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Publications by Ivan Limongelli
Assessment of Patient Clinical Descriptions and Pathogenic Variants From Gene Panel Sequences in the CAGI‐5 Intellectual Disability Challenge
Human Mutation
Genetics
Improving Molecular Diagnosis in Epilepsy by a Dedicated High-Throughput Sequencing Platform
European Journal of Human Genetics
Genetics
Related publications
A Fully‐automated Event‐based Variant Prioritizing Solution to the CAGI5 Intellectual Disability Gene Panel Challenge
Human Mutation
Genetics
Identification of Candidate Gene FAM183A and Novel Pathogenic Variants in Known Genes: High Genetic Heterogeneity for Autosomal Recessive Intellectual Disability
PLoS ONE
Multidisciplinary
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
American Journal of Human Genetics
Genetics
CAGI4 SickKids Clinical Genomes Challenge: A Pipeline for Identifying Pathogenic Variants
Human Mutation
Genetics
Profound Intellectual Disability Caused by Homozygous TRAPPC9 Pathogenic Variant in a Man From Malta
Molecular genetics & genomic medicine
Genetics
Molecular Biology
MED13L-related Intellectual Disability: Involvement of Missense Variants and Delineation of the Phenotype
Neurogenetics
Molecular Neuroscience
Genetics
Cellular
De Novo Truncating Variants in PHF21A Cause Intellectual Disability and Craniofacial Anomalies
European Journal of Human Genetics
Genetics
The Intellectual Disability Gene PQBP1 Rescues Alzheimer’s Disease Pathology
Molecular Psychiatry
Psychiatry
Molecular Neuroscience
Mental Health
Molecular Biology
Cellular
An Intellectual Disability Syndrome With Single-Nucleotide Variants in O-GlcNAc Transferase
European Journal of Human Genetics
Genetics
