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A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01314-x
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- Article
A comparison of high-throughput SARS-CoV-2 sequencing methods from nasopharyngeal samples.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-16549-w
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- Article
Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30443-z
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- Article
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
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- EMBO Molecular Medicine, 2020, v. 12, n. 7, p. 1, doi. 10.15252/emmm.201911861
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- Article
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
- Published in:
- 2021
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- Publication type:
- journal article
TyeA, a protein involved in control of Yop release and in translocation of Yersinia Yop effectors.
- Published in:
- EMBO Journal, 1998, v. 17, n. 7, p. 1907, doi. 10.1093/emboj/17.7.1907
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- Article
Rare missense variant (R251G) on APOE counterbalances the Alzheimer's disease risk associated with APOE‐ε4.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2022, v. 18, n. 4, p. 1, doi. 10.1002/alz.060114
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- Article
Exome sequencing identifies rare damaging variants in the ATB8B4 and ABCA1 genes as novel risk factors for Alzheimer's disease.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, n. 3, p. 1, doi. 10.1002/alz.055982
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- Article
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 10, p. 8729, doi. 10.3390/ijms24108729
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- Article
Co-Transplantation of Barcoded Lymphoid-Primed Multipotent (LMPP) and Common Lymphocyte (CLP) Progenitors Reveals a Major Contribution of LMPP to the Lymphoid Lineage.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 5, p. 4368, doi. 10.3390/ijms24054368
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- Article
Temporal Gene Expression Profiles Reflect the Dynamics of Lymphoid Differentiation.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1115, doi. 10.3390/ijms23031115
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- Publication type:
- Article
Effective requesting method to detect fusion transcripts in chronic myelomonocytic leukemia RNA-seq.
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- NAR Genomics & Bioinformatics, 2024, v. 6, n. 3, p. 1, doi. 10.1093/nargab/lqae117
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- Publication type:
- Article
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.
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- Human Genetics, 2023, v. 142, n. 6, p. 773, doi. 10.1007/s00439-023-02553-1
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- Article
Genetic and Haplotypic Structure in 14 European and Mrican Cattle Breeds.
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- Genetics, 2007, v. 177, n. 2, p. 1059, doi. 10.1534/genetics.107.075804
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- Publication type:
- Article
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
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- Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-0760-7
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- Article
iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-17337-2
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- Publication type:
- Article
De Novo Variants Found in Three Distinct Schizophrenia Populations Hit a Common Core Gene Network Related to Microtubule and Actin Cytoskeleton Gene Ontology Classes.
- Published in:
- Life (2075-1729), 2024, v. 14, n. 2, p. 244, doi. 10.3390/life14020244
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- Article
Genetics and Cognitive Vulnerability to Sleep Deprivation in Healthy Subjects: Interaction of ADORA2A, TNF-α and COMT Polymorphisms.
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- Life (2075-1729), 2021, v. 11, n. 10, p. 1110, doi. 10.3390/life11101110
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- Publication type:
- Article
Publisher Correction: Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01091-1
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- Publication type:
- Article
Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01070-6
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- Publication type:
- Article
Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2257, doi. 10.1002/ajmg.a.61317
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- Publication type:
- Article
A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.
- Published in:
- Nature Genetics, 2007, v. 39, n. 10, p. 1197, doi. 10.1038/ng2108
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- Article
Author Correction: Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01353-0
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- Publication type:
- Article
A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects.
- Published in:
- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0127903
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- Article
Common and Rare Variant Analysis in Early-Onset Bipolar Disorder Vulnerability.
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- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0104326
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- Article
Sources of Pre-Analytical Variations in Yield of DNA Extracted from Blood Samples: Analysis of 50,000 DNA Samples in EPIC.
- Published in:
- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0039821
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- Publication type:
- Article
A new genetic locus for antipsychotic-induced weight gain: A genome-wide study of first-episode psychosis patients using amisulpride (from the OPTiMiSE cohort).
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- 2020
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- Publication type:
- journal article
Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.
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- 2018
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- Publication type:
- journal article
Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.
- Published in:
- 2017
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- Publication type:
- journal article
Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered by Bacillus Calmette-Guerin and 6-kDa Early Secretory Antigen Target, Respectively, in Various Populations.
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- 2016
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- Publication type:
- journal article
Tuberculin skin test negativity is under tight genetic control of chromosomal region 11p14-15 in settings with different tuberculosis endemicities.
- Published in:
- 2015
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- Publication type:
- journal article
Association Study of Genes Controlling IL-12-dependent IFN-γ Immunity: STAT4 Alleles Increase Risk of Pulmonary Tuberculosis in Morocco.
- Published in:
- Journal of Infectious Diseases, 2014, v. 210, n. 4, p. 611, doi. 10.1093/infdis/jiu140
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- Publication type:
- Article
Genome-Wide Linkage Screen of Bone Mineral Density (BMD) in European Pedigrees Ascertained through a Male Relative with Low BMD Values: Evidence for Quantitative Trait Loci on 17q21–23, 11q12–13, 13q12–14, and 22q11.
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- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 10, p. 3755, doi. 10.1210/jc.2008-0678
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- Article
Experimental evolution links post-transcriptional regulation to Leishmania fitness gain.
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- PLoS Pathogens, 2022, v. 18, n. 3, p. 1, doi. 10.1371/journal.ppat.1010375
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- Article
Adoption of sustainable irrigation management practices by stone and pome fruit growers in the Goulburn/Murray Valleys, Australia.
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- Irrigation Science, 2005, v. 24, n. 2, p. 137, doi. 10.1007/s00271-005-0017-5
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- Article
First genome-wide association study of non-severe malaria in two birth cohorts in Benin.
- Published in:
- Human Genetics, 2019, v. 138, n. 11/12, p. 1341, doi. 10.1007/s00439-019-02079-5
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- Article
A novel locus for autosomal recessive spastic ataxia on chromosome 17p.
- Published in:
- Human Genetics, 2007, v. 121, n. 3/4, p. 413, doi. 10.1007/s00439-007-0328-0
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- Publication type:
- Article
Both rare and common genetic variants contribute to autism in the Faroe Islands.
- Published in:
- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0075-2
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- Publication type:
- Article
Both rare and common genetic variants contribute to autism in the Faroe Islands.
- Published in:
- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0075-2
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- Publication type:
- Article
A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus.
- Published in:
- NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0008-5
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- Publication type:
- Article
African Gene Flow Reduces Beta-Ionone Anosmia/Hyposmia Prevalence in Admixed Malagasy Populations.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 11, p. 1405, doi. 10.3390/brainsci11111405
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- Publication type:
- Article
Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1.
- Published in:
- British Journal of Dermatology, 2024, v. 190, n. 2, p. 226, doi. 10.1093/bjd/ljad390
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- Publication type:
- Article
A Case-Only Genome-Wide Interaction Study of Smoking and Bladder Cancer Risk: Results from the COBLAnCE Cohort.
- Published in:
- Cancers, 2023, v. 15, n. 17, p. 4218, doi. 10.3390/cancers15174218
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- Publication type:
- Article
The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma.
- Published in:
- Cancers, 2021, v. 13, n. 9, p. 2243, doi. 10.3390/cancers13092243
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- Article
A major locus on chromosome 3p22 conferring predisposition to human herpesvirus 8 infection.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 690, doi. 10.1038/ejhg.2011.260
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- Article
Bivariate association analysis in selected samples: application to a GWAS of two bone mineral density phenotypes in males with high or low BMD.
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- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 710, doi. 10.1038/ejhg.2011.22
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- Publication type:
- Article
Evidence for gene × smoking exposure interactions in a genome-wide linkage screen of asthma and bronchial hyper-responsiveness in EGEA families.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 810, doi. 10.1038/sj.ejhg.5201830
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- Publication type:
- Article
Measuring the Efficiency of Purging by non-random Mating in Human Populations.
- Published in:
- Molecular Biology & Evolution, 2024, v. 41, n. 6, p. 1, doi. 10.1093/molbev/msae094
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- Article
Papua New Guinean Genomes Reveal the Complex Settlement of North Sahul.
- Published in:
- Molecular Biology & Evolution, 2021, v. 38, n. 11, p. 5107, doi. 10.1093/molbev/msab238
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- Publication type:
- Article