SARAH ELSEA to Exome
This is a "connection" page, showing publications SARAH ELSEA has written about Exome.
Connection Strength
1.552
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Clinical Untargeted Metabolomics as a Functional Screen to Improve Variant Classification. Curr Protoc. 2023 Apr; 3(4):e720.
Score: 0.575
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Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis. Genet Med. 2020 09; 22(9):1560-1566.
Score: 0.472
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Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. Hum Mutat. 2017 12; 38(12):1774-1785.
Score: 0.392
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Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. Am J Med Genet A. 2017 Feb; 173(2):460-470.
Score: 0.092
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Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. J Clin Endocrinol Metab. 2015 May; 100(5):1723-30.
Score: 0.021