1. Association of periventricular nodular heterotopia with posterior fossa cyst: a prenatal case series. (5th January 2015) Authors: Teixeira, Sara R.; Blondiaux, Eléonore; Cassart, Marie; Couture, Alain; Moutard, Marie‐Laure; Whalen, Sandra; Gelot, Antoinette; Ducou le Pointe, Hubert; Garel, Catherine; GRRIF (Groupe de Recherche Radiopédiatrique en Imagerie Fœtale)‐SFIPP (Société Francophone d'Imagerie Pédiatrique et Prénatale) Journal: Prenatal diagnosis Issue: Volume 35:Number 4(2015:Apr.) Page Start: 337 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Congenital immobility and stiffness related to biallelic ATAD1 variants. (December 2020) Authors: Bunod, Roxane; Doummar, Diane; Whalen, Sandra; Keren, Boris; Chantot-Bastaraud, Sandra; Maincent, Kim; Villy, Marie-Charlotte; Mayer, Michèle; Rodriguez, Diana; Burglen, Lydie; Léger, Pierre-Louis; Kieffer, François; Martin, Isabelle; Héron, Delphine; Buratti, Julien; Isapof, Arnaud; Afenjar, Ale... Journal: Neurology Issue: Volume 6:Number 6(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders. Issue 7 (28th July 2021) Authors: Acharya, Anushree; Kavus, Haluk; Dunn, Patrick; Nasir, Abdul; Folk, Leandra; Withrow, Kara; Wentzensen, Ingrid M.; Ruzhnikov, Maura R. Z.; Fallot, Camille; Smol, Thomas; Rama, Mélanie; Brown, Kathleen; Whalen, Sandra; Ziegler, Alban; Barth, Magali; Chassevent, Anna; Smith-Hicks, Constance; Afenja... Journal: Journal of medical genetics Issue: Volume 59:Issue 7(2022) Page Start: 669 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement. Issue 4 (18th February 2019) Authors: Zollino, Marcella; Zweier, Christiane; Van Balkom, Ingrid D.; Sweetser, David A.; Alaimo, Joseph; Bijlsma, Emilia K.; Cody, Jannine; Elsea, Sarah H.; Giurgea, Irina; Macchiaiolo, Marina; Smigiel, Robert; Thibert, Ronald L.; Benoist, Ingrid; Clayton‐Smith, Jill; De Winter, Channa F.; Deckers, Stij... Journal: Clinical genetics Issue: Volume 95:Issue 4(2019) Page Start: 462 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations. Issue 3 (11th January 2019) Authors: Van‐Gils, Julien; Naudion, Sophie; Toutain, Jérôme; Lancelot, Gwenaelle; Attié‐Bitach, Tania; Blesson, Sophie; Demeer, Bénédicte; Doray, Bérénice; Gonzales, Marie; Martinovic, Jelena; Whalen, Sandra; Taine, Laurence; Arveiler, Benoit; Lacombe, Didier; Fergelot, Patricia Journal: Clinical genetics Issue: Volume 95:Issue 3(2019) Page Start: 420 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Further delineation of the phenotypic spectrum associated with hemizygous loss‐of‐function variants in NONO. Issue 4 (28th December 2019) Authors: Sewani, Maham; Nugent, Kimberly; Blackburn, Patrick R.; Tarnowski, Jessica M.; Hernandez‐Garcia, Andres; Amiel, Jeanne; Whalen, Sandra; Keren, Boris; Courtin, Thomas; Rosenfeld, Jill A.; Yang, Yaping; Patterson, Marc C.; Pichurin, Pavel; McLean, Scott D.; Scott, Daryl A. Journal: American journal of medical genetics Issue: Volume 182:Issue 4(2020) Page Start: 652 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. GGPS1‐associated muscular dystrophy with and without hearing loss. Issue 9 (23rd July 2022) Authors: Kaiyrzhanov, Rauan; Perry, Luke; Rocca, Clarissa; Zaki, Maha S.; Hosny, Heba; Araujo Martins Moreno, Cristiane; Phadke, Rahul; Zaharieva, Irina; Camelo Gontijo, Clara; Beetz, Christian; Pini, Veronica; Movahedinia, Mojtaba; Zanoteli, Edmar; DiTroia, Stephanie; Vuillaumier‐Barrot, Sandrine; Isapof... Journal: Annals of clinical and translational neurology Issue: Volume 9:Issue 9(2022) Page Start: 1465 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly. Issue 12 (23rd July 2021) Authors: El Mouatani, Ahmed; Van Winckel, Géraldine; Zaafrane‐Khachnaoui, Khaoula; Whalen, Sandra; Achaiaa, Amale; Kaltenbach, Sophie; Superti‐Furga, Andrea; Vekemans, Michel; Fodstad, Heidi; Giuliano, Fabienne; Attie‐Bitach, Tania Journal: American journal of medical genetics Issue: Volume 185:Issue 12(2021) Page Start: 3831 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome. Issue 1 (12th November 2017) Authors: Schwartz, Mathias; Sternberg, Damien; Whalen, Sandra; Afenjar, Alexandra; Isapof, Arnaud; Chabrol, Brigitte; Portnoï, Marie‐France; Heide, Solveig; Keren, Boris; Chantot‐Bastaraud, Sandra; Siffroi, Jean‐Pierre Journal: American journal of medical genetics Issue: Volume 176:Issue 1(2018) Page Start: 151 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum. Issue 3 (15th December 2021) Authors: Vibert, Roseline; Mignot, Cyril; Keren, Boris; Chantot‐Bastaraud, Sandra; Portnoï, Marie‐France; Nouguès, Marie‐Christine; Moutard, Marie‐Laure; Faudet, Anne; Whalen, Sandra; Haye, Damien; Garel, Catherine; Chatron, Nicolas; Rossi, Massimiliano; Vincent‐Delorme, Catherine; Boute, Odile; Delobel, ... Journal: Clinical genetics Issue: Volume 101:Issue 3(2022) Page Start: 307 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗