11. First prenatal PI3K-AKT-mTOR pathway related overgrowth spectrum cohort: Phenotypic and molecular characterization. (March 2019) Authors: Bourgon, Nicolas; Kuentz, Paul; Carmignac, Virginie; Sorlin, Arthur; Duffourd, Yannis; Chevarin, Martin; Jouan, Thibaud; Thauvin, Christel; Vabres, Pierre; Olivier-Faivre, Laurence Journal: European journal of obstetrics, gynecology, and reproductive biology Issue: Volume 234(2019) Page Start: e169 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations. Issue 11 (23rd September 2018) Authors: Assoum, Mirna; Lines, Matthew A.; Elpeleg, Orly; Darmency, Véronique; Whiting, Sharon; Edvardson, Simon; Devinsky, Orrin; Heinzen, Erin; Hernan, Rebecca Rose; Antignac, Corinne; Deleuze, Jean‐François; Des Portes, Vincent; Bertholet‐Thomas, Aurélie; Belot, Alexandre; Geller, Eric; Lemesle, Martin... Journal: American journal of medical genetics Issue: Volume 176:Issue 11(2018) Page Start: 2470 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
13. Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature. Issue 1 (29th May 2020) Authors: Carmignac, Virginie; Nambot, Sophie; Lehalle, Daphné; Callier, Patrick; Moortgat, Stephanie; Benoit, Valérie; Ghoumid, Jamal; Delobel, Bruno; Smol, Thomas; Thuillier, Caroline; Zordan, Cécile; Naudion, Sophie; Bienvenu, Thierry; Touraine, Renaud; Ramond, Francis; Zweier, Christiane; Reis, André; ... Journal: Clinical genetics Issue: Volume 98:Issue 1(2020) Page Start: 43 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization. Issue 3 (27th January 2020) Authors: Uguen, Kévin; Jubin, Claire; Duffourd, Yannis; Bardel, Claire; Malan, Valérie; Dupont, Jean‐Michel; El Khattabi, Laila; Chatron, Nicolas; Vitobello, Antonio; Rollat‐Farnier, Pierre‐Antoine; Baulard, Céline; Lelorch, Marc; Leduc, Aurélie; Tisserant, Emilie; Tran Mau‐Them, Frédéric; Danjean, Vincen... Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 3(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations. Issue 6 (30th July 2020) Authors: Lefebvre, Mathilde; Bruel, Ange-Line; Tisserant, Emilie; Bourgon, Nicolas; Duffourd, Yannis; Collardeau-Frachon, Sophie; Attie-Bitach, Tania; Kuentz, Paul; assoum, Mirna; Schaefer, Elise; El Chehadeh, Salima; Antal, Maria Cristina; Kremer, Valérie; Girard-Lemaitre, Françoise; Mandel, Jean-Louis; ... Journal: Journal of medical genetics Issue: Volume 58:Issue 6(2021) Page Start: 400 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics. Issue 5 (5th March 2021) Authors: Thomas, Quentin; Vitobello, Antonio; Tran Mau-Them, Frederic; Duffourd, Yannis; Fromont, Agnès; Giroud, Maurice; Daubail, Benoit; Jacquin-Piques, Agnès; Hervieu-Begue, Marie; Moreau, Thibault; Osseby, Guy-Victor; Garret, Philippine; Nambot, Sophie; Delanne, Julian; Bruel, Ange-Line; Sorlin, Arthu... Journal: Journal of medical genetics Issue: Volume 59:Issue 5(2022) Page Start: 445 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb‐girdle muscular dystrophy‐18. Issue 5 (25th August 2021) Authors: Hadouiri, Nawale; Thomas, Quentin; Darmency, Véronique; Dulieu, Véronique; De Rougemont, Marie‐Gabrielle Mourot; Bruel, Ange‐Line; Duffourd, Yannis; Lecoquierre, François; Colomb, Benoit; Perez‐Martin, Stéphanie; Ornetti, Paul; Blanchard, Olivier; Sorlin, Arthur; Philippe, Christophe; Faivre, Lau... Journal: Clinical genetics Issue: Volume 100:Issue 5(2021) Page Start: 643 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
18. Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases. Issue 12 (30th October 2021) Authors: Tran Mau‐Them, Frederic; Duffourd, Yannis; Vitobello, Antonio; Bruel, Ange‐Line; Denommé‐Pichon, Anne‐Sophie; Nambot, Sophie; Delanne, Julian; Moutton, Sebastien; Sorlin, Arthur; Couturier, Victor; Bourgeois, Valentin; Chevarin, Martin; Poe, Charlotte; Mosca‐Boidron, Anne‐Laure; Callier, Patrick;... Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 12(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
19. Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features. (2nd December 2016) Authors: Miguet, Marguerite; Thevenon, Julien; Laugel, Vincent; Lefebvre, Mathilde; Bourchany, Aurélie; Rivière, Jean‐Baptiste; Duffourd, Yannis; Schaefer, Elise; Antal, Maria Cristina; Abida, Rosalie; Weingertner, Anne‐Sophie; Kremer, Valérie; Vabres, Pierre; Morice‐Picard, Fanny; Gonzales, Marie; Lipske... Journal: Prenatal diagnosis Issue: Volume 36:Number 13(2016) Page Start: 1276 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
20. Next‐generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability. Issue 5 (31st May 2020) Authors: Bruel, Ange‐Line; Vitobello, Antonio; Tran Mau‐Them, Frédéric; Nambot, Sophie; Sorlin, Arthur; Denommé‐Pichon, Anne‐Sophie; Delanne, Julian; Moutton, Sébastien; Callier, Patrick; Duffourd, Yannis; Philippe, Christophe; Faivre, Laurence; Thauvin‐Robinet, Christel Journal: Clinical genetics Issue: Volume 98:Issue 5(2020) Page Start: 433 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗