N. Jalkh

发表

Report of a Novel Mutation in CRB1 in a Lebanese Family Presenting Retinal Dystrophy

E. Chouery, A. Mégarbané, T. Yammine, 2014, Ophthalmic genetics.

1Novel MEFV transcripts in Familial Mediterranean fever patients and controls

E. Chouery, A. Mégarbané, N. Nehme, 2010, BMC Medical Genetics.

Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.

E. Chouery, A. Mégarbané, J. Loiselet, 2005, European journal of medical genetics.

Next-generation sequencing in familial breast cancer patients from Lebanon

E. Chouery, A. Mégarbané, F. Al-Mulla, 2017, BMC Medical Genomics.

Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome

F. Marincola, E. Chouery, A. Mégarbané, 2017, BMC Genetics.

Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: A new collagenopathy?

E. Chouery, A. Mégarbané, C. Boileau, 2012, American journal of medical genetics. Part A.

Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon

E. Chouery, A. Mégarbané, Y. Bignon, 2012, Hereditary cancer in clinical practice.

Actionable Exomic Secondary Findings in 280 Lebanese Participants

E. Chouery, N. Jalkh, C. Mehawej, 2020, Frontiers in Genetics.

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.

A. Vanderver, R. Schiffmann, B. Brais, 2011, American journal of human genetics.

A Homozygous Splicing Mutation in PDE2A in a Family With Atypical Rett Syndrome

E. Chouery, S. Corbani, N. Jalkh, 2020, Movement disorders : official journal of the Movement Disorder Society.

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population

E. Chouery, A. Mégarbané, J. Desvignes, 2019, BMC Medical Genomics.

Genome-wide inbreeding estimation within Lebanese communities using SNP arrays

E. Chouery, A. Mégarbané, A. Leutenegger, 2014, European Journal of Human Genetics.

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients

E. Chouery, A. Mégarbané, L. Villard, 2015, Molecular Cytogenetics.

A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation.

E. Chouery, A. Mégarbané, M. Conte, 2009, European journal of medical genetics.

Genetic susceptibility of bladder cancer in the Lebanese population

E. Chouery, J. Kattan, H. Kourie, 2022, BMC Medical Genomics.

Mitochondrial DNA control region variation in Lebanon, Jordan, and Bahrain.

T. Parsons, E. Chouery, A. Mégarbané, 2019, Forensic Science International: Genetics.

How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

E. Chouery, A. Mégarbané, A. Ravel, 2011, American journal of medical genetics. Part A.

A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation

E. Chouery, S. Kajigaya, N. Young, 2019, Human Genetics.

Erratum to: Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome

W. Liu, F. Marincola, E. Chouery, 2017, BMC Genetics.

Comparative clinical and transcriptomal profiles of breast cancer between French and South Mediterranean patients show minor but significative biological differences.

F. de Longueville, V. Bertholet, J. Remacle, 2008, Cancer genomics & proteomics.

SMOC1 is essential for ocular and limb development in humans and mice.

N. Niikawa, E. Chouery, A. Mégarbané, 2011, American journal of human genetics.

Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the EDNRB and MITF Genes

E. Chouery, A. Mégarbané, Z. Khoueir, 2011, Molecular Syndromology.

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

S. Antonarakis, S. Gimelli, F. Béna, 2014, Human mutation.

Polygenic and Network-based studies in risk identification and demystification of cancer

H. Kourie, N. Jalkh, George Ayoub, 2022, Expert review of molecular diagnostics.

Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene

E. Jabs, Y. Gillerot, E. Chouery, 2005, Journal of Medical Genetics.

A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22–q13.12

E. Chouery, A. Mégarbané, V. Delague, 2008, Neurogenetics.

Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: A new metabolic syndrome?

E. Chouery, A. Mégarbané, C. Caillaud, 2008, American journal of medical genetics. Part A.

Mild Campomelic Dysplasia: Report on a Case and Review

E. Chouery, A. Mégarbané, S. Corbani, 2011, Molecular Syndromology.

Pitfalls of homozygosity mapping: an extended consanguineous Bardet–Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

E. Chouery, A. Mégarbané, J. Mandel, 2006, European Journal of Human Genetics.

Molecular profiling of basal cell carcinomas in young patients

E. Chouery, H. Kourie, F. Haddad, 2021, BMC Medical Genomics.

Familial Mediterranean Fever In Lebanon: Founder Effects For Different MEFV Mutations

E. Génin, E. Chouery, A. Mégarbané, 2007, Annals of human genetics.

RAC1 expression and role in IL-1β production and oxidative stress generation in familial Mediterranean fever (FMF) patients

E. Chouery, A. Mégarbané, J. Lecron, 2018, European Cytokine Network.

Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome

E. Chouery, A. Mégarbané, N. Lévy, 2011, American journal of medical genetics. Part A.

A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability

O. de Backer, E. Chouery, S. Corbani, 2020, Clinical genetics.

Identification by whole-exome sequencing of new single-nucleotide polymorphisms associated with molar-incisor hypomineralisation among the Lebanese population.

E. Chouery, F. Abdel-Sater, F. Ayoub, 2022, European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry.

RAC1 expression and role in IL-1β production and oxidative stress generation in familial Mediterranean fever (FMF) patients

E. Chouery, A. Mégarbané, Cynthia Al Hageh, 2018, European Cytokine Network.

A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22

E. Chouery, A. Mégarbané, N. Lévy, 2011, neurogenetics.

Population genetic data for 17 STR markers from Lebanon.

E. Chouery, A. Mégarbané, M. Coble, 2010, Legal medicine.

Next-generation sequencing in familial breast cancer patients from Lebanon

E. Chouery, A. Mégarbané, F. Al-Mulla, 2017, BMC Medical Genomics.

Coexistence of Kallmann syndrome and complete androgen insensitivity in the same patient.

E. Chouery, A. Mégarbané, J. Hardelin, 2005, European journal of endocrinology.

Atypical pyridoxine dependent epilepsy resulting from a new homozygous missense mutation, in ALDH7A1

E. Chouery, A. Mégarbané, S. Corbani, 2018, Seizure.