1. Application of whole‐exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability. Issue 1 (12th September 2016) Authors: Gauthier‐Vasserot, Alexandra; Thauvin‐Robinet, Christel; Bruel, Ange‐Line; Duffourd, Yannis; St‐Onge, Judith; Jouan, Thibaud; Rivière, Jean‐Baptiste; Heron, Delphine; Donadieu, Jean; Bellanné‐Chantelot, Christine; Briandet, Claire; Huet, Frédéric; Kuentz, Paul; Lehalle, Daphné; Duplomb‐Jego, Laur... Journal: American journal of medical genetics Issue: Volume 173:Issue 1(2017) Page Start: 62 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations. (8th September 2015) Authors: Courcet, Jean‐Benoît; Minello, Anne; Prieur, Fabienne; Morisse, Laurent; Phelip, Jean‐Marc; Beurdeley, Alain; Meynard, Daniel; Massenet, Denis; Lacassin, Flore; Duffourd, Yannis; Gigot, Nadège; St‐Onge, Judith; Hillon, Patrick; Vanlemmens, Claire; Mousson, Christiane; Cerceuil, Jean‐Pierre; Guiu,... Journal: American journal of medical genetics Issue: Volume 167:Number 12(2015:Dec.) Page Start: 3046 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. De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features. Issue 12 (14th May 2020) Authors: Lehalle, Daphné; Vabres, Pierre; Sorlin, Arthur; Bierhals, Tatjana; Avila, Magali; Carmignac, Virginie; Chevarin, Martin; Torti, Erin; Abe, Yuichi; Bartolomaeus, Tobias; Clayton-Smith, Jill; Cogné, Benjamin; Cusco, Ivon; Duplomb, Laurence; De Bont, Eveline; Duffourd, Yannis; Duijkers, Floor; Elpe... Journal: Journal of medical genetics Issue: Volume 57:Issue 12(2020) Page Start: 808 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency. Issue 8 (4th May 2016) Authors: Saunier, Chloé; Støve, Svein Isungset; Popp, Bernt; Gérard, Bénédicte; Blenski, Marina; AhMew, Nicholas; de Bie, Charlotte; Goldenberg, Paula; Isidor, Bertrand; Keren, Boris; Leheup, Bruno; Lampert, Laetitia; Mignot, Cyril; Tezcan, Kamer; Mancini, Grazia M.S.; Nava, Caroline; Wasserstein, Melissa... Journal: Human mutation Issue: Volume 37:Issue 8(2016) Page Start: 755 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis. Issue 11 (23rd September 2018) Authors: Lefebvre, Mathilde; Beaufrere, Anne‐Marie; Francannet, Christine; Laurichesse, Helene; Poe, Charlotte; Jouan, Thibaud; Troude, Baptiste; Dechelotte, Pierre; Vabres, Pierre; Biard, Marie; Mosca‐Boidron, Anne‐Laure; Duffourd, Yannis; Faivre, Laurence; Thevenon, Julien; Thauvin‐Robinet, Christel Journal: American journal of medical genetics Issue: Volume 176:Issue 11(2018) Page Start: 2509 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis. Issue 11 (23rd September 2018) Authors: Lefebvre, Mathilde; Beaufrere, Anne‐Marie; Francannet, Christine; Laurichesse, Helene; Poe, Charlotte; Jouan, Thibaud; Troude, Baptiste; Dechelotte, Pierre; Vabres, Pierre; Briard, Marie; Mosca‐Boidron, Anne‐Laure; Duffourd, Yannis; Faivre, Laurence; Thevenon, Julien; Thauvin‐Robinet, Christel Journal: American journal of medical genetics Issue: Volume 176:Issue 11(2018) Page Start: 2509 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes. Issue 6 (13th March 2017) Authors: Bruel, Ange-Line; Franco, Brunella; Duffourd, Yannis; Thevenon, Julien; Jego, Laurence; Lopez, Estelle; Deleuze, Jean-François; Doummar, Diane; Giles, Rachel H; Johnson, Colin A; Huynen, Martijn A; Chevrier, Véronique; Burglen, Lydie; Morleo, Manuela; Desguerres, Isabelle; Pierquin, Geneviève; Do... Journal: Journal of medical genetics Issue: Volume 54:Issue 6(2017) Page Start: 371 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗