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Akademický článek

Development, Validation, and Implementation of an Augmented Multiwell, Multitarget Quantitative PCR for the Analysis of Human Papillomavirus Genotyping through Software Automation, Data Science, and Artificial Intelligence.

Autor: Pereira AR; Laboratory of Molecular Diagnostics, Algemeen Medisch Laboratorium (AML), Sonic Healthcare BeNeLux, Antwerp, Belgium. Electronic address: rita.pereira@aml-lab.be., Redzic N; Laboratory of Molecular Diagnostics, Algemeen Medisch Laboratorium (AML), Sonic Healthcare BeNeLux, Antwerp, Belgium; Applied Molecular Biology Research Group (AMBIOR), Laboratory for Cell Biology and Histology, University of Antwerp, Antwerp, Belgium., Van Vooren S; Velsera, Inc., Charlestown, Massachusetts., Pelak K; Velsera, Inc., Charlestown, Massachusetts., Broekmans A; Velsera, Inc., Charlestown, Massachusetts., Desloovere G; Velsera, Inc., Charlestown, Massachusetts., Vanden Broeck D; Laboratory of Molecular Diagnostics, Algemeen Medisch Laboratorium (AML), Sonic Healthcare BeNeLux, Antwerp, Belgium; Applied Molecular Biology Research Group (AMBIOR), Laboratory for Cell Biology and Histology, University of Antwerp, Antwerp, Belgium; National Reference Centre for HPV, Brussels, Belgium; International Centre for Reproductive Health, Ghent University, Ghent, Belgium., Kehoe K; Laboratory of Molecular Diagnostics, Algemeen Medisch Laboratorium (AML), Sonic Healthcare BeNeLux, Antwerp, Belgium; National Reference Centre for HPV, Brussels, Belgium., Bogers J; Laboratory of Molecular Diagnostics, Algemeen Medisch Laboratorium (AML), Sonic Healthcare BeNeLux, Antwerp, Belgium; Applied Molecular Biology Research Group (AMBIOR), Laboratory for Cell Biology and Histology, University of Antwerp, Antwerp, Belgium; National Reference Centre for HPV, Brussels, Belgium., Coppens A; Laboratory of Molecular Diagnostics, Algemeen Medisch Laboratorium (AML), Sonic Healthcare BeNeLux, Antwerp, Belgium., Vreysen S; Velsera, Inc., Charlestown, Massachusetts., Mailleux J; Velsera, Inc., Charlestown, Massachusetts., Uten W; Velsera, Inc., Charlestown, Massachusetts.

Publikováno v: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2024 Sep; Vol. 26 (9), pp. 781-791. Date of Electronic Publication: 2024 Jul 05.

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Vybrat výsledek číslo 2 2

Akademický článek

Novel TECPR2 variant in two cases of hereditary sensory and autonomic neuropathy type 9: insights from genetic characterization and comprehensive literature review.

Autor: Moeinafshar, Aysan^1,2 (AUTHOR), Tehrani Fateh, Sahand^1,2 (AUTHOR), Hashemi-Gorji, Farzad³ (AUTHOR), Karimzadeh, Parvaneh⁴ (AUTHOR), Gholibeglou, Elham⁵ (AUTHOR), Rostami, Masoumeh¹ (AUTHOR), Sadeghi, Hossein⁶ (AUTHOR), Miryounesi, Mohammad^1,3,6 (AUTHOR) miryounesi@gmail.com, Ghasemi, Mohammad-Reza^1,6 (AUTHOR) ghasemimr891@gmail.com

Publikováno v: BMC Neurology. 11/20/2024, Vol. 24 Issue 1, p1-18. 18p.

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Vybrat výsledek číslo 3 3

A genome-wide association study of resistance to HIV infection in highly exposed uninfected individuals with hemophilia A

Autor: Lane, J., Mclaren, P. J., Dorrell, L., Shianna, K. V., Stemke, A., Pelak, K., Moore, S., Oldenburg, J., Alvarez-Roman, M. T., Angelillo-Scherrer, A., Boehlen, F., Bolton-Maggs, P. H. B., Brand, B., Brown, D., Chiang, E., Cid-Haro, A. R., Clotet, B., Collins, P., Colombo, S., Dalmau, J., Fogarty, P., Giangrande, P., Gringeri, A., Iyer, R., Katsarou, O., Kempton, C., Kuriakose, P., Lin, J., Makris, M., Manco-Johnson, M., Tsakiris, D. A., Martinez-Picado, J., Mauser-Bunschoten, E., Neff, A., Oka, S., Oyesiku, L., Parra, R., Peter-Salonen, K., Powell, J., Recht, M., Shapiro, A., Stine, K., Talks, K., Telenti, A., Wilde, J., Yee, T. T., Wolinsky, S. M., Martinson, J., Hussain, S. K., Bream, J. H., Jacobson, L. P., Carrington, M., Goedert, J. J., Haynes, B. F., Mcmichael, A. J., Goldstein, D. B., Fellay, J., NIAID Ctr HIV AIDS Vaccine

Publikováno v: HUMAN MOLECULAR GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

Human genetic variation contributes to differences in susceptibility to HIV-1 infection. To search for novel host resistance factors, we performed a genome-wide association study (GWAS) in hemophilia patients highly exposed to potentially contaminate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8d5d7776b5a85de58ba3c49125197632
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=2163

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Vybrat výsledek číslo 4 4

Correction: Copy Number Variation of KIR Genes Influences HIV-1 Control

Autor: Pelak, K, Need, A, Fellay, J, Shianna, K, Feng, S, Urban, T, Ge, D, De Luca, A, Martinez-Picado, J, Wolinsky, S, Martinson, J, Jamieson, B, Bream, J, Martin, M, Borrow, P, Letvin, N, McMichael, A, Haynes, B, Telenti, A, Carrington, M, Goldstein, D, Alter, G, (CHAVI), on behalf of NIAID Center for HIV/AIDS Vaccine Immunology

Publikováno v: PLoS Biology, Vol 9, Iss 12 (2011)
PLoS Biology

The affiliation for the twentieth author was incorrect. Mary Carrington is not affiliated with #10 but with #12 Cancer and Inflammation Program, Laboratory of Experimental Immunology, SAIC-Frederick, Inc., NCI-Frederick, Frederick, Maryland, United S

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::989bbcaf35cd6a349428fc82835af50c
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3242803/?tool=EBI

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Vybrat výsledek číslo 5 5

Akademický článek

A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review.

Autor: Jahanpanah, Mohammad¹ (AUTHOR), Mokhtari, Diana¹ (AUTHOR), Mokaber, Haleh² (AUTHOR), Arish, Sara¹ (AUTHOR), Ahmadabadi, Farzad³ (AUTHOR) f.ahmadabadi@arums.ac.ir, Davarnia, Behzad¹ (AUTHOR) b.davarnia@arums.ac.ir

Publikováno v: Molecular Genetics & Genomic Medicine. Apr2024, Vol. 12 Issue 4, p1-12. 12p.

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Vybrat výsledek číslo 6 6

Akademický článek

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Vybrat výsledek číslo 7 7

Akademický článek

A Comprehensive Analysis of 3 Moroccan Genomes Revealed Contributions From Both African and European Ancestries.

Autor: Boumajdi, Nasma^1,2 (AUTHOR), Bendani, Houda^1,2 (AUTHOR), Kartti, Souad^1,2 (AUTHOR), Alouane, Tarek¹ (AUTHOR), Belyamani, Lahcen^2,3,4 (AUTHOR), Ibrahimi, Azeddine^1,2,3 (AUTHOR) a.ibrahimi@um5r.ac.ma

Publikováno v: Evolutionary Bioinformatics. 2/6/2024, p1-9. 9p.

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Vybrat výsledek číslo 8 8

Akademický článek

Integrated genomic DNA/RNA profiling of hematologic malignancies in the clinical setting.

Autor: He J; Foundation Medicine, Cambridge, MA;, Abdel-Wahab O; Leukemia Service, Department of Medicine, Human Oncology and Pathogenesis Program., Nahas MK; Foundation Medicine, Cambridge, MA;, Wang K; Foundation Medicine, Cambridge, MA;, Rampal RK; Leukemia Service, Department of Medicine, Human Oncology and Pathogenesis Program., Intlekofer AM; Cancer Biology and Genetics Program, Lymphoma Service, Department of Medicine., Patel J; Human Oncology and Pathogenesis Program., Krivstov A; Cancer Biology and Genetics Program, Leukemia Center, Department of Pediatrics, and., Frampton GM; Foundation Medicine, Cambridge, MA;, Young LE; Foundation Medicine, Cambridge, MA;, Zhong S; Foundation Medicine, Cambridge, MA;, Bailey M; Foundation Medicine, Cambridge, MA;, White JR; Foundation Medicine, Cambridge, MA;, Roels S; Foundation Medicine, Cambridge, MA;, Deffenbaugh J; Foundation Medicine, Cambridge, MA;, Fichtenholtz A; Foundation Medicine, Cambridge, MA;, Brennan T; Foundation Medicine, Cambridge, MA;, Rosenzweig M; Foundation Medicine, Cambridge, MA;, Pelak K; Foundation Medicine, Cambridge, MA;, Knapp KM; Leukemia Center., Brennan KW; Foundation Medicine, Cambridge, MA;, Donahue AL; Foundation Medicine, Cambridge, MA;, Young G; Foundation Medicine, Cambridge, MA;, Garcia L; Foundation Medicine, Cambridge, MA;, Beckstrom ST; Foundation Medicine, Cambridge, MA;, Zhao M; Foundation Medicine, Cambridge, MA;, White E; Foundation Medicine, Cambridge, MA;, Banning V; Foundation Medicine, Cambridge, MA;, Buell J; Foundation Medicine, Cambridge, MA;, Iwanik K; Foundation Medicine, Cambridge, MA;, Ross JS; Foundation Medicine, Cambridge, MA;, Morosini D; Foundation Medicine, Cambridge, MA;, Younes A; Lymphoma Service, Department of Medicine., Hanash AM; Bone Marrow Transplant Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY;, Paietta E; Department of Medicine (Oncology), Albert Einstein College of Medicine, Yeshiva University, New York, NY;, Roberts K; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN;, Mullighan C; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN;, Dogan A; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY;, Armstrong SA; Cancer Biology and Genetics Program, Leukemia Center, Department of Pediatrics, and., Mughal T; Foundation Medicine, Cambridge, MA; Division of Hematology and Oncology, Tufts University Medical Center, Boston, MA; and., Vergilio JA; Foundation Medicine, Cambridge, MA;, Labrecque E; Foundation Medicine, Cambridge, MA;, Erlich R; Foundation Medicine, Cambridge, MA;, Vietz C; Foundation Medicine, Cambridge, MA;, Yelensky R; Foundation Medicine, Cambridge, MA;, Stephens PJ; Foundation Medicine, Cambridge, MA;, Miller VA; Foundation Medicine, Cambridge, MA;, van den Brink MR; Bone Marrow Transplant Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY; Division of Hematologic Oncology, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY., Otto GA; Foundation Medicine, Cambridge, MA;, Lipson D; Foundation Medicine, Cambridge, MA;, Levine RL; Leukemia Service, Department of Medicine, Human Oncology and Pathogenesis Program, Leukemia Center.

Publikováno v: Blood [Blood] 2016 Jun 16; Vol. 127 (24), pp. 3004-14. Date of Electronic Publication: 2016 Mar 10.

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Vybrat výsledek číslo 9 9

Akademický článek

Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data.