1. A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent. (3rd May 2013) Authors: Fedick, A.; Jalas, C.; Treff, N.R. Journal: Clinical genetics Issue: Volume 85:Number 4(2014:Apr.) Page Start: 343 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population. (31st July 2014) Authors: Anderson, S.L.; Jalas, C.; Fedick, A.; Reid, K.F.; Carpenter, T.O.; Chirnomas, D.; Treff, N.R.; Ekstein, J.; Rubin, B.Y. Journal: Clinical genetics Issue: Volume 88:Number 1(2015:Jul.) Page Start: 74 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Carrier frequency of two BBS2 mutations in the Ashkenazi population. (28th July 2013) Authors: Fedick, A.; Jalas, C.; Abeliovich, D.; Krakinovsky, Y.; Ekstein, J.; Ekstein, A.; Treff, N.R. Journal: Clinical genetics Issue: Volume 85:Number 6(2014:Jun.) Page Start: 578 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗