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Academic Journal

Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder.

  • Authors : Bouzid A; Laboratory of Molecular and Cellular Screening Processes, Center of Biotechnology of Sfax, Sfax, Tunisia. .; Research Institute for Medical and Health Sciences, University of Sharjah, Sharjah, United Arab Emirates. .

Subjects: Exome Sequencing*/Exome Sequencing*/Exome Sequencing*/methods ; Genetic Predisposition to Disease*; Humans

  • Source: Scientific reports [Sci Rep] 2025 Jan 02; Vol. 15 (1), pp. 367. Date of Electronic Publication: 2025 Jan 02.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Whole-Exome Sequencing: Discovering Genetic Causes of Granulomatous Mastitis.

  • Authors : Ozcinar B; Department of General Surgery, Istanbul Medical Faculty, Istanbul University, 34093 Istanbul, Türkiye.; Ocak Z

Subjects: Exome Sequencing* ; Granulomatous Mastitis*/Granulomatous Mastitis*/Granulomatous Mastitis*/genetics ; Polymorphism, Single Nucleotide*

  • Source: International journal of molecular sciences [Int J Mol Sci] 2025 Jan 06; Vol. 26 (1). Date of Electronic Publication: 2025 Jan 06.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Analysis of rare coding variants in 470,000 exome-sequenced subjects characterises contributions to risk of type 2 diabetes.

  • Authors : Curtis D; UCL, UCL Genetics Institute, London, United Kingdom.

Subjects: Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/genetics ; Genetic Predisposition to Disease* ; Exome Sequencing*

  • Source: PloS one [PLoS One] 2024 Dec 12; Vol. 19 (12), pp. e0311827. Date of Electronic Publication: 2024 Dec 12 (Print Publication: 2024).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

Whole Exome Sequencing in Children With Type 1 Diabetes Before Age 6 Years Reveals Insights Into Disease Heterogeneity.

  • Authors : Ribeiro AF; Pediatric Endocrinology Unit Hospital de Dona Estefânia São José Local Health Unit, Lisbon, Portugal.; Pediatric Department Hospital Prof. Doutor Fernando Fonseca Amadora Sintra Local Health Unit, Amadora, Portugal.

Subjects: Diabetes Mellitus, Type 1*/Diabetes Mellitus, Type 1*/Diabetes Mellitus, Type 1*/genetics ; Exome Sequencing* ; Genetic Predisposition to Disease*

  • Source: Journal of diabetes research [J Diabetes Res] 2024 Sep 26; Vol. 2024, pp. 3076895. Date of Electronic Publication: 2024 Sep 26 (Print Publication: 2024).Publisher: Wiley Country of Publication: United States NLM ID: 101605237 Publication Model: eCollection Cited Medium: Internet ISSN: 2314-6753

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Academic Journal

Exome sequencing identifies novel genetic variants associated with varicose veins.

  • Authors : Zhang DD; Department of Neurology, Qingdao Municipal Hospital, Qingdao University, Qingdao, China.; He XY

Subjects: Varicose Veins*/Varicose Veins*/Varicose Veins*/genetics ; Exome Sequencing* ; Genome-Wide Association Study*

  • Source: PLoS genetics [PLoS Genet] 2024 Jul 09; Vol. 20 (7), pp. e1011339. Date of Electronic Publication: 2024 Jul 09 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

Discovery of Pathogenic Variants Associated with Idiopathic Recurrent Pregnancy Loss Using Whole-Exome Sequencing.

  • Authors : Lee JY; Department of Biomedical Science, College of Life Science, CHA University, Seongnam 13488, Republic of Korea.; Moon J

Subjects: Exome Sequencing*/Exome Sequencing*/Exome Sequencing*/methods ; Abortion, Habitual*/Abortion, Habitual*/Abortion, Habitual*/genetics ; Genetic Predisposition to Disease*

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 May 17; Vol. 25 (10). Date of Electronic Publication: 2024 May 17.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.

  • Authors : Muret K; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, 91000 Evry, France.; Le Goff V

Subjects: Hidradenitis Suppurativa*/Hidradenitis Suppurativa*/Hidradenitis Suppurativa*/genetics ; Exome Sequencing* ; Amyloid Precursor Protein Secretases*/Amyloid Precursor Protein Secretases*/Amyloid Precursor Protein Secretases*/genetics

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Sep 26; Vol. 25 (19). Date of Electronic Publication: 2024 Sep 26.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Editorial & Opinion

Exome-wide screening identifies novel susceptibility genes for subjective well-being.

  • Authors : Cai Q; Key Laboratory of Trace Elements and Endemic Diseases, National Health and Family Planning Commission; School of Public Health, Health Science Center, Xi'an Jiaotong University, Xi'an, People's Republic of China.

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

  • Source: Psychiatry and clinical neurosciences [Psychiatry Clin Neurosci] 2023 Jul; Vol. 77 (7), pp. 414-415. Date of Electronic Publication: 2023 May 22.Publisher: Blackwell Science Country of Publication: Australia NLM ID: 9513551 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Impact of genomic and epigenomic alterations of multigene on a multicancer pedigree.

  • Authors : Gao J; Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou, China.; Guangdong Provincial Key Laboratory of Single Cell Technology and Application, Southern Medical University, Guangzhou, China.

Subjects: Pedigree* ; Genetic Predisposition to Disease* ; DNA Methylation*

  • Source: Cancer medicine [Cancer Med] 2024 Jul; Vol. 13 (13), pp. e7394.Publisher: John Wiley & Sons Ltd Country of Publication: United States NLM ID: 101595310 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Exome variants associated with asthma and allergy.

  • Authors : Wjst M; Institute of Lung Health and Immunity (LHI), Helmholtz Zentrum München - German Research Center for Environmental Health, Ingolstädter Landstr. 1, 85764, Neuherberg, München, Germany. .; Institut für KI und Informatik in der Medizin, Lehrstuhl für Medizinische Informatik, Klinikum Rechts der Isar, Grillparzerstr. 18, 81675, München, Germany. .

Subjects: Asthma*/Asthma*/Asthma*/genetics ; Dermatitis, Atopic*/Dermatitis, Atopic*/Dermatitis, Atopic*/genetics ; Exome*/Exome*/Exome*/genetics

  • Source: Scientific reports [Sci Rep] 2022 Dec 05; Vol. 12 (1), pp. 21028. Date of Electronic Publication: 2022 Dec 05.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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