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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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Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

American journal of human genetics, 2011-09, Vol.89 (3), p.415-423

2011

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

Hereditary cancer in clinical practice, 2012-06, Vol.10 (1), p.7-7, Article 7

2012

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1Novel MEFV transcripts in Familial Mediterranean fever patients and controls

BMC medical genetics, 2010-06, Vol.11 (1), p.87-87, Article 87

2010

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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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Population genetic data for 17 STR markers from Lebanon

Legal medicine (Tokyo, Japan), 2010-11, Vol.12 (6), p.324-326

2010

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

Expert review of molecular diagnostics, 2022-04, Vol.22 (4), p.427-438

2022

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

Movement disorders, 2020-05, Vol.35 (5), p.896-899

2020

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

Seizure (London, England), 2018-04, Vol.57, p.32-33

2018

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

Clinical genetics, 2020-09, Vol.98 (3), p.288-292

2020

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Results of NGS panel of hereditary breast and ovarian cancer in Lebanese women

Journal of clinical oncology, 2019-05, Vol.37 (15_suppl), p.e13045-e13045

2019

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Genetic Polymorphisms Involved in Bladder Cancer: A Global Review

Oncology reviews, 2023-11, Vol.17, p.10603-10603

2023

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

Human genetics, 2019-12, Vol.138 (11-12), p.1323-1330

2019

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SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice

American journal of human genetics, 2011-01, Vol.88 (1), p.30-41

2011

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Next-generation sequencing in familial breast cancer patients from Lebanon

BMC medical genomics, 2017-02, Vol.10 (1), p.8-8, Article 8

2017

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

European journal of endocrinology, 2005-06, Vol.152 (6), p.813-817

2005

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Genome-wide inbreeding estimation within Lebanese communities using SNP arrays

European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1434-1434

2015

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Erratum: Genome-wide inbreeding estimation within Lebanese communities using SNP arrays

European journal of human genetics : EJHG, 2015-09, Vol.23 (10), p.1434-1434

2015

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Genome-wide inbreeding estimation within Lebanese communities using SNP arrays

European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1364-1369

2015

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

Forensic science international : genetics, 2019-09, Vol.42, p.99-102

2019

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

European Cytokine Network, 2018-12, Vol.29 (4), p.127-135

2018

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Actionable Exomic Secondary Findings in 280 Lebanese Participants

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

Genetic susceptibility of bladder cancer in the Lebanese population

Molecular profiling of basal cell carcinomas in young patients

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

1Novel MEFV transcripts in Familial Mediterranean fever patients and controls

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

Population genetic data for 17 STR markers from Lebanon

Molecular pathogenesis of hereditary lung cancer: a literature review

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

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

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

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

Results of NGS panel of hereditary breast and ovarian cancer in Lebanese women

Genetic Polymorphisms Involved in Bladder Cancer: A Global Review

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

SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice

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

Next-generation sequencing in familial breast cancer patients from Lebanon

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

Genome-wide inbreeding estimation within Lebanese communities using SNP arrays

Erratum: Genome-wide inbreeding estimation within Lebanese communities using SNP arrays

Genome-wide inbreeding estimation within Lebanese communities using SNP arrays

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

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

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