1. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. Issue 11 (8th September 2016) Authors: Goldenberg, Alice; Riccardi, Florence; Tessier, Aude; Pfundt, Rolph; Busa, Tiffany; Cacciagli, Pierre; Capri, Yline; Coutton, Charles; Delahaye‐Duriez, Andree; Frebourg, Thierry; Gatinois, Vincent; Guerrot, Anne‐Marie; Genevieve, David; Lecoquierre, Francois; Jacquette, Aurélia; Khau Van Kien, Ph... Journal: American journal of medical genetics Issue: Volume 170:Issue 11(2016) Page Start: 2847 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. 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) ↗
4. Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials. Issue 5 (20th January 2021) Authors: Garde, Aurore; Guibaud, Laurent; Goldenberg, Alice; Petit, Florence; Dard, Rodolphe; Roume, Joelle; Mazereeuw‐Hautier, Juliette; Chassaing, Nicolas; Lacombe, Didier; Morice‐Picard, Fanny; Toutain, Annick; Arpin, Stéphanie; Boccara, Olivia; Touraine, Renaud; Blanchet, Patricia; Coubes, Christine; ... Journal: Clinical genetics Issue: Volume 99:Issue 5(2021) Page Start: 650 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations. Issue 3 (15th December 2020) Authors: Garde, Aurore; Cornaton, Jenny; Sorlin, Arthur; Moutton, Sébastien; Nicolas, Claire; Juif, Christine; Geneviève, David; Perrin, Laurence; Khau‐Van‐Kien, Philippe; Smol, Thomas; Vincent‐Delorme, Catherine; Isidor, Bertrand; Cogné, Benjamin; Afenjar, Alexandra; Keren, Boris; Coubes, Christine; Prie... Journal: Clinical genetics Issue: Volume 99:Issue 3(2021) Page Start: 407 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study. Issue 2 (25th April 2022) Authors: Jouret, Guillaume; Heide, Solveig; Sorlin, Arthur; Faivre, Laurence; Chantot‐Bastaraud, Sandra; Beneteau, Claire; Denis‐Musquer, Marie; Turnpenny, Peter D.; Coutton, Charles; Vieville, Gaëlle; Thevenon, Julien; Larson, Austin; Petit, Florence; Boudry, Elise; Smol, Thomas; Delobel, Bruno; Duban‐Be... Journal: Clinical genetics Issue: Volume 102:Issue 2(2022) Page Start: 117 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗
10. NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients. (2nd June 2020) Authors: Bertacchi, Michele; Romano, Anna Lisa; Loubat, Agnès; Tran Mau‐Them, Frederic; Willems, Marjolaine; Faivre, Laurence; Khau van Kien, Philippe; Perrin, Laurence; Devillard, Françoise; Sorlin, Arthur; Kuentz, Paul; Philippe, Christophe; Garde, Aurore; Neri, Francesco; Di Giaimo, Rossella; Oliviero,... Journal: EMBO journal Issue: Volume 39:Number 13(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗