Dr. Shumaila Zulfiqar | Human Genetics | Young Researcher Award
Kinnaird College for Women University | Pakistan
Dr. Shumaila Zulfiqar is a researcher in biotechnology and human genetics, specializing in the molecular basis of rare neurogenetic, ocular, and autoinflammatory disorders. Her work integrates whole exome sequencing, bioinformatics, and functional genomics to identify novel disease-causing variants and expand genotype–phenotype correlations in underrepresented populations. She has contributed significantly to genomic medicine through variant discovery, clinical interpretation, and data submission to global databases. Her research also extends to immunogenomics and precision diagnostics, aiming to bridge genetic findings with clinical applications. With a growing publication record, including 11 documents, 76 citations across 72 documents, and an h-index of 4, her work reflects strong scientific impact and international collaboration.
250
200
150
100
50
0
76
11
4
View Scopus Profile View Orcid Profile View Google Scholar Profile
Featured Publications
A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers
– European Journal of Human Genetics, 2017 | Citations: 34
Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features
– BMC Medical Genetics, 2017 | Citations: 32
Investigation of prevalence and awareness of polycystic ovary syndrome among Pakistani females
– Proceedings of the Pakistan Academy of Sciences, 2022 | Citations: 16
Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families
– Journal of Clinical Neuroscience, 2019 | Citations: 14
A cross-sectional study elucidating associated predictors in postpartum depression among Pakistani women
– Proceedings of the Pakistan Academy of Sciences, 2023 | Citations: 7