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Academic Journal

Pediatric Gliosarcoma With and Without Neurofibromatosis Type 1: A Whole-exome Comparison of 2 Patients.

  • Authors : Graham RT; Division of Neuro-Oncology, St. Jude Children's Research Hospital, Memphis, TN.; Bell EH

Subjects: Exome* ; Mutation*; DNA Modification Methylases/DNA Modification Methylases/DNA Modification Methylases/*genetics

  • Source: Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2021 Nov 01; Vol. 43 (8), pp. e1201-e1204.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9505928 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.

  • Authors : Babić Božović I; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Maver A

Subjects: Exome* ; Mutation*; Biomarkers/Biomarkers/Biomarkers/*metabolism

  • Source: PloS one [PLoS One] 2021 Jun 09; Vol. 16 (6), pp. e0252953. Date of Electronic Publication: 2021 Jun 09 (Print Publication: 2021).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy.

  • Authors : Filatova EV; Institute of Molecular Genetics of National Research Centre, Moscow, Russia.; Krylova NS

Subjects: Exome* ; Mutation*; Cardiomyopathy, Hypertrophic/Cardiomyopathy, Hypertrophic/Cardiomyopathy, Hypertrophic/*genetics

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Nov; Vol. 9 (11), pp. e1808. Date of Electronic Publication: 2021 Oct 01.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Exome sequencing and functional studies in zebrafish identify WDR8 as the causative gene for isolated Microspherophakia in Indian families.

  • Authors : Madhangi M; Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore 560012, India.; Dutta D

Subjects: Exome* ; Mutation*; Corneal Diseases/Corneal Diseases/Corneal Diseases/*pathology Microspherophakia

  • Source: Human molecular genetics [Hum Mol Genet] 2021 Apr 30; Vol. 30 (6), pp. 467-484.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Exome of Radiation-induced Rat Mammary Carcinoma Shows Copy-number Losses and Mutations in Human-relevant Cancer Genes.

  • Authors : Moriyama H; Department of Radiation Effects Research, National Institute of Radiological Sciences (NIRS), National Institutes for Quantum and Radiological Science and Technology (QST), Chiba, Japan.; Department of Radiological Sciences, Graduate School of Human Health Sciences, Tokyo Metropolitan University, Tokyo, Japan.

Subjects: Exome* ; Radiation, Ionizing*; DNA Copy Number Variations/DNA Copy Number Variations/DNA Copy Number Variations/*radiation effects

  • Source: Anticancer research [Anticancer Res] 2021 Jan; Vol. 41 (1), pp. 55-70.Publisher: International Institute of Anticancer Research Country of Publication: Greece NLM ID: 8102988 Publication Model: Print Cited Medium: Internet

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Academic Journal

Annotation of Human Exome Gene Variants with Consensus Pathogenicity.

  • Authors : Jaravine V; Institute of Medical Biometry and Statistics, Faculty of Medicine and Medical Center, University of Freiburg, 79104 Freiburg im Breisgau, Germany.; Balmford J

Subjects: Exome* ; Molecular Sequence Annotation* ; Mutation*

  • Source: Genes [Genes (Basel)] 2020 Sep 14; Vol. 11 (9). Date of Electronic Publication: 2020 Sep 14.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425

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Academic Journal

Reliable Analysis of Clinical Tumor-Only Whole-Exome Sequencing Data.

  • Authors : Oh S; Graduate School of Public Health and Health Policy, City University of New York, New York, NY.; Institute for Implementation Science and Population Health, City University of New York, New York, NY.

Subjects: Algorithms* ; DNA Copy Number Variations* ; Exome*

  • Source: JCO clinical cancer informatics [JCO Clin Cancer Inform] 2020 Apr; Vol. 4, pp. 321-335.Publisher: American Society of Clinical Oncology Country of Publication: United States NLM ID: 101708809 Publication Model: Print Cited Medium: Internet

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Academic Journal

Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe.

Subjects: Exome* ; Genetic Predisposition to Disease* ; Mutation*

  • Source: Advances in medical sciences [Adv Med Sci] 2021 Mar; Vol. 66 (1), pp. 192-198. Date of Electronic Publication: 2021 Mar 09.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101276222 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Identification of known and novel familial cancer genes in Swedish colorectal cancer families.

  • Authors : Helgadottir HT; Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

Subjects: Exome* ; Genetic Predisposition to Disease* ; Mutation*

  • Source: International journal of cancer [Int J Cancer] 2021 Aug 01; Vol. 149 (3), pp. 627-634. Date of Electronic Publication: 2021 Mar 25.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 0042124 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Grandparental genotyping enhances exome variant interpretation.

  • Authors : Daum H; Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.; Mor-Shaked H

Subjects: Genetic Predisposition to Disease* ; Grandparents* ; Mutation*

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Apr; Vol. 182 (4), pp. 689-696. Date of Electronic Publication: 2020 Feb 06.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  9,293 results for ""Exome""