1. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. Issue 12 (December 2015) Authors: Mirzaa, Ghayda M; Conti, Valerio; Timms, Andrew E; Smyser, Christopher D; Ahmed, Sarah; Carter, Melissa; Barnett, Sarah; Hufnagel, Robert B; Goldstein, Amy; Narumi-Kishimoto, Yoko; Olds, Carissa; Collins, Sarah; Johnston, Kathreen; Deleuze, Jean-François; Nitschké, Patrick; Friend, Kathryn; Harri... Journal: Lancet neurology Issue: Volume 14:Issue 12(2015:Dec.) Page Start: 1182 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Issue 1 (26th October 2019) Authors: Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic‐Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Cl... Journal: Human mutation Issue: Volume 41:Issue 1(2020) Page Start: 299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Evaluation and classification of severity for 176 genes on an expanded carrier screening panel. (16th June 2020) Authors: Arjunan, Aishwarya; Bellerose, Holly; Torres, Raul; Ben‐Shachar, Rotem; Hoffman, Jodi D.; Angle, Brad; Slotnick, Robert Nathan; Simpson, Brittany N.; Lewis, Andrea M.; Magoulas, Pilar L.; Bontempo, Kelly; Schulze, Jeanine; Tarpinian, Jennifer; Bucher, Jessica A.; Dineen, Richard; Goetsch, Allison... Journal: Prenatal diagnosis Issue: Volume 40:Number 10(2020) Page Start: 1246 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗