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An eMERGE Clinical Center at Partners Personalized Medicine.
- Published in:
- Journal of Personalized Medicine, 2016, v. 6, n. 1, p. 5, doi. 10.3390/jpm6010005
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- Publication type:
- Article
Expanding the phenotype of GMPPB mutations.
- Published in:
- Brain: A Journal of Neurology, 2015, v. 138, n. 4, p. 836, doi. 10.1093/brain/awv013
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- Publication type:
- Article
ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling.
- Published in:
- 2013
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- Publication type:
- journal article
ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling.
- Published in:
- Journal of Clinical Investigation, 2013, v. 123, n. 10, p. 4255, doi. 10.1172/JCI67691
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- Publication type:
- Article
Population Differentiation as an Indicator of Recent Positive Selection in Humans: An Empirical Evaluation.
- Published in:
- Genetics, 2009, v. 183, n. 3, p. 1065, doi. 10.1534/genetics.109.107722
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- Publication type:
- Article
The ExAC browser: displaying reference data information from over 60 000 exomes.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. D1, p. D840, doi. 10.1093/nar/gkw971
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- Publication type:
- Article
A framework for the interpretation of de novo mutation in human disease.
- Published in:
- Nature Genetics, 2014, v. 46, n. 9, p. 944, doi. 10.1038/ng.3050
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- Publication type:
- Article
Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans.
- Published in:
- Nature Genetics, 2007, v. 39, n. 10, p. 1261, doi. 10.1038/ng2122
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- Publication type:
- Article
Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency.
- Published in:
- 2013
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- Publication type:
- journal article
A vast resource of allelic expression data spanning human tissues.
- Published in:
- Genome Biology, 2020, v. 21, p. 1, doi. 10.1186/s13059-020-02122-z
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- Publication type:
- Article
UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) Binds to Alpha-Actinin 1: Novel Pathways in Skeletal Muscle?
- Published in:
- PLoS ONE, 2008, v. 3, n. 6, p. 1, doi. 10.1371/journal.pone.0002477
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- Publication type:
- Article
The moral and practical urgency of increasing diversity in genomics.
- Published in:
- European Heart Journal, 2023, v. 44, n. 48, p. 5157, doi. 10.1093/eurheartj/ehad365
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- Publication type:
- Article
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
- Published in:
- Orphanet Journal of Rare Diseases, 2017, v. 12, p. 1
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- Publication type:
- Article
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
- Published in:
- 2017
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- Publication type:
- journal article
Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.
- Published in:
- 2016
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- Publication type:
- journal article
From patients to partners: participant-centric initiatives in biomedical research.
- Published in:
- Nature Reviews Genetics, 2012, v. 13, n. 5, p. 371, doi. 10.1038/nrg3218
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- Publication type:
- Article
Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases.
- Published in:
- NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0006-7
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- Publication type:
- Article
Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 88, doi. 10.1038/sj.ejhg.5201724
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- Publication type:
- Article
Origins and functional impact of copy number variation in the human genome.
- Published in:
- Nature, 2010, v. 464, n. 7289, p. 704, doi. 10.1038/nature08516
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- Publication type:
- Article
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy.
- Published in:
- JAMA Neurology, 2015, v. 72, n. 12, p. 1424, doi. 10.1001/jamaneurol.2015.2274
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- Publication type:
- Article
A gene for speed? The evolution and function of α-acting-3.
- Published in:
- BioEssays, 2004, v. 26, n. 7, p. 786, doi. 10.1002/bies.20061
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- Publication type:
- Article
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
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- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 5, p. 1250, doi. 10.1002/acn3.52041
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- Publication type:
- Article
Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects.
- Published in:
- Nature Communications, 2016, v. 7, n. 10, p. 13293, doi. 10.1038/ncomms13293
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- Publication type:
- Article
Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes.
- Published in:
- Genome Biology, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s13059-024-03248-0
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- Publication type:
- Article
The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 5, p. 764, doi. 10.1111/cge.13722
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- Publication type:
- Article
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.
- Published in:
- 2016
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- Publication type:
- journal article
Phylogenetic Analysis of Gene Structure and Alternative Splicing in α-Actinins.
- Published in:
- Molecular Biology & Evolution, 2010, v. 27, n. 4, p. 773, doi. 10.1093/molbev/msp268
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- Publication type:
- Article
Analysis of the ACTN3 heterozygous genotype suggests that a-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 5, p. 866, doi. 10.1093/hmg/ddv613
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- Publication type:
- Article
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 21, p. 6146, doi. 10.1093/hmg/ddv331
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- Publication type:
- Article
Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 15, p. 2914, doi. 10.1093/hmg/ddr196
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- Publication type:
- Article
Negligible impact of rare autoimmune-locus coding-region variants on missing heritability.
- Published in:
- Nature, 2013, v. 498, n. 7453, p. 232, doi. 10.1038/nature12170
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- Publication type:
- Article
A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04332-3
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- Publication type:
- Article
Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes.
- Published in:
- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-00443-5
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- Publication type:
- Article
STRetch: detecting and discovering pathogenic short tandem repeat expansions.
- Published in:
- Genome Biology, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s13059-018-1505-2
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- Publication type:
- Article
Human disease genomics: from variants to biology.
- Published in:
- Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-017-1160-z
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- Publication type:
- Article
Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 5, p. 1, doi. 10.1371/journal.pgen.1004304
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- Publication type:
- Article
Variant interpretation using population databases: Lessons from gnomAD.
- Published in:
- Human Mutation, 2022, v. 43, n. 8, p. 1012, doi. 10.1002/humu.24309
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- Publication type:
- Article
matchbox: An open‐source tool for patient matching via the Matchmaker Exchange.
- Published in:
- Human Mutation, 2018, v. 39, n. 12, p. 1827, doi. 10.1002/humu.23655
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- Publication type:
- Article
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive <italic>TNNT3</italic> splice variant.
- Published in:
- Human Mutation, 2018, v. 39, n. 3, p. 383, doi. 10.1002/humu.23385
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- Publication type:
- Article
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
- Published in:
- Human Mutation, 2017, v. 38, n. 5, p. 517, doi. 10.1002/humu.23203
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- Publication type:
- Article
The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity.
- Published in:
- Human Mutation, 2015, v. 36, n. 5, p. 513, doi. 10.1002/humu.22768
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- Publication type:
- Article
Cohort Profile: East London Genes & Health (ELGH), a community-based population genomics and health study in British Bangladeshi and British Pakistani people.
- Published in:
- 2020
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- Publication type:
- journal article
Loss-of-function variants in the genomes of healthy humans.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. R2, p. R125, doi. 10.1093/hmg/ddq365
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- Publication type:
- Article
α-Actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 7, p. 1335, doi. 10.1093/hmg/ddq010
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- Publication type:
- Article
An Actn3 knockout mouse provides mechanistic insights into the association between α-actinin-3 deficiency and human athletic performance.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 8, p. 1076, doi. 10.1093/hmg/ddm380
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- Publication type:
- Article