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The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 1, p. 82, doi. 10.1111/cge.14508
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- Publication type:
- Article
Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 12, p. 6540, doi. 10.3390/ijms25126540
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- Publication type:
- Article
Effect of clinical whole exome sequencing in aetiological investigation and reproductive risk prediction for a couple with monogenic inherited diseases.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1364769
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- Publication type:
- Article
Whole-genome sequencing identifies variants in ANK1, LRRN1, HAS1, and other genes and regulatory regions for stroke in type 1 diabetes.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-61840-7
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- Publication type:
- Article
A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis.
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- American Journal of Respiratory Cell & Molecular Biology, 2024, v. 70, n. 6, p. 437, doi. 10.1165/rcmb.2024-0009MA
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- Publication type:
- Article
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 6, p. 676, doi. 10.1111/cge.14505
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- Publication type:
- Article
A novel AUTS2 Variant in a Patient with Global Developmental Delay and Intellectual Disability.
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- Jordan Journal of Biological Sciences, 2024, v. 17, n. 2, p. 217, doi. 10.54319/jjbs/170201
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- Article
Knockout mice with pituitary malformations help identify human cases of hypopituitarism.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01347-y
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- Publication type:
- Article
An efficient molecular genetic testing strategy for incontinentia pigmenti based on single-tube long fragment read sequencing.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00421-z
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- Publication type:
- Article
Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype.
- Published in:
- Molecular Genetics & Genomics, 2024, v. 299, n. 1, p. 1, doi. 10.1007/s00438-024-02150-5
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- Publication type:
- Article
Exome sequencing in four families with neurodevelopmental disorders: genotype–phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.
- Published in:
- Molecular Genetics & Genomics, 2024, v. 299, n. 1, p. 1, doi. 10.1007/s00438-024-02149-y
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- Publication type:
- Article
Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-62009-y
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- Publication type:
- Article
Retinoic Acid-Induced 1 gene variants associated with Smith–Magenis syndrome circadian phenotypes enriched in autism spectrum disorder: whole-genome sequencing study.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00508-3
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- Publication type:
- Article
Exploring the role of HLA variants in neuroblastoma susceptibility through whole exome sequencing.
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- HLA: Immune Response Genetics, 2024, v. 103, n. 5, p. 1, doi. 10.1111/tan.15515
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- Publication type:
- Article
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders.
- Published in:
- Frontiers in Molecular Neuroscience, 2024, p. 1, doi. 10.3389/fnmol.2024.1268013
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- Publication type:
- Article
Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants.
- Published in:
- Frontiers in Endocrinology, 2024, p. 01, doi. 10.3389/fendo.2024.1343977
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- Publication type:
- Article
GAUSS: a summary-statistics-based R package for accurate estimation of linkage disequilibrium for variants, Gaussian imputation, and TWAS analysis of cosmopolitan cohorts.
- Published in:
- Bioinformatics, 2024, v. 40, n. 4, p. 1, doi. 10.1093/bioinformatics/btae203
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- Publication type:
- Article
Elucidating the Role of OXPHOS Variants in Asthenozoospermia: Insights from Whole Genome Sequencing and an In Silico Analysis.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 7, p. 4121, doi. 10.3390/ijms25074121
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- Publication type:
- Article
Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2441
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- Publication type:
- Article
Novel mutations in FLVCR1 cause tremors, sensory neuropathy with retinitis pigmentosa.
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- Neuropathology, 2024, v. 44, n. 2, p. 87, doi. 10.1111/neup.12936
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- Publication type:
- Article
Genomic susceptibility to gastric cancer in Northwest Iran: population-based and case–control studies.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00474-w
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- Publication type:
- Article
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00411-1
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- Publication type:
- Article
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01316-5
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- Publication type:
- Article
Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1341272
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- Publication type:
- Article
Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1352063
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- Publication type:
- Article
Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth disease expand NARS1-associated diseases.
- Published in:
- Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae070
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- Publication type:
- Article
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
- Published in:
- Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae056
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- Publication type:
- Article
Germline genetic variants in Turkish familial multiple myeloma/monoclonal gammopathy of undetermined significance cases.
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- British Journal of Haematology, 2024, v. 204, n. 3, p. 931, doi. 10.1111/bjh.19271
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- Article
Genetic diagnosis of Alport syndrome in 16 Chinese families.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 3, p. 1, doi. 10.1002/mgg3.2406
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- Publication type:
- Article
Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry.
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- BMC Genomics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12864-024-09990-w
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- Article
Unraveling the Genetic Landscape of Neurological Disorders: Insights into Pathogenesis, Techniques for Variant Identification, and Therapeutic Approaches.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 4, p. 2320, doi. 10.3390/ijms25042320
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- Publication type:
- Article
Screening for Rare Mitochondrial Genome Variants Reveals a Potentially Novel Association between MT-CO1 and MT-TL2 Genes and Diabetes Phenotype.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 4, p. 2438, doi. 10.3390/ijms25042438
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- Publication type:
- Article
Novel mutation as a cause of anterior segment dysgenesis leading to blindness in progeny: the genetics decoded!
- Published in:
- Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00493-7
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- Publication type:
- Article
Rare subclonal sequencing of breast cancers indicates putative metastatic driver mutations are predominately acquired after dissemination.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01293-9
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- Publication type:
- Article
Oligogenic basis of premature ovarian insufficiency: an observational study.
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- Journal of Ovarian Research, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13048-024-01351-1
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- Article
Characterization of seven novel HLA‐DPA1*01:03:01 non‐coding variants by next‐generation sequencing.
- Published in:
- 2024
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- Publication type:
- Editorial
Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder.
- Published in:
- Human Genetics, 2024, v. 143, n. 2, p. 169, doi. 10.1007/s00439-023-02636-z
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- Publication type:
- Article
The Pathogenic RET Val804Met Variant in Acromegaly: A New Clinical Phenotype?
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 3, p. 1895, doi. 10.3390/ijms25031895
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- Publication type:
- Article
S-Gene Target Failure as an Effective Tool for Tracking the Emergence of Dominant SARS-CoV-2 Variants in Switzerland and Liechtenstein, Including Alpha, Delta, and Omicron BA.1, BA.2, and BA.4/BA.5.
- Published in:
- Microorganisms, 2024, v. 12, n. 2, p. 321, doi. 10.3390/microorganisms12020321
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- Article
In silico analysis of mutation spectrum of Ehlers–Danlos, osteogenesis imperfecta, and cutis laxa overlapping phenotypes in Iranian population.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00479-5
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- Publication type:
- Article
Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants.
- Published in:
- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00391-2
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- Publication type:
- Article
Integration of multi-omics technologies for molecular diagnosis in ataxia patients.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1304711
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- Publication type:
- Article
Assessment of Genetic Stability in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes by Using Droplet Digital PCR.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 2, p. 1101, doi. 10.3390/ijms25021101
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- Publication type:
- Article
Human phenotype caused by biallelic KDM4B frameshift variant.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 1, p. 72, doi. 10.1111/cge.14409
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- Publication type:
- Article
Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 1, p. 106, doi. 10.1111/cge.14444
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- Publication type:
- Article
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 1, p. 495, doi. 10.3390/ijms25010495
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- Publication type:
- Article
A further case of AFG2B‐related neurodevelopmental disorder with hearing loss and microcephaly allows further clarification of pathogenicity of the variant c.1313T>C, p.(Leu438Pro).
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2310
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- Publication type:
- Article
Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2342
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- Publication type:
- Article
First preimplantation genetic testing case of Meckel syndrome with a novel homozygous TXNDC15 variant in a non‐consanguineous Chinese family.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2340
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- Publication type:
- Article
Case report: Genetic analysis of a novel intronic inversion variant in the SPTB gene associated with hereditary spherocytosis.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1309040
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- Publication type:
- Article