1. A 24‐generation‐old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Issue 4 (16th July 2021) Authors: Kaygusuz, Emrah; Khayyat, Arwa Ishaq A.; Abdullah, Uzma; Budde, Birgit Susanne; Asif, Maria; Ahmed, Ilyas; Makhdoom, Ehtisham Ul Haq; Sur‐Erdem, Ilknur; Baig, Jamshaid Mahmood; Khan, Muhammad Mohsin Ali; Toliat, Mohammad Reza; Becker, Christian; Anwar, Haseeb; Iqbal, Maria; Fischer, Sarah; Jameel... Journal: Clinical genetics Issue: Volume 100:Issue 4(2021) Page Start: 486 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family. (2nd September 2019) Authors: Sher, Muhammad; Farooq, Muhammad; Abdullah, Uzma; Ali, Zafar; Faryal, Sanam; Zakaria, Mohammad; Ullah, Farid; Bukhari, Hassan; Møller, Rikke S.; Tommerup, Niels; Baig, Shahid Mahmood Journal: International journal of neuroscience Issue: Volume 129:Number 9(2019) Page Start: 890 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel missense variant of SCN4A co‐segregates with congenital essential tremor in a consanguineous Kurdish family. Issue 4 (16th December 2021) Authors: Asif, Maria; Mocanu, Ionut Dragos; Abdullah, Uzma; Höhne, Wolfgang; Altmüller, Janine; Makhdoom, Ehtisham Ul Haq; Thiele, Holger; Baig, Shahid Mahmood; Nürnberg, Peter; Graul‐Neumann, Luitgard; Hussain, Muhammad Sajid Journal: American journal of medical genetics Issue: Volume 188:Issue 4(2022) Page Start: 1251 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan. Issue 9 (17th July 2020) Authors: Rasool, Sajida; Baig, Jamshaid Mahmood; Moawia, Abubakar; Ahmad, Ilyas; Iqbal, Maria; Waseem, Syeda Seema; Asif, Maria; Abdullah, Uzma; Makhdoom, Ehtisham Ul Haq; Kaygusuz, Emrah; Zakaria, Muhammad; Ramzan, Shafaq; Haque, Saif ul; Mir, Asif; Anjum, Iram; Fiaz, Mehak; Ali, Zafar; Tariq, Muhammad; ... Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 9(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis. Issue 10 (October 2017) Authors: Abdullah, Uzma; Farooq, Muhammad; Fatima, Ambrin; Tauseef, Wasima; Sarwar, Yasra; Nuri, Mmh; Tommerup, Niels; Baig, Shahid M. Journal: Nephrology Issue: Volume 22:Issue 10(2017) Page Start: 818 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family. (December 2021) Authors: Zulfiqar, Shumaila; Tariq, Muhammad; Ramzan, Shafaq; Khan, Ayaz; Sher, Muhammad; Ali, Zafar; Dahl, Niklas; Abdullah, Uzma; Mahmood Baig, Shahid Journal: Journal of clinical neuroscience Issue: Volume 94(2021) Page Start: 8 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mutations of KIF14 cause primary microcephaly by impairing cytokinesis. Issue 4 (14th October 2017) Authors: Moawia, Abubakar; Shaheen, Ranad; Rasool, Sajida; Waseem, Syeda Seema; Ewida, Nour; Budde, Birgit; Kawalia, Amit; Motameny, Susanne; Khan, Kamal; Fatima, Ambrin; Jameel, Muhammad; Ullah, Farid; Akram, Talia; Ali, Zafar; Abdullah, Uzma; Irshad, Saba; Höhne, Wolfgang; Noegel, Angelika Anna; Al‐Owai... Journal: Annals of neurology Issue: Volume 82:Issue 4(2017) Page Start: 562 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42. Issue 7 (24th May 2019) Authors: Zakaria, Muhammad; Fatima, Ambrin; Klar, Joakim; Wikström, Johan; Abdullah, Uzma; Ali, Zafar; Akram, Talia; Tariq, Muhammad; Ahmad, Habib; Schuster, Jens; Baig, Shahid M; Dahl, Niklas Journal: Human mutation Issue: Volume 40:Issue 7(2019) Page Start: 899 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families. (September 2019) Authors: Zulfiqar, Shumaila; Tariq, Muhammad; Ali, Zafar; Fatima, Ambrin; Klar, Joakim; Abdullah, Uzma; Ali, Aamir; Ramzan, Shafaq; He, Sijie; Zhang, Jianguo; Khan, Ayaz; Shah, Suleman; Khan, Sheraz; Makhdoom, Ehtishamul Haq; Schuster, Jens; Dahl, Niklas; Baig, Shahid Mahmood Journal: Journal of clinical neuroscience Issue: Volume 67(2019) Page Start: 19 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗