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Rare Variants in Inborn Errors of Immunity Genes Associated With Covid-19 Severity.
- Published in:
- Frontiers in Cellular & Infection Microbiology, 2022, v. 12, p. 1, doi. 10.3389/fcimb.2022.888582
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- Article
SMYD1 is the underlying gene for the AnWj‐negative blood group phenotype.
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- European Journal of Haematology, 2018, v. 101, n. 4, p. 496, doi. 10.1111/ejh.13133
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- Article
Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.
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- Neurogenetics, 2013, v. 14, n. 3/4, p. 247, doi. 10.1007/s10048-013-0371-z
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- Article
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
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- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-38007-2
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- Article
CMDB: the comprehensive population genome variation database of China.
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- Nucleic Acids Research, 2023, v. 51, n. D1, p. D890, doi. 10.1093/nar/gkac638
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- Article
Myopia disease mouse models: a missense point mutation (S673G) and a protein-truncating mutation of the Zfp644 mimic human disease phenotype.
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- Cell & Bioscience, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1186/s13578-019-0280-4
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- Article
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.
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- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 766, doi. 10.1038/ejhg.2014.168
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- Article
Calculating and comparing codon usage values in rare disease genes highlights codon clustering with disease-and tissue- specific hierarchy.
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- PLoS ONE, 2022, v. 17, n. 3, p. 1, doi. 10.1371/journal.pone.0265469
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- Article
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.
- Published in:
- 2016
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- Publication type:
- journal article
Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa.
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- Genes, 2020, v. 11, n. 12, p. 1517, doi. 10.3390/genes11121517
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- Article
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome.
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- Cardiology, 2017, v. 137, n. 4, p. 256, doi. 10.1159/000471792
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- Article
The novel HLA‐C*08:80 allele identified by full‐length sequencing of the HLA region.
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- HLA: Immune Response Genetics, 2019, v. 93, n. 6, p. 500, doi. 10.1111/tan.13493
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- Article
VIPPID: a gene-specific single nucleotide variant pathogenicity prediction tool for primary immunodeficiency diseases.
- Published in:
- Briefings in Bioinformatics, 2022, v. 23, n. 5, p. 1, doi. 10.1093/bib/bbac176
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- Article
Integrating plasma cell‐free DNA with clinical laboratory results enhances the prediction of critically ill patients with COVID‐19 at hospital admission.
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- Clinical & Translational Medicine, 2022, v. 12, n. 7, p. 1, doi. 10.1002/ctm2.966
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- Article
A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.
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- Clinical & Translational Medicine, 2022, v. 12, n. 6, p. 1, doi. 10.1002/ctm2.843
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- Article
Clinical implications of experimental analyses of AID function on predictive computational tools: Challenge of missense variants.
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- Clinical Genetics, 2020, v. 97, n. 6, p. 844, doi. 10.1111/cge.13737
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- Article
T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects.
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- Journal of Clinical Immunology, 2022, v. 42, n. 2, p. 375, doi. 10.1007/s10875-021-01178-1
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- Publication type:
- Article
Compound Heterozygous Mutations of IL2-Inducible T cell Kinase in a Swedish Patient: the Importance of Early Genetic Diagnosis.
- Published in:
- 2019
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- Publication type:
- Letter
Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions.
- Published in:
- Journal of Clinical Immunology, 2016, v. 36, p. 68, doi. 10.1007/s10875-016-0260-y
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- Article
Spectrum of Phenotypes Associated with Mutations in LRBA.
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- Journal of Clinical Immunology, 2016, v. 36, n. 1, p. 33, doi. 10.1007/s10875-015-0224-7
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- Publication type:
- Article
A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism.
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- Human Genetics, 2017, v. 136, n. 7, p. 835, doi. 10.1007/s00439-017-1804-9
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- Article
Species-Level Analysis of the Human Gut Microbiome Shows Antibiotic Resistance Genes Associated With Colorectal Cancer.
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- Frontiers in Microbiology, 2021, v. 12, p. 1, doi. 10.3389/fmicb.2021.765291
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- Publication type:
- Article
Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases.
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- Frontiers in Physiology, 2021, v. 12, p. 1, doi. 10.3389/fphys.2021.716471
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- Publication type:
- Article
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-66
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- Publication type:
- Article
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.
- Published in:
- 2013
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- Publication type:
- journal article
POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.
- Published in:
- 2016
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- Publication type:
- journal article
The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay.
- Published in:
- Cell Discovery, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41421-023-00582-8
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- Publication type:
- Article
Identification of Potential Biomarkers for Pan-Cancer Diagnosis and Prognosis Through the Integration of Large-Scale Transcriptomic Data.
- Published in:
- Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.870660
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- Publication type:
- Article
Noncoding RNA transcription alters chromosomal topology to promote isotype-specific class switch recombination.
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- Science Immunology, 2020, v. 5, n. 44, p. 1, doi. 10.1126/sciimmunol.aay5864
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- Article
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
- Published in:
- 2016
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- Publication type:
- journal article
Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria.
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- Journal of Investigative Dermatology, 2013, v. 133, n. 9, p. 2221, doi. 10.1038/jid.2013.145
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- Publication type:
- Article
T‐cell receptor repertoire data provides new evidence for hygiene hypothesis of allergic diseases.
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- Allergy, 2020, v. 75, n. 3, p. 681, doi. 10.1111/all.14014
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- Publication type:
- Article
Mutation in the SYNJ1 Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism.
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- Human Mutation, 2013, v. 34, n. 9, p. 1208, doi. 10.1002/humu.22373
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- Article
More severe than CVID: Combined immunodeficiency due to a novel NFKB2 mutation.
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- Pediatric Allergy & Immunology, 2021, v. 32, n. 4, p. 793, doi. 10.1111/pai.13441
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- Article
Developing an Unbiased Multiplex PCR System to Enrich the TRB Repertoire Toward Accurate Detection in Leukemia.
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- Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.01631
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- Publication type:
- Article
Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca<sup>2+</sup> signalling.
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- Human Molecular Genetics, 2016, v. 25, n. 17, p. 3741, doi. 10.1093/hmg/ddw220
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- Article
Age‐dependent changes in the gut microbiota and serum metabolome correlate with renal function and human aging.
- Published in:
- Aging Cell, 2023, v. 22, n. 12, p. 1, doi. 10.1111/acel.14028
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- Article
Integrated genetic analyses revealed novel human longevity loci and reduced risks of multiple diseases in a cohort study of 15,651 Chinese individuals.
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- Aging Cell, 2021, v. 20, n. 3, p. 1, doi. 10.1111/acel.13323
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- Publication type:
- Article