Research map: Phenotypic discordance in monozygotic twins with a CDH2 variant

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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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  14. Twinning and major birth defects, National Birth Defects Prevention Study, 1997–2007 · April L. Dawson · 2016 · 66 citations · Cited by this paper
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  16. Cell-free DNA screening for trisomies 21, 18, and 13 in pregnancies at low and high risk for aneuploidy with genetic confirmation · Pe'er Dar · 2022 · 63 citations · Cited by this paper
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  18. Congenital Heart Defects in Monochorionic Twins: A Systematic Review and Meta-Analysis · Manon Gijtenbeek · 2019 · 53 citations · Cited by this paper
  19. SPIN4-related X-linked overgrowth in a family · 2026 · Related
  20. Validation of a Single-Nucleotide Polymorphism-Based Non-Invasive Prenatal Test in Twin Gestations: Determination of Zygosity, Individual Fetal Sex, and Fetal Aneuploidy · Errol R. Norwitz · 2019 · 53 citations · Cited by this paper
  21. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects · Andrea Accogli · 2019 · 53 citations · Cited by this paper
  22. Whole exome sequencing with genomic triangulation implicatesCDH2-encoded N-cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy · Kari L. Turkowski · 2017 · 51 citations · Cited by this paper
  23. Flying under the radar: CDH2 (N-cadherin), an important hub molecule in neurodevelopmental and neurodegenerative diseases · Zsófia I. László · 2022 · 47 citations · Cited by this paper
  24. Novel variants in CDH2 are associated with a new syndrome including Peters anomaly · Linda M. Reis · 2019 · 22 citations · Cited by this paper
  25. Clinician‐reported chorionicity and zygosity assignment using single‐nucleotide polymorphism‐based cell‐free DNA: Lessons learned from 55,344 twin pregnancies · Anna Wojas · 2022 · 8 citations · Cited by this paper
  26. A Novel nonsense variant in the CDH2 gene associated with ACOGS : A case report · Momen Kanjee · 2022 · 5 citations · Cited by this paper
  27. Case Report: Identification of novel CDH2 mutation (p. P183A het)-induced arrhythmogenic cardiomyopathy in China · Kun Li · 2023 · 3 citations · Cited by this paper

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