Highlights

2020

• Periodontal disorders in a cohort of patients with Cohen syndrome
  Special Care in Dentistry 41, 118–124 (2020)
  A. Lafon, L. Faivre, D. Seux, E. Gautier, L. Duplomb, B. Grogogeat, A. Marcelet, L. Laforest

2019

• Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
  Nature Genetics 51, 1660–1660 (2019)
  P. Vabres, A. Sorlin, S. S. Kholmanskikh, B. Demeer, J. St-Onge, Y. Duffourd, P. Kuentz, J. Courcet, V. Carmignac, P. Garret, D. Bessis, O. Boute, A. Bron, G. Captier, E. Carmi, B. Devauchelle, D. Geneviève, C. Gondry-Jouet, L. Guibaud, A. Lafon, M. Mathieu-Dramard, J. Thevenon, W. B. Dobyns, G. Bernard, S. Polubothu, F. Faravelli, V. A. Kinsler, C. Thauvin, L. Faivre, M. Elizabeth Ross, J. Rivière

• Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
  Nature Genetics 51, 1438–1441 (2019)
  P. Vabres, A. Sorlin, S. S. Kholmanskikh, B. Demeer, J. St-Onge, Y. Duffourd, P. Kuentz, J. Courcet, V. Carmignac, P. Garret, D. Bessis, O. Boute, A. Bron, G. Captier, E. Carmi, B. Devauchelle, D. Geneviève, C. Gondry-Jouet, L. Guibaud, A. Lafon, M. Mathieu-Dramard, J. Thevenon, W. B. Dobyns, G. Bernard, S. Polubothu, F. Faravelli, V. A. Kinsler, C. Thauvin, L. Faivre, M. Elizabeth Ross, J. Rivière

• Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia
  Journal of Molecular Medicine 97, 633–645 (2019)
  L. Duplomb, J. Rivière, G. Jego, R. Da Costa, A. Hammann, J. Racine, A. Schmitt, N. Droin, C. Capron, M. Gougerot-Pocidalo, L. Dubrez, B. Aral, A. Lafon, P. Edery, J. Ghoumid, E. Blair, S. El Chehadeh-Djebbar, V. Carmignac, J. Thevenon, J. Guy, F. Girodon, J. Bastie, L. Delva, L. Faivre, C. Thauvin-Robinet, E. Solary

2014

• Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life
  The American Journal of Human Genetics 95, 113–120 (2014)
  J. Thevenon, M. Milh, F. Feillet, J. St-Onge, Y. Duffourd, C. Jugé, A. Roubertie, D. Héron, C. Mignot, E. Raffo, B. Isidor, S. Wahlen, D. Sanlaville, N. Villeneuve, V. Darmency-Stamboul, A. Toutain, M. Lefebvre, M. Chouchane, F. Huet, A. Lafon, A. de~Saint~Martin, G. Lesca, S. El~Chehadeh, C. Thauvin-Robinet, A. Masurel-Paulet, S. Odent, L. Villard, C. Philippe, L. Faivre, J. Rivière

• Association between periodontal disease and non-fatal ischemic stroke: a case-control study
  Acta Odontologica Scandinavica 72, 687–693 (2014)
  A. Lafon, S. Tala, V. Ahossi, D. Perrin, M. Giroud, Y. Béjot