Research map: Clinical application value of preconception and prenatal carrier screening in Yinchuan

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Papers in this map

  1. 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 · Sue M. Richards · 2015 · 33500 citations · Cited by this paper
  2. Rethinking polyphenol oxidases in wheat: beyond the “low-PPO is always better” paradigm · 2026 · Related
  3. Expanded carrier screening for monogenic disorders: where are we now? · Davit Chokoshvili · 2017 · 100 citations · Cited by this paper
  4. From toxicogenomics to predictive toxicology and exposomics: defining the next decade of gene–environment research · 2026 · Related
  5. Clinical experience with non‐invasive prenatal screening for single‐gene disorders · Pooja Mohan · 2021 · 84 citations · Cited by this paper
  6. Machine learning prioritization identifies PANX1 as an inflammation-associated candidate regulator in lung adenocarcinoma · 2026 · Related
  7. Expanded carrier screening for reproductive risk assessment: An evidence‐based practice guideline from the National Society of Genetic Counselors · Katelynn G. Sagaser · 2023 · 69 citations · Cited by this paper
  8. Assessment of paralogue annotation for improving diagnostic accuracy in CALM1, CALM2, and CALM3 genes · 2026 · Related
  9. Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples · Sumin Zhao · 2018 · 66 citations · Cited by this paper
  10. Suspected parental gonadal/gonadosomatic mosaicism for a TINF2 mutation in two sisters with dyskeratosis congenita · 2026 · Related
  11. Phenylketonuria incidence in China between 2013 and 2017 based on data from the Chinese newborn screening information system: a descriptive study · Liangcheng Xiang · 2019 · 45 citations · Cited by this paper
  12. Case Report: First report of spinal stenosis in Imagawa-Matsumoto syndrome: a novel SUZ12 variant in an 11-year-old Chinese child · 2026 · Related
  13. Comparison of gene mutation spectrum of thalassemia in different regions of China and Southeast Asia · Zhuo Yang · 2019 · 34 citations · Cited by this paper
  14. A reproducible pretreatment mucosal-inflammatory-remodeling state is associated with induction-phase anti-tumor necrosis factor non-response in ulcerative colitis · 2026 · Related
  15. The Frequency of Common Deafness-Associated Variants Among 3,555,336 Newborns in China and 141,456 Individuals Across Seven Populations Worldwide · Jiao Zhang · 2022 · 25 citations · Cited by this paper
  16. Case Report: First case of paternal mosaicism in Snijders Blok–Fisher syndrome · 2026 · Related
  17. Reproductive male partner testing when the female is identified to be a genetic disease carrier · Laurie Simone · 2020 · 22 citations · Cited by this paper
  18. A novel multivariate framework for functional gene networks enrichment analysis · 2026 · Related
  19. Gene modification therapies for hereditary diseases in the fetus · Citra Nurfarah Zaini Mattar · 2023 · 22 citations · Cited by this paper
  20. Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese · Jeffrey Fong Ting Chau · 2022 · 21 citations · Cited by this paper
  21. A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders · Wenjuan Zhu · 2022 · 11 citations · Cited by this paper
  22. Analysis of GJB2 Gene Mutations in 1330 Deafness Cases of Major Ethnic Groups in Northwest China · Panpan Bian · 2022 · 8 citations · Cited by this paper
  23. Preconception or prenatal acceptance of SMN1 gene carrier screening and carrier rate of spinal muscular atrophy: a retrospective study in 18,818 reproductive age women in Wuhan area of China · Yanan Sun · 2023 · 6 citations · Cited by this paper
  24. Clinical application value of pre‐pregnancy carrier screening in Chinese Han childbearing population · Li Tan · 2024 · 6 citations · Cited by this paper
  25. Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City · Xinyou Yu · 2023 · 3 citations · Cited by this paper

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