Uzma Abdullah

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 11

Top Topics

Intellectual Disability

Top Venues

This page only lists publications with an associated author ORCID identifier.

Publications

Maria Asif, Uzma Abdullah, Peter Nürnberg, Sigrid Tinschert, Muhammad Sajid Hussain
Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly. Cells 12 (4) (2023)
Maria Asif, Uzma Abdullah, Peter Nürnberg, Sigrid Tinschert, Muhammad Sajid Hussain
Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly. Cells 12 (4) (2023)
Saadia Maryam Saadi, Elisa Cali, Lubaba Bintee Khalid, Hammad Yousaf, Ghazala Zafar, Haq Nawaz Khan, Muhammad Sher, Barbara Vona, Uzma Abdullah, Naveed Altaf Malik, Joakim Klar, Stephanie Efthymiou, Niklas Dahl, Henry Houlden, Mathias Toft, Shahid Mahmood Baig, Ambrin Fatima, Zafar Iqbal
Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders. Genes 14 (7) (2023)
Maria Asif, Uzma Abdullah, Peter Nürnberg, Sigrid Tinschert, Muhammad Sajid Hussain
Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly. Cells 12 (4) (2023)
Maria Asif, Maryam Anayat, Faiza Tariq, Tanzeela Noureen, Ghulam Naseer Ud Din, Christian Becker, Kerstin Becker, Holger Thiele, Ehtisham Ul Haq Makhdoom, Pakeeza Arzoo Shaiq, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain, Ghazala Kaukab Raja, Uzma Abdullah
Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability. Genes 14 (1) (2022)
Zeeshan Gauhar, Leon Tejwani, Uzma Abdullah, Sadia Saeed, Shagufta Shafique, Mazhar Badshah, Jungmin Choi, Weilai Dong, Carol Nelson-Williams, Richard P Lifton, Janghoo Lim, Ghazala Kaukab Raja
A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family. Cells 11 (19) (2022)
Maria Asif, Maryam Anayat, Faiza Tariq, Tanzeela Noureen, Ghulam Naseer Ud Din, Christian Becker, Kerstin Becker, Holger Thiele, Ehtisham Ul Haq Makhdoom, Pakeeza Arzoo Shaiq, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain, Ghazala Kaukab Raja, Uzma Abdullah
Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability. Genes 14 (1) (2022)
Maria Asif, Maryam Anayat, Faiza Tariq, Tanzeela Noureen, Ghulam Naseer Ud Din, Christian Becker, Kerstin Becker, Holger Thiele, Ehtisham Ul Haq Makhdoom, Pakeeza Arzoo Shaiq, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain, Ghazala Kaukab Raja, Uzma Abdullah
Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability. Genes 14 (1) (2022)
Maria Asif, Maryam Anayat, Faiza Tariq, Tanzeela Noureen, Ghulam Naseer Ud Din, Christian Becker, Kerstin Becker, Holger Thiele, Ehtisham Ul Haq Makhdoom, Pakeeza Arzoo Shaiq, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain, Ghazala Kaukab Raja, Uzma Abdullah
Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability. Genes 14 (1) (2022)
Ehtisham Ul Haq Makhdoom, Syeda Seema Waseem, Maria Iqbal, Uzma Abdullah, Ghulam Hussain, Maria Asif, Birgit Budde, Wolfgang Höhne, Sigrid Tinschert, Saadia Maryam Saadi, Hammad Yousaf, Zafar Ali, Ambrin Fatima, Emrah Kaygusuz, Ayaz Khan, Muhammad Jameel, Sheraz Khan, Muhammad Tariq, Iram Anjum, Janine Altmüller, Holger Thiele, Stefan Höning, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain
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 (5) (2021)
Ambrin Fatima, Uzma Abdullah, Muhammad Farooq, Yuan Mang, Mana M Mehrjouy, Maria Asif, Zafar Ali, Niels Tommerup, Shahid M Baig
Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families. Genes 12 (12) (2021)