Faculty & Staff
Dr. Uzma Abdullah
Assistant Professor (TTS) (HEC Approved Supervisor)
Ph.D (Biotechnology) National Institute for Biotechnology and Genetic Engineering (NIBGE)- School of Biotechnology. Pakistan Institute of Engineering and Applied Sciences (PIEAS). Pakistan
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Email : uzma.abdullah@uaar.edu.pk
Address : University Institute of Biochemistry and Biotechnology (UIBB), PMAS Arid Agriculture University Rawalpindi Shamsabad, Murree Road Rawalpindi
Work Experience : 2 Year(s)
Research Interest :
  • Human Molecular Genetics
  • Mendelian disorders
  • Total Publications : 18
    Publications (Latest Ten)
    1. Emrah Kaygusuz, Arwa Ishaq A Khayyat, Uzma Abdullah, Birgit Susanne Budde, Maria Asif, Ilyas Ahmed, Ehtisham Ul Haq Makhdoom, Ilknur Sur-Erdem, Jamshaid Mahmood Baig, and Muhammad Mohsin Ali Khan. "A 24-Generation-Old Founder Mutation Impairs Splicing of Rbbp8 in Pakistani Families Affected with Jawad Syndrome." Clinical Genetics (2021).

    2. Maria Iqbal, Reza Maroofian, Bu?ranur Cavdarl?, Florence Riccardi, Michael Field, Siddharth Banka, Dalal K Bubshait, Yun Li, Jozef Hertecant, and Shahid Mahmood Baig. "Biallelic Variants in Pcdhgc4 Cause a Novel Neurodevelopmental Syndrome with Progressive Microcephaly, Seizures, and Joint Anomalies." Genetics in Medicine (2021): 1- 12.

    3. Ehtisham Ul Haq Makhdoom, Syeda Seema Waseem, Maria Iqbal, Uzma Abdullah, Ghulam Hussain, Maria Asif, Birgit Budde, Wolfgang Hohne, Sigrid Tinschert, and Saadia Maryam Saadi. "Modifier Genes in Microcephaly: A Report on Wdr62, Cep63, Rad50 and Pcnt Variants Exacerbating Disease Caused by Biallelic Mutations of Aspm and Cenpj." Genes 12, no. 5 (2021): 731.

    4. Ambrin Fatima, Jan Hoeber, Jens Schuster, Eriko Koshimizu, Carolina Maya-Gonzalez, Boris Keren, Cyril Mignot, Talia Akram, Zafar Ali, and Satoko Miyatake. "Monoallelic and Bi-Allelic Variants in Ncdn Cause Neurodevelopmental Delay, Intellectual Disability, and Epilepsy." The American Journal of Human Genetics 108, no. 4 (2021): 739-48.

    5. Sanam Faryal, Muhammad Farooq, Uzma Abdullah, Zafar Ali, Saadia Maryam Saadi, Farid Ullah, Kamal Khan, Yasra Sarwar, Muhammad Sher, and Anuja Arora Chopra. "A Gdf5 Frameshift Mutation Segregating with Grebe Type Chondrodysplasia and Brachydactyly Type C+ in a 6 Generations Family: Clinical Report and Mini Review." European Journal of Medical Genetics (2021): 104226.

    6. Sajida Rasool,, Jamshaid Mahmood Baig, Abubakar Moawia, Ilyas Ahmad, Maria Iqbal, Syeda Seema Waseem, Maria Asif, Uzma Abdullah, Ehtisham Ul Haq Makhdoom, and Emrah Kaygusuz. "An Update of Pathogenic Variants in Aspm, Wdr62, Cdk5rap2, Stil, Cenpj, and Cep135 Underlying Autosomal Recessive Primary Microcephaly in 32 Consanguineous Families from Pakistan." Molecular genetics & genomic medicine 8, no. 9 (2020): e1408.

    7. Moawia, Abubakar, Ranad Shaheen, Sajida Rasool, Syeda Seema Waseem, Nour Ewida, Birgit Budde, Amit Kawalia, Susanne Motameny, Kamal Khan, and Ambrin Fatima. "Mutations of Kif14 Cause Primary Microcephaly by Impairing Cytokinesis." Annals of Neurology 82, no. 4 (2017): 562-77.

    8. Zakaria, Muhammad, Ambrin Fatima, Joakim Klar, Johan Wikstrom, Uzma Abdullah, Zafar Ali, Talia Akram, Muhammad Tariq, Habib Ahmad, and Jens Schuster. "Primary Microcephaly, Primordial Dwarfism, and Brachydactyly in Adult Cases with Biallelic Skipping of Rttn Exon 42." Human mutation 40, no. 7 (2019): 899-903.

    9. Abdullah, Uzma, Muhammad Farooq, Ambrin Fatima, Wasima Tauseef, Yasra Sarwar, Mmh Nuri, Niels Tommerup, and Shahid M Baig. "Homozygous Mutation in the Nphp3 Gene Causing Foetal Nephronophthisis." Nephrology 22, no. 10 (2017): 818-20.

    10. Abdullah, Uzma, Muhammad Farooq, Yuan Mang, Syeda Marriam Bakhtiar, Ambrin Fatima, Lars Hansen, Klaus Wilbrandt Kjaer, Lars Allan Larsen, Niels Tommerup, and Shahid Mahmood Baig. "A Novel Mutation in Cdk5rap2 Gene Causes Primary Microcephaly with Speech Impairment and Sparse Eyebrows in a Consanguineous Pakistani Family." European Journal of Medical Genetics (2017).

    University Institute of Biochemistry and Biotechnology
    Professor / Director
    Phone #: +92-51-9062743
    javaidasad@uaar.edu.pk