1. 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) ↗
2. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation. Issue 11 (21st August 2015) Authors: Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary‐Alice; Atkin, Joan; Babovic‐Vuksanovic, Dusica; Barnett, Christopher P.; Crenshaw, Melissa; Bartholomew, Dennis W.; Basel, Lina; Bellus, Gary; Ben‐Shachar, Shay; Bi... Journal: Human mutation Issue: Volume 36:Issue 11(2015:Nov.) Page Start: 1052 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?. Issue 10 (4th February 2022) Authors: Garcia, Belen; Catasus, Nuria; Ros, Andrea; Rosas, Inma; Negro, Alejandro; Guerrero-Murillo, Mercedes; Valero, Ana Maria; Duat-Rodriguez, Anna; Becerra, Juan Luis; Bonache, Sandra; Lázaro Garcia, Conxi; Comas, Carmina; Bielsa, Isabel; Serra, Eduard; Hernández-Chico, Concepción; Martin, Yolanda; C... Journal: Journal of medical genetics Issue: Volume 59:Issue 10(2022) Page Start: 1017 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗