Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
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Matthew S. Lebo | Aleksandar Milosavljevic | Heidi L Rehm | Carolyn Sue Richards | Natasha T Strande | Laura M Amendola | Jonathan S Berg | Leslie G Biesecker | Sawona Biswas | Kevin M Bowling | Laura K Conlin | Matthew C Dulik | Arezou A Ghazani | Robert C Green | Gail P Jarvik | Matthew S Lebo | Heather M McLaughlin | Yassmine Akkari | Ragan Hart | Jeffrey Ou | Michael O Dorschner | Joseph S. Salama | R. Green | A. Milosavljevic | H. Rehm | G. Cooper | M. Dorschner | J. Berg | L. Biesecker | C. Richards | K. Bowling | G. Jarvik | Yaping Yang | S. Plon | J. Johnston | R. Ghosh | M. Leo | L. Conlin | M. Lebo | A. Ghazani | Y. Akkari | M. Amaral | Ronak Y Patel | L. Amendola | Jeffrey Ou | H. Mclaughlin | Ragan Hart | M. Dulik | Sawona Biswas | S. Punj | N. Strande | Carrie Horton | Christine M. Pak | Rajarshi Ghosh | Yaping Yang | Jennifer J Johnston | Michael C Leo | Michelle D Amaral | Greg M Cooper | Carrie Horton | Christine M Pak | Sumit Punj | Joseph Salama | Sharon E Plon | Sumit Punj
[1] G. Buck,et al. Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States. , 1997, Biochemical and molecular medicine.
[2] Heidi L Rehm,et al. ClinGen--the Clinical Genome Resource. , 2015, The New England journal of medicine.
[3] Douglas F Easton,et al. Genetic evidence and integration of various data sources for classifying uncertain variants into a single model , 2008, Human mutation.
[4] Y. Chien,et al. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later‐onset GLA mutation c.936+919G>A (IVS4+919G>A) , 2009, Human mutation.
[5] R. Lea,et al. The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry , 2013, Journal of Neurology.
[6] Rodney J Scott,et al. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database , 2013, Nature Genetics.
[7] Sergio Cocozza,et al. Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease , 1998, Cell.
[8] Gail P Jarvik,et al. The FDA and genomic tests--getting regulation right. , 2015, The New England journal of medicine.
[9] Alexander F. Wilson,et al. Research in Genomic Medicine the Clinseq Project: Piloting Large-scale Genome Sequencing for Material Supplemental , 2009 .
[10] A. Durr,et al. Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia , 2006, Neurology.
[11] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[12] C. Stanley,et al. Mutations in BTD causing biotinidase deficiency , 2001, Human mutation.
[13] K. Krippendorff. Reliability in Content Analysis: Some Common Misconceptions and Recommendations , 2004 .
[14] R. Desnick,et al. Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype. , 2002, American journal of human genetics.
[15] Shih-Jen Chen,et al. Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A) , 2010, Journal of Inherited Metabolic Disease.
[16] W. Grody,et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007 , 2008, Genetics in Medicine.
[17] I. Kohane,et al. Taxonomizing, sizing, and overcoming the incidentalome , 2012, Genetics in Medicine.
[18] T. Ross,et al. Use of panel tests in place of single gene tests in the cancer genetics clinic , 2015, Clinical genetics.
[19] Klaus Krippendorff,et al. Content Analysis: An Introduction to Its Methodology , 1980 .
[20] Glenn A. Maston,et al. A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders , 2015, Human mutation.
[21] Klaus Krippendorff,et al. Answering the Call for a Standard Reliability Measure for Coding Data , 2007 .
[22] Rebecca Zwick,et al. Another look at interrater agreement. , 1988, Psychological bulletin.
[23] L. H. van den Berg,et al. Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort. , 2012, Brain : a journal of neurology.
[24] Avni Santani,et al. Actionable exomic incidental findings in 6503 participants: challenges of variant classification , 2015, Genome research.
[25] Dale J. Prediger,et al. Coefficient Kappa: Some Uses, Misuses, and Alternatives , 1981 .