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Showing 1 to 12 of 28 entries
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An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.

NPJ genomic medicine

Haghighi A, Krier JB, Toth-Petroczy A, Cassa CA, Frank NY, Carmichael N, Fieg E, Bjonnes A, Mohanty A, Briere LC, Lincoln S, Lucia S, Gupta VA, Söylemez O, Sutti S, Kooshesh K, Qiu H, Fay CJ, Perroni V, Valerius J, Hanna M, Frank A, Ouahed J, Snapper SB, Pantazi A, Chopra SS, Leshchiner I, Stitziel NO, Feldweg A, Mannstadt M, Loscalzo J, Sweetser DA, Liao E, Stoler JM, Nowak CB, Sanchez-Lara PA, Klein OD, Perry H, Patsopoulos NA, Raychaudhuri S, Goessling W, Green RC, Seidman CE, MacRae CA, Sunyaev SR, Maas RL, Vuzman D.
PMID: 30131872
NPJ Genom Med. 2018 Aug 13;3:21. doi: 10.1038/s41525-018-0060-9. eCollection 2018.

Despite major progress in defining the genetic basis of Mendelian disorders, the molecular etiology of many cases remains unknown. Patients with these undiagnosed disorders often have complex presentations and require treatment by multiple health care specialists. Here, we describe...

Chronic wireless neural population recordings with common marmosets.

Cell reports

Walker JD, Pirschel F, Sundiang M, Niekrasz M, MacLean JN, Hatsopoulos NG.
PMID: 34260919
Cell Rep. 2021 Jul 13;36(2):109379. doi: 10.1016/j.celrep.2021.109379.

Marmosets are an increasingly important model system for neuroscience in part due to genetic tractability and enhanced cortical accessibility, due to a lissencephalic neocortex. However, many of the techniques generally employed to record neural activity in primates inhibit the...

Proximal and distal effects of genetic susceptibility to multiple sclerosis on the T cell epigenome.

Nature communications

Roostaei T, Klein HU, Ma Y, Felsky D, Kivisäkk P, Connor SM, Kroshilina A, Yung C, Kaskow BJ, Shao X, Rhead B, Ordovás JM, Absher DM, Arnett DK, Liu J, Patsopoulos N, Barcellos LF, Weiner HL, De Jager PL.
PMID: 34873174
Nat Commun. 2021 Dec 06;12(1):7078. doi: 10.1038/s41467-021-27427-w.

Identifying the effects of genetic variation on the epigenome in disease-relevant cell types can help advance our understanding of the first molecular contributions of genetic susceptibility to disease onset. Here, we establish a genome-wide map of DNA methylation quantitative...

Symbolic universes between present and future of Europe. First results of the map of European societies' cultural milieu.

PloS one

Salvatore S, Fini V, Mannarini T, Veltri GA, Avdi E, Battaglia F, Castro-Tejerina J, Ciavolino E, Cremaschi M, Kadianaki I, Kharlamov NA, Krasteva A, Kullasepp K, Matsopoulos A, Meschiari C, Mossi P, Psinas P, Redd R, Rochira A, Santarpia A, Sammut G, Valsiner J, Valmorbida A.
PMID: 29298349
PLoS One. 2018 Jan 03;13(1):e0189885. doi: 10.1371/journal.pone.0189885. eCollection 2018.

This paper reports the framework, method and main findings of an analysis of cultural milieus in 4 European countries (Estonia, Greece, Italy, and UK). The analysis is based on a questionnaire applied to a sample built through a two-step...

Correction: Symbolic universes between present and future of Europe. First results of the map of European societies' cultural milieu.

PloS one

Salvatore S, Fini V, Mannarini T, Veltri GA, Avdi E, Battaglia F, Castro-Tejerina J, Ciavolino E, Cremaschi M, Kadianaki I, Kharlamov NA, Krasteva A, Kullasepp K, Matsopoulos A, Meschiari C, Mossi P, Psinas P, Redd R, Rochira A, Santarpia A, Sammut G, Valsiner J, Valmorbida A.
PMID: 29953545
PLoS One. 2018 Jun 28;13(6):e0200223. doi: 10.1371/journal.pone.0200223. eCollection 2018.

[This corrects the article DOI: 10.1371/journal.pone.0189885.].

MS .

Neurology(R) neuroimmunology & neuroinflammation

Kaskow BJ, Buttrick TS, Klein HU, White C, Bourgeois JR, Ferland RJ, Patsopoulos N, Bradshaw EM, De Jager PL, Elyaman W.
PMID: 29379820
Neurol Neuroimmunol Neuroinflamm. 2017 Dec 08;5(1):e414. doi: 10.1212/NXI.0000000000000414. eCollection 2018 Jan.

OBJECTIVE: To study the influence of the Abelson helper integration site 1 (METHODS: We characterized the chromatin state of T cells in the MS-associated RESULTS: Chromatin state analysis reveals that the LD block containing rs4896153, which is robustly associated...

Avalanche Analysis from Multielectrode Ensemble Recordings in Cat, Monkey, and Human Cerebral Cortex during Wakefulness and Sleep.

Frontiers in physiology

Dehghani N, Hatsopoulos NG, Haga ZD, Parker RA, Greger B, Halgren E, Cash SS, Destexhe A.
PMID: 22934053
Front Physiol. 2012 Aug 03;3:302. doi: 10.3389/fphys.2012.00302. eCollection 2012.

Self-organized critical states are found in many natural systems, from earthquakes to forest fires, they have also been observed in neural systems, particularly, in neuronal cultures. However, the presence of critical states in the awake brain remains controversial. Here,...

Tracking single units in chronic, large scale, neural recordings for brain machine interface applications.

Frontiers in neuroengineering

Eleryan A, Vaidya M, Southerland J, Badreldin IS, Balasubramanian K, Fagg AH, Hatsopoulos N, Oweiss K.
PMID: 25071546
Front Neuroeng. 2014 Jul 08;7:23. doi: 10.3389/fneng.2014.00023. eCollection 2014.

In the study of population coding in neurobiological systems, tracking unit identity may be critical to assess possible changes in the coding properties of neuronal constituents over prolonged periods of time. Ensuring unit stability is even more critical for...

Critical interpretation of Cochran's Q test depends on power and prior assumptions about heterogeneity.

Research synthesis methods

Pereira TV, Patsopoulos NA, Salanti G, Ioannidis JP.
PMID: 26061380
Res Synth Methods. 2010 Apr;1(2):149-61. doi: 10.1002/jrsm.13. Epub 2010 Oct 28.

We describe how an appropriate interpretation of the Q-test depends on its power to detect a given typical amount of between-study variance (τ(2)) as well as prior beliefs on heterogeneity. We illustrate these concepts in an evaluation of 1011...

Proximal and distal effects of genetic susceptibility to multiple sclerosis on the T cell epigenome.

Nature communications

Roostaei T, Klein HU, Ma Y, Felsky D, Kivisäkk P, Connor SM, Kroshilina A, Yung C, Kaskow BJ, Shao X, Rhead B, Ordovás JM, Absher DM, Arnett DK, Liu J, Patsopoulos N, Barcellos LF, Weiner HL, De Jager PL.
PMID: 34873174
Nat Commun. 2021 Dec 06;12(1):7078. doi: 10.1038/s41467-021-27427-w.

Identifying the effects of genetic variation on the epigenome in disease-relevant cell types can help advance our understanding of the first molecular contributions of genetic susceptibility to disease onset. Here, we establish a genome-wide map of DNA methylation quantitative...

Chronic wireless neural population recordings with common marmosets.

Cell reports

Walker JD, Pirschel F, Sundiang M, Niekrasz M, MacLean JN, Hatsopoulos NG.
PMID: 34260919
Cell Rep. 2021 Jul 13;36(2):109379. doi: 10.1016/j.celrep.2021.109379.

Marmosets are an increasingly important model system for neuroscience in part due to genetic tractability and enhanced cortical accessibility, due to a lissencephalic neocortex. However, many of the techniques generally employed to record neural activity in primates inhibit the...

Genetics and functional genomics of multiple sclerosis.

Seminars in immunopathology

Kim W, Patsopoulos NA.
PMID: 35022889
Semin Immunopathol. 2022 Jan 12; doi: 10.1007/s00281-021-00907-3. Epub 2022 Jan 12.

Multiple sclerosis (MS) is an inflammatory neurodegenerative disease with genetic predisposition. Over the last decade, genome-wide association studies with increasing sample size led to the discovery of robustly associated genetic variants at an exponential rate. More than 200 genetic...

Showing 1 to 12 of 28 entries