Andre Megarbane (A Mégarbané, André Megarbane, André Megarbané, André Mégarbané)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 39

Top Topics

Botulinum Toxin

Dna Methylation

Intellectual Disability

Top Venues

American journal of medical genetics. Part A

Clinical genetics

Case reports in medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Cybel Mehawej, Joy El Maalouf, Mohamad Abdelkhalik, Peter Mahfouz, Eliane Chouery, Andre Megarbane
CNV Analysis through Exome Sequencing Reveals a Large Duplication Involved in Sex Reversal, Neurodevelopmental Delay, Epilepsy and Optic Atrophy. Genes 15 (7) (2024)
Cybel Mehawej, Joy El Maalouf, Mohamad Abdelkhalik, Peter Mahfouz, Eliane Chouery, Andre Megarbane
CNV Analysis through Exome Sequencing Reveals a Large Duplication Involved in Sex Reversal, Neurodevelopmental Delay, Epilepsy and Optic Atrophy. Genes 15 (7) (2024)
Cybel Mehawej, Joy El Maalouf, Mohamad Abdelkhalik, Peter Mahfouz, Eliane Chouery, Andre Megarbane
CNV Analysis through Exome Sequencing Reveals a Large Duplication Involved in Sex Reversal, Neurodevelopmental Delay, Epilepsy and Optic Atrophy. Genes 15 (7) (2024)
Cybel Mehawej, Joy El Maalouf, Mohamad Abdelkhalik, Peter Mahfouz, Eliane Chouery, Andre Megarbane
CNV Analysis through Exome Sequencing Reveals a Large Duplication Involved in Sex Reversal, Neurodevelopmental Delay, Epilepsy and Optic Atrophy. Genes 15 (7) (2024)
Eliane Chouery, Rim Karam, Yves Najm Mrad, Cybel Mehawej, Nahia Dib El Jalbout, Jamal Bleik, Daniel Mahfoud, Andre Megarbane
Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation. Genes 14 (2) (2023)
Abeer Qannan, Yosra Bejaoui, Mahmoud Izadi, Noha A Yousri, Aleem Razzaq, Colette E Christiansen, George M Martin, Jordana T Bell, Steve Horvath, Junko Oshima, Andre Megarbane, Johan Ericson, Ehsan Pourkarimi, Nady El Hajj
Accelerated epigenetic aging and DNA methylation alterations in Berardinelli-Seip congenital lipodystrophy. Human molecular genetics (2023)
Eliane Chouery, Rim Karam, Yves Najm Mrad, Cybel Mehawej, Nahia Dib El Jalbout, Jamal Bleik, Daniel Mahfoud, Andre Megarbane
Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation. Genes 14 (2) (2023)
Sarah Abi Raad, Vanda Yazbeck Karam, Eliane Chouery, Cybel Mehawej, Andre Megarbane
CHAMP1 -Related Disorder: Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature. Genes 14 (8) (2023)
Eliane Chouery, Jana Makhlouf, Wassim Daoud Khatoun, Cybel Mehawej, Andre Megarbane
PCDH19 in Males: Are Hemizygous Variants Linked to Autism? Genes 14 (3) (2023)
Eliane Chouery, Jana Makhlouf, Wassim Daoud Khatoun, Cybel Mehawej, Andre Megarbane
PCDH19 in Males: Are Hemizygous Variants Linked to Autism? Genes 14 (3) (2023)
Eliane Chouery, Jana Makhlouf, Wassim Daoud Khatoun, Cybel Mehawej, Andre Megarbane
PCDH19 in Males: Are Hemizygous Variants Linked to Autism? Genes 14 (3) (2023)
Cybel Mehawej, Maroun Ibrahim, Lynn Khalife, Eliane Chouery, Setrida El Hachem, Alain Sayad, Aya El Traboulsi, Adlette Inati, Andre Megarbane
A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects. Clinical genetics (2023)
Eliane Chouery, Rim Karam, Yves Najm Mrad, Cybel Mehawej, Nahia Dib El Jalbout, Jamal Bleik, Daniel Mahfoud, Andre Megarbane
Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation. Genes 14 (2) (2023)
Joelle El Hakim, Cybel Mehawej, Eliane Chouery, Andre Megarbane, Jinia El-Feghaly, Jinane E El Khoury
Non-syndromic hypotrichosis: A report of two novel variants in the LSS gene. Pediatric dermatology (2023)
Eliane Chouery, Elio Tahan, Rim Karam, Jana Pharoun, Cybel Mehawej, Andre Megarbane
BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling. American journal of medical genetics. Part A 191 (4) (2022)
Eliane Chouery, Elio Tahan, Rim Karam, Jana Pharoun, Cybel Mehawej, Andre Megarbane
BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling. American journal of medical genetics. Part A 191 (4) (2022)
Eliane Chouery, Elio Tahan, Rim Karam, Jana Pharoun, Cybel Mehawej, Andre Megarbane
BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling. American journal of medical genetics. Part A (2022)
Eliane Chouery, Cybel Mehawej, Andre Megarbane
A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature. Neurogenetics 23 (2) (2022)
Eliane Chouery, Elio Tahan, Rim Karam, Jana Pharoun, Cybel Mehawej, Andre Megarbane
BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling. American journal of medical genetics. Part A 191 (4) (2022)
Eliane Chouery, Elio Tahan, Rim Karam, Jana Pharoun, Cybel Mehawej, Andre Megarbane
BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling. American journal of medical genetics. Part A 191 (4) (2022)
Eliane Chouery, Cybel Mehawej, Sandra Sabbagh, Jamal Bleik, Andre Megarbane
Early infantile epileptic encephalopathy related to NECAP1: Clinical delineation of the disease and review. European journal of neurology 29 (8) (2022)
Jingxuan Shan, Andre Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane
Genetic predisposition to porto-sinusoidal vascular disorder: A functional genomic-based, multigenerational family study. Hepatology (Baltimore, Md.) (2022)
Alexandra Salvi, Cristina Skrypnyk, Nathalie Da Silva, Jon Andoni Urtizberea, Moiz Bakhiet, Catherine Robert, Nicolas Lévy, Andre Megarbane, Valérie Delague, Marc Bartoli
A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases. Clinical genetics 100 (1) (2021)
Salem Alawbathani, Ana Westenberger, Natalia Ordonez-Herrera, Mariam Al-Hilali, Homoud Al Hebby, Fahad Alabbas, Amal M Alhashem, Ghaleb Elyamany, Andre Megarbane, Melis Kose, Nadia Alhashmi, Nashat Al Sukaiti, Mohammed Al-Raqad, Samah Al-Tawalbeh, Omar Abu Adas Blanco, Fadiah Alkhattabi, Danielle Sng, Ruslan Al-Ali, Suliman Khan, Hasan Tawamie, Kornelia Tripolszki, Vasiliki Karageorgou, Roberta Trunzo, Fuad Al Mutairi, Bruno Reversade, Peter Bauer, Aida Maria Bertoli-Avella
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities. Clinical genetics (2021)
Emmanuelle Szenker-Ravi, Tim Ott, Muznah Khatoo, Anne Moreau de Bellaing, Wei Xuan Goh, Yan Ling Chong, Anja Beckers, Darshini Kannesan, Guillaume Louvel, Priyanka Anujan, Vydianathan Ravi, Carine Bonnard, Sebastien Moutton, Patric Schoen, Mélanie Fradin, Estelle Colin, Andre Megarbane, Linda Daou, Ghassan Chehab, Sylvie Di Filippo, Caroline Rooryck, Jean François Deleuze, Anne Boland-Auge, Nicolas Arribard, Rukiye Eker, Sumanty Tohari, Alvin Yu-Jin Ng, Marlène Rio, Chun Teck Lim, Birgit Eisenhaber, Frank Eisenhaber, Byrappa Venkatesh, Jeanne Amiel, Hugues Roest Crollius, Christopher T Gordon, Achim Gossler, Sudipto Roy, Tania Attie-Bitach, Martin Blum, Patrice Bouvagnet, Bruno Reversade
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates. Nature genetics 54 (1) (2021)
M Roche, C Mircher, J Toulas, E Prioux, M Conte, A Ravel, S Falquero, A Labidi, S Stora, S Durand, Andre Megarbane, C Cieuta-Walti
Efficacy and safety of methylphenidate on attention deficit hyperactivity disorder in children with Down syndrome. Journal of intellectual disability research : JIDR 65 (8) (2021)
Sandra Sabbagh, Stephanie Antoun, Andre Megarbane
CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review. Case reports in medicine 2020 (2020)
Asha Deepthi, Omar Fakhoury, Mohamad Daher, Alicia Gambarini, Stephany El-Hayek, Andre Megarbane
SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family. Ophthalmic genetics 42 (1) (2020)
Andre Megarbane, Sayeeda Hana, Stephany El-Hayek, Alicia Gambarini, Mahmoud Taleb Al-Ali, Valérie Delague
Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome. American journal of medical genetics. Part A 182 (8) (2020)
Sayeeda Hana, Deepak Karthik, Jingxuan Shan, Stephany El Hayek, Lotfi Chouchane, Andre Megarbane
A Report on a Family with TMTC3-Related Syndrome and Review. Case reports in medicine 2020 (2020)
Andre Megarbane, Asha Deepthi, Marc Obeid, Mahmoud T Al-Ali, Alicia Gambarini, Stephany El-Hayek
Homozygous deletion of exons 2-7 within TGFB3 gene in a child with severe Loeys-Dietz syndrome and Marfan-like features. American journal of medical genetics. Part A 182 (5) (2020)
Hicham Mansour, Sandra Sabbagh, Sami Bizzari, Stephany El-Hayek, Eliane Chouery, Alicia Gambarini, Martin Gencik, Andre Megarbane
The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency. Journal of pediatric genetics 8 (3) (2019)
Yael Laitman, Tara M Friebel, Drakoulis Yannoukakos, Florentia Fostira, Irene Konstantopoulou, Gisella Figlioli, Bernardo Bonanni, Siranoush Manoukian, Monica Zuradelli, Carlo Alberto Tondini, Barbara Pasini, Paolo Peterlongo, Dijana Plaseska-Karanfilska, Milena Jakimovska Özdemir, Keivan Majidzadeh-A, Shiva Zarinfam, Maria A Loizidou, Andreas Hadjisavvas, Kyriaki Michailidou, Kyriacos Kyriacou, Doron M Behar, Rinat Bernstein Molho, Patricia A Ganz, Paul A James, Michael T Parsons, Aminah Sallam, Olufunmilayo I Olopade, Arun Seth, Georgia Chenevix-Trench, Goska Leslie, Lesley McGuffog, Makia J Marafi, Andre Megarbane, Fahd Al-Mulla, Timothy R Rebbeck, Eitan Friedman
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries. Human mutation 40 (11) (2019)
Pratibha Nair, Lara El-Bazzal, Hicham Mansour, Sandra Sabbagh, Mahmoud Taleb Al-Ali, Alicia Gambarini, Valerie Delague, Stephany El-Hayek, Andre Megarbane
Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review. Journal of pediatric genetics 8 (4) (2019)
Saada Alame, Eliane El-Houwayek, Caroline Nava, Sandra Sabbagh, Ali Fawaz, Anne-Celine Gillart, Dana Hasbini, Christel Depienne, Andre Megarbane
Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations. Case reports in medicine 2019 (2019)
Paul S Kruszka, Yonit A Addissie, Cedrik Tekendo-Ngongang, Kelly L Jones, Sarah K Savage, Neerja Gupta, Nirmala D Sirisena, Vajira H W Dissanayake, C Sampath Paththinige, Teresa Aravena, Sheela Nampoothiri, Dhanya Yesodharan, Katta Mohan Girisha, Siddaramappa Jagdish Patil, Saumya Shekhar Jamuar, Jasmine Chew-Yin Goh, Agustini Utari, Nydia Sihombing, Rupesh Mishra, Neer Shoba Chitrakar, Brenda C Iriele, Ezana Lulseged, Andre Megarbane, Annette Uwineza, Elizabeth Eberechi Oyenusi, Oluwarotimi Bolaji Olopade, Olufemi Adetola Fasanmade, Milagros M Duenas-Roque, Meow-Keong Thong, Joanna Y L Tung, Gary T K Mok, Nicole Fleischer, Godfrey M Rwegerera, María Beatriz de Herreros, Johnathan Watts, Karen Fieggen, Victoria Huckstadt, Angélica Moresco, María Gabriela Obregon, Dalia Farouk Hussen, Neveen A Ashaat, Engy A Ashaat, Brian H Y Chung, Eben Badoe, Sultana M H Faradz, Mona O El Ruby, Vorasuk Shotelersuk, Ambroise Wonkam, Ekanem Nsikak Ekure, Shubha Rao Phadke, Antonio Richieri-Costa, Maximilian Muenke
Turner syndrome in diverse populations. American journal of medical genetics. Part A 182 (2) (2019)
C Mehawej, A Hoischen, R A Farah, I Marey, M David, S Stora, K Lachlan, H G Brunner, Andre Megarbane
Homozygous mutation in ELMO2 may cause Ramon syndrome. Clinical genetics 93 (3) (2018)
Pratibha Nair, Sandra Sabbagh, Hicham Mansour, Ali Fawaz, Ghassan Hmaimess, Peter Noun, Rawane Dagher, Hala Megarbane, Sayeeda Hana, Saada Alame, Maher Lamaa, Dana Hasbini, Roula Farah, Mariam Rajab, Samantha Stora, Oulfat El-Tourjuman, Pauline Abou Jaoude, Gihad E Chalouhi, Rony Sayad, Anne-Celine Gillart, Mahmoud Al-Ali, Valerie Delague, Stephany El-Hayek, Andre Megarbane
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases. Molecular genetics & genomic medicine 6 (6) (2018)
Nancy Choucair, Mariam Rajab, Andre Megarbane, Eliane Chouery
Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation. American journal of medical genetics. Part A 173 (7) (2017)