1. Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy. Issue 6 (20th January 2016) Authors: Edvardson, Simon; Yi, Jae Kyo; Jalas, Chaim; Xu, Ruijuan; Webb, Bryn D; Snider, Justin; Fedick, Anastasia; Kleinman, Elisheva; Treff, Nathan R; Mao, Cungui; Elpeleg, Orly Journal: Journal of medical genetics Issue: Volume 53:Issue 6(2016) Page Start: 389 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Exome sequencing links CEP120 mutation to maternally derived aneuploid conception risk. Issue 9 (9th August 2020) Authors: Tyc, Katarzyna M; El Yakoubi, Warif; Bag, Aishee; Landis, Jessica; Zhan, Yiping; Treff, Nathan R; Scott, Richard T; Tao, Xin; Schindler, Karen; Xing, Jinchuan Journal: Human reproduction Issue: Volume 35:Issue 9(2020) Page Start: 2134 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Investigating the impact of the timing of blastulation on implantation: management of embryo-endometrial synchrony improves outcomes. Issue 4 (20th December 2018) Authors: Franasiak, Jason M; Forman, Eric J; Patounakis, George; Hong, Kathleen H; Werner, Marie D; Upham, Kathleen M; Treff, Nathan R; Scott, Richard T Journal: Human reproduction open Issue: Issue 4(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene. Issue 2 (6th November 2015) Authors: Edvardson, Simon; Kose, Shingo; Jalas, Chaim; Fattal-Valevski, Aviva; Watanabe, Ai; Ogawa, Yutaka; Mamada, Hiroshi; Fedick, Anastasia M; Ben-Shachar, Shay; Treff, Nathan R; Shaag, Avraham; Bale, Sherri; Gärtner, Jutta; Imamoto, Naoko; Elpeleg, Orly Journal: Journal of medical genetics Issue: Volume 53:Issue 2(2016) Page Start: 132 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis. Issue 11 (12th September 2013) Authors: Edvardson, Simon; Ashikov, Angel; Jalas, Chaim; Sturiale, Luisa; Shaag, Avraham; Fedick, Anastasia; Treff, Nathan R; Garozzo, Domenico; Gerardy-Schahn, Rita; Elpeleg, Orly Journal: Journal of medical genetics Issue: Volume 50:Issue 11(2013) Page Start: 733 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. PREIMPLANTATION GENETIC TESTING: Preimplantation genetic testing for polygenic disease risk. Issue 5 (November 2020) Authors: Treff, Nathan R; Marin, Diego; Lello, Louis; Hsu, Stephen; Tellier, Laurent C A M Journal: Reproduction Issue: Volume 160:Issue 5(2020) Page Start: A13 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. PREIMPLANTATION GENETIC TESTING: Preimplantation genetic testing for polygenic disease risk. Issue 5 (November 2020) Authors: Treff, Nathan R; Marin, Diego; Lello, Louis; Hsu, Stephen; Tellier, Laurent C A M Journal: Reproduction Issue: Volume 160:Issue 5(2020) Page Start: A13 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗