A deep catalogue of protein-coding variation in 983,578 individuals
- Creator: Sun, Kathie Y. , Bai, Xiaodong , Gorovits, Alexander , x, , Mansfield, Adam , Boutkov, Boris , Gokhale, Sujit , Habegger, Lukas , Marcketta, Anthony , Locke, Adam E. , Ganel, Liron , Hawes, Alicia , Kessler, Michael D. , Chen, Siying , Sharma, Deepika , Lechner-Scott, Jeanette , Scott, Rodney J. , Bao, Suying , Zhang, Chuanyi , Kapoor, Manav , Backman, Joshua , Joseph, Tyler , Maxwell, Evan , Mitra, George
- Resource Type: journal article
- Date: 2024
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
- Creator: Meester, Josephina A. N. , Hebert, Anne , Blankensteijn, Jan D. , Brennan, Paul , Bucks, Stephanie A. , Campbell, Ian M. , Conrad, Solène , Curtis, Stephanie L. , Dasouki, Majed , Dent, Carolyn L. , Eden, James , Goel, Himanshu , Bastiaansen, Maaike , Oakley, Stephen P. , Houweling, AC , Isidor, B , Jackson, N , Koopman, P , Korpioja, A , Kraatari-Tiri, M , Kuulavainen, L , Lee, K , Low, KJ , Rabaut, Laura , Lu, AC , McManus, ML , Oakley, SP , Oliver, J , Organ, NM , Overwater, E , Revencu, N , Trainer, AH , Trivedi, B , Turner, CLS , Bastianen, Jarl , Whittington, R , Zankl, A , Zentner, D , Van Laer, L , Verstraeten, A , Loeys, BL , Boeckx, Nele , Ashcroft, Kathryn , Atwal, Paldeep S. , Benichou, Antoine , Billon, Clarisse
- Resource Type: journal article
- Date: 2024
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability
- Creator: Francis, David I. , Stark, Zornitza , Krzesinski, Emma I. , Vasudevan, Anand , Oertel, Ralph , Petrovic, Vida , Boys, Amber , Wei, Vivian , Burgess, Trent , Dun, Karen , Oliver, Karen L. , Baxter, Anne , Scheffer, Ingrid E. , Hackett, Anna , Ayres, S , Lunke, S , Kalitsis, P , Wall, M , Tan, Tiong Yang , Murali, Krithika , Gallacher, Lyndon , Amor, David J. , Goel, Himanshu , Downie, Lilian , Stutterd, Chloe A.
- Resource Type: journal article
- Date: 2023