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 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) ↗
3. Confirming the recessive inheritance of PERP‐related erythrokeratoderma. Issue 4 (12th January 2020) Authors: Patel, Nisha; Alkeraye, Salim; Alobeid, Eman; Alshidi, Tarfa; Helaby, Rana; Abdulwahab, Firdous; Shamseldin, Hanan E.; Alkuraya, Fowzan S. Journal: Clinical genetics Issue: Volume 97:Issue 4(2020) Page Start: 661 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. 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) ↗