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A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in <italic>LAMA5</italic>.
- Published in:
- Annals of the New York Academy of Sciences, 2018, v. 1413, n. 1, p. 119, doi. 10.1111/nyas.13585
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- Publication type:
- Article
LB21. The Seattle Flu Study: A Community-Based Study of Influenza.
- Published in:
- Open Forum Infectious Diseases, 2019, v. 6, p. S1002, doi. 10.1093/ofid/ofz415.2504
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- Publication type:
- Article
Whole-Exome Sequencing and hiPSC Cardiomyocyte Models Identify MYRIP , TRAPPC11 , and SLC27A6 of Potential Importance to Left Ventricular Hypertrophy in an African Ancestry Population.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.588452
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- Publication type:
- Article
Sentinel Surveillance System Implementation and Evaluation for SARS-CoV-2 Genomic Data, Washington, USA, 2020-2021.
- Published in:
- Emerging Infectious Diseases, 2023, v. 29, n. 2, p. 242, doi. 10.3201/eid2902.221482
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- Publication type:
- Article
Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-28973-7
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- Publication type:
- Article
Author Correction: Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33097-z
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- Publication type:
- Article
Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling.
- Published in:
- EMBO Molecular Medicine, 2020, v. 12, n. 11, p. 1, doi. 10.15252/emmm.201911739
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- Publication type:
- Article
Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3616, doi. 10.1093/brain/awad172
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- Publication type:
- Article
Remote surveillance and detection of SARS-CoV-2 transmission among household members in King County, Washington.
- Published in:
- BMC Infectious Diseases, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12879-024-09160-z
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- Publication type:
- Article
Cladistic Structure Within the Human Lipoprotein Lipase Gene and Its Implications for Phenotype...
- Published in:
- Genetics, 2000, v. 156, n. 3, p. 1259, doi. 10.1093/genetics/156.3.1259
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- Publication type:
- Article
Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1406
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- Publication type:
- Article
Integrating Host Genomics with Surveillance for Invasive Bacterial Diseases.
- Published in:
- Emerging Infectious Diseases, 2008, v. 14, n. 7, p. 1138, doi. 10.3201/eid1407.071287
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- Publication type:
- Article
NAR Breakthrough Article denovo-db: a compendium of human de novo variants.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. D1, p. D804, doi. 10.1093/nar/gkw865
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- Publication type:
- Article
Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-28973-7
- By:
- Publication type:
- Article
Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22470-z
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- Publication type:
- Article
Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 4, p. 381, doi. 10.1002/ajmg.b.32527
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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
Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares.
- Published in:
- Pediatric Rheumatology, 2020, v. 18, n. 1, p. N.PAG, doi. 10.1186/s12969-020-00474-1
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- Publication type:
- Article
Exome sequencing identifies genetic variants in anophthalmia and microphthalmia.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2376, doi. 10.1002/ajmg.a.62874
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- Publication type:
- Article
Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3028, doi. 10.1002/ajmg.a.62439
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- Publication type:
- Article
Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2136, doi. 10.1002/ajmg.a.62194
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- Publication type:
- Article
Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2887, doi. 10.1002/ajmg.a.40647
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- Publication type:
- Article
Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3098, doi. 10.1002/ajmg.a.38406
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- Publication type:
- Article
Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2906, doi. 10.1002/ajmg.a.38412
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- Publication type:
- Article
MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2415, doi. 10.1002/ajmg.a.38349
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- Publication type:
- Article
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2240, doi. 10.1002/ajmg.a.38291
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- Publication type:
- Article
SRD5A3-CDG: Expanding the Phenotype of a Congenital Disorder of Glycosylation with Emphasis on Adult Onset Features.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3165, doi. 10.1002/ajmg.a.37875
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- Publication type:
- Article
Somatic Mosaicism for a Lethal TRPV4 Mutation Results in Non-Lethal Metatropic Dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3298, doi. 10.1002/ajmg.a.37942
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- Publication type:
- Article
Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2407, doi. 10.1002/ajmg.a.36640
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- Publication type:
- Article
'Mandibulofacial dysostosis with microcephaly' caused by EFTUD2 mutations: Expanding the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 108, doi. 10.1002/ajmg.a.35696
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- Publication type:
- Article
The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions.
- Published in:
- 2012
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- Publication type:
- Editorial
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.
- Published in:
- Nature Genetics, 2012, v. 44, n. 8, p. 886, doi. 10.1038/ng.2344
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- Publication type:
- Article
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
- Published in:
- 2012
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- Publication type:
- Correction Notice
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
- Published in:
- Nature Genetics, 2011, v. 43, n. 6, p. 585, doi. 10.1038/ng.835
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- Publication type:
- Article
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
- Published in:
- Nature Genetics, 2010, v. 42, n. 9, p. 790, doi. 10.1038/ng.646
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- Publication type:
- Article
Exome sequencing identifies the cause of a mendelian disorder.
- Published in:
- Nature Genetics, 2010, v. 42, n. 1, p. 30, doi. 10.1038/ng.499
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- Publication type:
- Article
Systematic assessment of copy number variant detection via genome-wide SNP genotyping.
- Published in:
- Nature Genetics, 2008, v. 40, n. 10, p. 1199, doi. 10.1038/ng.236
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- Publication type:
- Article
Estimating coverage and power for genetic association studies using near-complete variation data.
- Published in:
- Nature Genetics, 2008, v. 40, n. 7, p. 841, doi. 10.1038/ng.180
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- Publication type:
- Article
Mutational and selective effects on copy-number variants in the human genome.
- Published in:
- Nature Genetics, 2007, v. 39, p. S22, doi. 10.1038/ng2054
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- Publication type:
- Article
Automating resequencing-based detection of insertion-deletion polymorphisms.
- Published in:
- Nature Genetics, 2006, v. 38, n. 12, p. 1457, doi. 10.1038/ng1925
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- Publication type:
- Article
Automating sequence-based detection and genotyping of SNPs from diploid samples.
- Published in:
- Nature Genetics, 2006, v. 38, n. 3, p. 375, doi. 10.1038/ng1746
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- Publication type:
- Article
Evidence for substantial fine-scale variation in recombination rates across the human genome.
- Published in:
- Nature Genetics, 2004, v. 36, n. 7, p. 700, doi. 10.1038/ng1376
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- Publication type:
- Article
Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans.
- Published in:
- Nature Genetics, 2003, v. 33, n. 4, p. 518, doi. 10.1038/ng1128
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- Publication type:
- Article
Variation is the spice of life.
- Published in:
- Nature Genetics, 2001, v. 27, n. 3, p. 234, doi. 10.1038/85776
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- Publication type:
- Article
Sequence variation in the human angiotensin converting enzyme.
- Published in:
- Nature Genetics, 1999, v. 22, n. 1, p. 59, doi. 10.1038/8760
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- Publication type:
- Article
Single-nucleotide evolutionary constraint scores highlight disease-causing mutations.
- Published in:
- Nature Methods, 2010, v. 7, n. 4, p. 250, doi. 10.1038/nmeth0410-250
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- Publication type:
- Article
Massively parallel exon capture and library-free resequencing across 16 genomes.
- Published in:
- 2009
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- Publication type:
- Letter
Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0618-5
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- Publication type:
- Article
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0275-5
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- Publication type:
- Article
Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 3, p. 1, doi. 10.1371/journal.pgen.1007293
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- Publication type:
- Article