Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins

No abstract is available for this paper.

• Publication year

  2017

• Venue

  American Journal of Medical Genetics. Part A

• Publication date

  2017-06-20

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/ajmg.a.38315PMID 28631899PMCID PMC5561000
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• When One Diagnosis Is Not Enough.

  2017cited by this paper
• Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

  2017cited by this paper
• Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system

  2016cited by this paper
• Manipulation of primer affinity improves high-resolution melting accuracy for imprinted genes.

  2015cited by this paper
• If not Angelman, what is it? a review of Angelman‐like syndromes

  2014cited by this paper
• A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder

  2012cited by this paper
• SIFT web server: predicting effects of amino acid substitutions on proteins

  2012cited by this paper
• Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.

  2012cited by this paper
• Unique and atypical deletions in Prader–Willi syndrome reveal distinct phenotypes

  2011influential reference
• Functional Diversity of Human Basic Helix-Loop-Helix Transcription Factor TCF4 Isoforms Generated by Alternative 5′ Exon Usage and Splicing

  2011cited by this paper
• Pitt-Hopkins Syndrome

  2011cited by this paper
• A method and server for predicting damaging missense mutations

  2010cited by this paper
• Mutational, functional, and expression studies of the TCF4 gene in Pitt‐Hopkins syndrome

  2009cited by this paper
• Molecular and clinical characterization of two patients with Prader–Willi syndrome and atypical deletions of proximal chromosome 15q

  2008cited by this paper
• Impact of molecular mechanisms, including deletion size, on Prader–Willi syndrome phenotype: study of 75 patients

  2004cited by this paper
• Prader-Willi syndrome

  1989cited by this paper
• Atypical phenotype associated with deletion (15) (pter----q11::q13----qter).

  1987cited by this paper

• Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing

  2024cites this paper
• Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases

  2023cites this paper
• Case Report: A Disease Phenotype of Rett Syndrome and Neurofibromatosis Resulting from A Bilocus Variant Combination

  2022cites this paper
• Challenging Occam’s Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures

  2022cites this paper
• Delineation of dual molecular diagnosis in patients with skeletal deformity

  2022cites this paper
• Methods to Improve Molecular Diagnosis in Genomic Cold Cases in Pediatric Neurology

  2022cites this paper
• Multilocus inheritance and variable disease expressivity in rare disease

  2021cites this paper
• Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses

  2021cites this paper
• Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III–related leukodystrophy and Feingold syndrome

  2021influential citation
• Epidemiology and Phenotypic Characteristics of Dual Molecular Diagnosis Cases in Skeletal Abnormality

  2021cites this paper
• Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters

  2021cites this paper
• Heterozygous deletions in MKRN3 cause central precocious puberty without Prader-Willi Syndrome.

  2020cites this paper
• A decade of next‐generation sequencing in genodermatoses: the impact on gene discovery and clinical diagnostics *

  2020cites this paper
• From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

  2019cites this paper
• The first case of a non‐infertile female patient with Pitt–Hopkins syndrome

  2019cites this paper
• Genome sequencing and implications for rare disorders

  2019cites this paper
• Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

  2019cites this paper
• Predicting disease-causing variant combinations

  2019cites this paper
• A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses

  2019cites this paper
• Insights into genetics, human biology and disease gleaned from family based genomic studies

  2019cites this paper
• Introduction to Human Genetics

  2019cites this paper
• Phenotypic Expansion Illuminates Multilocus Pathogenic Variation

  2018cites this paper
• Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature

  2018cites this paper
• Two unrelated individuals carrying rare mosaic deletions in TCF4 gene

  2018cites this paper
• TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

  2018cites this paper
• 22q and two: 22q11.2 deletion syndrome and coexisting conditions

  2018cites this paper
• Subtle phenotypic effects of mosaic trisomy X in monozygotic twins with Prader-Willi syndrome: case report and review of literature

  year unknowninfluential citation