1. A novel homozygous KCNQ3 loss‐of‐function variant causes non‐syndromic intellectual disability and neonatal‐onset pharmacodependent epilepsy. Issue 3 (11th August 2019) Authors: Lauritano, Anna; Moutton, Sebastien; Longobardi, Elena; Tran Mau‐Them, Frédéric; Laudati, Giusy; Nappi, Piera; Soldovieri, Maria Virginia; Ambrosino, Paolo; Cataldi, Mauro; Jouan, Thibaud; Lehalle, Daphné; Maurey, Hélène; Philippe, Christophe; Miceli, Francesco; Vitobello, Antonio; Taglialatela, ... Journal: Epilepsia open Issue: Volume 4:Issue 3(2019) Page Start: 464 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Autism and developmental disability caused by KCNQ3 gain‐of‐function variants. Issue 2 (26th June 2019) Authors: Sands, Tristan T.; Miceli, Francesco; Lesca, Gaetan; Beck, Anita E.; Sadleir, Lynette G.; Arrington, Daniel K.; Schönewolf‐Greulich, Bitten; Moutton, Sébastien; Lauritano, Anna; Nappi, Piera; Soldovieri, Maria Virginia; Scheffer, Ingrid E.; Mefford, Heather C.; Stong, Nicholas; Heinzen, Erin L.; ... Journal: Annals of neurology Issue: Volume 86:Issue 2(2019) Page Start: 181 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes. Issue 1 (22nd January 2020) Authors: Delplancq, Geoffroy; Tarris, Georges; Vitobello, Antonio; Nambot, Sophie; Sorlin, Arthur; Philippe, Christophe; Carmignac, Virginie; Duffourd, Yannis; Denis, Charlotte; Eicher, Jean Christophe; Chevarin, Martin; Millat, Gilles; Khallouk, Bouchra; Rousseau, Thierry; Falcon‐Eicher, Sylvie; Vasiljev... Other Names: Kruszka Paul guestEditor.; Beaton Andrea guestEditor. Journal: American journal of medical genetics Issue: Volume 184:Issue 1(2020) Page Start: 129 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array‐CGH. (9th February 2022) Authors: Tisserant, Emilie; Vitobello, Antonio; Callegarin, Davide; Verdez, Simon; Bruel, Ange‐line; Aho Glele, Ludwig Serge; Sorlin, Arthur; Viora‐Dupont, Eleonore; Konyukh, Marina; Marle, Nathalie; Nambot, Sophie; Moutton, Sébastien; Racine, Caroline; Garde, Aurore; Delanne, Julian; Tran‐Mau‐Them, Frédé... Journal: Annals of human genetics Issue: Volume 86:Number 4(2022) Page Start: 171 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. Issue 7 (10th April 2020) Authors: Chevarin, Martin; Duffourd, Yannis; A. Barnard, Rebecca; Moutton, Sébastien; Lecoquierre, François; Daoud, Fatma; Kuentz, Paul; Cabret, Caroline; Thevenon, Julien; Gautier, Elodie; Callier, Patrick; St-Onge, Judith; Jouan, Thibaud; Lacombe, Didier; Delrue, Marie Ange; Goizet, Cyril; Morice-Picard... Journal: Journal of medical genetics Issue: Volume 57:Issue 7(2020) Page Start: 466 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expanding the phenotype of HNRNPU‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature. Issue 5 (9th February 2022) Authors: Taylor, James; Spiller, Michael; Ranguin, Kara; Vitobello, Antonio; Philippe, Christophe; Bruel, Ange‐Line; Cappuccio, Gerarda; Brunetti‐Pierri, Nicola; Willems, Marjolaine; Isidor, Bertrand; Park, Kristen; Balasubramanian, Meena Journal: American journal of medical genetics Issue: Volume 188:Issue 5(2022) Page Start: 1497 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders. Issue 11 (21st August 2022) Authors: Levy, Michael A.; Relator, Raissa; McConkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat‐Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Palomares Bralo, María; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; ... Other Names: Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor. Journal: Human mutation Issue: Volume 43:Issue 11(2022) Page Start: 1609 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. 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) ↗
10. 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) ↗