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A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature

Neurogenetics, 2022-04, Vol.23 (2), p.85-90

2022

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Actionable Exomic Secondary Findings in 280 Lebanese Participants

Frontiers in genetics, 2020-03, Vol.11, p.208-208

2020

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CNV Analysis through Exome Sequencing Reveals a Large Duplication Involved in Sex Reversal, Neurodevelopmental Delay, Epilepsy and Optic Atrophy

Genes, 2024-07, Vol.15 (7), p.901

2024

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New complementary python codes to locate Single Nucleotide Polymorphisms (SNPs) and Overlapping G-Quadruplex Sequences (G4s)

MethodsX, 2022-01, Vol.9, p.101875-101875, Article 101875

2022

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Analysis of G-quadruplex forming sequences in podocytes-marker genes and their potential roles in inherited glomerular diseases

Heliyon, 2023-09, Vol.9 (9), p.e20233-e20233, Article e20233

2023

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PCDH19 in Males: Are Hemizygous Variants Linked to Autism?

Genes, 2023-02, Vol.14 (3), p.598

2023

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The wolf in disguise: beyond humoral immunodeficiency

The World Allergy Organization journal, 2020-08, Vol.13 (8), p.100326, Article 100326

2020

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ADGRG1-related polymicrogyria syndrome: report on a large consanguineous family with a novel variant and review

Egyptian Journal of Medical Human Genetics, 2024-12, Vol.25 (1), p.54, Article 54

2024

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CHAMP1-Related Disorder: Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature

Genes, 2023-07, Vol.14 (8), p.1546

2023

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Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity

Journal of rare diseases (Berlin, Germany), 2024-07, Vol.3 (1), p.1-9, Article 20

2024

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

BMC medical genomics, 2019-01, Vol.12 (1), p.11-11, Article 11

2019

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Genetic susceptibility of bladder cancer in the Lebanese population

BMC medical genomics, 2022-10, Vol.15 (1), p.1-217, Article 217

2022

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Molecular profiling of basal cell carcinomas in young patients

BMC medical genomics, 2021-07, Vol.14 (1), p.187-9, Article 187

2021

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Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation

Genes, 2023-02, Vol.14 (2), p.497

2023

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The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia

PLoS genetics, 2014-05, Vol.10 (5), p.e1004311-e1004311

2014

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First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene

BMC medical genetics, 2018-09, Vol.19 (1), p.161-161, Article 161

2018

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Early infantile epileptic encephalopathy related to NECAP1: Clinical delineation of the disease and review

European journal of neurology, 2022-08, Vol.29 (8), p.2486-2492

2022

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NEK8-Associated Nephropathies: Do Autosomal Dominant Forms Exist?

Nephron (2015), 2023-04, Vol.147 (3-4), p.229-233

2023

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Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases

Clinical genetics, 2024-08

2024

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Genetic profile of borderline ovarian tumors in the Lebanese population by whole‐exome sequencing

International journal of gynecology and obstetrics, 2023-09, Vol.162 (3), p.1027-1032

2023

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19 POLD3 deficiency is associated with syndromic severe combined immunodeficiency including neurodevelopmental delay and hearing impairment

Clinical immunology (Orlando, Fla.), 2024-05, Vol.262, p.109961, Article 109961

2024

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BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling

American journal of medical genetics. Part A, 2023-04, Vol.191 (4), p.923-929

2023

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DNMT3B deficiency presenting as severe combined immune deficiency: A case report

Clinical immunology (Orlando, Fla.), 2020-06, Vol.215, p.108453-108453, Article 108453

2020

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G-quadruplex forming sequences in the genes coding for cytochrome P450 enzymes and their potential roles in drug metabolism

Biochimie, 2023-11, Vol.214, p.45-56

2023

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Molecular pathogenesis of hereditary lung cancer: a literature review

Pharmacogenomics, 2021-08, Vol.22 (12), p.793-805

2021

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A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature

Actionable Exomic Secondary Findings in 280 Lebanese Participants

CNV Analysis through Exome Sequencing Reveals a Large Duplication Involved in Sex Reversal, Neurodevelopmental Delay, Epilepsy and Optic Atrophy

New complementary python codes to locate Single Nucleotide Polymorphisms (SNPs) and Overlapping G-Quadruplex Sequences (G4s)

Analysis of G-quadruplex forming sequences in podocytes-marker genes and their potential roles in inherited glomerular diseases

PCDH19 in Males: Are Hemizygous Variants Linked to Autism?

The wolf in disguise: beyond humoral immunodeficiency

ADGRG1-related polymicrogyria syndrome: report on a large consanguineous family with a novel variant and review

CHAMP1-Related Disorder: Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature

Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity

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

Genetic susceptibility of bladder cancer in the Lebanese population

Molecular profiling of basal cell carcinomas in young patients

Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia

First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene

Early infantile epileptic encephalopathy related to NECAP1: Clinical delineation of the disease and review

NEK8-Associated Nephropathies: Do Autosomal Dominant Forms Exist?

Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases

Genetic profile of borderline ovarian tumors in the Lebanese population by whole‐exome sequencing

19 POLD3 deficiency is associated with syndromic severe combined immunodeficiency including neurodevelopmental delay and hearing impairment

BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling

DNMT3B deficiency presenting as severe combined immune deficiency: A case report

G-quadruplex forming sequences in the genes coding for cytochrome P450 enzymes and their potential roles in drug metabolism

Molecular pathogenesis of hereditary lung cancer: a literature review

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