1. A homozygous missense variant in the homeobox domain of the NKX6‐2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations. (16th April 2020) Authors: Almatrafi, Ahmad; Umair, Muhammad; Eldardear, Amr; Al‐Luqmani, Majid; Hashmi, Jamil A.; Albalawi, Alia M.; Alfadhel, Majid; Ramzan, Khushnooda; Basit, Sulman Journal: Journal of gene medicine Issue: Volume 22:Number 8(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration. Issue 4 (17th December 2021) Authors: Ain ul Batool, Syeda; Almatrafi, Ahmad; Fadhli, Fatima; Alluqmani, Majed; Sadia, ; Ali, Ghazanfar; Basit, Sulman Journal: American journal of medical genetics Issue: Volume 188:Issue 4(2022) Page Start: 1075 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel homozygous frameshift mutation in the DCC gene in a Pakistani family with autosomal recessive horizontal gaze palsy with progressive scoliosis‐2 with impaired intellectual development. Issue 2 (3rd November 2020) Authors: Zaka, Ayesha; Shahzad, Shaheen; Rao, Hadi Zahid; Hashim, Yasmin; Basit, Sulman Journal: American journal of medical genetics Issue: Volume 185:Issue 2(2021) Page Start: 355 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome. (4th July 2017) Authors: Ullah, Asmat; Umair, Muhammad; Ahmad, Farooq; Muhammad, Dost; Basit, Sulman; Ahmad, Wasim Journal: Ophthalmic genetics Issue: Volume 38:Number 4(2017) Page Start: 335 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A novel missense variant in the RASGRP2 gene in patients with moderate to severe bleeding disorder. (3rd July 2020) Authors: Alharby, Essa; Bakhsh, Mohammad A; Albalawi, Alia M; Almutairi, Sultan O; Hashmi, Jamil A; Basit, Sulman Journal: Platelets Issue: Volume 31:Number 5(2020) Page Start: 646 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. A novel missense variant in the RASGRP2 gene in patients with moderate to severe bleeding disorder. (3rd July 2020) Authors: Alharby, Essa; Bakhsh, Mohammad A; Albalawi, Alia M; Almutairi, Sultan O; Hashmi, Jamil A; Basit, Sulman Journal: Platelets Issue: Volume 31:Number 5(2020) Page Start: 646 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family. (28th December 2017) Authors: Khan, Anwar Kamal; Muhammad, Noor; Khan, Sher Alam; Ullah, Waheed; Nasir, Abdul; Afzal, Sibtain; Ramzan, Khushnooda; Basit, Sulman; Khan, Saadullah Journal: Annals of human genetics Issue: Volume 82:Number 3(2018:May) Page Start: 171 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015). (July 2016) Authors: Shay, Jerry; Homma, Noriko; Zhou, Ruyun; Naseer, Muhammad; Chaudhary, Adeel; Al-Qahtani, Mohammed; Hirokawa, Nobutaka; Goudarzi, Maryam; Fornace, Albert; Baeesa, Saleh; Hussain, Deema; Bangash, Mohammed; Alghamdi, Fahad; Schulten, Hans-Juergen; Carracedo, Angel; Khan, Ishaq; Qashqari, Hanadi; Mad... Journal: BMC genomics Issue: Volume 17:Number 6(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay. (2nd October 2022) Authors: Rafiullah, Rafiullah; Albalawi, Alia M.; Alaradi, Sultan R.; Alluqmani, Majed; Mushtaq, Muhammad; Wali, Abdul; Basit, Sulman Journal: Journal of neurogenetics Issue: Volume 36:Number 4(2022) Page Start: 108 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. An intrafamilial phenotypic variability in Ellis‐Van Creveld syndrome due to a novel 27 bps deletion mutation. Issue 10 (26th May 2021) Authors: Zaka, Ayesha; Shahzad, Shaheen; Rao, Hadi Zahid; Kanwal, Sadia; Gul, Asma; Basit, Sulman Journal: American journal of medical genetics Issue: Volume 185:Issue 10(2021) Page Start: 2888 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗