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Structure and function of the healthy pre-adolescent pediatric gut microbiome.
- Published in:
- Microbiome, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40168-015-0101-x
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- Publication type:
- Article
16S gut community of the Cameron County Hispanic Cohort.
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- Microbiome, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40168-015-0072-y
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- Publication type:
- Article
SV-STAT accurately detects structural variation via alignment to reference-based assemblies.
- Published in:
- Source Code for Biology & Medicine, 2016, v. 11, p. 1, doi. 10.1186/s13029-016-0051-0
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- Publication type:
- Article
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 43, doi. 10.1186/1750-1172-9-43
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- Publication type:
- Article
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.
- Published in:
- 2014
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- Publication type:
- journal article
P1‐149: THE ALZHEIMER'S DISEASE SEQUENCING PROJECT (ADSP) DATA UPDATE 2018.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P333, doi. 10.1016/j.jalz.2018.06.152
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- Publication type:
- Article
Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1439
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- Publication type:
- Article
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. 4, p. 1633, doi. 10.1093/nar/gkw1237
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- Publication type:
- Article
Tissue-specific transcriptome sequencing analysis expands the non-human primate reference transcriptome resource (NHPRTR).
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- Nucleic Acids Research, 2015, v. 43, n. D1, p. D737, doi. 10.1093/nar/gku1110
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- Publication type:
- Article
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01123-w
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- Publication type:
- Article
Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01031-z
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- Publication type:
- Article
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 794, doi. 10.1002/ajmg.a.63080
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- Publication type:
- Article
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3593, doi. 10.1002/ajmg.a.61908
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- Publication type:
- Article
Wolff–Parkinson–White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1387, doi. 10.1002/ajmg.a.61571
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- Publication type:
- Article
A biallelic <italic>ANTXR1</italic> variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1015, doi. 10.1002/ajmg.a.38625
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- Publication type:
- Article
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2789, doi. 10.1002/ajmg.a.38383
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- Publication type:
- Article
Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2181, doi. 10.1002/ajmg.a.37727
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- Publication type:
- Article
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2795, doi. 10.1002/ajmg.a.37263
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- Publication type:
- Article
FBN1 contributing to familial congenital diaphragmatic hernia.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 831, doi. 10.1002/ajmg.a.36960
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- Publication type:
- Article
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2328, doi. 10.1002/ajmg.a.36678
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- Publication type:
- Article
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model.
- Published in:
- Nature Medicine, 2012, v. 18, n. 9, p. 1423, doi. 10.1038/nm.2860
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- Publication type:
- Article
MLH1-silenced and non-silenced subgroups of hypermutated colorectal carcinomas have distinct mutational landscapes.
- Published in:
- Journal of Pathology, 2013, v. 229, n. 1, p. 99, doi. 10.1002/path.4087
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- Publication type:
- Article
THE ALZHEIMER’S DISEASE SEQUENCING PROJECT (ADSP) DATA UPDATE 2017.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P968, doi. 10.1016/j.jalz.2017.06.1300
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- Publication type:
- Article
Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease.
- Published in:
- Nature Genetics, 2015, v. 47, n. 6, p. 640, doi. 10.1038/ng.3270
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- Publication type:
- Article
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.
- Published in:
- Nature Genetics, 2015, v. 47, n. 6, p. 654, doi. 10.1038/ng.3279
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- Publication type:
- Article
Convergent evolution of the genomes of marine mammals.
- Published in:
- Nature Genetics, 2015, v. 47, n. 3, p. 272, doi. 10.1038/ng.3198
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- Publication type:
- Article
Whole-genome sequence-based analysis of high-density lipoprotein cholesterol.
- Published in:
- Nature Genetics, 2013, v. 45, n. 8, p. 899, doi. 10.1038/ng.2671
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- Publication type:
- Article
Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing.
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- Nature Genetics, 2012, v. 44, n. 2, p. 165, doi. 10.1038/ng.1041
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- Publication type:
- Article
Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
- Published in:
- 2011
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- Publication type:
- Correction Notice
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
- Published in:
- Nature Genetics, 2011, v. 43, n. 3, p. 189, doi. 10.1038/ng.756
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- Publication type:
- Article
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
- Published in:
- Nature Genetics, 2009, v. 41, n. 6, p. 739, doi. 10.1038/ng.366
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- Publication type:
- Article
Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.
- Published in:
- 2015
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- Publication type:
- journal article
Direct selection of human genomic loci by microarray hybridization.
- Published in:
- Nature Methods, 2007, v. 4, n. 11, p. 903, doi. 10.1038/nmeth1111
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- Publication type:
- Article
Draft genome sequences and description of Lactobacillus rhamnosus strains L31, L34, and L35.
- Published in:
- Standards in Genomic Sciences, 2014, v. 9, n. 3, p. 744, doi. 10.4056/sigs.5048907
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- Publication type:
- Article
xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments.
- Published in:
- GigaScience, 2023, v. 12, n. 1, p. 1, doi. 10.1093/gigascience/giac125
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- Publication type:
- Article
Construction of a new chromosome-scale, long-read reference genome assembly for the Syrian hamster, Mesocricetus auratus.
- Published in:
- GigaScience, 2022, v. 11, p. 1, doi. 10.1093/gigascience/giac039
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- Publication type:
- Article
Fully resolved assembly of Cryptosporidium parvum.
- Published in:
- GigaScience, 2022, v. 11, p. 1, doi. 10.1093/gigascience/giac010
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- Publication type:
- Article
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01312-9
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- Publication type:
- Article
Population Genomic Analysis of 962 Whole Genome Sequences of Humans Reveals Natural Selection in Non-Coding Regions.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0121644
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- Publication type:
- Article
Whole Exome Sequencing Identifies Novel Genes for Fetal Hemoglobin Response to Hydroxyurea in Children with Sickle Cell Anemia.
- Published in:
- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0110740
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- Publication type:
- Article
Sequence Analysis of Six Blood Pressure Candidate Regions in 4,178 Individuals: The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study.
- Published in:
- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0109155
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- Publication type:
- Article
Associations of <i>NINJ2</i> Sequence Variants with Incident Ischemic Stroke in the Cohorts for Heart and Aging in Genomic Epidemiology (CHARGE) Consortium.
- Published in:
- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0099798
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- Publication type:
- Article
Mind the Gap: Upgrading Genomes with Pacific Biosciences RS Long-Read Sequencing Technology.
- Published in:
- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0047768
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- Publication type:
- Article
Complete Genome Sequence of Treponema paraluiscuniculi, Strain Cuniculi A: The Loss of Infectivity to Humans Is Associated with Genome Decay.
- Published in:
- PLoS ONE, 2011, v. 6, n. 5, p. 1, doi. 10.1371/journal.pone.0020415
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- Publication type:
- Article
Comparative Genomics of Gardnerella vaginalis Strains Reveals Substantial Differences in Metabolic and Virulence Potential.
- Published in:
- PLoS ONE, 2010, v. 5, n. 8, p. 1, doi. 10.1371/journal.pone.0012411
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- Publication type:
- Article
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
- Published in:
- Human Genetics, 2018, v. 137, n. 9, p. 689, doi. 10.1007/s00439-018-1907-y
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- Publication type:
- Article
Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.
- Published in:
- Human Genetics, 2015, v. 134, n. 6, p. 671, doi. 10.1007/s00439-015-1548-3
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- Publication type:
- Article
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
- Published in:
- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0093-8
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- Publication type:
- Article
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 342, doi. 10.1038/ejhg.2014.107
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- Publication type:
- Article
Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1145, doi. 10.1038/ejhg.2013.291
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- Publication type:
- Article