Andre Megarbane
Lebanese American University
H-index: 74
Asia-Lebanon
Top articles of Andre Megarbane
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
A case of Leber hereditary optic neuropathy triggered by Pfizer-BioNTech vaccine: evidence of pathogenesis of a novel mutation | Journal of Neuro-Ophthalmology | Maria Rizk Ibrahim Dunya Roland Seif Andre Megarbane Ama Sadaka | 2024/3/1 |
A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects | Clinical Genetics | Cybel Mehawej Maroun Ibrahim Lynn Khalife Eliane Chouery Setrida El Hachem | 2024/2 |
Altered NRG1/ErbB4 signaling and cholesterol metabolism dysregulation are key pathomechanisms in VRK1-related motor neuropathies and motor neuron diseases | bioRxiv | Zeinab Hamze Camille Humbert Khalil Rihan Nathalie Roeckel-Trevisiol Christel Castro | 2024 |
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 | Andre Mégarbané Cybel Mehawej Daniel Mahfoud Eliane Chouery Koenraad Devriendt | 2024/4/26 |
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease | Molecular Genetics and Metabolism | Nicole Hammann Dominic Lenz Ivo Baric Ellen Crushell Carlo Dionisi Vici | 2024/3/1 |
19 POLD3 deficiency is associated with syndromic severe combined immunodeficiency including neurodevelopmental delay and hearing impairment | Clinical Immunology | Cybel Mehawej Eliane Chouery Shirine Azar-Atallah Wassim Shebaby Valerie Delague | 2024/5/1 |
The global challenges of the long COVID-19 in adults and children | Travel Medicine and Infectious Disease | Alfonso J Rodriguez-Morales María Camila Lopez-Echeverri Maria Fernanda Perez-Raga Valentina Quintero-Romero Valentina Valencia-Gallego | 2023/6/7 |
Non‐syndromic hypotrichosis: A report of two novel variants in the LSS gene | Pediatric Dermatology | Joelle El Hakim Cybel Mehawej Eliane Chouery Andre Megarbane Jinia El‐Feghaly | 2023/9 |
BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling | American Journal of Medical Genetics Part A | Eliane Chouery Elio Tahan Rim Karam Jana Pharoun Cybel Mehawej | 2023/4 |
POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment | Clinical Immunology | Cybel Mehawej Eliane Chouery Shirine Azar-Atallah Wassim Shebaby Valerie Delague | 2023/6/1 |
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature | Genetics in Medicine | Richard H van Jaarsveld Jack Reilly Marie-Claire Cornips Michael A Hadders Emanuele Agolini | 2023/1/1 |
Three Complex alleles associated with N1303K mutation and their molecular consequences | Veronique LADEVEZE Raëd Farhat Ayman ELSEEDY Marie-Claude Marie-Claude Pasquet Sandra Corbani | 2023/8/12 | |
Accelerated epigenetic aging and DNA methylation alterations in Berardinelli–Seip congenital lipodystrophy | Human Molecular Genetics | Abeer Qannan Yosra Bejaoui Mahmoud Izadi Noha A Yousri Aleem Razzaq | 2023/6/1 |
PCDH19 in Males: Are Hemizygous Variants Linked to Autism? | Genes | Eliane Chouery Jana Makhlouf Wassim Daoud Khatoun Cybel Mehawej Andre Megarbane | 2023/2/27 |
CHAMP1-Related Disorder: Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature | Sarah Abi Raad Vanda Yazbeck Karam Eliane Chouery Cybel Mehawej Andre Megarbane | 2023/7/28 | |
Report on a case with moreno-nishimura-schmidt overgrowth syndrome: A clinically delineated disease yet of an unknown origin! | Molecular Syndromology | Cybel Mehawej Eliane Chouery Ghada Al Hage Chehade Yosra Bejaoui Daniel Mahfoud | 2023/5/31 |
Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation | Eliane Chouery Rim Karam Yves Najm Mrad Cybel Mehawej Nahia Dib El Jalbout | 2023/2/15 | |
DNA methylation profiling in Trisomy 21 females with and without breast cancer | Frontiers in Oncology | Yosra Bejaoui Sara Alresheq Sophie Durand Marie Vilaire-Meunier Louise Maillebouis | 2023/7/19 |
Positive impact of sulfamethoxazole-trimethoprim prophylaxis on prevention of severe infections in a patient with glycogen storage disease type Ib | Journal of Rare Diseases | Marina-Antoinette Khalil Anthony Fata Ernest Diab Elie Raad Amine Wehbe | 2023/12/4 |
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition | Molecular psychiatry | Elizabeth E Palmer Michael Pusch Alessandra Picollo Caitlin Forwood Matthew H Nguyen | 2023/2 |
