A case of <scp><i>MBTPS1</i></scp>‐related disorder due to compound heterozygous variants in <scp><i>MBTPS1</i></scp> gene: Genotype–phenotype expansion and the emergence of a novel syndromeKhurram Liaqat, Francesco Vetrini, Kayla Treat et al.|American Journal of Medical Genetics Part A|2023Cited by 4
Further evidence of involvement of <i>ITSN1</i> in autosomal dominant neurodevelopmental disorderKhurram Liaqat, Francesco Vetrini, Kayla Treat et al.|Clinical Genetics|2024Cited by 4
Undiagnosed rare disease clinic identifies a novel <i>UBE3A</i> variant in two sisters with Angelman syndrome: The end of a diagnostic odysseyR Bruns, Francesco Vetrini, Khurram Liaqat et al.|Congenital Anomalies|2024Cited by 2
Uncovering a Diagnosis Through Reanalysis of <i>UBA2</i> Variants in a Patient with Syndactyly, Polydactyly, and Aplasia Cutis Congenita: A Short Report and a Review of the LiteratureKhurram Liaqat, Erin Conboy, Francesco Vetrini et al.|Genetic Testing and Molecular Biomarkers|2025Cited by 1
Research‐Based Whole Genome Sequencing Identifies Biallelic Loss of Function Variants in <i>DOCK3</i> Gene Causing <i>DOCK3</i> ‐Related Disorder: The End of a Diagnostic Journey for This FamilyKhurram Liaqat, Francesco Vetrini, Kayla Treat et al.|Clinical Genetics|2025Cited by 1