Cedrik Tekendo‐Ngongang

Genotypic and phenotypic analysis of 173 patients with extremely rare pathogenic mutations who applied for experimental antisense oligonucleotide treatment

The paper analyzes genotypic and phenotypic data from 173 patients with nano-rare mutations to explore genotype-phenotype relationships and the potential for antisense oligonucleotide therapy.

Human and computer attention in assessing genetic conditions

This study compares human and computer attention patterns when assessing images of genetic conditions using eye-tracking and deep learning saliency maps.

Neural networks for classification and image generation of aging in genetic syndromes

This paper develops a neural network classifier to diagnose genetic syndromes from facial images across different age groups, showing improved accuracy over clinical geneticists.

Proof-of-principle neural network models for classification, attribution, creation, style-mixing, and morphing of image data for genetic conditions

The paper trains neural networks to classify, generate, and analyze images of rare genetic conditions, showing improved accuracy over experts and demonstrating style-mixing and morphing techniques.