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Children (Basel, Switzerland)|June 28, 2023
Microcephaly, Short Stature, Intellectual Disability, Speech Absence and Cataract Are Associated with Novel Bi-Allelic Missense Variant in RTTN Gene: A Seckel Syndrome Case ReportBehjat Ul Mudassir, Zehra Agha
Molecular Biology Reports|February 5, 2024
Novel and known minor alleles of CNTNAP2 gene variants are associated with comorbidity of intellectual disability and epilepsy phenotypes: a case-control association study reveals potential biomarkersBehjat Ul Mudassir, Zehra Agha
Plos One|January 8, 2025
Denovo variants in POGZ and YY1 genes: The novel mega players for neurodevelopmental syndromes in two unrelated consanguineous familiesBehjat Ul Mudassir, Mujaddid Mudassir, Jamal B Williams, et al.
Biomedicines|January 8, 2025
Genetic Heterogeneity in Four Probands Reveals HGSNAT, KDM6B, LMNA and WFS1 Related Neurodevelopmental DisordersBehjat Ul Mudassir, Mujaddid Mudassir, Jamal B Williams, et al.
Gene|February 14, 2013
A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani familyZehra Agha, Zafar Iqbal, Maleeha Azam, et al.
Biomedicines|March 28, 2025
Association of Monoamine Oxidase A Gene Promoter Region (30 bp μVNTR) Polymorphism with Serum Levels in Multiple Psychiatric DisordersAisha Nasir Hashmi, Rizwan Taj, Zehra Agha, et al.
Heliyon|October 9, 2023
Genome-wide CNV analysis uncovers novel pathogenic regions in cohort of five multiplex families with neurodevelopmental disordersBehjat Ul Mudassir, Mashael Alhumaidi Alotaibi, Nadeem Kizilbash, et al.
The International Journal of Neuroscience|August 29, 2023
Association of 11 variants of the dopaminergic and cognitive pathways genes with major depression, schizophrenia and bipolar disorder in the Pakistani populationAisha Nasir Hashmi, Merlyn Sabina Raja, Rizwan Taj, et al.
European Archives of Psychiatry and Clinical Neuroscience|December 30, 2022
Contributing risk factors of common psychiatric disorders in the Pakistani populationAisha Nasir Hashmi, Raheel Qamar, Rizwan Taj, et al.
Genetics Research|October 7, 2015
A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesisZehra Agha, Zafar Iqbal, Tjitske Kleefstra, et al.
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