JOHN BELMONT to Genetic Diseases, Inborn
This is a "connection" page, showing publications JOHN BELMONT has written about Genetic Diseases, Inborn.
Connection Strength
1.581
-
Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases. J Med Genet. 2019 12; 56(12):783-791.
Score: 0.492
-
Clinical bioinformatics: emergence of a new laboratory discipline. Expert Rev Mol Diagn. 2016 11; 16(11):1139-1141.
Score: 0.413
-
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial. JAMA Pediatr. 2021 12 01; 175(12):1218-1226.
Score: 0.147
-
Estimating the burden and economic impact of pediatric genetic disease. Genet Med. 2019 08; 21(8):1781-1789.
Score: 0.120
-
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438.
Score: 0.112
-
Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.106
-
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017 02 28; 45(4):1633-1648.
Score: 0.106
-
The impact of clinical genome sequencing in a global population with suspected rare genetic disease. Am J Hum Genet. 2024 07 11; 111(7):1271-1281.
Score: 0.044
-
Genetic control of X inactivation and processes leading to X-inactivation skewing. Am J Hum Genet. 1996 Jun; 58(6):1101-8.
Score: 0.025
-
Gene therapy: a new approach for the treatment of genetic disorders. Clin Pharmacol Ther. 1990 Jan; 47(1):1-11.
Score: 0.016