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Academic Journal

Assessment of whole-exome sequencing results in neurogenetic diseases.

Subjects: Exome*/Exome*/Exome*/genetics ; Undiagnosed Diseases*/Undiagnosed Diseases*/Undiagnosed Diseases*/genetics; Child

  • Source: Journal of human genetics [J Hum Genet] 2023 Dec; Vol. 68 (12), pp. 797-804. Date of Electronic Publication: 2023 Jul 31.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Exome sequencing identifies a novel nonsense mutation of Ring Finger Protein 207 in a Chinese family with Long QT syndrome and syncope.

  • Authors : Fan LL; Department of Cell Biology, The School of Life Sciences, Central South University, Changsha, 410013, China.; Chen YQ

Subjects: Codon, Nonsense* ; Exome*; Asian People/Asian People/Asian People/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2019 Mar; Vol. 64 (3), pp. 233-238. Date of Electronic Publication: 2018 Dec 12.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes.

  • Authors : Chetruengchai W; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

Subjects: Exome*/Exome*/Exome*/genetics ; Genomics*; Genetic Testing

  • Source: Journal of human genetics [J Hum Genet] 2022 Mar; Vol. 67 (3), pp. 137-142. Date of Electronic Publication: 2021 Oct 08.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases.

  • Authors : Kato D; Department of Genomic Function and Diversity, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan.; Daiichi Sankyo Co., Ltd., Tokyo, Japan.

Subjects: Exome* ; Genetic Testing*; Humans

  • Source: Journal of human genetics [J Hum Genet] 2022 Dec; Vol. 67 (12), pp. 739-742. Date of Electronic Publication: 2022 Aug 09.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Editorial & Opinion

A commentary on actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes.

  • Authors : Johnston JJ; Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. .; Yoo S

Subjects: Exome* ; Genetic Testing*; Genetic Variation

  • Source: Journal of human genetics [J Hum Genet] 2022 Oct; Vol. 67 (10), pp. 617-619. Date of Electronic Publication: 2022 May 09.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD).

Subjects: Exome* ; High-Throughput Nucleotide Sequencing*; Aortic Dissection/Aortic Dissection/Aortic Dissection/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2018 Nov; Vol. 63 (11), pp. 1119-1128. Date of Electronic Publication: 2018 Aug 16.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus.

  • Authors : Zhang W; Clinical Center for Gene Diagnosis and Therapy, Changsha, China.; Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Changsha, China.

Subjects: Mutation*; Carrier Proteins/Carrier Proteins/Carrier Proteins/*genetics ; Ciliary Motility Disorders/Ciliary Motility Disorders/Ciliary Motility Disorders/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2019 Mar; Vol. 64 (3), pp. 249-252. Date of Electronic Publication: 2018 Nov 30.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny.

  • Authors : Ullah A; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Islamabad, Pakistan.; Umair M

Subjects: Codon, Nonsense* ; Exome*; Craniofacial Abnormalities/Craniofacial Abnormalities/Craniofacial Abnormalities/*genetics Frontonasal dysplasia

  • Source: Journal of human genetics [J Hum Genet] 2018 Jan; Vol. 63 (1), pp. 97-100. Date of Electronic Publication: 2017 Nov 16.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Comparison of exome-based HLA class I genotyping tools: identification of platform-specific genotyping errors.

  • Authors : Kiyotani K; Section of Hematology/Oncology, Department of Medicine, The University of Chicago, Chicago, IL, USA.; Mai TH

Subjects: Algorithms* ; Exome*; Genotyping Techniques/Genotyping Techniques/Genotyping Techniques/*standards

  • Source: Journal of human genetics [J Hum Genet] 2017 Mar; Vol. 62 (3), pp. 397-405. Date of Electronic Publication: 2016 Nov 24.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder.

  • Authors : Hashimoto R; Molecular Research Center for Children's Mental Development, United Graduate School of Child Development, Osaka University, Osaka, Japan.; Department of Psychiatry, Osaka University Graduate School of Medicine, Osaka, Japan.

Subjects: Exome* ; Neurites* ; Sequence Analysis*

  • Source: Journal of human genetics [J Hum Genet] 2016 Mar; Vol. 61 (3), pp. 199-206. Date of Electronic Publication: 2015 Nov 19.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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