1. A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population. (2nd September 2013) Authors: Webb, B.D.; Brandt, T.; Liu, L.; Jalas, C.; Liao, J.; Fedick, A.; Linderman, M.D.; Diaz, G.A.; Kornreich, R.; Trachtman, H.; Mehta, L.; Edelmann, L. Journal: Clinical genetics Issue: Volume 86:Number 2(2014:Aug.) Page Start: 155 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population. (5th September 2014) Authors: Fedick, A.M.; Shi, L.; Jalas, C.; Treff, N.R.; Ekstein, J.; Kornreich, R.; Edelmann, L.; Mehta, L.; Savage, S.A. Journal: Clinical genetics Issue: Volume 88:Number 2(2015:Aug.) Page Start: 177 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population. (5th September 2014) Authors: Fedick, A.M.; Shi, L.; Jalas, C.; Treff, N.R.; Ekstein, J.; Kornreich, R.; Edelmann, L.; Mehta, L.; Savage, S.A. Journal: Clinical genetics Issue: Volume 88:Number 2(2015:Aug.) Page Start: 177 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease‐causing variants. Issue 4 (22nd August 2016) Authors: Shi, L.; Webb, B.D.; Birch, A.H.; Elkhoury, L.; McCarthy, J.; Cai, X.; Oishi, K.; Mehta, L.; Diaz, G.A.; Edelmann, L.; Kornreich, R. Journal: Clinical genetics Issue: Volume 91:Issue 4(2017) Page Start: 599 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗