1. Assessment of Multiplex Digital Droplet RT-PCR as a Diagnostic Tool for SARS-CoV-2 Detection in Nasopharyngeal Swabs and Saliva Samples. (2nd January 2021) Authors: Cassinari, Kévin; Alessandri-Gradt, Elodie; Chambon, Pascal; Charbonnier, Françoise; Gracias, Ségolène; Beaussire, Ludivine; Alexandre, Kevin; Sarafan-Vasseur, Nasrin; Houdayer, Claude; Etienne, Manuel; Caron, François; Plantier, Jean Christophe; Frebourg, Thierry Journal: Clinical chemistry Issue: Volume 67:Number 5(2021) Page Start: 736 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Bilateral retinoblastoma due to a germline mutation of RB1 in a child with down syndrome. (2nd January 2019) Authors: Le Grignou, Marie; Bleriot, Alice; Nizon, Mathilde; Pacquement, Hélène; Houdayer, Claude; Thebaud, Estelle; Le Meur, Guylène; Isidor, Bertrand Journal: Ophthalmic genetics Issue: Volume 40:Number 1(2019) Page Start: 86 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. BRCA Share: A Collection of Clinical BRCA Gene Variants. Issue 12 (28th September 2016) Authors: Béroud, Christophe; Letovsky, Stanley I.; Braastad, Corey D.; Caputo, Sandrine M.; Beaudoux, Olivia; Bignon, Yves Jean; Bressac‐De Paillerets, Brigitte; Bronner, Myriam; Buell, Crystal M.; Collod‐Béroud, Gwenaëlle; Coulet, Florence; Derive, Nicolas; Divincenzo, Christina; Elzinga, Christopher D.;... Journal: Human mutation Issue: Volume 37:Issue 12(2016) Page Start: 1318 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome. (28th September 2022) Authors: Hendricks, Linda A J; Hoogerbrugge, Nicoline; Mensenkamp, Arjen R; Brunet, Joan; Lleuger-Pujol, Roser; Høberg-Vetti, Hildegunn; Tveit Haavind, Marianne; Innella, Giovanni; Turchetti, Daniela; Aretz, Stefan; Spier, Isabel; Tischkowitz, Marc; Jahn, Arne; Links, Thera P; Olderode-Berends, Maran J W;... Journal: Journal of the National Cancer Institute Issue: Volume 115:Number 1(2023) Page Start: 93 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing. (1st February 2014) Authors: Whiley, Phillip J; de la Hoya, Miguel; Thomassen, Mads; Becker, Alexandra; Brandão, Rita; Pedersen, Inge Sokilde; Montagna, Marco; Menéndez, Mireia; Quiles, Francisco; Gutiérrez-Enríquez, Sara; De Leeneer, Kim; Tenés, Anna; Montalban, Gemma; Tserpelis, Demis; Yoshimatsu, Toshio; Tirapo, Carole; R... Journal: Clinical chemistry Issue: Volume 60:Number 2(2014) Page Start: 341 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers. (December 2017) Authors: Golmard, Lisa; Castéra, Laurent; Krieger, Sophie; Moncoutier, Virginie; Abidallah, Khadija; Tenreiro, Henrique; Laugé, Anthony; Tarabeux, Julien; Millot, Gael; Nicolas, André; Laé, Marick; Abadie, Caroline; Berthet, Pascaline; Polycarpe, Florence; Frébourg, Thierry; Elan, Camille; Pauw, Antoine; ... Journal: European journal of human genetics Issue: Volume 25:Number 12(2017) Page Start: 1345 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. EPID-04. PREDCAP, the French registry of predisposition to pediatric cancers. (3rd June 2022) Authors: Guerrini-Rousseau, Lea; Hoarau, Pauline; Bougeard, Gaelle; Golmard, Lisa; Colas, Chrystelle; Gauthier-Villars, Marion; Houdayer, Claude; Frebourg, Thierry; Bourdeaut, Franck; Brugieres, Laurence Journal: Neuro-oncology Issue: Volume 24(2022)Supplement 1 Page Start: i47 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Evaluation of a 5‐Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter‐Reviewer Variability and Promotion of Minimum Reporting Guidelines. Issue 10 (13th August 2013) Authors: Walker, Logan C.; Whiley, Phillip J.; Houdayer, Claude; Hansen, Thomas V. O.; Vega, Ana; Santamarina, Marta; Blanco, Ana; Fachal, Laura; Southey, Melissa C.; Lafferty, Alan; Colombo, Mara; De Vecchi, Giovanna; Radice, Paolo; Spurdle, Amanda B. Journal: Human mutation Issue: Volume 34:Issue 10(2013:Oct.) Page Start: 1424 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease. Issue 5 (14th March 2016) Authors: Smith, Thomas; Ho, Gladys; Christodoulou, John; Price, Elizabeth Ann; Onadim, Zerrin; Gauthier‐Villars, Marion; Dehainault, Catherine; Houdayer, Claude; Parfait, Beatrice; van Minkelen, Rick; Lohman, Dietmar; Eyre‐Walker, Adam Journal: Human mutation Issue: Volume 37:Issue 5(2016) Page Start: 488 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts. Issue 10 (24th June 2019) Authors: Lin, Jin‐Huan; Tang, Xin‐Ying; Boulling, Arnaud; Zou, Wen‐Bin; Masson, Emmanuelle; Fichou, Yann; Raud, Loann; Le Tertre, Marlène; Deng, Shun‐Jiang; Berlivet, Isabelle; Ka, Chandran; Mort, Matthew; Hayden, Matthew; Leman, Raphaël; Houdayer, Claude; Le Gac, Gerald; Cooper, David N.; Li, Zhao‐Shen; ... Journal: Human mutation Issue: Volume 40:Issue 10(2019) Page Start: 1856 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗