1. Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance. Issue 2 (4th January 2019) Authors: Woodward, Karen J.; Stampalia, Julie; Vanyai, Hannah; Rijhumal, Hashika; Potts, Kim; Taylor, Fiona; Peverall, Joanne; Grumball, Tanya; Sivamoorthy, Soruba; Alinejad‐Rokny, Hamid; Wray, John; Whitehouse, Andrew; Nagarajan, Lakshmi; Scurlock, Jacqueline; Afchani, Sabine; Edwards, Matthew; Murch, As... Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 2(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Further heterogeneity in Silver–Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement. Issue 10 (5th July 2021) Authors: Brereton, Rebecca E.; Nickerson, Sarah L.; Woodward, Karen J.; Edwards, Tracey; Sivamoorthy, Soruba; Ramos Vasques Walters, Fabiana; Chabros, Vicki; Marchin, Vanessa; Grumball, Tanya; Kennedy, Dagmara; Uzaraga, Joan; Peverall, Joanne; Arscott, Gillian; Beilby, John; Choong, Catherine S.; Townshen... Journal: American journal of medical genetics Issue: Volume 185:Issue 10(2021) Page Start: 3136 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗