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
Characterization of a novel deep-intronic variant in<i>DYNC2H1</i>identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type IIIMuqsit Buchh, Francesco Vetrini, Erin Conboy et al.|Molecular Case Studies|2022Cited by 3
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
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
P535: The undiagnosed rare disease clinic program of Indiana University: Lessons learned from the first 100 patients enrolled (Phase-I pilot)Khurram Liaqat, Stephanie M. Ware, Francesco Vetrini et al.|Genetics in Medicine Open|2024Cited by 0