1. A single‐center SCN8A‐related epilepsy cohort: clinical, genetic, and physiologic characterization. Issue 8 (23rd July 2019) Authors: Zaman, Tariq; Abou Tayoun, Ahmad; Goldberg, Ethan M. Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 8(2019) Page Start: 1445 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss. (December 2018) Authors: Guan, Qiaoning; Balciuniene, Jorune; Cao, Kajia; Fan, Zhiqian; Biswas, Sawona; Wilkens, Alisha; Gallo, Daniel; Bedoukian, Emma; Tarpinian, Jennifer; Jayaraman, Pushkala; Sarmady, Mahdi; Dulik, Matthew; Santani, Avni; Spinner, Nancy; Abou Tayoun, Ahmad; Krantz, Ian; Conlin, Laura; Luo, Minjie Journal: Genetics in medicine Issue: Volume 20:Number 12(2018) Page Start: 1600 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cover, Volume 42, Issue 12. Issue 12 (19th November 2021) Authors: Peng, Jiguang; Xiang, Jiale; Jin, Xiangqian; Meng, Junhua; Song, Nana; Chen, Lisha; Abou Tayoun, Ahmad; Peng, Zhiyu Journal: Human mutation Issue: Volume 42:Issue 12(2021) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genotype‐phenotype correlation identified a novel SARS‐CoV‐2 variant possibly linked to severe disease. Issue 2 (21st February 2021) Authors: Loney, Tom; Khansaheb, Hamda; Ramaswamy, Sathishkumar; Harilal, Divinlal; Deesi, Zulfa Omar; Varghese, Rupa Murthy; Belal Al Ali, Aydah; Khadeeja, Anees; Al Suwaidi, Hanan; Alkhajeh, Abdulmajeed; Mohamed AlDabal, Laila; Uddin, Mohammed; Al Faresi, Mubarak; Joshi, Madhvi; Senok, Abiola; Nowotny, N... Journal: Transboundary and emerging diseases Issue: Volume 69:Issue 2(2022) Page Start: 465 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. SARS-CoV-2 Whole Genome Amplification and Sequencing for Effective Population-Based Surveillance and Control of Viral Transmission. (28th October 2020) Authors: Harilal, Divinlal; Ramaswamy, Sathishkumar; Loney, Tom; Suwaidi, Hanan Al; Khansaheb, Hamda; Alkhaja, Abdulmajeed; Varghese, Rupa; Deesi, Zulfa; Nowotny, Norbert; Alsheikh-Ali, Alawi; Abou Tayoun, Ahmad Journal: Clinical chemistry Issue: Volume 66:Number 11(2020) Page Start: 1450 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. The genomic landscape of pediatric rheumatology disorders in the Middle East. Issue 4 (7th February 2021) Authors: Fathalla, Basil M.; Alsarhan, Ali; Afzal, Samina; El Naofal, Maha; Abou Tayoun, Ahmad Journal: Human mutation Issue: Volume 42:Issue 4(2021) Page Start: e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Using Machine Learning to Identify True Somatic Variants from Next-Generation Sequencing. (30th December 2019) Authors: Wu, Chao; Zhao, Xiaonan; Welsh, Mark; Costello, Kellianne; Cao, Kajia; Abou Tayoun, Ahmad; Li, Marilyn; Sarmady, Mahdi Journal: Clinical chemistry Issue: Volume 66:Number 1(2020) Page Start: 239 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Utility of droplet digital PCR and NGS-based CNV clinical assays in hearing loss diagnostics: current status and future prospects. (1st February 2021) Authors: Rentas, Stefan; Abou Tayoun, Ahmad Journal: Expert review of molecular diagnostics Issue: Volume 21:Number 2(2021) Page Start: 213 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. VIP‐HL: Semi‐automated ACMG/AMP variant interpretation platform for genetic hearing loss. Issue 12 (2nd September 2021) Authors: Peng, Jiguang; Xiang, Jiale; Jin, Xiangqian; Meng, Junhua; Song, Nana; Chen, Lisha; Abou Tayoun, Ahmad; Peng, Zhiyu Journal: Human mutation Issue: Volume 42:Issue 12(2021) Page Start: 1567 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗