1. 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations. Issue 5 (4th October 2018) Authors: Allach El Khattabi, Laïla; Heide, Solveig; Caberg, Jean-Hubert; Andrieux, Joris; Doco Fenzy, Martine; Vincent-Delorme, Caroline; Callier, Patrick; Chantot-Bastaraud, Sandra; Afenjar, Alexandra; Boute-Benejean, Odile; Cordier, Marie Pierre; Faivre, Laurence; Francannet, Christine; Gerard, Marion; ... Journal: Journal of medical genetics Issue: Volume 57:Issue 5(2020) Page Start: 301 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients. Issue 2 (11th November 2022) Authors: Jacquin, Clémence; Landais, Emilie; Poirsier, Céline; Afenjar, Alexandra; Akhavi, Ahmad; Bednarek, Nathalie; Bénech, Caroline; Bonnard, Adeline; Bosquet, Damien; Burglen, Lydie; Callier, Patrick; Chantot‐Bastaraud, Sandra; Coubes, Christine; Coutton, Charles; Delobel, Bruno; Descharmes, Margaux; ... Journal: American journal of medical genetics Issue: Volume 191:Issue 2(2023) Page Start: 445 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains. Issue 7 (6th April 2016) Authors: Masset, Heleen; Hestand, Matthew S.; Van Esch, Hilde; Kleinfinger, Pascale; Plaisancié, Julie; Afenjar, Alexandra; Molignier, Romain; Schluth‐Bolard, Caroline; Sanlaville, Damien; Vermeesch, Joris R. Journal: Human mutation Issue: Volume 37:Issue 7(2016) Page Start: 661 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. Issue 3 (4th January 2021) Authors: Dentici, Maria Lisa; Alesi, Viola; Quinodoz, Mathieu; Robens, Barbara; Guerin, Andrea; Lebon, Sébastien; Poduri, Annapurna; Travaglini, Lorena; Graziola, Federica; Afenjar, Alexandra; Keren, Boris; Licursi, Valerio; Capuano, Alessandro; Dallapiccola, Bruno; Superti-Furga, Andrea; Novelli, Antonio Journal: Journal of medical genetics Issue: Volume 59:Issue 3(2022) Page Start: 262 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects. Issue 6 (3rd February 2020) Authors: Nasser, Hala; Vera, Liza; Elmaleh-Bergès, Monique; Steindl, Katharina; Letard, Pascaline; Teissier, Natacha; Ernault, Anais; Guimiot, Fabien; Afenjar, Alexandra; Moutard, Marie Laure; Héron, Delphine; Alembik, Yves; Momtchilova, Martha; Milani, Paolo; Kubis, Nathalie; Pouvreau, Nathalie; Zollino,... Journal: Journal of medical genetics Issue: Volume 57:Issue 6(2020) Page Start: 389 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Issue 1 (December 2018) Authors: Snijders Blok, Lot; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance; Nowak, Catherine; Douglas, Jessica; Swoboda, Kathryn; Steeves, Marcie; Sahai, Inderneel; Stumpel, Connie; Stegmann, Alexander; Wheeler, Patricia; Willing, Marcia; Fiala, Elise;... Journal: Nature communications Issue: Volume 9:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect. Issue 2 (28th September 2020) Authors: Bérat, Claire‐Marine; Montealegre, Sebastian; Wiedemann, Arnaud; Nuzum, Malou Le Corronc; Blondel, Amélie; Debruge, Hugo; Cano, Aline; Chabrol, Brigitte; Hoebeke, Célia; Polak, Michel; Stoupa, Athanasia; Feillet, François; Torre, Stéphanie; Boddaert, Nathalie; Bruel, Henri; Barth, Magalie; Damaj,... Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 2(2021) Page Start: 415 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions. Issue 8 (9th June 2017) Authors: Mathieu, Marie‐Laure; Demily, Caroline; Chantot‐Bastaraud, Sandra; Afenjar, Alexandra; Mignot, Cyril; Andrieux, Joris; Gerard, Marion; Catala‐Mora, Jaume; Jouk, Pierre Simon; Labalme, Audrey; Edery, Patrick; Sanlaville, Damien; Rossi, Massimiliano Journal: American journal of medical genetics Issue: Volume 173:Issue 8(2017) Page Start: 2268 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Clinical and molecular delineation of PUS3‐associated neurodevelopmental disorders. Issue 5 (31st August 2021) Authors: Nøstvik, Miriam; Kateta, Sarah M.; Schönewolf‐Greulich, Bitten; Afenjar, Alexandra; Barth, Magalie; Boschann, Felix; Doummar, Diane; Haack, Tobias B.; Keren, Boris; Livshits, Ludmila A.; Mei, Davide; Park, Joohyun; Pisano, Tiziana; Prouteau, Clement; Umair, Muhammad; Waqas, Ahmed; Ziegler, Alban;... Journal: Clinical genetics Issue: Volume 100:Issue 5(2021) Page Start: 628 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Clinical study of 19 patients with SCN8A‐related epilepsy: Two modes of onset regarding EEG and seizures. (26th April 2019) Authors: Denis, Julien; Villeneuve, Nathalie; Cacciagli, Pierre; Mignon‐Ravix, Cecile; Lacoste, Caroline; Lefranc, Jeremie; Napuri, Sylvia; Damaj, Lena; Villega, Frederic; Pedespan, Jean‐Michel; Moutton, Sebastien; Mignot, Cyril; Doummar, Diane; Lion‐François, Laurence; Gataullina, Svetlana; Dulac, Olivie... Journal: Epilepsia Issue: Volume 60:issue 5(2019) Page Start: 845 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗