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 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) ↗
3. 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) ↗