1. An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers. Issue 1 (December 2015) Authors: Blein, Sophie; Bardel, Claire; Danjean, Vincent; McGuffog, Lesley; Healey, Sue; Barrowdale, Daniel; Lee, Andrew; Dennis, Joe; Kuchenbaecker, Karoline; Soucy, Penny; Terry, Mary; Chung, Wendy; Goldgar, David; Buys, Saundra; Janavicius, Ramunas; Tihomirova, Laima; Tung, Nadine; Dorfling, Cecilia; v... Journal: Breast cancer research Issue: Volume 17:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Centralization errors in comparative genomic hybridization array analysis of pituitary tumor samples. Issue 6 (9th March 2018) Authors: Lasolle, Hélène; Alix, Eudeline; Bonnefille, Clément; Elsensohn, Mad‐Hélénie; Michel, Jessica; Sanlaville, Damien; Roy, Pascal; Raverot, Gérald; Bardel, Claire Journal: Genes, chromosomes & cancer Issue: Volume 57:Issue 6(2018) Page Start: 320 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Comment on "Trisomy 21 noninvasive prenatal testing for twin pregnancies". (20th May 2019) Authors: Chatron, Nicolas; Raymond, Laure; Schluth‐Bolard, Caroline; Bardel, Claire; Huissoud, Cyril; Nouchy, Marc; Sanlaville, Damien; Massoud, Mona Journal: Prenatal diagnosis Issue: Volume 39:Number 7(2019) Page Start: 571 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Comparison of crossover and parallel‐group designs for the identification of a binary predictive biomarker of the treatment effect. Issue 1 (28th August 2019) Authors: Grenet, Guillaume; Blanc, Corentin; Bardel, Claire; Gueyffier, François; Roy, Pascal Journal: Basic & clinical pharmacology & toxicology Issue: Volume 126:Issue 1(2020) Page Start: 59 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A. Issue 1 (4th September 2021) Authors: Jourdy, Yohann; Bardel, Claire; Fretigny, Mathilde; Diguet, Flavie; Rollat‐Farnier, Pierre‐Antoine; Mathieu, Marie‐Laure; Labalme, Audrey; Sanlaville, Damien; Edery, Patrick; Vinciguerra, Christine; Schluth‐Bolard, Caroline Journal: Haemophilia Issue: Volume 28:Issue 1(2022) Page Start: 117 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts. (February 2020) Authors: Belot, Alexandre; Rice, Gillian I; Omarjee, Sulliman Ommar; Rouchon, Quentin; Smith, Eve M D; Moreews, Marion; Tusseau, Maud; Frachette, Cécile; Bournhonesque, Raphael; Thielens, Nicole; Gaboriaud, Christine; Rouvet, Isabelle; Chopin, Emilie; Hoshino, Akihiro; Latour, Sylvain; Ranchin, Bruno; Cim... Journal: Lancet Issue: Volume 2:Number 2(2020) Page Start: e99 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. CSF IgA NMDAR antibodies are potential biomarkers for teratomas in anti-NMDAR encephalitis. Issue 6 (December 2015) Authors: Desestret, Virginie; Chefdeville, Aude; Viaccoz, Aurélien; Bost, Chloe; Ducray, François; Picard, Géraldine; Rogemond, Veronique; Chaffois, Marie-Oceane; Blanc, Charlotte; Bardel, Claire; Treilleux, Isabelle; Pascual, Olivier; Antoine, Jean-Christophe; Delattre, Jean-Yves; Honnorat, Jerome Journal: Neurology Issue: Volume 2:Issue 6(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Development of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia. Issue 6 (4th September 2020) Authors: Marmontel, Oriane; Rollat‐Farnier, Pierre Antoine; Wozny, Anne‐Sophie; Charrière, Sybil; Vanhoye, Xavier; Simonet, Thomas; Chatron, Nicolas; Collin‐Chavagnac, Delphine; Nony, Séverine; Dumont, Sabrina; Mahl, Muriel; Jacobs, Chantal; Janin, Alexandre; Caussy, Cyrielle; Poinsot, Pierre; Tauveron, I... Journal: Clinical genetics Issue: Volume 98:Issue 6(2020) Page Start: 589 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Exome sequencing and pathogenicity-network analysis of five French families implicate mTOR signalling and autophagy in familial sarcoidosis. Issue 2 (1st August 2019) Authors: Calender, Alain; Lim, Clarice X.; Weichhart, Thomas; Buisson, Adrien; Besnard, Valérie; Rollat-Farnier, Pierre Antoine; Bardel, Claire; Roy, Pascal; Cottin, Vincent; Devouassoux, Gilles; Finat, Amélie; Pinson, Stéphane; Lebecque, Serge; Nunes, Hilario; Israel-Biet, Dominique; Bentaher, Abderazzaq... Journal: European respiratory journal Issue: Volume 54:Issue 2(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination. Issue 4 (19th January 2023) Authors: Masson, Julie; Pebrel‐Richard, Céline; Egloff, Matthieu; Frétigny, Mathilde; Beaumont, Marion; Uguen, Kevin; Rollat‐Farnier, Pierre‐Antoine; Diguet, Flavie; Perthus, Isabelle; Le Gudayer, Gwenaël; Haye, Damien; Dupeyron, Marie‐Noëlle Bonnet; Putoux, Audrey; Raskin‐Champion, Fabienne; Till, Marian... Journal: Clinical genetics Issue: Volume 103:Issue 4(2023) Page Start: 401 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗