Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Hedgehog Signaling Pathway Studies, Genomic variations and chromosomal abnormalities, and BRCA gene mutations in cancer.
Bone2Gene: Next-generation Phenotyping of Rare Bone Diseases
Artificial intelligence in clinical genetics.
GestaltGAN: synthetic photorealistic portraits of individuals with rare genetic disorders.
Advances in machine learning for ABCA4-related retinopathy: segmentation and phenotyping.
Artificial intelligence in clinical genetics: current practice and attitudes among the clinical genetics workforce
Application of deep learning and explainable AI-supported medical decision-making for facial phenotyping in genetic syndromes
Analysis of large-language model versus human performance for genetics questions.
Response to correspondence regarding "Analysis of large-language model versus human performance for genetics questions".
Comparison of clinical geneticist and computer visual attention in assessing genetic conditions.
The clinical geneticist workforce: Community forums to address challenges and opportunities
GestaltGAN: Synthetic photorealistic portraits of individuals with rare genetic disorders
GestaltGAN: Synthetic photorealistic portraits of individuals with rare genetic disorders
Age-related survey of clinical genetics literature and related resources.
Perspectives on the future of dysmorphology
Can artificial intelligence save medical genetics?
Should all babies have their genome sequenced at birth?
Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in <i>FMR1</i> and Associated Phenotypes.
Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans.
Evolving technologies in medical genetics and genomics.
Somatic Mutations in <i>UBA1</i> and Severe Adult-Onset Autoinflammatory Disease
A systematic review of antibody mediated immunity to coronaviruses: kinetics, correlates of protection, and association with severity
A systematic review of antibody mediated immunity to coronaviruses: kinetics, correlates of protection, and association with severity.
Strategic vision for improving human health at The Forefront of Genomics.
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer.
Management of Secondary Genomic Findings
The Role of Host Genetic Factors in Coronavirus Susceptibility: Review of Animal and Systematic Review of Human Literature.
Management of Secondary Genomic Findings.
Going forward in a new world.
Announcing a new manuscript category for the American Journal of Medical Genetics Part A: Dispatches from Biotech.
Genomic and molecular characterization of preterm birth.