1. Points to consider for laboratories reporting results from diagnostic genomic sequencing. (January 2018) Authors: Vears, D.; Sénécal, K.; Clarke, A.; Jackson, L.; Laberge, A.; Lovrecic, L.; Piton, A.; Gassen, K.; Yntema, H.; Knoppers, B.; Borry, P. Journal: European journal of human genetics Issue: Volume 26:Number 1(2018) Page Start: 36 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome. Issue 6 (8th April 2016) Authors: Schönewolf‐Greulich, B.; Tejada, M.‐I.; Stephens, K.; Hadzsiev, K.; Gauthier, J.; Brøndum‐Nielsen, K.; Pfundt, R.; Ravn, K.; Maortua, H.; Gener, B.; Martínez‐Bouzas, C.; Piton, A.; Rouleau, G.; Clayton‐Smith, J.; Kleefstra, T.; Bisgaard, A.‐M.; Tümer, Z. Journal: Clinical genetics Issue: Volume 89:Issue 6(2016) Page Start: 733 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases. Issue 1 (17th May 2018) Authors: Baer, S.; Afenjar, A.; Smol, T.; Piton, A.; Gérard, B.; Alembik, Y.; Bienvenu, T.; Boursier, G.; Boute, O.; Colson, C.; Cordier, M.‐P.; Cormier‐Daire, V.; Delobel, B.; Doco‐Fenzy, M.; Duban‐Bedu, B.; Fradin, M.; Geneviève, D.; Goldenberg, A.; Grelet, M.; Haye, D. Journal: Clinical genetics Issue: Volume 94:Issue 1(2018) Page Start: 141 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗