JOHN BELMONT to Exome
This is a "connection" page, showing publications JOHN BELMONT has written about Exome.
Connection Strength
0.641
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Recommendations for whole genome sequencing in diagnostics for rare diseases. Eur J Hum Genet. 2022 09; 30(9):1017-1021.
Score: 0.137
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Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases. J Med Genet. 2019 12; 56(12):783-791.
Score: 0.111
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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: 0.096
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Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant. Am J Med Genet A. 2015 Nov; 167A(11):2742-7.
Score: 0.085
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SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing. Genome Biol. 2011 Sep 21; 12(9):R91.
Score: 0.066
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A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers. Cell. 2019 03 21; 177(1):32-37.
Score: 0.028
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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: 0.025
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.024
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An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. Cold Spring Harb Mol Case Stud. 2017 03; 3(2):a000984.
Score: 0.024
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Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet. 2016 Oct 06; 99(4):886-893.
Score: 0.023
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Recommendations for the integration of genomics into clinical practice. Genet Med. 2016 11; 18(11):1075-1084.
Score: 0.023