1. Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability. Issue 5 (28th June 2021) Authors: Tan, Natalie B; Pagnamenta, Alistair T; Ferla, Matteo P; Gadian, Jonathan; Chung, Brian HY; Chan, Marcus CY; Fung, Jasmine LF; Cook, Edwin; Guter, Stephen; Boschann, Felix; Heinen, Andre; Schallner, Jens; Mignot, Cyril; Keren, Boris; Whalen, Sandra; Sarret, Catherine; Mittag, Dana; Demmer, Laurie... Journal: Journal of medical genetics Issue: Volume 59:Issue 5(2022) Page Start: 511 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Variable skeletal phenotypes associated with biallelic variants in PRKG2. Issue 10 (15th November 2021) Authors: Pagnamenta, Alistair T; Diaz-Gonzalez, Francisca; Banos-Pinero, Benito; Ferla, Matteo P; Toosi, Mehran B; Calder, Alistair D; Karimiani, Ehsan G; Doosti, Mohammad; Wainwright, Andrew; Wordsworth, Paul; Bailey, Kathryn; Ejeskär, Katarina; Lester, Tracy; Maroofian, Reza; Heath, Karen E; Tajsharghi,... Other Names: author non-byline.; Ambrose John C author non-byline.; Arumugam Prabhu author non-byline.; Bevers Roel author non-byline.; Bleda Marta author non-byline.; Boardman-Pretty Freya author non-byline.; Boustred Christopher R author non-byline.; Brittain Helen author non-byline.; Caulfield Mark J auth... Journal: Journal of medical genetics Issue: Volume 59:Issue 10(2022) Page Start: 947 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗