Human Mutation
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#1Eric Olinger (Newcastle University)H-Index: 13
#2Intisar Al Alawi (Newcastle University)H-Index: 2
Last. Naif A.M. Almontashiri (Taibah University)H-Index: 11
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Half of patients with a ciliopathy syndrome remain unsolved after initial analysis of whole exome sequencing (WES) data, highlighting the need for improved variant filtering and annotation. By candidate gene curation of WES data, combined with homozygosity mapping, we detected a homozygous predicted synonymous allele in NPHP3 in 2 children with hepatorenal fibrocystic disease from a consanguineous family. Analyses on patient-derived RNA shows activation of a cryptic mid-exon splice donor leading...
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#1Anna Marcé-Grau (Autonomous University of Barcelona)H-Index: 8
#2Xabier Elorza-Vidal (University of Barcelona)H-Index: 7
Last. Alfons Macaya (Autonomous University of Barcelona)H-Index: 34
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De novo rare damaging variants in genes involved in critical developmental pathways, notably regulation of synaptic transmission, have emerged as a frequent cause of neurodevelopmental disorders (NDD). NDD show great locus heterogeneity and for many of the associated genes there is substantial phenotypic diversity, including epilepsy, intellectual disability, autism spectrum disorder, movement disorders and combinations thereof. We report two unrelated patients, a young girl with early-onset ref...
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#1Keith NykampH-Index: 7
#2Rebecca TrutyH-Index: 13
Last. Swaroop AradhyaH-Index: 29
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Biallelic pathogenic variants in CFTR manifest as cystic fibrosis (CF) or other CFTR-related disorders (CFTR-RDs). The 5T allele, causing alternative splicing and reduced protein activity, is modulated by the adjacent TG repeat element, though previous data have been limited to small, selective cohorts. Here, the risk and spectrum of phenotypes associated with the CFTR TG-T5 haplotype variants (TG11T5, TG12T5, and TG13T5) in the absence of the p.Arg117His variant are evaluated. Individuals who r...
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#1Adnan H Khan (University Hospital Southampton NHS Foundation Trust)
#2Janice Sutton (University of Southampton)
Last. Peter Charbel Issa (John Radcliffe Hospital)H-Index: 44
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Rare variants in the complement factor I (CFI) gene, associated with low serum factor I (FI) levels, are strong risk factors for developing the advanced stages of age-related macular degeneration (AMD). No studies have been undertaken on the prevalence of disease-causing CFI mutations in patients with geographic atrophy (GA) secondary to AMD. A multicenter, cross-sectional, noninterventional study was undertaken to identify the prevalence of pathogenic rare CFI gene variants in an unselected coh...
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#1Alexandra FilatovaH-Index: 3
Last. Mikhail SkoblovH-Index: 12
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Congenital aniridia (AN) is a severe autosomal dominant panocular disorder associated with pathogenic variants in the PAX6 gene. Previously, we performed a molecular genetic study of a large cohort of Russian patients with AN and revealed four noncoding nucleotide variants in the PAX6 5'UTR. 14 additional PAX6-5'UTR variants were also reported in the literature, but the mechanism of their pathogenicity remained unclear. In the present study, we experimentally analyze five patient-derived PAX6 5'...
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#1Despoina Kalfakakou (A.U.Th.: Aristotle University of Thessaloniki)
#2Florentia FostiraH-Index: 6
Last. Drakoulis YannoukakosH-Index: 46
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National genetic variation registries vastly increase the level of detail for the relevant population, while directly affecting patient management. Herein, we report CanVaS, a Cancer Variation reSource aiming to document the genetic variation of cancer patients in Greece. CanVaS comprises germline genetic data from 7,363 Greek individuals with a personal and/or family history of malignancy. The data set incorporates approximately 24,000 functionally annotated rare variants in 97 established or s...
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#1Mads Godtfeldt Stemmerik (UCPH: University of Copenhagen)H-Index: 4
#2Josefine de Stricker Borch (UCPH: University of Copenhagen)H-Index: 4
Last. John Vissing (UCPH: University of Copenhagen)H-Index: 63
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T1-weighted, cross-sectional MR images showing shoulder girdle, abdominal, paraspinal, gluteal and thigh muscles almost completely replaced by fat, whereas lower leg muscles are almost unaffected i a patient who is compound heterozygous for pathogenic variants in GOSR2.
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#1Francesca Semino (Heidelberg University)
#2Julian Schröter (University Hospital Heidelberg)H-Index: 3
Last. Georg F. Hoffmann (University Hospital Heidelberg)H-Index: 96
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SYNCRIP encodes for the Synaptotagmin-binding cytoplasmic RNA-interacting protein, involved in RNA-binding and regulation of multiple cellular pathways. It has been proposed as a candidate gene for neurodevelopmental disorders (NDDs) with autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy. We ascertained genetic, clinical, and neuroradiological data of three additional individuals with novel de novo SYNCRIP variants. All individuals had ID. Autistic features were observed...
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#1Meenal Gupta (UofU: University of Utah)H-Index: 12
#2Xiangfei Liu (UF: University of Florida)H-Index: 5
Last. Patrick Concannon (UF: University of Florida)H-Index: 77
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The study of genetic syndromes characterized by sensitivity to DNA damaging agents has provided important insights into the mechanisms that maintain genome stability and identified novel targets for cancer therapies. Here, we used exome sequencing to study 51 unrelated individuals with previously reported hypersensitivity to ionizing radiation as well as a range of neurologic, immunologic, and developmental features, but who did not clearly fit any previously defined genetic syndrome. Based on t...
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#1Mourad Wagdy Ali (UVA: University of Virginia)H-Index: 8
#2C. Pawan K. Patro (SC: University of Southern California)H-Index: 1
Last. Graham Casey (UVA: University of Virginia)H-Index: 24
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Genome-wide association studies have identified SNPs associated with glioma risk on 9p21.3, but biological mechanisms underlying this association are unknown. We tested the hypothesis that a functional SNP on 9p21.3 affects activity of an enhancer, causing altered expression of nearby genes. We considered all SNPs in linkage disequilibrium with the 9p21.3 sentinel SNP rs634537 that mapped to putative enhancers. An enhancer containing rs1537372 exhibited allele-specific effects on luciferase acti...
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