Search Results

Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.

• Authors : Velde HM; DOOFNL Consortium

Subjects: Exome*/Exome*/Exome*/genetics ; Hearing Loss*/Hearing Loss*/Hearing Loss*/genetics ; Pedigree*

• Source: Human genetics [Hum Genet] 2024 Nov; Vol. 143 (11), pp. 1379-1399. Date of Electronic Publication: 2024 Oct 16.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.

• Authors : Vorsteveld EE; all members of the Radboud University Medical Center multidisciplinary immune-disease board

Subjects: Exome Sequencing*/Exome Sequencing*/Exome Sequencing*/methods ; Exome*/Exome*/Exome*/genetics; Humans

• Source: Clinical immunology (Orlando, Fla.) [Clin Immunol] 2024 Nov; Vol. 268, pp. 110375. Date of Electronic Publication: 2024 Oct 05.Publisher: Academic Press Country of Publication: United States NLM ID: 100883537 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

[Exome, genome and incidental findings].

• Authors : Amiel J; Service de Médecine génomique des maladies rares, hôpital Necker-Enfants Malades, Paris.; Héron D

Subjects: Incidental Findings* ; Genome, Human* ; Exome*/Exome*/Exome*/genetics

• Source: Medecine sciences : M/S [Med Sci (Paris)] 2024 Apr; Vol. 40 (4), pp. 377-380. Date of Electronic Publication: 2024 Apr 23.Publisher: EDK Country of Publication: France NLM ID: 8710980 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1958-5381

Record details

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

Record details

Exome-wide comparative analyses revealed differentiating genomic regions for performance traits in Indian native buffaloes.

• Authors : Uttam V; Animal Genetics & Breeding Division, ICAR-National Dairy Research Institute, Karnal, Haryana, India.; Vohra V

Subjects: Buffaloes*/Buffaloes*/Buffaloes*/genetics ; Exome*/Exome*/Exome*/genetics; Animals

• Source: Animal biotechnology [Anim Biotechnol] 2024 Nov; Vol. 35 (1), pp. 2277376. Date of Electronic Publication: 2023 Nov 07.Publisher: Taylor & Francis Country of Publication: England NLM ID: 9011409 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

• Authors : Epi25 Collaborative

Subjects: Epilepsy*/Epilepsy*/Epilepsy*/genetics ; Genetic Predisposition to Disease*/Genetic Predisposition to Disease*/Genetic Predisposition to Disease*/genetics ; Exome Sequencing*

• Source: Nature neuroscience [Nat Neurosci] 2024 Oct; Vol. 27 (10), pp. 1864-1879. Date of Electronic Publication: 2024 Oct 03.Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9809671 Publication Model: Print-Electronic Cited Medium: Internet

Record details

Establishing a Variant Allele Frequency Cutoff for Manual Curation of Medical Exome Sequencing Data.

• Authors : Sears K; Department of Pathology and Laboratory Medicine, University of Kentucky, Lexington, Kentucky.; Hickey C

Subjects: Exome Sequencing*/Exome Sequencing*/Exome Sequencing*/methods ; Polymorphism, Single Nucleotide* ; Gene Frequency*

• Source: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2025 Jan; Vol. 27 (1), pp. 36-41. Date of Electronic Publication: 2024 Oct 18.Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Time to diagnosis in rapid exome/genome sequencing in the clinical inpatient setting.

• Authors : Schildt A; Department of Pediatrics, Division of Medical Genetics, Stanford University, Palo Alto, California, USA.; Stevenson DA

Subjects: Genetic Testing*/Genetic Testing*/Genetic Testing*/methods ; Exome*/Exome*/Exome*/genetics; Humans

• Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Apr; Vol. 194 (4), pp. e63483. Date of Electronic Publication: 2023 Nov 28.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Exome sequencing in a Chinese cohort of children with cerebral palsy identifies likely pathogenic variants.

Subjects: Asian People*/Asian People*/Asian People*/genetics ; Cerebral Palsy*/Cerebral Palsy*/Cerebral Palsy*/genetics ; Exome*/Exome*/Exome*/genetics

• Source: Nature medicine [Nat Med] 2024 May; Vol. 30 (5), pp. 1251-1252.Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print Cited Medium: Internet ISSN:

Record details

Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease.

• Authors : Fadra N; Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.; Schultz-Rogers LE

Subjects: X Chromosome Inactivation* ; Exome*; Adult

• Source: BMC genomics [BMC Genomics] 2024 Apr 16; Vol. 25 (1), pp. 371. Date of Electronic Publication: 2024 Apr 16.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164

Record details