HONGZHENG DAI to Exome
This is a "connection" page, showing publications HONGZHENG DAI has written about Exome.
Connection Strength
0.386
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A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay. Hum Mutat. 2022 12; 43(12):1816-1823.
Score: 0.145
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Comparing the Diagnostic Yield of Germline Exome Versus Panel Sequencing in the Diverse Population of the Texas KidsCanSeq Pediatric Cancer Study. JCO Precis Oncol. 2024 Sep; 8:e2400187.
Score: 0.041
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Prenatal diagnosis of polycystic kidney caused by biallelic hypomorphic variants in the PKD1 gene. Prenat Diagn. 2024 02; 44(2):247-250.
Score: 0.038
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Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory. Genet Med. 2023 06; 25(6):100830.
Score: 0.037
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A novel, de novo intronic variant in POGZ causes White-Sutton syndrome. Am J Med Genet A. 2022 07; 188(7):2198-2203.
Score: 0.035
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Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies. Genet Med. 2022 02; 24(2):364-373.
Score: 0.034
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Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480.
Score: 0.029
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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: 0.026