Recent publications

2023

Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.

Forwood, C., Ashton, K., Zhu, Y., Zhang, F., Dias, K.-R., Standen, K., Evans, C.-A., Carey, L., Cardamone, M., Shalhoub, C., Katf, H., Riveros, C., Hsieh, T.-C., Krawitz, P., Robinson, P. N., Dudding-Byth, T., Sadikovic, B., Pinner, J., Buckley, M. F., & Roscioli, T.

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 193C:e32056.

Recent publications

2023

Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.

Gene-based burden scores identify rare variant associations for 28 blood biomarkers.

Next-generation phenotyping in rare diseases with facial dysmorphism

Trans-ancestry polygenic models for the prediction of LDL blood levels: an analysis of the United Kingdom Biobank and Taiwan Biobank.

GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts

AI-based multi-PRS models outperform classical single-PRS models

Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome

Predicting the pathogenicity of missense variants using features derived from AlphaFold2

Boosting multivariate structured additive distributional regression models

Prevalence and determinants of subretinal drusenoid deposits in patients’ first-degree relatives

Assessing the performance of European-derived cardiometabolic polygenic risk scores in South-Asians and their interplay with family history

Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence

Corrigendum to “Dissecting the genetic heterogeneity of gastric cancer”

Editorial–Diagnostic genome sequencing in rare disorders

Episignature analysis of moderate effects and mosaics

Dissecting the genetic heterogeneity of gastric cancer

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

GANonymization: A GAN-based Face Anonymization Framework for Preserving Emotional Expressions

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence

Transferability of European-derived cardiometabolic polygenic risk scores in the South Asians and their interplay with family history 2023.03. 20.23287470

Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores

Gene-based burden scores identify rare variant associations for 28 blood biomarkers

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals

Region-based Saliency Explanations on the Recognition of Facial Genetic Syndromes

Trans-ancestry polygenic models for the prediction of LDL blood levels: An analysis of the UK Biobank and Taiwan Biobank

Human and computer attention in assessing genetic conditions

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Transferability of European-derived cardiometabolic polygenic risk scores in the South Asians and their interplay with family history

O17: GestaltMatcher supports classification of ultra-rare disorders and delineation of novel syndromes by facial phenotype descriptors

P196: GestaltMatcher Database: A FAIR database for medical imaging data of rare diseases

P238: Discovery of the phenotypic landscape and mechanistic understanding of NAA10-related and NAA15-related neurodevelopmental syndromes, using mouse models and iPSCs

Improving Deep Facial Phenotyping for Ultra-rare Disorder Verification Using Model Ensembles