1. Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Issue 4 (30th January 2022) Authors: Gofin, Yoel; Wang, Tianyun; Gillentine, Madelyn A.; Scott, Tiana M.; Berry, Aliska M.; Azamian, Mahshid S.; Genetti, Casie; Agrawal, Pankaj B.; Picker, Jonathan; Wojcik, Monica H.; Delgado, Mauricio R.; Lynch, Sally A.; Scherer, Stephen W.; Howe, Jennifer L.; Bacino, Carlos A.; DiTroia, Stephanie... Journal: Human mutation Issue: Volume 43:Issue 4(2022) Page Start: 461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene. (January 2018) Authors: Lo, Mindy S.; Towne, Meghan; VanNoy, Grace E.; Brownstein, Catherine A.; Lane, Andrew A.; Chatila, Talal A.; Agrawal, Pankaj B. Journal: Journal of autoimmunity Issue: Volume 86(2018) Page Start: 116 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Seqr: A web‐based analysis and collaboration tool for rare disease genomics. Issue 6 (21st March 2022) Authors: Pais, Lynn S.; Snow, Hana; Weisburd, Ben; Zhang, Shifa; Baxter, Samantha M.; DiTroia, Stephanie; O'Heir, Emily; England, Eleina; Chao, Katherine R.; Lemire, Gabrielle; Osei‐Owusu, Ikeoluwa; VanNoy, Grace E.; Wilson, Michael; Nguyen, Kevin; Arachchi, Harindra; Phu, William; Solomonson, Matthew; Ma... Other Names: Boycott Kym guestEditor.; Hamosh Ada guestEditor.; Rehm Heidi guestEditor. Journal: Human mutation Issue: Volume 43:Issue 6(2022) Page Start: 698 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Three‐generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome. Issue 3 (19th January 2018) Authors: Quiñones‐Pérez, Bianca; VanNoy, Grace E.; Towne, Meghan C.; Shen, Yiping; Singh, Michael N.; Agrawal, Pankaj B.; Smith, Sharon E. Journal: American journal of medical genetics Issue: Volume 176:Issue 3(2018) Page Start: 560 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗