Article

Next-generation phenotyping contributing to the identification of a non-coding deletion in KANSL1 causing Koolen-de Vries syndrome

2022-04-19

Abstract excerpt

Next-generation phenotyping (NGP) is the application of advanced methods of computer vision on medical imaging data such as portrait photos of individuals with rare disorders. NGP on portraits results in gestalt scores that can be used for the selection of appropriate genetic tests, and for the interpretation of the molecular data. Here, we report on an exceptional case of a young girl that was presented at the ag...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 506c4f8a-bb8e-56b0-b934-33d8e38febd0
DOI: 10.22541/au.165034983.37804195/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Next-generation phenotyping contributing to the identification of a non-coding deletion in KANSL1 causing Koolen-de Vries syndromeDOI 10.22541/au.165034983.37804195/v1Read

Next generation phenotyping in Emanuel and Pallister-Killian syndrome using computer-aided facial dysmorphology analysis of 2D photos.Semantic proximity Read

Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1.Semantic proximity Read

Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome.Semantic proximity Read

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.Semantic proximity Read

Shared facial phenotype of patients with mucolipidosis type IV: A clinical observation reaffirmed by next generation phenotyping.Semantic proximity Read

Clinical and genetic characteristics of a case of Koolen-De Vries syndrome caused by KANSL1 gene mutation and literature review: A case report.Semantic proximity Read

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.Semantic proximity Read

Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome.Semantic proximity Read

Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.Semantic proximity Read

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseasesSemantic proximity Read

10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence.Semantic proximity Read

Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odysseySemantic proximity Read