1. A deletion causing NF2 exon 9 skipping is associated with familial autosomal dominant intramedullary ependymoma. Issue 2 (18th December 2013) Authors: Zemmoura, Ilyess; Vourc'h, Patrick; Paubel, Agathe; Parfait, Béatrice; Cohen, Joëlle; Bilan, Frédéric; Kitzis, Alain; Rousselot, Cécilia; Parker, Fabrice; François, Patrick; Andres, Christian R. Journal: Neuro-oncology Issue: Volume 16:Issue 2(2014:Feb.) Page Start: 250 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome. Issue 12 (17th August 2007) Authors: Nava, Caroline; Hanna, Nadine; Michot, Caroline; Pereira, Sabrina; Pouvreau, Nathalie; Niihori, Tetsuya; Aoki, Yoko; Matsubara, Yoichi; Arveiler, Benoit; Lacombe, Didier; Pasmant, Eric; Parfait, Béatrice; Baumann, Clarisse; Héron, Delphine; Sigaudy, Sabine; Toutain, Annick; Rio, Marlène; Goldenbe... Journal: Journal of medical genetics Issue: Volume 44:Issue 12(2007) Page Start: 763 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. DNA repair functional analyses of NBN hypomorphic variants associated with NBN‐related infertility. Issue 3 (28th November 2019) Authors: Fiévet, Alice; Bellanger, Dorine; Zahed, Laila; Burglen, Lydie; Derrien, Anne‐Céline; Dubois d'Enghien, Catherine; Lespinasse, James; Parfait, Béatrice; Pedespan, Jean‐Michel; Rieunier, Guillaume; Stoppa‐Lyonnet, Dominique; Stern, Marc‐Henri Journal: Human mutation Issue: Volume 41:Issue 3(2020) Page Start: 608 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Functional classification of ATM variants in ataxia‐telangiectasia patients. Issue 10 (17th May 2019) Authors: Fiévet, Alice; Bellanger, Dorine; Rieunier, Guillaume; Dubois d'Enghien, Catherine; Sophie, Julia; Calvas, Patrick; Carriere, Jean‐Paul; Anheim, Mathieu; Castrioto, Anna; Flabeau, Olivier; Degos, Bertrand; Ewenczyk, Claire; Mahlaoui, Nizar; Touzot, Fabien; Suarez, Felipe; Hully, Marie; Roubertie,... Journal: Human mutation Issue: Volume 40:Issue 10(2019) Page Start: 1713 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Loss of SMARCE1 expression is a specific diagnostic marker of clear cell meningioma: a comprehensive immunophenotypical and molecular analysis. (12th June 2017) Authors: Tauziede‐Espariat, Arnault; Parfait, Béatrice; Besnard, Aurore; Lacombe, Joëlle; Pallud, Johan; Tazi, Sanaa; Puget, Stéphanie; Lot, Guillaume; Terris, Benoît; Cohen, Joëlle; Vidaud, Michel; Figarella‐Branger, Dominique; Monnien, Franck; Polivka, Marc; Adle‐Biassette, Homa; Varlet, Pascale Journal: Brain pathology Issue: Volume 28:Number 4(2018) Page Start: 466 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Neurofibromatosis type 2 in the elderly population: Clinical and molecular features1. Issue 4 (15th January 2013) Authors: Goutagny, Stéphane; Bah, Alpha B.; Parfait, Béatrice; Sterkers, Olivier; Kalamarides, Michel Journal: American journal of medical genetics Issue: Volume 161:Issue 4(2013:Apr.) Page Start: 667 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. NF1 Molecular Characterization and Neurofibromatosis Type I Genotype–Phenotype Correlation: The French Experience. Issue 11 (26th August 2013) Authors: Sabbagh, Audrey; Pasmant, Eric; Imbard, Apolline; Luscan, Armelle; Soares, Magali; Blanché, Hélène; Laurendeau, Ingrid; Ferkal, Salah; Vidaud, Michel; Pinson, Stéphane; Bellanné‐Chantelot, Christine; Vidaud, Dominique; Parfait, Béatrice; Wolkenstein, Pierre Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1510 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. NF1 Molecular Characterization and Neurofibromatosis Type I Genotype–Phenotype Correlation: The French Experience. Issue 11 (26th August 2013) Authors: Sabbagh, Audrey; Pasmant, Eric; Imbard, Apolline; Luscan, Armelle; Soares, Magali; Blanché, Hélène; Laurendeau, Ingrid; Ferkal, Salah; Vidaud, Michel; Pinson, Stéphane; Bellanné‐Chantelot, Christine; Vidaud, Dominique; Parfait, Béatrice; Wolkenstein, Pierre Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1510 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing. Issue 12 (20th November 2022) Authors: Leman, Raphaël; Parfait, Béatrice; Vidaud, Dominique; Girodon, Emmanuelle; Pacot, Laurence; Le Gac, Gérald; Ka, Chandran; Ferec, Claude; Fichou, Yann; Quesnelle, Céline; Aucouturier, Camille; Muller, Etienne; Vaur, Dominique; Castera, Laurent; Boulouard, Flavie; Ricou, Agathe; Tubeuf, Hélène; Sou... Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 2308 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Surgical Management of Peripheral Nerve Pathology in Patients With Neurofibromatosis Type 2. Issue 2 (10th November 2022) Authors: Peyre, Matthieu; Tran, Suzanne; Parfait, Béatrice; Bernat, Isabelle; Bielle, Franck; Kalamarides, Michel Journal: Neurosurgery Issue: Volume 92:Issue 2(2023) Page Start: 317 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗