1. Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans. Issue 6 (20th February 2020) Authors: Shaheen, Ranad; Alsahli, Saud; Ewida, Nour; Alzahrani, Fatema; Shamseldin, Hanan E.; Patel, Nisha; Al Qahtani, Awad; Alhebbi, Homoud; Alhashem, Amal; Al‐Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Abouelhoda, Mohamed; Monies, Dorota; Al‐Hussaini, Abdulrahman; Alzouman, Muneerah A.; Shagrani, Moha... Journal: Hepatology Issue: Volume 71:Issue 6(2020) Page Start: 2067 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar‐vermis hypoplasia. Issue 6 (26th March 2019) Authors: Abdel‐Salam, Ghada M. H.; Mazen, Inas; Eid, Maha; Ewida, Nour; Shaheen, Ranad; Alkuraya, Fowzan S. Journal: American journal of medical genetics Issue: Volume 179:Issue 6(2019) Page Start: 1053 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34. Issue 11 (29th July 2019) Authors: Shaheen, Ranad; Mark, Paul; Prevost, Christopher T.; AlKindi, Adila; Alhag, Ahmad; Estwani, Fatima; Al‐Sheddi, Tarfa; Alobeid, Eman; Alenazi, Mona M.; Ewida, Nour; Ibrahim, Niema; Hashem, Mais; Abdulwahab, Firdous; Bryant, Emily M.; Spinelli, Egidio; Millichap, John; Barnett, Sarah S.; Kearney, H... Journal: Human mutation Issue: Volume 40:Issue 11(2019) Page Start: 2108 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Characterizing the morbid genome of ciliopathies. Issue 1 (December 2016) Authors: Shaheen, Ranad; Szymanska, Katarzyna; Basu, Basudha; Patel, Nisha; Ewida, Nour; Faqeih, Eissa; Al Hashem, Amal; Derar, Nada; Alsharif, Hadeel; Aldahmesh, Mohammed; Alazami, Anas; Hashem, Mais; Ibrahim, Niema; Abdulwahab, Firdous; Sonbul, Rawda; Alkuraya, Hisham; Alnemer, Maha; Al Tala, Saeed; Al-... Journal: Genome biology Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expanding the phenome and variome of skeletal dysplasia. (December 2018) Authors: Maddirevula, Sateesh; Alsahli, Saud; Alhabeeb, Lamees; Patel, Nisha; Alzahrani, Fatema; Shamseldin, Hanan; Anazi, Shams; Ewida, Nour; Alsaif, Hessa; Mohamed, Jawahir; Alazami, Anas; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Abouelhoda, Mohamed; Monies, Dorota; Al Tassan, Nada; Alshammari... Journal: Genetics in medicine Issue: Volume 20:Number 12(2018) Page Start: 1609 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. PLXNA2 as a candidate gene in patients with intellectual disability. Issue 12 (29th July 2021) Authors: Altuame, Fadie D.; Shamseldin, Hanan E.; Albatti, Turki H.; Hashem, Mais; Ewida, Nour; Abdulwahab, Firdous; Alkuraya, Fowzan S. Journal: American journal of medical genetics Issue: Volume 185:Issue 12(2021) Page Start: 3859 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The genetic landscape of familial congenital hydrocephalus. Issue 6 (June 2017) Authors: Shaheen, Ranad; Sebai, Mohammed Adeeb; Patel, Nisha; Ewida, Nour; Kurdi, Wesam; Altweijri, Ikhlass; Sogaty, Sameera; Almardawi, Elham; Seidahmed, Mohammed Zain; Alnemri, Abdulrahman; Madirevula, Sateesh; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Al‐Sheddi, Tarfa; Alomar, Rana; Alobeid, E... Journal: Annals of neurology Issue: Volume 81:Issue 6(2017) Page Start: 890 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. The many faces of peroxisomal disorders: Lessons from a large Arab cohort. Issue 2 (18th December 2018) Authors: Alshenaifi, Jumanah; Ewida, Nour; Anazi, Shams; Shamseldin, Hanan E.; Patel, Nisha; Maddirevula, Sateesh; Al‐Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Ibrahim, Niema; Hashem, Mais; Abdulwahab, Firdous; Jacob, Minnie; Alhashem, Amal; Alzaidan, Hamad I.; Seidahmed, Mohammed Z.; Alhashemi, Nadia; ... Journal: Clinical genetics Issue: Volume 95:Issue 2(2019) Page Start: 310 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗