Piard, J. et al. 2019 Epileptic encephalopathy due to BRAT1 pathogenic variants: report of eight new patients - issue: 1 - volume: 27 - pages: 263.
Yauy, K. et al. 2019 Evaluation of missense and splicing in silico predictions tools and implementation of an efficient SNV prioritization NGS pipeline for molecular diagnosis of Myopathies and Muscular Dystrophies - issue: 1 - volume: 27 - pages: 339.
Pujol, P. et al. 2019 Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations - issue: 1 - volume: 27 - pages: 562-563.
Faivre, L. et al. 2019 Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene - issue: 1 - volume: 27 - pages: 795-796.
Greco, A. et al. 2019 Molecular Inverse Comorbidity between Alzheimer's Disease and Lung Cancer: New Insights from Matrix Factorization - issue: 13 - volume: 20 - pages: .
Benoit, S. et al. 2019 Self-report questionnaire vs. clinical evaluation form in the French National Registry on facioscapulohumeral dystrophy: a statistical comparison - issue: 1, SI - volume: 26 - pages: 325.
Piard, J. et al. 2019 The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature (vol 21, pg 1308, 2018) - issue: 7 - volume: 21 - pages: 1667.
Pareyson, D. et al. 2019 A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs) - issue: 1 - volume: 86 - pages: 55-67.
Amodru, V. et al. 2019 LARGE ADRENAL INCIDENTALOMAS REQUIRE A DEDICATED DIAGNOSTIC PROCEDURE. Objective: The management of large nonsecreting adrenal tumors (at least 4 cm) is still a matter of debate as it is unclear whether imaging, especially (18)F-fluorodeoxyglucose (FDG), can be used to... Endocr Pract - issue: 7 - volume: 25 - pages: 669-677.
Piard, J. et al. 2019 The phenotypic spectrum of WWOX-related Epileptic Encephalopathy: 20 additional cases and review of the literature - issue: 1 - volume: 27 - pages: 246-247.
Piard, J. et al. 2019 Epileptic encephalopathy due to BRAT1 pathogenic variants: report of eight new patients - issue: 1 - volume: 27 - pages: 263.
Yauy, K. et al. 2019 Evaluation of missense and splicing in silico predictions tools and implementation of an efficient SNV prioritization NGS pipeline for molecular diagnosis of Myopathies and Muscular Dystrophies - issue: 1 - volume: 27 - pages: 339.
Pujol, P. et al. 2019 Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations - issue: 1 - volume: 27 - pages: 562-563.
Faivre, L. et al. 2019 Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene - issue: 1 - volume: 27 - pages: 795-796.
Greco, A. et al. 2019 Molecular Inverse Comorbidity between Alzheimer's Disease and Lung Cancer: New Insights from Matrix Factorization Matrix factorization (MF) is an established paradigm for large-scale biological data analysis with tremendous potential in computational biology. Here, we challenge MF in depicting the molecular bases... - issue: 13 - volume: 20 - pages: .
Benoit, S. et al. 2019 Self-report questionnaire vs. clinical evaluation form in the French National Registry on facioscapulohumeral dystrophy: a statistical comparison - issue: 1, SI - volume: 26 - pages: 325.
Piard, J. et al. 2019 The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature (vol 21, pg 1308, 2018) - issue: 7 - volume: 21 - pages: 1667.
Pareyson, D. et al. 2019 A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs) Objective Charcot-Marie-Tooth (CMT) disease 4B1 and 4B2 (CMT4B1/B2) are characterized by recessive inheritance, early onset, severe course, slowed nerve conduction, and myelin outfoldings. CMT4B3... - issue: 1 - volume: 86 - pages: 55-67.
Castinetti, F. et al. 2019 Age and MEN2 outcome. Aging (Albany NY) - issue: 11 - volume: 11 - pages: 3416-3417.
O'Donnell-Luria, AH. et al. 2019 Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker... Am J Hum Genet - issue: 6 - volume: 104 - pages: 1210-1222.