R. Menassa

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Aliases
R. Menassa, Rita Menassa
Publication record
23 papers · 513 citations · H-index 11

PAPERS

PFMG2025–integrating genomic medicine into the national healthcare system in France
202523 citationsauthor #694
A recurrent splice variant sheds light on 11beta-hydroxylase deficiency in a unique large cohort.
20252 citationsauthor #16
Defining the landscape of TIA1 and SQSTM1 digenic myopathy.
20242 citationsauthor #13
Muscular phenotype description of abnormal THOC2 splicing.
20232 citationsauthor #4
Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation
20231 citationsauthor #2
The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis
20237 citationsauthor #12
Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe
202214 citationsauthor #30
Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy—Case Report
20228 citationsauthor #5
Immune-Mediated Rippling Muscle Disease Associated With Thymoma and Anti-MURC/Cavin-4 Autoantibodies
20227 citationsauthor #8
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies
20219 citationsauthor #9
Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.
201911 citationsauthor #10
Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene
201825 citationsauthor #4
News about the genetics of congenital primary adrenal insufficiency.
201817 citationsauthor #4
Significant response to immune therapies in a case of subacute necrotizing myopathy and FKRP mutations.
20157 citationsauthor #4
A splicing mutation in the DMD gene detected by next-generation sequencing and confirmed by mRNA and protein analysis.
20155 citationsauthor #2
Current Role of Antenatal Diagnosis for Sexual Development Abnormalities. An Update on the Prenatal Management of Congenital Adrenal Hyperplasia and the Dilemmas Raised by its Prenatal Treatment
20150 citationsauthor #2
Functional variants of POC5 identified in patients with idiopathic scoliosis.
2015111 citationsauthor #19
New management strategy of pregnancies at risk of congenital adrenal hyperplasia using fetal sex determination in maternal serum: French cohort of 258 cases (2002-2011).
201489 citationsauthor #2
Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.
201070 citationsauthor #2
Three Novel CYP11B1 Mutations in Congenital Adrenal Hyperplasia due to Steroid 11Beta-Hydroxylase Deficiency in a Moroccan Population
201019 citationsauthor #3
Mutational spectrum of cystic fibrosis in the Lebanese population.
201042 citationsauthor #2
p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.
200837 citationsauthor #1
Functional variants of POC 5 identified in patients with idiopathic scoliosis
year unknown7 citationsauthor #19

TIMELINE

2008 37 citations

2010 131 citations

2014 89 citations

2015 123 citations

2018 42 citations

2019 11 citations

2021 9 citations

2022 29 citations

2023 10 citations

2024 2 citations

2025 25 citations

Unknown 7 citations

R. Menassa

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