Research map: Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses

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  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
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  18. Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies · 2026 · Related
  19. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) · Kandamurugu Manickam · 2021 · 663 citations · Cited by this paper
  20. Chromosome Microarray Analysis and Exome Sequencing: Implementation in Prenatal Diagnosis of Fetuses with Digestive System Malformations · You Wang · 2023 · 9 citations · Cites this paper
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  23. A Systematic Review of Methods and Practice for Integrating Maternal, Fetal, and Child Health Outcomes, and Family Spillover Effects into Cost-Utility Analyses · Ramesh Lamsal · 2024 · 9 citations · Cites this paper
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  25. Promises, pitfalls and practicalities of prenatal whole exome sequencing · Sunayna K. Best · 2017 · 378 citations · Cited by this paper
  26. Advancing fetal diagnosis and prognostication using comprehensive prenatal phenotyping and genetic testing · Olivier Fortin · 2024 · 9 citations · Cites this paper
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  28. Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives—A Systematic Review · Daniele Guadagnolo · 2021 · 33 citations · Cited by this paper
  29. Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies · Andrea Hadjipanteli · 2024 · 8 citations · Cites this paper
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  33. Access to prenatal exome sequencing for fetal malformations: A qualitative landscape analysis in the US · Nuriye Sahin‐Hodoglugil · 2023 · 6 citations · Cites this paper
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  35. Genetic testing for inherited cardiovascular diseases. A position statement of the Polish Cardiac Society endorsed by Polish Society of Human Genetics and Cardiovascular Patient Communities · Elżbieta Katarzyna Biernacka · 2024 · 6 citations · Cites this paper
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  37. Association of prenatal thoracic ultrasound abnormalities with copy number variants at a single Chinese tertiary center · Qiong Huang · 2023 · 5 citations · Cites this paper
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  39. Fetal hyperechoic kidney cohort study and a meta-analysis · Wei Yang · 2023 · 5 citations · Cites this paper

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