Research map: Case Report: First case of paternal mosaicism in Snijders Blok–Fisher syndrome

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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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  17. De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder · Lot Snijders Blok · 2019 · 51 citations · Cited by this paper
  18. Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation · Marie Bernkopf · 2023 · 47 citations · Cited by this paper
  19. Human embryonic genetic mosaicism and its effects on development and disease · Sarah M. Waldvogel · 2024 · 30 citations · Cited by this paper
  20. Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG) · Elizabeth Chao · 2021 · 24 citations · Cited by this paper
  21. The Value of Parental Testing by Next-Generation Sequencing Includes the Detection of Germline Mosaicism · Casey Brewer · 2020 · 18 citations · Cited by this paper
  22. Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing · François Lecoquierre · 2024 · 9 citations · Cited by this paper
  23. Coexistence of severe developmental delay, epilepsy, and hemangioma in Snijders Blok‐Fisher syndrome suggests the presence of a POU3F3 ‐related SNIBFIS endophenotype: A case report · Deniz Torun · 2021 · 8 citations · Cited by this paper
  24. POU3F3 ‐related disorder: Defining the phenotype and expanding the molecular spectrum · Alessandra Rossi · 2023 · 7 citations · Cited by this paper
  25. Parental Somatic Mosaicism Detected During Prenatal Diagnosis · Natalie Jane Chandler · 2024 · 6 citations · Cited by this paper
  26. A de novo heterozygous POU3F3 genotype for the p.(Q214*) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literature · Hongyun Zhang · 2023 · 5 citations · Cited by this paper
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