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Items: 1 to 20 of 96

1.

Genome sequencing in persistently unsolved white matter disorders.

Helman G, Lajoie BR, Crawford J, Takanohashi A, Walkiewicz M, Dolzhenko E, Gross AM, Gainullin VG, Bent SJ, Jenkinson EM, Ferdinandusse S, Waterham HR, Dorboz I, Bertini E, Miyake N, Wolf NI, Abbink TEM, Kirwin SM, Tan CM, Hobson GM, Guo L, Ikegawa S, Pizzino A, Schmidt JL, Bernard G, Schiffmann R, van der Knaap MS, Simons C, Taft RJ, Vanderver A.

Ann Clin Transl Neurol. 2020 Jan;7(1):144-152. doi: 10.1002/acn3.50957. Epub 2020 Jan 7.

2.

Breast Cancer Screening in Women With Schizophrenia: A Systematic Review and Meta-Analysis.

Hwong A, Wang K, Bent S, Mangurian C.

Psychiatr Serv. 2020 Mar 1;71(3):263-268. doi: 10.1176/appi.ps.201900318. Epub 2019 Nov 14.

PMID:
31722645
3.

Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.

Yan H, Helman G, Murthy SE, Ji H, Crawford J, Kubisiak T, Bent SJ, Xiao J, Taft RJ, Coombs A, Wu Y, Pop A, Li D, de Vries LS, Jiang Y, Salomons GS, van der Knaap MS, Patapoutian A, Simons C, Burmeister M, Wang J, Wolf NI.

Am J Hum Genet. 2019 Nov 7;105(5):996-1004. doi: 10.1016/j.ajhg.2019.09.011. Epub 2019 Oct 3.

PMID:
31587869
4.

Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.

Corbett MA, van Eyk CL, Webber DL, Bent SJ, Newman M, Harper K, Berry JG, Azmanov DN, Woodward KJ, Gardner AE, Slee J, Pérez-Jurado LA, MacLennan AH, Gecz J.

NPJ Genom Med. 2019 May 31;4:11. doi: 10.1038/s41525-019-0086-7. eCollection 2019.

5.

Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome.

Helman G, Sharma S, Crawford J, Patra B, Jain P, Bent SJ, Urtizberea JA, Saran RK, Taft RJ, van der Knaap MS, Simons C.

Neurology. 2019 Feb 5;92(6):e587-e593. doi: 10.1212/WNL.0000000000006886. Epub 2019 Jan 11.

PMID:
30635494
6.

Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.

Corbett MA, van Eyk CL, Webber DL, Bent SJ, Newman M, Harper K, Berry JG, Azmanov DN, Woodward KJ, Gardner AE, Slee J, Pérez-Jurado LA, MacLennan AH, Gecz J.

NPJ Genom Med. 2018 Dec 14;3:33. doi: 10.1038/s41525-018-0073-4. eCollection 2018. Erratum in: NPJ Genom Med. 2019 May 31;4:11.

7.

Population health interventions to improve colorectal cancer screening by fecal immunochemical tests: A systematic review.

Issaka RB, Avila P, Whitaker E, Bent S, Somsouk M.

Prev Med. 2019 Jan;118:113-121. doi: 10.1016/j.ypmed.2018.10.021. Epub 2018 Oct 24.

8.

Identification of urinary metabolites that correlate with clinical improvements in children with autism treated with sulforaphane from broccoli.

Bent S, Lawton B, Warren T, Widjaja F, Dang K, Fahey JW, Cornblatt B, Kinchen JM, Delucchi K, Hendren RL.

Mol Autism. 2018 May 30;9:35. doi: 10.1186/s13229-018-0218-4. eCollection 2018.

9.

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.

Simons C, Dyment D, Bent SJ, Crawford J, D'Hooghe M, Kohlschütter A, Venkateswaran S, Helman G, Poll-The BT, Makowski CC, Ito Y, Kernohan K, Hartley T, Waisfisz Q, Taft RJ; Care4Rare Consortium, van der Knaap MS, Wolf NI.

Brain. 2017 Dec 1;140(12):3105-3111. doi: 10.1093/brain/awx314.

10.

Integrating Autism Care through a School-Based Intervention Model: A Pilot Study.

Dang K, Bent S, Lawton B, Warren T, Widjaja F, McDonald MG, Breard M, O'Keefe W, Hendren RL.

J Clin Med. 2017 Oct 19;6(10). pii: E97. doi: 10.3390/jcm6100097.

11.

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.

Miyake N, Wolf NI, Cayami FK, Crawford J, Bley A, Bulas D, Conant A, Bent SJ, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A.

Neurogenetics. 2017 Dec;18(4):185-194. doi: 10.1007/s10048-017-0520-x. Epub 2017 Aug 26.

12.

Anticoagulation for the treatment of venous thromboembolism in patients with brain metastases: a meta-analysis and systematic review.

Hunter BD, Minichiello T, Bent S.

J Thromb Thrombolysis. 2017 Oct;44(3):392-398. doi: 10.1007/s11239-017-1536-7. Review.

PMID:
28836150
13.

Mural lymphatic endothelial cells regulate meningeal angiogenesis in the zebrafish.

Bower NI, Koltowska K, Pichol-Thievend C, Virshup I, Paterson S, Lagendijk AK, Wang W, Lindsey BW, Bent SJ, Baek S, Rondon-Galeano M, Hurley DG, Mochizuki N, Simons C, Francois M, Wells CA, Kaslin J, Hogan BM.

Nat Neurosci. 2017 Jun;20(6):774-783. doi: 10.1038/nn.4558. Epub 2017 May 1.

PMID:
28459441
14.

Open-Label Trial of Vitamin D3 Supplementation in Children with Autism Spectrum Disorder.

Bent S, Ailarov A, Dang KT, Widjaja F, Lawton BL, Hendren RL.

J Altern Complement Med. 2017 May;23(5):394-395. doi: 10.1089/acm.2016.0297. Epub 2017 Feb 16. No abstract available.

PMID:
28437142
15.

Closely-related Borrelia burgdorferi (sensu stricto) strains exhibit similar fitness in single infections and asymmetric competition in multiple infections.

Rynkiewicz EC, Brown J, Tufts DM, Huang CI, Kampen H, Bent SJ, Fish D, Diuk-Wasser MA.

Parasit Vectors. 2017 Feb 6;10(1):64. doi: 10.1186/s13071-016-1964-9.

16.

Examining Clinics for Children with Autism: The Autism Translating To Treatment Study.

Bent S, Dang K, Widjaja F, Lawton B, Nazneen N, Hendren RL.

J Altern Complement Med. 2017 May;23(5):340-347. doi: 10.1089/acm.2016.0301. Epub 2017 Jan 13.

PMID:
28084799
17.

Placental transcriptome co-expression analysis reveals conserved regulatory programs across gestation.

Buckberry S, Bianco-Miotto T, Bent SJ, Clifton V, Shoubridge C, Shankar K, Roberts CT.

BMC Genomics. 2017 Jan 3;18(1):10. doi: 10.1186/s12864-016-3384-9.

18.

Effects of long-term tenofovir-based combination antiretroviral therapy in HIV-hepatitis B virus coinfection on persistent hepatitis B virus viremia and the role of hepatitis B virus quasispecies diversity.

Audsley J, Bent SJ, Littlejohn M, Avihingsanon A, Matthews G, Bowden S, Bayliss J, Luciani F, Yuen L, Fairley CK, Locarnini S, Lewin SR, Sasadeusz J.

AIDS. 2016 Jun 19;30(10):1597-606. doi: 10.1097/QAD.0000000000001080.

PMID:
26950313
19.

Randomized, Placebo-Controlled Trial of Methyl B12 for Children with Autism.

Hendren RL, James SJ, Widjaja F, Lawton B, Rosenblatt A, Bent S.

J Child Adolesc Psychopharmacol. 2016 Nov;26(9):774-783. Epub 2016 Feb 18.

20.

The Impact of Clinical Decision Rules on Computed Tomography Use and Yield for Pulmonary Embolism: A Systematic Review and Meta-analysis.

Wang RC, Bent S, Weber E, Neilson J, Smith-Bindman R, Fahimi J.

Ann Emerg Med. 2016 Jun;67(6):693-701.e3. doi: 10.1016/j.annemergmed.2015.11.005. Epub 2015 Dec 31. Review.

PMID:
26747217

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