-
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).
-
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.
-
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.
-
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.
-
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.
-
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.
-
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.
-
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.
-
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.
-
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).
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