1. A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family. (July 2016) Authors: Jelani, Musharraf; Kang, Changsoo; Mohamoud, Hussein Sheikh Ali; Al-Rehaili, Rayan; Almramhi, Mona Mohammad; Serafi, Rehab; Yang, Huanming; Al-Aama, Jumana Yousuf; Naeem, Muhammad; Alkhiary, Yaser Mohammad Journal: Archives of oral biology Issue: Volume 67(2016) Page Start: 28 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel variant in the DSE gene leads to Ehlers–Danlos musculocontractural type 2 in a Pakistani family. (13th July 2021) Authors: Ullah, Ikram; Aamir, Muhammad; Ilyas, Muhammad; Ahmed, Akmal; Jelani, Musharraf; Ullah, Wahid; Abbas, Muhammad; Ishfaq, Muhammad; Ali, Fawad; Yip, Janice; Efthymiou, Stephanie; Ahmed, Habib; Houlden, Henry Journal: Congenital anomalies Issue: Volume 61:Number 5(2021) Page Start: 177 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families. (5th August 2019) Authors: Sadia, ; Foo, Jia Nee; Khor, Chiea Chuen; Jelani, Musharraf; Ali, Ghazanfar Journal: Journal of gene medicine Issue: Volume 21:Number 9(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Case of Sjögren–Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis. Issue 7 (9th April 2015) Authors: Gaboon, Nagwa E. A.; Jelani, Musharraf; Almramhi, Mona M.; Mohamoud, Hussein S. A.; Al‐Aama, Jumana Y. Journal: Journal of dermatology Issue: Volume 42:Issue 7(2015) Page Start: 706 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families. (17th February 2020) Authors: Ali, Ghazanfar; Awan, Naheed Bashir; Sadia, ; Khawaja, Abdul Waheed; Foo, Jia Nee; Khor, Chiea Chuen; Chang, Chu‐Hua; Chew, Elaine GuoYan; Kiani, Farhat Rafique; Jelani, Musharraf Journal: Journal of gene medicine Issue: Volume 22:Number 5(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole‐Exome Analysis in a Consanguineous Family. (23rd June 2015) Authors: Serafi, Rehab; Jelani, Musharraf; Almramhi, Mona M.; Mohamoud, Hussein S.A.; Ahmed, Saleem; Alkhiary, Yaser M.; Zhang, Jianguo; Yang, Huanming; Al‐Aama, Jumana Y. Journal: Annals of human genetics Issue: Volume 79:Number 5(2015:Sep.) Page Start: 350 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non‐Herlitz junctional epidermolysis bullosa in two paternal half‐brothers from Saudi Arabia. (6th July 2018) Authors: Al‐Zahrani, Hams S.; Al‐Tala, Saeed; Mohamoud, Hussein S. A.; Al‐Shehri, Bandar A.; Al‐Fadhel, Saeed; Al‐Qurashi, Ali; Al‐Bishri, Ahmad; Al‐Aama, Jumana Y.; Kang, Changsoo; Betz, Regina C.; Jelani, Musharraf Journal: Congenital anomalies Issue: Volume 59:Number 3(2019) Page Start: 99 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Novel insertion and a previously reported nonsense variant of ALOXE3 gene lead to autosomal recessive ichthyosis in two Balochi families. (12th October 2018) Authors: Ijaz, Ambreen; Jelani, Musharraf; Panezai, Anila; Rabbani, Tahmina; Rasool, Iftikhar A.; Ahmad, Jamil; Wali, Abdul Journal: Congenital anomalies Issue: Volume 59:Number 5(2019) Page Start: 179 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Novel missense alteration in LRP4 gene underlies Cenani–Lenz syndactyly syndrome in a consanguineous family. (3rd January 2020) Authors: Alrayes, Nuha; Aziz, Abdul; Ullah, Farman; Ishfaq, Muhammad; Jelani, Musharraf; Wali, Abdul Journal: Journal of gene medicine Issue: Volume 22:Number 1(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Novel splice site mutation in EIF2AK3 gene causes Wolcott‐Rallison syndrome in a consanguineous family from Saudi Arabia. (29th March 2017) Authors: Al‐Aama, Jumana Yousuf; Al‐Zahrani, Hams Saeed; Jelani, Musharraf; Sabir, Hesham Salih; Al‐Saeedi, Saad Abdullah; Ahmed, Saleem Journal: Congenital anomalies Issue: Volume 58:Number 1(2018) Page Start: 39 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗