Found: 23
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Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.
- Published in:
- Science Translational Medicine, 2019, v. 11, n. 489, p. N.PAG, doi. 10.1126/scitranslmed.aat6177
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- Publication type:
- Article
Whole exome sequencing in patients with white matter abnormalities.
- Published in:
- 2016
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- Publication type:
- journal article
Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1623
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- Publication type:
- Article
Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study.
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- JAMA Pediatrics, 2021, v. 175, n. 5, p. e205906, doi. 10.1001/jamapediatrics.2020.5906
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- Publication type:
- Article
Genetic Epidemiology and Nonsyndromic Structural Birth Defects.
- Published in:
- JAMA Pediatrics, 2014, v. 168, n. 4, p. 371, doi. 10.1001/jamapediatrics.2013.4858
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- Publication type:
- Article
Best practices for the interpretation and reporting of clinical whole genome sequencing.
- Published in:
- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00295-z
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- Publication type:
- Article
Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 3, p. 1, doi. 10.1101/mcs.a006091
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- Publication type:
- Article
Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency disorder diagnosis.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005496
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- Publication type:
- Article
Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing.
- Published in:
- JAMA Network Open, 2023, v. 6, n. 2, p. e2254069, doi. 10.1001/jamanetworkopen.2022.54069
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- Publication type:
- Article
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00965-0
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- Publication type:
- Article
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00965-0
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- Publication type:
- Article
Maternal Genome-Wide DNA Methylation Patterns and Congenital Heart Defects.
- Published in:
- PLoS ONE, 2011, v. 6, n. 1, p. 1, doi. 10.1371/journal.pone.0016506
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- Publication type:
- Article
Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.
- Published in:
- 2020
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- Publication type:
- journal article
Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Author Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
- Published in:
- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00154-9
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- Publication type:
- Article
Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.
- Published in:
- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00140-1
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- Publication type:
- Article
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.
- Published in:
- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0049-4
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- Publication type:
- Article
Report of two cases of Schaaf‐Yang syndrome: Same genotype and different phenotype.
- Published in:
- 2023
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- Publication type:
- Case Study
Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy.
- Published in:
- Clinical Case Reports, 2019, v. 7, n. 11, p. 2123, doi. 10.1002/ccr3.2438
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- Publication type:
- Article
Heterozygous WNT1 variant causing a variable bone phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2419, doi. 10.1002/ajmg.a.40347
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- Publication type:
- Article
Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 62, doi. 10.1002/ajmg.a.36201
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- Publication type:
- Article
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-018-07067-3
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- Publication type:
- Article