Brain Astrocytes Transcriptome in Response to Endotoxin.

Cao M, MacDonald JW, Liu HL, Weaver M, Cortes M, Durosier LD, Burns P, Fecteau G, Desrochers A, Schulkin J, Antonelli MC, Bernier RA, Dorschner M, Bammler TK, Frasch MG.

Front Immunol. 2019 May 9;10:1063. doi: 10.3389/fimmu.2019.01063. eCollection 2019.

6.

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

Cheng H, Gottlieb L, Marchi E, Kleyner R, Bhardwaj P, Rope AF, Rosenheck S, Moutton S, Philippe C, Eyaid W, Alkuraya FS, Toribio J, Mena R, Prada CE, Stessman H, Bernier R, Wermuth M, Kauffmann B, Blaumeiser B, Kooy RF, Baralle D, Mancini GMS, Conway SJ, Xia F, Chen Z, Meng L, Mihajlovic L, Marmorstein R, Lyon GJ.

Hum Mol Genet. 2019 May 25. pii: ddz111. doi: 10.1093/hmg/ddz111. [Epub ahead of print]

PMID:
31127942
7.

Enhanced default mode connectivity predicts metacognitive accuracy in traumatic brain injury.

Grossner EC, Bernier RA, Brenner EK, Chiou KS, Hong J, Hillary FG.

Neuropsychology. 2019 May 16. doi: 10.1037/neu0000559. [Epub ahead of print]

PMID:
31094553
8.

Gaps in Current Autism Research: The Thoughts of the Autism Research Editorial Board and Associate Editors.

Amaral DG, Anderson GM, Bailey A, Bernier R, Bishop S, Blatt G, Canal-Bedia R, Charman T, Dawson G, de Vries PJ, Dicicco-Bloom E, Dissanayake C, Kamio Y, Kana R, Khan NZ, Knoll A, Kooy F, Lainhart J, Levitt P, Loveland K, Minshew N, Mueller RA, Murphy D, Mundy P, Palencia S, Pinto-Martin J, Rattazzi A, Rogers S, Stone WL, Webb SJ, Whitehouse A.

Autism Res. 2019 May;12(5):700-714. doi: 10.1002/aur.2101. Epub 2019 Apr 26. No abstract available.

PMID:
31025542
9.

Perceptions of water insecurity from urban and peri-urban Haiti: A quantitative analysis.

Wood EA, Douglas H, Fiore AJ, Bernier R, Chapman KS.

PLoS One. 2019 Apr 24;14(4):e0214789. doi: 10.1371/journal.pone.0214789. eCollection 2019.

10.

Perceived water insecurity among adults from urban and peri-urban Haiti: A qualitative study.

Wood EA, Douglas H, Fiore AJ, Nappy MK, Bernier R, Chapman KS.

PLoS One. 2019 Apr 24;14(4):e0214790. doi: 10.1371/journal.pone.0214790. eCollection 2019.

11.

Linking social motivation with social skill: The role of emotion dysregulation in autism spectrum disorder.

Neuhaus E, Webb SJ, Bernier RA.

Dev Psychopathol. 2019 Aug;31(3):931-943. doi: 10.1017/S0954579419000361. Epub 2019 Apr 8.

PMID:
30957732
12.

Long-term Risk of Neuropsychiatric Disease After Exposure to Infection In Utero.

Al-Haddad BJS, Jacobsson B, Chabra S, Modzelewska D, Olson EM, Bernier R, Enquobahrie DA, Hagberg H, Östling S, Rajagopal L, Adams Waldorf KM, Sengpiel V.

JAMA Psychiatry. 2019 Mar 6. doi: 10.1001/jamapsychiatry.2019.0029. [Epub ahead of print]

PMID:
30840048
13.

Correction: Psychiatric disorders in children with 16p11.2 deletion and duplication.

Niarchou M, Chawner SJRA, Doherty JL, Maillard AM, Jacquemont S, Chung WK, Green-Snyder L, Bernier RA, Goin-Kochel RP, Hanson E, Linden DEJ, Linden SC, Raymond FL, Skuse D, Hall J, Owen MJ, van den Bree MBM.

Transl Psychiatry. 2019 Mar 5;9(1):107. doi: 10.1038/s41398-019-0441-6.

14.

Psychiatric disorders in children with 16p11.2 deletion and duplication.

Niarchou M, Chawner SJRA, Doherty JL, Maillard AM, Jacquemont S, Chung WK, Green-Snyder L, Bernier RA, Goin-Kochel RP, Hanson E, Linden DEJ, Linden SC, Raymond FL, Skuse D, Hall J, Owen MJ, Bree MBMVD.

Transl Psychiatry. 2019 Jan 16;9(1):8. doi: 10.1038/s41398-018-0339-8. Erratum in: Transl Psychiatry. 2019 Mar 5;9(1):107.

15.

Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene.

Patowary A, Won SY, Oh SJ, Nesbitt RR, Archer M, Nickerson D, Raskind WH, Bernier R, Lee JE, Brkanac Z.

Transl Psychiatry. 2019 Jan 15;9(1):4. doi: 10.1038/s41398-018-0343-z.

16.

Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.

Guo H, Wang T, Wu H, Long M, Coe BP, Li H, Xun G, Ou J, Chen B, Duan G, Bai T, Zhao N, Shen Y, Li Y, Wang Y, Zhang Y, Baker C, Liu Y, Pang N, Huang L, Han L, Jia X, Liu C, Ni H, Yang X, Xia L, Chen J, Shen L, Li Y, Zhao R, Zhao W, Peng J, Pan Q, Long Z, Su W, Tan J, Du X, Ke X, Yao M, Hu Z, Zou X, Zhao J, Bernier RA, Eichler EE, Xia K.

Mol Autism. 2018 Dec 13;9:64. doi: 10.1186/s13229-018-0247-z. eCollection 2018.

17.

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.

Coe BP, Stessman HAF, Sulovari A, Geisheker MR, Bakken TE, Lake AM, Dougherty JD, Lein ES, Hormozdiari F, Bernier RA, Eichler EE.

Nat Genet. 2019 Jan;51(1):106-116. doi: 10.1038/s41588-018-0288-4. Epub 2018 Dec 17.

18.

A Population-Based Study of Adherence to Guideline Recommendations and Appropriate-Use Criteria for Implantable Cardioverter Defibrillators.

Bernier R, Al-Shehri M, Raj SR, Reyes L, Lockwood E, Gulamhusein S, Williams R, Valtuille L, Sivakumaran S, Hruczkowski T, Kimber S, Exner DV, Sandhu RK.

Can J Cardiol. 2018 Dec;34(12):1677-1681. doi: 10.1016/j.cjca.2018.08.030. Epub 2018 Aug 24.

PMID:
30527158
19.

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.

Guo H, Duyzend MH, Coe BP, Baker C, Hoekzema K, Gerdts J, Turner TN, Zody MC, Beighley JS, Murali SC, Nelson BJ; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Bernier RA, Eichler EE.

Genet Med. 2019 Jul;21(7):1611-1620. doi: 10.1038/s41436-018-0380-2. Epub 2018 Dec 3.

PMID:
30504930
20.

Volatile Anesthetic Attenuates Phagocyte Function and Worsens Bacterial Loads in Wounds.

Koutsogiannaki S, Bernier R, Tazawa K, Yuki K.

J Surg Res. 2019 Jan;233:323-330. doi: 10.1016/j.jss.2018.07.075. Epub 2018 Sep 5.

PMID:
30502266
21.

The diagnosis conundrum: Comparison of crowdsourced and expert assessments of toddlers with high and low risk of autism spectrum disorder.

Myers E, Stone WL, Bernier R, Lendvay T, Comstock B, Cowan C.

Autism Res. 2018 Dec;11(12):1629-1634. doi: 10.1002/aur.2030. Epub 2018 Nov 26.

PMID:
30475456
22.

Gastrointestinal and Psychiatric Symptoms Among Children and Adolescents With Autism Spectrum Disorder.

Neuhaus E, Bernier RA, Tham SW, Webb SJ.

Front Psychiatry. 2018 Oct 22;9:515. doi: 10.3389/fpsyt.2018.00515. eCollection 2018.

23.

Reduced auditory cortical adaptation in autism spectrum disorder.

Millin R, Kolodny T, Flevaris AV, Kale AM, Schallmo MP, Gerdts J, Bernier RA, Murray S.

Elife. 2018 Oct 26;7. pii: e36493. doi: 10.7554/eLife.36493.

24.

Auditory perception is associated with implicit language learning and receptive language ability in autism spectrum disorder.

Arnett AB, Hudac CM, DesChamps TD, Cairney BE, Gerdts J, Wallace AS, Bernier RA, Webb SJ.

Brain Lang. 2018 Dec;187:1-8. doi: 10.1016/j.bandl.2018.09.007. Epub 2018 Oct 9.

PMID:
30312833
25.

Glutamatergic facilitation of neural responses in MT enhances motion perception in humans.

Schallmo MP, Millin R, Kale AM, Kolodny T, Edden RAE, Bernier RA, Murray SO.

Neuroimage. 2019 Jan 1;184:925-931. doi: 10.1016/j.neuroimage.2018.10.001. Epub 2018 Oct 9.

PMID:
30312807
26.

Correction: The evolution of cost-efficiency in neural networks during recovery from traumatic brain injury.

Roy A, Bernier RA, Wang J, Benson M, French JJ Jr, Good DC, Hillary FG.

PLoS One. 2018 Oct 12;13(10):e0206005. doi: 10.1371/journal.pone.0206005. eCollection 2018.

27.

Replication of a rare risk haplotype on 1p36.33 for autism spectrum disorder.

Chapman NH, Bernier RA, Webb SJ, Munson J, Blue EM, Chen DH, Heigham E, Raskind WH, Wijsman EM.

Hum Genet. 2018 Oct;137(10):807-815. doi: 10.1007/s00439-018-1939-3. Epub 2018 Oct 1.

PMID:
30276537
28.

Sex Differences in Visual Motion Processing.

Murray SO, Schallmo MP, Kolodny T, Millin R, Kale A, Thomas P, Rammsayer TH, Troche SJ, Bernier RA, Tadin D.

Curr Biol. 2018 Sep 10;28(17):2794-2799.e3. doi: 10.1016/j.cub.2018.06.014. Epub 2018 Aug 16.

PMID:
30122530
29.

The autism spectrum phenotype in ADNP syndrome.

Arnett AB, Rhoads CL, Hoekzema K, Turner TN, Gerdts J, Wallace AS, Bedrosian-Sermone S, Eichler EE, Bernier RA.

Autism Res. 2018 Sep;11(9):1300-1310. doi: 10.1002/aur.1980. Epub 2018 Aug 14.

PMID:
30107084
30.

The state of research on the genetics of autism spectrum disorder: methodological, clinical and conceptual progress.

Arnett AB, Trinh S, Bernier RA.

Curr Opin Psychol. 2019 Jun;27:1-5. doi: 10.1016/j.copsyc.2018.07.004. Epub 2018 Jul 21. Review.

PMID:
30059871
31.

Diminished neural network dynamics after moderate and severe traumatic brain injury.

Gilbert N, Bernier RA, Calhoun VD, Brenner E, Grossner E, Rajtmajer SM, Hillary FG.

PLoS One. 2018 Jun 8;13(6):e0197419. doi: 10.1371/journal.pone.0197419. eCollection 2018.

32.

Prefrontal gray matter volume predicts metacognitive accuracy following traumatic brain injury.

Grossner EC, Bernier RA, Brenner EK, Chiou KS, Hillary FG.

Neuropsychology. 2018 May;32(4):484-494. doi: 10.1037/neu0000446.

33.

Diminished neural network dynamics in amnestic mild cognitive impairment.

Brenner EK, Hampstead BM, Grossner EC, Bernier RA, Gilbert N, Sathian K, Hillary FG.

Int J Psychophysiol. 2018 Aug;130:63-72. doi: 10.1016/j.ijpsycho.2018.05.001. Epub 2018 May 5.

PMID:
29738855
34.

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.

Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium, Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF.

Biol Psychiatry. 2019 Feb 15;85(4):287-297. doi: 10.1016/j.biopsych.2018.02.1173. Epub 2018 Mar 15.

PMID:
29724491
35.

Progress in Understanding and Treating SCN2A-Mediated Disorders.

Sanders SJ, Campbell AJ, Cottrell JR, Moller RS, Wagner FF, Auldridge AL, Bernier RA, Catterall WA, Chung WK, Empfield JR, George AL Jr, Hipp JF, Khwaja O, Kiskinis E, Lal D, Malhotra D, Millichap JJ, Otis TS, Petrou S, Pitt G, Schust LF, Taylor CM, Tjernagel J, Spiro JE, Bender KJ.

Trends Neurosci. 2018 Jul;41(7):442-456. doi: 10.1016/j.tins.2018.03.011. Epub 2018 Apr 23. Review.

36.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, Rosenfeld JA, Conboy E, Agre K, Xia F, Walkiewicz M, Longoni M, High FA, van Slegtenhorst MA, Mancini GMS, Finnila CR, van Haeringen A, den Hollander N, Ruivenkamp C, Naidu S, Mahida S, Palmer EE, Murray L, Lim D, Jayakar P, Parker MJ, Giusto S, Stracuzzi E, Romano C, Beighley JS, Bernier RA, Küry S, Nizon M, Corbett MA, Shaw M, Gardner A, Barnett C, Armstrong R, Kassahn KS, Van Dijck A, Vandeweyer G, Kleefstra T, Schieving J, Jongmans MJ, de Vries BBA, Pfundt R, Kerr B, Rojas SK, Boycott KM, Person R, Willaert R, Eichler EE, Kooy RF, Yang Y, Wu JC, Lupski JR, Arnesen T, Cooper GM, Chung WK, Gecz J, Stessman HAF, Meng L, Lyon GJ.

Am J Hum Genet. 2018 May 3;102(5):985-994. doi: 10.1016/j.ajhg.2018.03.004. Epub 2018 Apr 12.

37.

Inclusion of non-English-speaking patients in research: A single institution experience.

Bernier R, Halpin E, Staffa SJ, Benson L, DiNardo JA, Nasr VG.

Paediatr Anaesth. 2018 May;28(5):415-420. doi: 10.1111/pan.13363. Epub 2018 Mar 30.

PMID:
29603847
38.

Early enhanced processing and delayed habituation to deviance sounds in autism spectrum disorder.

Hudac CM, DesChamps TD, Arnett AB, Cairney BE, Ma R, Webb SJ, Bernier RA.

Brain Cogn. 2018 Jun;123:110-119. doi: 10.1016/j.bandc.2018.03.004. Epub 2018 Mar 16.

39.

Suppression and facilitation of human neural responses.

Schallmo MP, Kale AM, Millin R, Flevaris AV, Brkanac Z, Edden RA, Bernier RA, Murray SO.

Elife. 2018 Jan 29;7. pii: e30334. doi: 10.7554/eLife.30334.

40.

Longitudinal report of child with de novo 16p11.2 triplication.

Wallace AS, Hudac CM, Steinman KJ, Peterson JL, DesChamps TD, Duyzend MH, Nuttle X, Eichler EE, Bernier RA.

Clin Case Rep. 2017 Dec 6;6(1):147-154. doi: 10.1002/ccr3.1236. eCollection 2018 Jan.

41.

Interdisciplinary Team Evaluation: An Effective Method for the Diagnostic Assessment of Autism Spectrum Disorder.

Gerdts J, Mancini J, Fox E, Rhoads C, Ward T, Easley E, Bernier RA.

J Dev Behav Pediatr. 2018 May;39(4):271-281. doi: 10.1097/DBP.0000000000000549.

PMID:
29346136
42.

Preoperative Thromboelastographic Profile of Patients with Congenital Heart Disease: Association of Hypercoagulability and Decreased Heparin Response.

Fang ZA, Bernier R, Emani S, Emani S, Matte G, DiNardo JA, Faraoni D, Ibla JC.

J Cardiothorac Vasc Anesth. 2018 Aug;32(4):1657-1663. doi: 10.1053/j.jvca.2017.12.013. Epub 2017 Dec 12.

PMID:
29331555
43.

Validation of a Second-Generation Near-Infrared Spectroscopy Monitor in Children With Congenital Heart Disease.

Nasr VG, Bergersen LT, Lin HM, Benni PB, Bernier RS, Anderson ME, Kussman BD.

Anesth Analg. 2019 Apr;128(4):661-668. doi: 10.1213/ANE.0000000000002796.

PMID:
29324491
44.

Corrigendum: Dedifferentiation Does Not Account for Hyperconnectivity after Traumatic Brain Injury.

Bernier RA, Roy A, Venkatesan UM, Grossner EC, Brenner EK, Hillary FG.

Front Neurol. 2017 Dec 13;8:674. doi: 10.3389/fneur.2017.00674. eCollection 2017.

45.

Child and family characteristics moderate agreement between caregiver and clinician report of autism symptoms.

Neuhaus E, Beauchaine TP, Bernier RA, Webb SJ.

Autism Res. 2018 Mar;11(3):476-487. doi: 10.1002/aur.1907. Epub 2017 Dec 18.

46.

Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism.

Luhrs K, Ward T, Hudac CM, Gerdts J, Stessman HAF, Eichler EE, Bernier RA.

Autism Res Treat. 2017;2017:9371964. doi: 10.1155/2017/9371964. Epub 2017 Nov 8.

47.

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.

Jansen S, Hoischen A, Coe BP, Carvill GL, Van Esch H, Bosch DGM, Andersen UA, Baker C, Bauters M, Bernier RA, van Bon BW, Claahsen-van der Grinten HL, Gecz J, Gilissen C, Grillo L, Hackett A, Kleefstra T, Koolen D, Kvarnung M, Larsen MJ, Marcelis C, McKenzie F, Monin ML, Nava C, Schuurs-Hoeijmakers JH, Pfundt R, Steehouwer M, Stevens SJC, Stumpel CT, Vansenne F, Vinci M, van de Vorst M, Vries P, Witherspoon K, Veltman JA, Brunner HG, Mefford HC, Romano C, Vissers LELM, Eichler EE, de Vries BBA.

Eur J Hum Genet. 2018 Jan;26(1):54-63. doi: 10.1038/s41431-017-0039-5. Epub 2017 Dec 5.

48.

Prospective investigation of FOXP1 syndrome.

Siper PM, De Rubeis S, Trelles MDP, Durkin A, Di Marino D, Muratet F, Frank Y, Lozano R, Eichler EE, Kelly M, Beighley J, Gerdts J, Wallace AS, Mefford HC, Bernier RA, Kolevzon A, Buxbaum JD.

Mol Autism. 2017 Oct 24;8:57. doi: 10.1186/s13229-017-0172-6. eCollection 2017.

49.

Clinical phenotype of ASD-associated DYRK1A haploinsufficiency.

Earl RK, Turner TN, Mefford HC, Hudac CM, Gerdts J, Eichler EE, Bernier RA.

Mol Autism. 2017 Oct 5;8:54. doi: 10.1186/s13229-017-0173-5. eCollection 2017.

50.

Psychometrics of the AAN Caregiver Driving Safety Questionnaire and contributors to caregiver concern about driving safety in older adults.

Carvalho JO, Springate B, Bernier RA, Davis J.

Int Psychogeriatr. 2018 Mar;30(3):355-364. doi: 10.1017/S1041610217001727. Epub 2017 Oct 2.

PMID:
28965527

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