Andre Megarbane
Lebanese American University
H-index: 74
Asia-Lebanon
Top articles of Andre Megarbane
19 POLD3 deficiency is associated with syndromic severe combined immunodeficiency including neurodevelopmental delay and hearing impairment
Clinical Immunology
2024/5/1
Andre Megarbane
H-Index: 45
How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype.
European Journal of Medical Genetics
2024/4/26
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease
Molecular Genetics and Metabolism
2024/3/1
A case of Leber hereditary optic neuropathy triggered by Pfizer-BioNTech vaccine: evidence of pathogenesis of a novel mutation
Journal of Neuro-Ophthalmology
2024/3/1
Andre Megarbane
H-Index: 45
A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects
Clinical Genetics
2024/2
Andre Megarbane
H-Index: 45
Altered NRG1/ErbB4 signaling and cholesterol metabolism dysregulation are key pathomechanisms in VRK1-related motor neuropathies and motor neuron diseases
bioRxiv
2024
Andre Megarbane
H-Index: 45
The global challenges of the long COVID-19 in adults and children
Travel Medicine and Infectious Disease
2023/6/7
POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment
Clinical Immunology
2023/6/1
Andre Megarbane
H-Index: 45
Accelerated epigenetic aging and DNA methylation alterations in Berardinelli–Seip congenital lipodystrophy
Human Molecular Genetics
2023/6/1
Noha A Yousri
H-Index: 14
Jordana T Bell
H-Index: 51
Steve Horvath
H-Index: 88
Andre Megarbane
H-Index: 45
Johan Ericsson
H-Index: 1
Report on a case with moreno-nishimura-schmidt overgrowth syndrome: A clinically delineated disease yet of an unknown origin!
Molecular Syndromology
2023/5/31
Andre Megarbane
H-Index: 45
Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot–Marie–Tooth disease 4H
Brain
2023/5/2
NEK8-associated nephropathies: do autosomal dominant forms exist?
Nephron
2023/4/4
Sima Tokajian
H-Index: 16
Andre Megarbane
H-Index: 45
BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling
American Journal of Medical Genetics Part A
2023/4
Andre Megarbane
H-Index: 45
PCDH19 in Males: Are Hemizygous Variants Linked to Autism?
Genes
2023/2/27
Andre Megarbane
H-Index: 45
Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation
2023/2/15
Andre Megarbane
H-Index: 45
Positive impact of sulfamethoxazole-trimethoprim prophylaxis on prevention of severe infections in a patient with glycogen storage disease type Ib
Journal of Rare Diseases
2023/12/4
Andre Megarbane
H-Index: 45
Dissimilar histological features in Peutz-Jeghers syndrome and Laugier-Hunziker syndrome
2023/12/4
Non‐syndromic hypotrichosis: A report of two novel variants in the LSS gene
Pediatric Dermatology
2023/9
Andre Megarbane
H-Index: 45
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
Molecular psychiatry
2023/2
Three Complex alleles associated with N1303K mutation and their molecular consequences
2023/8/12
