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Items: 1 to 20 of 142

1.

Comparative characterization of human induced pluripotent stem cells (hiPSC) derived from patients with schizophrenia and autism.

Grunwald LM, Stock R, Haag K, Buckenmaier S, Eberle MC, Wildgruber D, Storchak H, Kriebel M, Weißgraeber S, Mathew L, Singh Y, Loos M, Li KW, Kraushaar U, Fallgatter AJ, Volkmer H.

Transl Psychiatry. 2019 Jul 29;9(1):179. doi: 10.1038/s41398-019-0517-3.

2.

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.

Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ.

Am J Hum Genet. 2019 Jul 3;105(1):151-165. doi: 10.1016/j.ajhg.2019.05.016. Epub 2019 Jun 20.

3.

ExpansionHunter: A sequence-graph based tool to analyze variation in short tandem repeat regions.

Dolzhenko E, Deshpande V, Schlesinger F, Krusche P, Petrovski R, Chen S, Emig-Agius D, Gross A, Narzisi G, Bowman B, Scheffler K, van Vugt JJFA, French C, Sanchis-Juan A, Ibáñez K, Tucci A, Lajoie B, Veldink JH, Raymond FL, Taft RJ, Bentley DR, Eberle MA.

Bioinformatics. 2019 May 27. pii: btz431. doi: 10.1093/bioinformatics/btz431. [Epub ahead of print]

PMID:
31134279
4.

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.

Wright GEB, Collins JA, Kay C, McDonald C, Dolzhenko E, Xia Q, Bečanović K, Drögemöller BI, Semaka A, Nguyen CM, Trost B, Richards F, Bijlsma EK, Squitieri F, Ross CJD, Scherer SW, Eberle MA, Yuen RKC, Hayden MR.

Am J Hum Genet. 2019 Jun 6;104(6):1116-1126. doi: 10.1016/j.ajhg.2019.04.007. Epub 2019 May 16.

PMID:
31104771
5.

Flow network tracking for spatiotemporal and periodic point matching: Applied to cardiac motion analysis.

Parajuli N, Lu A, Ta K, Stendahl J, Boutagy N, Alkhalil I, Eberle M, Jeng GS, Zontak M, O'Donnell M, Sinusas AJ, Duncan JS.

Med Image Anal. 2019 Jul;55:116-135. doi: 10.1016/j.media.2019.04.007. Epub 2019 Apr 18.

PMID:
31055125
6.

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.

van Kuilenburg ABP, Tarailo-Graovac M, Richmond PA, Drögemöller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, Dolzhenko E, Eberle MA, Hayward B, Jones MJ, Karbassi F, Kobor MS, Koster J, Kumari D, Li M, MacIsaac J, McDonald C, Meijer J, Nguyen C, Rajan-Babu IS, Scherer SW, Sim B, Trost B, Tseng LA, Turkenburg M, van Vugt JJFA, Veldink JH, Walia JS, Wang Y, van Weeghel M, Wright GEB, Xu X, Yuen RKC, Zhang J, Ross CJ, Wasserman WW, Geraghty MT, Santra S, Wanders RJA, Wen XY, Waterham HR, Usdin K, van Karnebeek CDM.

N Engl J Med. 2019 Apr 11;380(15):1433-1441. doi: 10.1056/NEJMoa1806627.

PMID:
30970188
7.

Author Correction: Best practices for benchmarking germline small-variant calls in human genomes.

Krusche P, Trigg L, Boutros PC, Mason CE, De La Vega FM, Moore BL, Gonzalez-Porta M, Eberle MA, Tezak Z, Lababidi S, Truty R, Asimenos G, Funke B, Fleharty M, Chapman BA, Salit M, Zook JM; Global Alliance for Genomics and Health Benchmarking Team.

Nat Biotechnol. 2019 May;37(5):567. doi: 10.1038/s41587-019-0108-0.

PMID:
30899106
8.

Best practices for benchmarking germline small-variant calls in human genomes.

Krusche P, Trigg L, Boutros PC, Mason CE, De La Vega FM, Moore BL, Gonzalez-Porta M, Eberle MA, Tezak Z, Lababidi S, Truty R, Asimenos G, Funke B, Fleharty M, Chapman BA, Salit M, Zook JM; Global Alliance for Genomics and Health Benchmarking Team.

Nat Biotechnol. 2019 May;37(5):555-560. doi: 10.1038/s41587-019-0054-x. Epub 2019 Mar 11. Erratum in: Nat Biotechnol. 2019 Mar 21;:.

PMID:
30858580
9.

Evidence for two distinct domains of negative symptoms: Confirming the factorial structure of the CAINS.

Richter J, Hesse K, Schreiber L, Burmeister CP, Eberle MC, Eckstein KN, Zimmermann L, Wildgruber D, Klingberg S.

Psychiatry Res. 2019 Jan;271:693-701. doi: 10.1016/j.psychres.2018.12.043. Epub 2018 Dec 8.

PMID:
30791343
10.

Self-assessment of negative symptoms - Critical appraisal of the motivation and pleasure - Self-report's (MAP-SR) validity and reliability.

Richter J, Hesse K, Eberle MC, Eckstein KN, Zimmermann L, Schreiber L, Burmeister CP, Wildgruber D, Klingberg S.

Compr Psychiatry. 2019 Jan;88:22-28. doi: 10.1016/j.comppsych.2018.10.007. Epub 2018 Oct 30.

11.

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.

Gross AM, Ajay SS, Rajan V, Brown C, Bluske K, Burns NJ, Chawla A, Coffey AJ, Malhotra A, Scocchia A, Thorpe E, Dzidic N, Hovanes K, Sahoo T, Dolzhenko E, Lajoie B, Khouzam A, Chowdhury S, Belmont J, Roller E, Ivakhno S, Tanner S, McEachern J, Hambuch T, Eberle M, Hagelstrom RT, Bentley DR, Perry DL, Taft RJ.

Genet Med. 2019 May;21(5):1121-1130. doi: 10.1038/s41436-018-0295-y. Epub 2018 Oct 8.

PMID:
30293986
12.

Artificial nutrition in patients with cancer has no impact on tumour glucose metabolism: Results of the PETANC Study.

Deshayes E, de Forges H, Fraisse J, Eberlé MC, Guillemard S, Fallières A, Pouget JP, Tétreau R, Kotzki PO, Santoro L, Senesse P, Flori N.

Clin Nutr. 2018 Aug 31. pii: S0261-5614(18)32427-0. doi: 10.1016/j.clnu.2018.08.033. [Epub ahead of print]

PMID:
30209026
13.

Effect of Buparlisib, a Pan-Class I PI3K Inhibitor, in Refractory Follicular and Poorly Differentiated Thyroid Cancer.

Borson-Chazot F, Dantony E, Illouz F, Lopez J, Niccoli P, Wassermann J, Do Cao C, Leboulleux S, Klein M, Tabarin A, Eberle MC, Benisvy D, de la Fouchardière C, Bournaud C, Lasolle H, Delahaye A, Rabilloud M, Lapras V, Decaussin-Petrucci M, Schlumberger M.

Thyroid. 2018 Sep;28(9):1174-1179. doi: 10.1089/thy.2017.0663.

PMID:
30105951
14.

Hsa-miR-99b/let-7e/miR-125a Cluster Regulates Pathogen Recognition Receptor-Stimulated Suppressive Antigen-Presenting Cells.

Hildebrand D, Eberle ME, Wölfle SM, Egler F, Sahin D, Sähr A, Bode KA, Heeg K.

Front Immunol. 2018 Jun 18;9:1224. doi: 10.3389/fimmu.2018.01224. eCollection 2018.

15.

Detection of long repeat expansions from PCR-free whole-genome sequence data.

Dolzhenko E, van Vugt JJFA, Shaw RJ, Bekritsky MA, van Blitterswijk M, Narzisi G, Ajay SS, Rajan V, Lajoie BR, Johnson NH, Kingsbury Z, Humphray SJ, Schellevis RD, Brands WJ, Baker M, Rademakers R, Kooyman M, Tazelaar GHP, van Es MA, McLaughlin R, Sproviero W, Shatunov A, Jones A, Al Khleifat A, Pittman A, Morgan S, Hardiman O, Al-Chalabi A, Shaw C, Smith B, Neo EJ, Morrison K, Shaw PJ, Reeves C, Winterkorn L, Wexler NS; US–Venezuela Collaborative Research Group, Housman DE, Ng CW, Li AL, Taft RJ, van den Berg LH, Bentley DR, Veldink JH, Eberle MA.

Genome Res. 2017 Nov;27(11):1895-1903. doi: 10.1101/gr.225672.117. Epub 2017 Sep 8.

16.

IL-1β As Mediator of Resolution That Reprograms Human Peripheral Monocytes toward a Suppressive Phenotype.

Giesbrecht K, Eberle ME, Wölfle SJ, Sahin D, Sähr A, Oberhardt V, Menne Z, Bode KA, Heeg K, Hildebrand D.

Front Immunol. 2017 Aug 3;8:899. doi: 10.3389/fimmu.2017.00899. eCollection 2017.

17.

A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree.

Eberle MA, Fritzilas E, Krusche P, Källberg M, Moore BL, Bekritsky MA, Iqbal Z, Chuang HY, Humphray SJ, Halpern AL, Kruglyak S, Margulies EH, McVean G, Bentley DR.

Genome Res. 2017 Jan;27(1):157-164. doi: 10.1101/gr.210500.116. Epub 2016 Nov 30.

18.

Effects of cue modality and emotional category on recognition of nonverbal emotional signals in schizophrenia.

Vogel BD, Brück C, Jacob H, Eberle M, Wildgruber D.

BMC Psychiatry. 2016 Jul 7;16:218. doi: 10.1186/s12888-016-0913-7.

19.

Apgar Scores Are Associated with Attention-Deficit/Hyperactivity Disorder Symptom Severity.

Grizenko N, Eberle ML, Fortier ME, Côté-Corriveau G, Jolicoeur C, Joober R.

Can J Psychiatry. 2016 May;61(5):283-90. doi: 10.1177/0706743716635544. Epub 2016 Feb 23.

20.

Integration of verbal and nonverbal emotional signals in patients with schizophrenia: Decreased nonverbal dominance.

Vogel B, Brück C, Jacob H, Eberle M, Wildgruber D.

Psychiatry Res. 2016 Jul 30;241:98-103. doi: 10.1016/j.psychres.2016.03.050. Epub 2016 Apr 2.

PMID:
27156031

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