Eliane Chouery

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 18

Top Topics

Intellectual Disability

Clostridium Difficile

Top Venues

American journal of medical genetics. Part A

Clinical genetics

BMC medical genomics

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, 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)
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, 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)
Nadine Hamdan, Cybel Mehawej, Ghada Sebaaly, Nadine Jalkh, Sandra Corbani, Joelle Abou-Ghoch, O De Backer, Eliane Chouery
A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability. Clinical genetics 98 (3) (2021)
Zahraa Haidar, Nadine Jalkh, Sandra Corbani, Joelle Abou-Ghoch, Ali Fawaz, Cybel Mehawej, Eliane Chouery
A Homozygous Splicing Mutation in PDE2A in a Family With Atypical Rett Syndrome. Movement disorders : official journal of the Movement Disorder Society 35 (5) (2020)
Nadine Jalkh, Sandra Corbani, Zahraa Haidar, Nadine Hamdan, Elias Farah, Joelle Abou Ghoch, Rouba Ghosn, Nabiha Salem, Ali Fawaz, Claudia Djambas Khayat, Mariam Rajab, Chebl Mourani, Adib Moukarzel, Simon Rassi, Bernard Gerbaka, Hicham Mansour, Malek Baassiri, Rawane Dagher, David Breich, André Mégarbané, Jean Pierre Desvignes, Valérie Delague, Cybel Mehawej, Eliane Chouery
The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population. BMC medical genomics 12 (1) (2019)
Zahraa Haidar, Ramzi Temanni, Eliane Chouery, Puthen Jithesh, Wei Liu, Rashid Al-Ali, Ena Wang, Francesco M Marincola, Nadine Jalkh, Soha Haddad, Wassim Haidar, Lotfi Chouchane, André Mégarbané
Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome. BMC genetics 18 (1) (2017)