1. KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations. Issue 7 (5th May 2020) Authors: Al Dhaheri, Noura; Wu, Nan; Zhao, Sen; Wu, Zhihong; Blank, Robert D.; Zhang, Jianguo; Raggio, Cathy; Halanski, Matthew; Shen, Jianxiong; Noonan, Ken; Qiu, Guixing; Nemeth, Blaise; Sund, Sarah; Dunwoodie, Sally L.; Chapman, Gavin; Glurich, Ingrid; Steiner, Robert D.; Wohler, Elizabeth; Martin, Ren... Journal: American journal of medical genetics Issue: Volume 182:Issue 7(2020) Page Start: 1664 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. MBRS-38. IDENTIFYING THE MOST FREQUENT VARIANTS IN PEDIATRIC MEDULLOBLASTOMA DRIVER GENES: A SINGLE INSTITUTION STUDY. Issue 2 (22nd June 2018) Authors: Mascaro-Cordeiro, Bruna; Oliveira, Indhira; Santos, Leonardo; Martin, Renan; Silva, Rafael; Alves, Maria Teresa; Saba-Silva, Nasjla; Dastoli, Patricia; Cavalheiro, Sergio; Toledo, Silvia Journal: Neuro-oncology Issue: Volume 20:Issue 2(2018)supplement 2 Page Start: i136 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. PROM1 gene variations in Brazilian patients with macular dystrophy. (2nd January 2017) Authors: Salles, Mariana Vallim; Motta, Fabiana Louise; Dias da Silva, Elton; Varela Lima Teixeira, Patricia; Antunes Costa, Kárita; Filippelli-Silva, Rafael; Martin, Renan; Pesquero, João Bosco; Ferraz Sallum, Juliana Maria Journal: Ophthalmic genetics Issue: Volume 38:Number 1(2017) Page Start: 39 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Relative frequency of inherited retinal dystrophies in Brazil. Issue 1 (December 2018) Authors: Motta, Fabiana; Martin, Renan; Filippelli-Silva, Rafael; Salles, Mariana; Sallum, Juliana Journal: Scientific reports Issue: Volume 8:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. The impact of GeneMatcher on international data sharing and collaboration. Issue 6 (28th March 2022) Authors: Hamosh, Ada; Wohler, Elizabeth; Martin, Renan; Griffith, Sean; Rodrigues, Eliete da S.; Antonescu, Corina; Doheny, Kimberly F.; Valle, David; Sobreira, Nara Other Names: Boycott Kym guestEditor.; Hamosh Ada guestEditor.; Rehm Heidi guestEditor. Journal: Human mutation Issue: Volume 43:Issue 6(2022) Page Start: 668 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Variant‐level matching for diagnosis and discovery: Challenges and opportunities. Issue 6 (21st March 2022) Authors: Rodrigues, Eliete da S.; Griffith, Sean; Martin, Renan; Antonescu, Corina; Posey, Jennifer E.; Coban‐Akdemir, Zeynep; Jhangiani, Shalini N.; Doheny, Kimberly F.; Lupski, James R.; Valle, David; Bamshad, Michael J.; Hamosh, Ada; Sheffer, Assaf; Chong, Jessica X.; Einhorn, Yaron; Cupak, Miro; Sobre... Other Names: Boycott Kym guestEditor.; Hamosh Ada guestEditor.; Rehm Heidi guestEditor. Journal: Human mutation Issue: Volume 43:Issue 6(2022) Page Start: 782 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗