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.
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.
Buxbaum, JN. et al. 2019 Treatment of hereditary and acquired forms of transthyretin amyloidosis in the era of personalized medicine: the role of randomized controlled trials There have now been randomized controlled trials of four different therapeutics for hereditary amyloid polyneuropathy related to transthyretin (TTR) deposition and one for amyloidotic cardiomyopathy... Amyloid - issue: 2 - volume: 26 - pages: 55-65.
Romano, D. et al. 2019 Relevance of neuroendocrine tumours models assessed by kinomic profiling - issue: 3 - volume: 80 - pages: 144-148.
Frankel, D. et al. 2019 Detection of ALK and ROS1 rearrangements by immunocytochemistry on cytological samples - issue: 3 - volume: 39 - pages: 227-236.
Chikhaoui, A. et al. 2019 Particular forms of xeroderma pigmentosum and Cockayne syndrome in the Tunisian population - issue: 6 - volume: 180 - pages: E224-E225.
Romanet, P. et al. 2019 Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants - issue: 6 - volume: 40 - pages: 661-674.
Piard, J. et al. 2019 The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature. PURPOSE: Germline WWOX pathogenic variants have been associated with disorder of sex differentiation (DSD), spinocerebellar ataxia (SCA), and WWOX-related epileptic encephalopathy (WOREE syndrome).... Genet Med - issue: 6 - volume: 21 - pages: 1308-1318.
Romanet, P. et al. 2019 Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants. In 2015, the ACMG-AMP guidelines provided a general procedure for the objective and reproducible classification of genomic variants. While the benefits of this framework are of major importance, its... Hum Mutat - issue: 6 - volume: 40 - pages: 661-674.
Amodru, V. et al. 2019 Tumor multifocality with vagus nerve involvement as a phenotypic marker of SDHD mutation in patients with head and neck paragangliomas: A (18) F-FDOPA PET/CT study. BACKGROUND: (18) F-FDOPA PET/CT was proved to be a highly sensitive imaging method for detecting head and neck paraganglioma (HNPGL). The primary aim of the study was to evaluate the relationship... Head Neck - issue: 6 - volume: 41 - pages: 1565-1571.
Piard, J. et al. 2019 The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature PURPOSE: Germline WWOX pathogenic variants have been associated with disorder of sex differentiation (DSD), spinocerebellar ataxia (SCA), and WWOX-related epileptic encephalopathy (WOREE syndrome). We... Genet. Med. - issue: 6 - volume: 21 - pages: 1308-1318.
Romano, D. et al. 2019 Relevance of neuroendocrine tumours models assessed by kinomic profiling Although there is evidence of a significant rise of neuroendocrine tumours (NETs) incidence, current treatments are largely insufficient due to somewhat poor knowledge of these tumours. Despite many... - issue: 3 - volume: 80 - pages: 144-148.