Majida Charif

发表

Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2018, Front. Genet..

Morocco's First Biobank: Establishment, Ethical Issues, Biomedical Research Opportunities, and Challenges

Majida Charif, Y. Bentata, Saida Lhousni, 2020, BioMed research international.

OP-BRCM210164 1..21

R. Bowman, G. Holder, M. Caleo, 2021 .

Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.

B. Delprat, Majida Charif, G. Lenaers, 2012, Biochemical and biophysical research communications.

Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss

Majida Charif, G. Lenaers, H. Benrahma, 2013, Indian journal of human genetics.

Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies

Majida Charif, G. Lenaers, H. Charoute, 2022, Orphanet Journal of Rare Diseases.

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

Robert W. Taylor, T. Strom, H. Prokisch, 2018, JAMA neurology.

Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder

C. Fallet-Bianco, A. Laquérriere, C. Bris, 2019, American journal of medical genetics. Part A.

Maternal Effect and Familial Aggregation in a Type 2 Diabetic Moroccan Population

Majida Charif, S. Abdelhak, H. Benrahma, 2011, Journal of Community Health.

Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy

D. Krainc, Majida Charif, D. Bonneau, 2021, Molecular neurodegeneration.

A homozygous nonsense HECW2 variant is associated with neurodevelopmental delay and intellectual disability.

Majida Charif, G. Lenaers, H. Charoute, 2022, European journal of medical genetics.

First characterization of LTBP3 variants in two Moroccan families with hypoplastic amelogenesis imperfecta.

Majida Charif, G. Lenaers, H. Charoute, 2022, Archives of oral biology.

AP4 deficiency

F. Rivier, B. Echenne, R. Horvath, 2018, Neurology: Genetics.

Molecular heterogeneity of β‐thalassemia variants in the Eastern region of Morocco

Majida Charif, Saida Lhousni, Ihab Belmokhtar, 2022, Molecular genetics & genomic medicine.

Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family

Majida Charif, G. Lenaers, H. Charoute, 2017, Molecular Biology Reports.

Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission

N. Boddaert, Majida Charif, D. Bonneau, 2017, Brain : a journal of neurology.

Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT‐TF variant

J. Leid, V. Desquiret-Dumas, Majida Charif, 2015, American journal of medical genetics. Part A.

Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2021, Frontiers in Neurology.

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability

Majida Charif, G. Lenaers, C. Goizet, 2015, Front. Genet..

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.

B. Lorenz, P. Chinnery, P. Yu-Wai-Man, 2015, American Journal of Human Genetics.

Association of Spermatogenic Failure with the b2/b3 Partial AZFc Deletion

Majida Charif, H. Rouba, A. Barakat, 2012, PloS one.

Characterization of SSBP1-related optic atrophy and foveopathy

M. Picot, Majida Charif, G. Lenaers, 2021, Scientific Reports.

Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model

R. Bowman, G. Holder, M. Caleo, 2021, Brain communications.

A ROD–CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY

Majida Charif, P. Amati‐Bonneau, G. Lenaers, 2020, Retina.

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

M. Votruba, C. La Morgia, P. Yu-Wai-Man, 2020, Neurology: Genetics.

Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2022, Genes.

Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!

F. Rivier, Majida Charif, G. Lenaers, 2019, Annals of clinical and translational neurology.

Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment

C. Drissi, C. Bris, D. Goudenège, 2022, Bioscience reports.

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.

Thomas Meitinger, Guy Lenaers, Patrizia Amati-Bonneau, 2016, American journal of human genetics.

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

J. Rosenfeld, P. Stankiewicz, P. Szafranski, 2017, Human Genetics.

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

H. Wilhelm, D. Goudenège, Majida Charif, 2019, The Journal of clinical investigation.

Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion.

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2019, Clinica chimica acta; international journal of clinical chemistry.

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss

Majida Charif, G. Lenaers, H. Charoute, 2017, PloS one.

A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.

Majida Charif, G. Lenaers, H. Charoute, 2015, Gene.

Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma

Majida Charif, G. Lenaers, H. Rouba, 2011, Molecular vision.

Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees

Majida Charif, G. Lenaers, A. Bakhchane, 2015, PloS one.

The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population

Majida Charif, H. Rouba, A. Barakat, 2012, Molecular Biology Reports.

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.

J. Veltman, H. Kremer, Majida Charif, 2010, American journal of human genetics.

Association of the MTHFR A1298C Variant with Unexplained Severe Male Infertility

Majida Charif, H. Benrahma, H. Rouba, 2012, PloS one.

Cancer/Testis Antigen 55 is required for cancer cell proliferation and mitochondrial DNA maintenance.

Y. Pommier, D. Goudenège, V. Desquiret-Dumas, 2022, Mitochondrion.

Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families.

Majida Charif, G. Lenaers, H. Charoute, 2017, International journal of pediatric otorhinolaryngology.

Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases

C. Bris, D. Goudenège, V. Desquiret-Dumas, 2020, Molecular Biology Reports.

ACO2 clinicobiological dataset with extensive phenotype ontology annotation

J. D. den Dunnen, D. Milea, P. Gohier, 2021, Scientific data.

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

F. Rivier, Majida Charif, G. Lenaers, 2015, Human molecular genetics.

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

M. Carbonelli, P. Gohier, P. Yu-Wai-Man, 2021, Brain communications.