Khurrum Liaqat

11PUBLICATIONS
13CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Infant and child healthAerospace engineering not elsewhere classifiedDevelopmental genetics (incl. sex determination)Medical biotechnology diagnostics (incl. biosensors)
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Publications (11)

|Apr 18, 2025
Uncovering a Diagnosis Through Reanalysis of UBA2 Variants in a Patient with Syndactyly, Polydactyly, and Aplasia Cutis Congenita: A Short Report and a Review of the Literature.

Khurram Liaqat, Kimberly Felipe, Kayla Treat

|May 22, 2024
Clinical and genetic investigation of 14 families with various forms of short stature syndromes.

Fati Ullah Khan, Hammal Khan, Kifayat Ullah

|Mar 23, 2024
Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey.

Rebecca Bruns, Khurram Liaqat, Abdul Nasir

|Feb 12, 2024
Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder.

Khurram Liaqat, Kayla Treat, Theodore E Wilson

|Dec 22, 2023
A case of MBTPS1-related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype-phenotype expansion and the emergence of a novel syndrome.

Khurram Liaqat, Kayla Treat, Lili Mantcheva

|Jun 13, 2023
Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment.

Khurram Liaqat, Thashi Bharadwaj, Khadim Shah

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Frequent Collaborators

5 joint publications

Suzanne M Leal

4 joint publications

Abdul Nasir

3 joint publications

Wasim Ahmad

2 joint publications

Thashi Bharadwaj