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Computational Genomics in the Era of Precision Medicine: Applications to Variant Analysis and Gene Therapy.
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- Journal of Personalized Medicine, 2022, v. 12, n. 2, p. N.PAG, doi. 10.3390/jpm12020175
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- Article
Genomic approaches to improve the clinical diagnosis and management of patients with congenital hydrocephalus.
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- Journal of Neurosurgery: Pediatrics, 2022, v. 29, n. 2, p. 168, doi. 10.3171/2021.8.PEDS21368
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- Article
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 1, p. 311, doi. 10.1093/brain/awad301
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- Article
Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3616, doi. 10.1093/brain/awad172
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- Article
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.
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- Human Genetics, 2023, v. 142, n. 1, p. 21, doi. 10.1007/s00439-022-02477-2
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- Article
Integrative modeling of transmitted and de novo variants identifies novel risk genes for congenital heart disease.
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- Quantitative Biology, 2021, v. 9, n. 2, p. 216, doi. 10.15302/J-QB-021-0248
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- Article
Mutation spectrum of congenital heart disease in a consanguineous Turkish population.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 6, p. 1, doi. 10.1002/mgg3.1944
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- Article
Alzheimer's disease-associated TREM2 variants exhibit either decreased or increased ligand-dependent activation.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, n. 4, p. 381, doi. 10.1016/j.jalz.2016.07.004
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- Article
A COMMON ALLELE IN SPI1 LOWERS RISK AND DELAYS AGE AT ONSET FOR ALZHEIMER'S DISEASE.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2016, v. 12, p. P253, doi. 10.1016/j.jalz.2016.06.453
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- Article
Exome-sequencing in late-onset families identified additional candidates genes for alzheimer's disease.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2014, v. 10, p. P135, doi. 10.1016/j.jalz.2014.04.075
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- Article
Novel coding variants in trem2 increase risk for alzheimer's disease.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2014, v. 10, p. P136, doi. 10.1016/j.jalz.2014.04.078
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- Article
Deep resequencing of GWAS loci associated with Alzheimer's disease
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- 2012
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- Abstract
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.
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- Nature Genetics, 2010, v. 42, n. 6, p. 525, doi. 10.1038/ng.580
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- Article
Genomics of human congenital hydrocephalus.
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- Child's Nervous System, 2021, v. 37, n. 11, p. 3325, doi. 10.1007/s00381-021-05230-8
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- Article
The FGF and FGFR Gene Family and Risk of Cleft Lip With or Without Cleft Palate.
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- Cleft Palate Craniofacial Journal, 2013, v. 50, n. 1, p. 96, doi. 10.1597/11-132
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- Article
Genome-Wide and Candidate Gene Association Study of Cigarette Smoking Behaviors.
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- PLoS ONE, 2009, v. 4, n. 2, p. 1, doi. 10.1371/journal.pone.0004653
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- Article
Quantifying concordant genetic effects of de novo mutations on multiple disorders.
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- eLife, 2022, p. 1, doi. 10.7554/eLife.75551
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- Article
Unique features in the intracellular transport of typhoid toxin revealed by a genome-wide screen.
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- PLoS Pathogens, 2019, v. 15, n. 4, p. 1, doi. 10.1371/journal.ppat.1007704
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- Article
Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.
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- JAMA Network Open, 2023, v. 6, n. 11, p. e2343384, doi. 10.1001/jamanetworkopen.2023.43384
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- Article
Variant recurrence confirms the existence of a FBXO31‐related spastic‐dystonic cerebral palsy syndrome.
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- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 4, p. 951, doi. 10.1002/acn3.51335
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- Article
Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort.
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- Alzheimer's Research & Therapy, 2012, v. 4, n. 4, p. 34, doi. 10.1186/alzrt137
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- Article
Protein kinase D1 variant associated with human epilepsy and peripheral nerve hypermyelination.
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- Clinical Genetics, 2021, v. 100, n. 2, p. 176, doi. 10.1111/cge.13973
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- Article
SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.892
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- Article
Exome Sequencing as a Potential Diagnostic Adjunct in Sporadic Congenital Hydrocephalus.
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- JAMA Pediatrics, 2021, v. 175, n. 3, p. 310, doi. 10.1001/jamapediatrics.2020.4878
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- Article
Coding variants in TREM2 increase risk for Alzheimer's disease.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5838, doi. 10.1093/hmg/ddu277
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- Article
A neural stem cell paradigm of pediatric hydrocephalus.
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- Cerebral Cortex, 2023, v. 33, n. 8, p. 4262, doi. 10.1093/cercor/bhac341
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- Article
Insights From Genetic Studies of Cerebral Palsy.
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- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.625428
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- Article
Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
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- Movement Disorders, 2022, v. 37, n. 1, p. 137, doi. 10.1002/mds.28804
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- Article
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.
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- Nature, 2014, v. 505, n. 7484, p. 550, doi. 10.1038/nature12825
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- Article
Resequencing analysis of five Mendelian genes and the top genes from genomewide association studies in Parkinson's Disease.
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- Molecular Neurodegeneration, 2016, v. 11, p. 1, doi. 10.1186/s13024-016-0097-0
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- Article
TREM2 is associated with increased risk for Alzheimer's disease in African Americans.
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- Molecular Neurodegeneration, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13024-015-0016-9
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- Article
The <i>PSEN1</i>, p.E318G Variant Increases the Risk of Alzheimer's Disease in <i>APOE</i>-ε4 Carriers.
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- PLoS Genetics, 2013, v. 9, n. 8, p. 1, doi. 10.1371/journal.pgen.1003685
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- Article
Molecular Genetics and Complex Inheritance of Congenital Heart Disease.
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- Genes, 2021, v. 12, n. 7, p. 1020, doi. 10.3390/genes12071020
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- Article
Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3.
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- Frontiers in Cellular Neuroscience, 2019, p. 1, doi. 10.3389/fncel.2019.00425
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- Article
Network assisted analysis of De novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease.
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- PLoS Genetics, 2022, v. 18, n. 6, p. 1, doi. 10.1371/journal.pgen.1010252
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- Article
Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate.
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- Genetic Epidemiology, 2011, v. 35, n. 6, p. 469, doi. 10.1002/gepi.20595
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- Article