HONGZHENG DAI to Mutation
This is a "connection" page, showing publications HONGZHENG DAI has written about Mutation.
Connection Strength
0.488
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Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism. J Med Genet. 2024 Jul 19; 61(8):741-749.
Score: 0.082
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PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy. Clin Genet. 2021 08; 100(2):227-233.
Score: 0.066
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A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. Am J Med Genet A. 2021 08; 185(8):2315-2324.
Score: 0.066
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Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report. Am J Med Genet A. 2020 11; 182(11):2751-2754.
Score: 0.063
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Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med. 2020 06 01; 217(6).
Score: 0.062
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A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2 -Related Mitochondrial Disorder. Am J Med Genet A. 2025 Nov; 197(11):e64177.
Score: 0.022
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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: 0.019
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KCNA1 gain-of-function epileptic encephalopathy treated with 4-aminopyridine. Ann Clin Transl Neurol. 2023 04; 10(4):656-663.
Score: 0.019
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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: 0.018
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Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome. Cancer Genet. 2022 04; 262-263:53-56.
Score: 0.017
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Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480.
Score: 0.014
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FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance. Mol Genet Metab. 2018 11; 125(3):281-291.
Score: 0.014
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MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. Hum Mutat. 2018 04; 39(4):461-470.
Score: 0.013
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Molecular and clinical spectra of FBXL4 deficiency. Hum Mutat. 2017 12; 38(12):1649-1659.
Score: 0.013