Hallam S, Nelson H, Greger V, Perreault-Micale C, Davie J, Faulkner N, et al. Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing. J Mol Diagn. 2014;16:180–9.

Article  CAS  PubMed  Google Scholar 

Gregg AR, Aarabi M, Klugman S, Leach NT, Bashford MT, Goldwaser T, et al. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23:1793–806.

Article  PubMed  PubMed Central  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.

Article  PubMed  PubMed Central  Google Scholar 

Miller DT, Lee K, Abul-Husn NS, Amendola LM, Brothers K, Chung WK, et al. ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2022;24:1407–14.

Article  CAS  PubMed  Google Scholar 

Committee Opinion No. 691: Carrier Screening for Genetic Conditions. Obstet Gynecol. 2017;129:e41–e55.

Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006;8:267–88.

Article  PubMed  PubMed Central  Google Scholar 

Turaça LT, de Faria DO, Kyosen SO, Teixeira VD, Motta FL, Pessoa JG, et al. Novel GAA mutations in patients with Pompe disease. Gene. 2015;561:124–31.

Article  PubMed  Google Scholar 

Aung-Htut MT, Ham KA, Tchan MC, Fletcher S, Wilton SD. Novel mutations found in individuals with adult-onset Pompe disease. Genes (Basel). 2020;11:135.

Article  CAS  PubMed  Google Scholar 

Joo YS, Kim HW, Lee S, Nam KH, Yun HR, Jhee JH, et al. Dietary zinc intake and incident chronic kidney disease. Clin Nutr. 2021;40:1039–45.

Article  CAS  PubMed  Google Scholar 

Kuo CW, Hwu WL, Chien YH, Hsu C, Hung MZ, Lin IL, et al. Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes. Mol Genet Genom Med. 2020;8:e1455.

Article  CAS  Google Scholar 

Kamar A, Khalil A, Nemer G. The digenic causality in familial hypercholesterolemia: revising the genotype-phenotype correlations of the disease. Front Genet. 2020;11:572045.

Article  CAS  PubMed  Google Scholar 

Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, et al. GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet. 2005;77:945–57.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kiseleva AV, Klimushina MV, Sotnikova EA, Divashuk MG, Ershova AI, Skirko OP, et al. A data-driven approach to carrier screening for common recessive diseases. J Pers Med. 2020;10:140.

Article  PubMed  PubMed Central  Google Scholar 

Luo H, Yang Y, Wang X, Xu F, Huang C, Liu D, et al. Concurrent newborn hearing and genetic screening of common hearing loss variants with bloodspot-based targeted next generation sequencing in Jiangxi province. Front Pediatr. 2022;10:1020519.

Article  PubMed  PubMed Central  Google Scholar 

Van Heurck R, Carminho-Rodrigues MT, Ranza E, Stafuzza C, Quteineh L, Gehrig C, et al. Benefits of exome sequencing in children with suspected isolated hearing loss. Genes (Basel). 2021;12:1277.

Article  PubMed  Google Scholar 

Kuo CN, Liao YM, Kuo LN, Tsai HJ, Chang WC, Yen Y. Cancers in Taiwan: practical insight from epidemiology, treatments, biomarkers, and cost. J Formos Med Assoc. 2020;119:1731–41.

Article  CAS  PubMed  Google Scholar 

Lewandowska A, Rudzki G, Lewandowski T, Stryjkowska-Góra A, Rudzki S. Risk factors for the diagnosis of colorectal cancer. Cancer Control. 2022;29:10732748211056692.

Article  PubMed  PubMed Central  Google Scholar 

Yu J, Feng Q, Kim JH, Zhu Y. Combined effect of healthy lifestyle factors and risks of colorectal adenoma, colorectal cancer, and colorectal cancer mortality: systematic review and meta-analysis. Front Oncol. 2022;12:827019.

Article  PubMed  PubMed Central  Google Scholar