All Stories

  1. Predicting Consanguinity Rates from Exome Sequencing Data in the Lebanese Population

    Article • Journal of Molecular Diagnostics, December 2024, Elsevier

    Andre Megarbane

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

    Article • Genes, July 2024, MDPI AG

    Andre Megarbane

  3. How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype

    Article • European Journal of Medical Genetics, June 2024, Elsevier

    Andre Megarbane

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

    Article • Egyptian Journal of Medical Human Genetics, April 2024, Springer Science + Business Media

    Andre Megarbane

  5. Altered NRG1/ErbB4 signaling and cholesterol metabolism dysregulation are key pathomechanisms in VRK1-related motor neuropathies and motor neuron diseases

    Article • February 2024, Cold Spring Harbor Laboratory Press

    Andre Megarbane

  6. Geroderma Osteodysplastica With Concomitant Transposition of Great Vessels: A Case Report and Literature Review

    Article • Case Reports in Genetics, January 2024, Wiley

    Andre Megarbane

  7. Positive impact of sulfamethoxazole-trimethoprim prophylaxis on prevention of severe infections in a patient with glycogen storage disease type Ib

    Article • Journal of Rare Diseases, December 2023, Springer Science + Business Media

    Andre Megarbane

  8. Epigenetic age acceleration in surviving versus deceased COVID-19 patients with acute respiratory distress syndrome following hospitalization

    Article • Clinical Epigenetics, November 2023, Springer Science + Business Media

    Andre Megarbane

  9. A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects

    Article • Clinical Genetics, October 2023, Wiley

    Andre Megarbane

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

    Article • Genes, July 2023, MDPI AG

    Andre Megarbane

  11. DNA methylation profiling in Trisomy 21 females with and without breast cancer

    Article • Frontiers in Oncology, July 2023, Frontiers

    Andre Megarbane

  12. Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans

    Article • The American Journal of Human Genetics, July 2023, Elsevier

    Dr Philippe M Campeau, Andre Megarbane

  13. The global challenges of the long COVID-19 in adults and children

    Article • Travel Medicine and Infectious Disease, July 2023, Elsevier

    Andre Megarbane, Toufic Chaaban

  14. POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment

    Article • Clinical Immunology, June 2023, Elsevier

    Andre Megarbane

  15. Non‐syndromic hypotrichosis: A report of two novel variants in the LSS gene

    Article • Pediatric Dermatology, April 2023, Wiley

    Andre Megarbane

  16. PCDH19 in Males: Are Hemizygous Variants Linked to Autism?

    Article • Genes, February 2023, MDPI AG

    Andre Megarbane

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

    Article • Genes, February 2023, MDPI AG

    Andre Megarbane

  18. Accelerated epigenetic aging and DNA methylation alterations in Berardinelli–Seip congenital lipodystrophy

    Article • Human Molecular Genetics, January 2023, Oxford University Press (OUP)

    Andre Megarbane

  19. Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

    Article • Genetics in Medicine, January 2023, Elsevier

    Andre Megarbane

  20. Report on a Case with Moreno-Nishimura-Schmidt Overgrowth Syndrome: A Clinically Delineated Disease Yet of an Unknown Origin!

    Article • Molecular Syndromology, January 2023, Karger Publishers

    Andre Megarbane

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

    Article • American Journal of Medical Genetics Part A, December 2022, Wiley

    Andre Megarbane

  22. Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

    Article • JAMA Neurology, December 2022, American Medical Association (AMA)

    Andre Megarbane

  23. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

    Article • Molecular Psychiatry, November 2022, Springer Science + Business Media

    Dr Philippe M Campeau, Andre Megarbane

  24. Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot–Marie–Tooth disease 4H

    Article • Brain, October 2022, Oxford University Press (OUP)

    Andre Megarbane

  25. NEK8-Associated Nephropathies: Do Autosomal Dominant Forms Exist?

    Article • Nephron, October 2022, Karger Publishers

    Andre Megarbane

  26. Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

    Article • Hepatology, September 2022, Wiley

    Andre Megarbane

  27. A Case of Leber Hereditary Optic Neuropathy Triggered by Pfizer-BioNTech Vaccine: Evidence of Pathogenesis of a Novel Mutation

    Article • Journal of Neuro-Ophthalmology, July 2022, Wolters Kluwer Health

    Andre Megarbane

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

    Article • European Journal of Neurology, June 2022, Wiley

    Andre Megarbane

  29. Three complex alleles of CFTR gene identified in Lebanese, Egyptian and French population and their potential impact on splicing

    Article • Cellular and Molecular Biology, April 2022, CMB Association

    Andre Megarbane

  30. Raine syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease

    Article • Prenatal Diagnosis, April 2022, Wiley

    Andre Megarbane

  31. Publisher Correction: Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates

    Article • Nature Genetics, March 2022, Springer Science + Business Media

    Andre Megarbane

  32. Isolated Aldosterone Deficiency Due to an Aldosterone Synthase Mutation: A Rare Cause of Life-Threatening Salt Wasting in Infancy

    Article • Journal of Neonatology, March 2022, SAGE Publications

    Andre Megarbane

  33. Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1

    Article • Neurobiology of Disease, March 2022, Elsevier

    Andre Megarbane

  34. Imbalance of Neuregulin1-ErbB2/3 signaling underlies altered myelin homeostasis in models of Charcot-Marie-Tooth disease type 4H

    Article • January 2022, Cold Spring Harbor Laboratory Press

    Andre Megarbane

  35. DNA methylation signatures in Blood DNA of Hutchinson–Gilford Progeria syndrome

    Article • Aging Cell, January 2022, Wiley

    Andre Megarbane

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

    Article • Neurogenetics, January 2022, Springer Science + Business Media

    Andre Megarbane

  37. A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort

    Article • Journal of Neuromuscular Diseases, January 2022, IOS Press

    Andre Megarbane

  38. Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates

    Article • Nature Genetics, December 2021, Springer Science + Business Media

    Andre Megarbane

  39. Biallelic ZNFX1 variants are associated with a spectrum of immuno‐hematological abnormalities

    Article • Clinical Genetics, November 2021, Wiley

    Andre Megarbane

  40. Prolidase Deficiency Causing Recalcitrant Leg Ulcerations in Siblings

    Article • Advances in Skin & Wound Care, November 2021, Wolters Kluwer Health

    Andre Megarbane

  41. Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

    Article • Genetics in Medicine, October 2021, Elsevier

    Andre Megarbane

  42. Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders

    Article • Genes, September 2021, MDPI AG

    Andre Megarbane

  43. Case Report: The Genetic Diagnosis of Duchenne Muscular Dystrophy in the Middle East

    Article • Frontiers in Pediatrics, September 2021, Frontiers

    Andre Megarbane

  44. Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the HARS2 gene

    Article • Genetic Testing and Molecular Biomarkers, August 2021, Mary Ann Liebert Inc

    Andre Megarbane

  45. Genome sequencing in families with congenital limb malformations

    Article • Human Genetics, June 2021, Springer Science + Business Media

    Andre Megarbane

  46. Consensus Middle East and North Africa Registry on Inborn Errors of Immunity

    Article • Journal of Clinical Immunology, May 2021, Springer Science + Business Media

    Dr Maryam Al-Nesf, Andre Megarbane

  47. Efficacy and safety of methylphenidate on attention deficit hyperactivity disorder in children with Down syndrome

    Article • Journal of Intellectual Disability Research, April 2021, Wiley

    Andre Megarbane

  48. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

    Article • Journal of Medical Genetics, April 2021, BMJ

    Andre Megarbane

  49. Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations inVRK1

    Article • April 2021, Cold Spring Harbor Laboratory Press

    Andre Megarbane

  50. A novel bi‐allelic loss‐of‐function mutation in STIM1 expands the phenotype of STIM1 ‐related diseases

    Article • Clinical Genetics, March 2021, Wiley

    Professor Moiz Bakhiet , Andre Megarbane

  51. Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome

    Article • Molecular Syndromology, January 2021, Karger Publishers

    Andre Megarbane

  52. A Report on a Family with TMTC3-Related Syndrome and Review

    Article • Case Reports in Medicine, November 2020, Hindawi Publishing Corporation

    Andre Megarbane

  53. Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

    Article • Genetics in Medicine, November 2020, Elsevier

    Andre Megarbane

  54. SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family

    Article • Ophthalmic Genetics, October 2020, Taylor & Francis

    Andre Megarbane

  55. SOX11-related syndrome: report on a new case and review

    Article • Clinical Dysmorphology, October 2020, Wolters Kluwer Health

    Andre Megarbane

  56. Clinical and Genetic Features of Patients With Fanconi Anemia in Lebanon and Report on Novel Mutations in the FANCA and FANCG Genes

    Article • Journal of Pediatric Hematology/Oncology, September 2020, Wolters Kluwer Health

    Andre Megarbane

  57. Genome sequencing unveils mutational landscape of the familial Mediterranean fever: Potential implications of IL33/ST2 signalling

    Article • Journal of Cellular and Molecular Medicine, August 2020, Wiley

    Andre Megarbane

  58. 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

    Article • American Journal of Medical Genetics Part A, July 2020, Wiley

    Andre Megarbane

  59. Transcriptomic study in women with trisomy 21 identifies a possible role of the GTPases of the immunity-associated proteins (GIMAP) in the protection of breast cancer

    Article • Scientific Reports, June 2020, Springer Science + Business Media

    Andre Megarbane

  60. Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3

    Article • European Journal of Medical Genetics, May 2020, Elsevier

    Andre Megarbane

  61. Novel Mutations of mtDNA m.14568G>A/m.14568C>T in MT-ND6 and m.7299A>G in MT-CO1: Evidence of Pathogenicity in Leber Hereditary Optic Neuropathy

    Article • Journal of Neuro-Ophthalmology, April 2020, Wolters Kluwer Health

    Andre Megarbane

  62. CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review

    Article • Case Reports in Medicine, April 2020, Hindawi Publishing Corporation

    Andre Megarbane

  63. Homozygous deletion of exons 2–7 within TGFB3 gene in a child with severe Loeys‐Dietz syndrome and Marfan‐like features

    Article • American Journal of Medical Genetics Part A, February 2020, Wiley

    Andre Megarbane

  64. Feeding problems and gastrointestinal diseases in Down syndrome

    Article • Archives de Pédiatrie, January 2020, Elsevier

    Andre Megarbane

  65. Turner syndrome in diverse populations

    Article • American Journal of Medical Genetics Part A, December 2019, Wiley

    Andre Megarbane

  66. Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer’s disease-related dysregulation

    Article • Clinical Epigenetics, December 2019, Springer Science + Business Media

    Andre Megarbane

  67. A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)

    Article • European Journal of Medical Genetics, November 2019, Elsevier

    Andre Megarbane

  68. Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster

    Article • European Journal of Human Genetics, October 2019, Springer Science + Business Media

    Andre Megarbane

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

    Article • Forensic Science International Genetics, September 2019, Elsevier

    Andre Megarbane

  70. Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review

    Article • Journal of Pediatric Genetics, July 2019, Thieme Publishing Group

    Andre Megarbane

  71. The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

    Article • Human Mutation, July 2019, Hindawi Publishing Corporation

    Andre Megarbane

  72. Current Management of Duchenne Muscular Dystrophy in the Middle East: Expert Report

    Article • Neurodegenerative Disease Management, June 2019, Taylor & Francis

    Andre Megarbane

  73. A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs)

    Article • Annals of Neurology, May 2019, Wiley

    Andre Megarbane

  74. Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy

    Article • Journal of Medical Genetics, April 2019, BMJ

    Andre Megarbane

  75. The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency

    Article • Journal of Pediatric Genetics, April 2019, Thieme Publishing Group

    Andre Megarbane

  76. Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1

    Article • Human Molecular Genetics, April 2019, Oxford University Press (OUP)

    Andre Megarbane

  77. A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2)

    Article • European Journal of Medical Genetics, April 2019, Elsevier

    Andre Megarbane

  78. Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations

    Article • Case Reports in Medicine, January 2019, Hindawi Publishing Corporation

    Andre Megarbane

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

    Article • BMC Medical Genomics, January 2019, Springer Science + Business Media

    Andre Megarbane

  80. Cornelia de Lange syndrome in diverse populations

    Article • American Journal of Medical Genetics Part A, January 2019, Wiley

    Andre Megarbane

  81. Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation

    Article • Molecular Syndromology, January 2019, Karger Publishers

    Andre Megarbane

  82. Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

    Article • PLoS Genetics, December 2018, PLOS

    Andre Megarbane

  83. Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature

    Article • Human Molecular Genetics, November 2018, Oxford University Press (OUP)

    Andre Megarbane

  84. Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases

    Article • Molecular Genetics & Genomic Medicine, October 2018, Wiley

    Andre Megarbane

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

    Article • European Cytokine Network, October 2018, John Libbey Eurotext

    Andre Megarbane

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

    Article • BMC Medical Genetics, September 2018, Springer Science + Business Media

    Andre Megarbane

  87. Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men

    Article • The American Journal of Human Genetics, September 2018, Elsevier

    Andre Megarbane

  88. Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

    Article • Human Genetics, August 2018, Springer Science + Business Media

    Andre Megarbane

  89. Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation

    Article • Electrophoresis, July 2018, Wiley

    Andre Megarbane

  90. THU0593 Multicentric osteolysis with nodulosis and arthropathy (MONA): report of the first lebanese family

    Article • Annals of the Rheumatic Diseases, June 2018, Elsevier

    Andre Megarbane

  91. Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

    Article • JAMA Neurology, May 2018, American Medical Association (AMA)

    Andre Megarbane

  92. Williams-Beuren syndrome in diverse populations

    Article • American Journal of Medical Genetics Part A, April 2018, Wiley

    Dr. Rupesh Mishra , Professor Vajira H. W. Dissanayake, Dr Nirmala Dushyanthi Sirisena, Engela Honey, Andre Megarbane

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

    Article • Seizure, April 2018, Elsevier

    Andre Megarbane

  94. Homozygous mutation in ELMO2 may cause Ramon syndrome

    Article • Clinical Genetics, January 2018, Wiley

    Andre Megarbane

  95. COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants

    Article • Molecular Syndromology, January 2018, Karger Publishers

    Andre Megarbane

  96. New chimeric RNAs in acute myeloid leukemia

    Article • F1000Research, December 2017, Faculty of 1000, Ltd.

    Nicolas Gilbert, Andre Megarbane

  97. New chimeric RNAs in acute myeloid leukemia

    Article • F1000Research, August 2017, Faculty of 1000, Ltd.

    Anne-Laure BOUGE, Andre Megarbane, Nicolas Gilbert

  98. Noonan syndrome in diverse populations

    Article • American Journal of Medical Genetics Part A, July 2017, Wiley

    Professor Vajira H. W. Dissanayake, Dr Nirmala Dushyanthi Sirisena, Dr. Rupesh Mishra , Engela Honey, Andre Megarbane

  99. Progressive pseudorheumatoid dysplasia in North and West Africa: Clinical description in ten patients with mutations of WISP3

    Article • Egyptian Journal of Medical Human Genetics, July 2017, Springer Science + Business Media

    Andre Megarbane

  100. Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation

    Article • American Journal of Medical Genetics Part A, May 2017, Wiley

    Andre Megarbane

  101. Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

    Article • Journal of Medical Genetics, March 2017, BMJ

    Andre Megarbane

  102. Next-generation sequencing in familial breast cancer patients from Lebanon

    Article • BMC Medical Genomics, February 2017, Springer Science + Business Media

    Prof. Dr. Ziyad S. Haidar, Andre Megarbane

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

    Article • BMC Genetics, February 2017, Springer Science + Business Media

    Andre Megarbane

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

    Article • BMC Genetics, January 2017, Springer Science + Business Media

    Andre Megarbane

  105. Characterizing the morbid genome of ciliopathies

    Article • Genome Biology, November 2016, Springer Science + Business Media

    Andre Megarbane

  106. Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity

    Article • Journal of Clinical Investigation, October 2016, American Society for Clinical Investigation

    Andre Megarbane

  107. Relationship between Vitamin D Receptor Gene Polymorphisms, Cardiovascular Risk Factors and Adiponectin in a Healthy Young Population

    Article • Pharmacogenomics, September 2016, Taylor & Francis

    Andre Megarbane

  108. Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?

    Article • BMC Medical Genetics, June 2016, Springer Science + Business Media

    Andre Megarbane

  109. Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

    Article • Journal of Human Genetics, May 2016, Springer Science + Business Media

    Andre Megarbane

  110. “Fork and bracket” syndrome expands the spectrum of SBF1 -related sensory motor polyneuropathies

    Article • Neurology Genetics, April 2016, Wolters Kluwer Health

    Andre Megarbane

  111. Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation

    Article • Science Translational Medicine, March 2016, American Association for the Advancement of Science

    Dr Dominic De Nardo, Andre Megarbane

  112. Vibratory Urticaria Associated with a Missense Variant inADGRE2

    Article • The New England Journal of Medicine and Surgery and the Collateral Branches of Science, February 2016, New England Journal of Medicine (NEJM/MMS)

    Andre Megarbane

  113. Coat’s like vasculopathy in leber congenital amaurosis secondary to homozygous mutations in CRB1: a case report and discussion of the management options

    Article • BMC Research Notes, February 2016, Springer Science + Business Media

    Andre Megarbane

  114. Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation inPMPCA

    Article • Brain, December 2015, Oxford University Press (OUP)

    Andre Megarbane

  115. Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay

    Article • European Journal of Medical Genetics, December 2015, Elsevier

    Andre Megarbane

  116. Study of the association of IL-1β and IL-1RA gene polymorphisms with occurrence and severity of Familial Mediterranean fever

    Article • European Journal of Medical Genetics, December 2015, Elsevier

    Andre Megarbane

  117. Germline mutations in early-onset or hereditary breast cancer from the Middle East.

    Article • Journal of Clinical Oncology, October 2015, American Society of Clinical Oncology (ASCO)

    Andre Megarbane

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

    Article • European Journal of Human Genetics, September 2015, Springer Science + Business Media

    Andre Megarbane

  119. WDR73Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

    Article • Human Mutation, August 2015, Hindawi Publishing Corporation

    Andre Megarbane

  120. Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

    Article • The American Journal of Human Genetics, August 2015, Elsevier

    Andre Megarbane

  121. Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

    Article • The American Journal of Human Genetics, August 2015, Elsevier

    Andre Megarbane

  122. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

    Article • Journal of Allergy and Clinical Immunology, August 2015, Elsevier

    Andre Megarbane

  123. Factor XIII deficiency revealed by spontaneous intramedullary hemorrhage

    Article • Blood Coagulation & Fibrinolysis, July 2015, Wolters Kluwer Health

    Andre Megarbane

  124. 10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies

    Article • American Journal of Medical Genetics Part A, June 2015, Wiley

    Andre Megarbane

  125. Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

    Article • Molecular Cytogenetics, June 2015, Springer Science + Business Media

    Andre Megarbane

  126. A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects

    Article • PLOS One, June 2015, PLOS

    Andre Megarbane

  127. Cost-benefit analysis: Newborn screening for inborn errors of metabolism in Lebanon

    Article • Journal of Medical Screening, June 2015, SAGE Publications

    Andre Megarbane

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

    Article • Molecular Cytogenetics, April 2015, Springer Science + Business Media

    Andre Megarbane

  129. PMPCAmutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

    Article • Brain, March 2015, Oxford University Press (OUP)

    Andre Megarbane

  130. Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency

    Article • Orphanet Journal of Rare Diseases, March 2015, Springer Science + Business Media

    Andre Megarbane

  131. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

    Article • American Journal of Medical Genetics Part A, January 2015, Wiley

    Andre Megarbane

  132. Pseudo-Guillain–Barré syndrome masking acute myeloid leukemia relapse: Brief report and review

    Article • Leukemia Research Reports, January 2015, Elsevier

    Andre Megarbane

  133. N1303K (c.3909C>G) Mutation and Splicing: Implication of Its c.[744-33GATT(6); 869+11C>T] Complex Allele inCFTRExon 7 Aberrant Splicing

    Article • BioMed Research International, January 2015, Hindawi Publishing Corporation

    Andre Megarbane

  134. Genome-wide inbreeding estimation within Lebanese communities using SNP arrays

    Article • European Journal of Human Genetics, November 2014, Springer Science + Business Media

    Andre Megarbane

  135. Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia

    Article • Bone, November 2014, Elsevier

    Andre Megarbane

  136. Ex vivo PBMC cytokine profile in familial Mediterranean fever patients: Involvement of IL-1β, IL-1α and Th17-associated cytokines and decrease of Th1 and Th2 cytokines

    Article • Cytokine, October 2014, Elsevier

    Andre Megarbane

  137. Molecular Genetics of the Usher Syndrome in Lebanon: Identification of 11 Novel Protein Truncating Mutations by Whole Exome Sequencing

    Article • PLOS One, September 2014, PLOS

    Andre Megarbane

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

    Article • Human Mutation, August 2014, Wiley

    Andre Megarbane

  139. The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

    Article • Nature Genetics, July 2014, Springer Science + Business Media

    Andre Megarbane

  140. Intragenic rearrangements in X‐linked intellectual deficiency: Results of a‐CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes

    Article • American Journal of Medical Genetics Part A, May 2014, Wiley

    Andre Megarbane

  141. SFCP P-059 - L’autre visage de la maladie de Hirschprung (A propos d’un cas)

    Article • Archives de Pédiatrie, May 2014, Elsevier

    Associate Professor Marie Claude J Fadous khalife , Andre Megarbane

  142. Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome

    Article • The American Journal of Human Genetics, May 2014, Elsevier

    Andre Megarbane

  143. The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia

    Article • PLoS Genetics, May 2014, PLOS

    Andre Megarbane

  144. New insights into genotype–phenotype correlation for GLI3 mutations

    Article • European Journal of Human Genetics, April 2014, Springer Science + Business Media

    Andre Megarbane

  145. Search forReCQL4mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

    Article • Clinical Genetics, March 2014, Wiley

    Andre Megarbane

  146. Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

    Article • Molecular Genetics & Genomic Medicine, March 2014, Wiley

    Dr Mark T Handley, Andre Megarbane

  147. Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1

    Article • Clinical Journal of the American Society of Nephrology, February 2014, American Society of Nephrology

    Dr Stephen J Knohl, Nam Vo, Dr Anthony J Bleyer, Andre Megarbane

  148. Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis

    Article • Clinical Immunology, February 2014, Elsevier

    Andre Megarbane

  149. A second family with autosomal recessive spondylometaphyseal dysplasia and early death

    Article • American Journal of Medical Genetics Part A, January 2014, Wiley

    Andre Megarbane

  150. Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology

    Article • Orphanet Journal of Rare Diseases, January 2014, Springer Science + Business Media

    Andre Megarbane

  151. NPHS2Mutations in Steroid-Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum

    Article • Human Mutation, December 2013, Hindawi Publishing Corporation

    Moin Saleem, Dr Beata S. Lipska-Ziętkiewicz, Andre Megarbane

  152. Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): Case report and literature review

    Article • European Journal of Medical Genetics, December 2013, Elsevier

    Andre Megarbane

  153. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

    Article • Brain, November 2013, Oxford University Press (OUP)

    Andre Megarbane

  154. Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

    Article • Orphanet Journal of Rare Diseases, July 2013, Springer Science + Business Media

    Andre Megarbane

  155. A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency

    Article • Journal of Allergy and Clinical Immunology, July 2013, Elsevier

    Andre Megarbane

  156. The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

    Article • Genome Research, June 2013, Cold Spring Harbor Laboratory Press

    Andre Megarbane

  157. Whole‐exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies

    Article • American Journal of Medical Genetics Part A, May 2013, Wiley

    Andre Megarbane

  158. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

    Article • Clinical Genetics, March 2013, Wiley

    Andre Megarbane

  159. Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations inMBTPS2

    Article • Human Mutation, March 2013, Hindawi Publishing Corporation

    Andre Megarbane

  160. The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ

    Article • European Journal of Human Genetics, February 2013, Springer Science + Business Media

    Andre Megarbane

  161. KBP–cytoskeleton interactions underlie developmental anomalies in Goldberg–Shprintzen syndrome

    Article • Human Molecular Genetics, February 2013, Oxford University Press (OUP)

    Andre Megarbane

  162. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

    Article • European Journal of Human Genetics, February 2013, Springer Science + Business Media

    Andrea Poretti, Dr Francesco Benedicenti, Dr Corrado Romano, Gian Marco Ghiggeri, Rita Barone, Andre Megarbane

  163. Report of a Novel Mutation inCRB1in a Lebanese Family Presenting Retinal Dystrophy

    Article • Ophthalmic Genetics, January 2013, Taylor & Francis

    Andre Megarbane

  164. Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype

    Article • PLOS One, January 2013, PLOS

    Andre Megarbane

  165. Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia

    Article • European Journal of Medical Genetics, January 2013, Elsevier

    Andre Megarbane

  166. Report on a Patient with a 12q24.31 Microdeletion Inherited from an Insulin-Dependent Diabetes Mellitus Father

    Article • Molecular Syndromology, January 2013, Karger Publishers

    Andre Megarbane

  167. The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis

    Article • Human Molecular Genetics, December 2012, Oxford University Press (OUP)

    Andre Megarbane

  168. A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome

    Article • Journal of Allergy and Clinical Immunology, December 2012, Elsevier

    Andre Megarbane

  169. Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy p415

    Article • The American Journal of Human Genetics, November 2012, Elsevier

    Andre Megarbane

  170. Identification and Biochemical Characterization of a Novel Mutation inDDX11Causing Warsaw Breakage Syndrome

    Article • Human Mutation, October 2012, Hindawi Publishing Corporation

    Andre Megarbane

  171. Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations

    Article • October 2012, Bioscientifica

    Andre Megarbane

  172. Lack of anti-citrullinated fibrinogen and anti-CCP antibodies in adult patients with Down syndrome

    Article • Joint Bone Spine, October 2012, Elsevier

    Andre Megarbane

  173. Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome

    Article • Journal of Allergy and Clinical Immunology, September 2012, Elsevier

    Andre Megarbane

  174. Molecular Signatures of Cardiac Defects in Down Syndrome Lymphoblastoid Cell Lines Suggest Altered Ciliome and Hedgehog Pathways

    Article • PLOS One, August 2012, PLOS

    Andre Megarbane

  175. Mutation‐based growth charts for SEDC and otherCOL2A1related dysplasias

    Article • American Journal of Medical Genetics Part C Seminars in Medical Genetics, July 2012, Wiley

    Andre Megarbane

  176. Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

    Article • Brain, June 2012, Oxford University Press (OUP)

    Andre Megarbane

  177. Two novel missense mutations in FGD4/FRABIN cause Charcot‐Marie‐Tooth type 4H (CMT4H)

    Article • Journal of the Peripheral Nervous System, June 2012, Wiley

    Andre Megarbane

  178. De l’intérêt de partenariats autour du bassin méditerranéen pour les maladies rares

    Article • La Presse Médicale, May 2012, Elsevier

    Andre Megarbane

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

    Article • American Journal of Medical Genetics Part A, April 2012, Wiley

    Andre Megarbane

  180. DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations

    Article • European Journal of Human Genetics, February 2012, Springer Science + Business Media

    Andre Megarbane

  181. Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome

    Article • European Journal of Medical Genetics, February 2012, Elsevier

    Andre Megarbane

  182. A Novel Mutation in the <emph type="ital">PORCN</emph> Gene Underlying a Case of Almost Unilateral Focal Dermal Hypoplasia

    Article • Archives of Dermatology, January 2012, American Medical Association (AMA)

    Andre Megarbane

  183. Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity

    Article • The American Journal of Human Genetics, January 2012, Elsevier

    Andre Megarbane

  184. Estimating the Allele Frequency of Autosomal Recessive Disorders through Mutational Records and Consanguinity: The Homozygosity Index (HI)

    Article • Annals of Human Genetics, December 2011, Wiley

    Andre Megarbane

  185. Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity

    Article • The American Journal of Human Genetics, December 2011, Elsevier

    Andre Megarbane

  186. A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2

    Article • Clinical Genetics, October 2011, Wiley

    Andre Megarbane

  187. Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation

    Article • Journal of Intellectual Disability Research, September 2011, Wiley

    Andre Megarbane

  188. Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

    Article • Genetics in Medicine, September 2011, Elsevier

    Andre Megarbane

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

    Article • The American Journal of Human Genetics, September 2011, Elsevier

    Andre Megarbane

  190. Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

    Article • PLoS Genetics, July 2011, PLOS

    Prof Saemah Nuzhat Zafar, Andre Megarbane

  191. Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

    Article • The American Journal of Human Genetics, July 2011, Elsevier

    Professor Damien Bonnet, Andre Megarbane

  192. Heterochromatic Genes Undergo Epigenetic Changes and Escape Silencing in Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) Syndrome

    Article • PLOS One, April 2011, PLOS

    Andre Megarbane

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

    Article • American Journal of Medical Genetics Part A, April 2011, Wiley

    Andre Megarbane

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

    Article • American Journal of Medical Genetics Part A, March 2011, Wiley

    Andre Megarbane

  195. Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

    Article • Journal of Medical Genetics, March 2011, BMJ

    Andre Megarbane

  196. Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

    Article • European Journal of Human Genetics, January 2011, Springer Science + Business Media

    Andre Megarbane

  197. Familial Mediterranean fever in a large Lebanese family: Multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation

    Article • European Journal of Medical Genetics, January 2011, Elsevier

    Andre Megarbane

  198. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome

    Article • Orphanet Journal of Rare Diseases, January 2011, Springer Science + Business Media

    Andre Megarbane

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

    Article • The American Journal of Human Genetics, January 2011, Elsevier

    Andre Megarbane

  200. Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome

    Article • American Journal of Medical Genetics Part A, December 2010, Wiley

    Andre Megarbane

  201. Epigenetic Silencing of Lysyl Oxidase-Like-1 through DNA Hypermethylation in an Autosomal Recessive Cutis Laxa Case

    Article • Journal of Investigative Dermatology, November 2010, Elsevier

    Andre Megarbane

  202. Population genetic data for 17 STR markers from Lebanon

    Article • Legal Medicine, November 2010, Elsevier

    Andre Megarbane

  203. Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

    Article • American Journal of Medical Genetics Part A, September 2010, Wiley

    Andre Megarbane

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

    Article • Neurogenetics, August 2010, Springer Science + Business Media

    Andre Megarbane

  205. Collaborative genomics for human health and cooperation in the Mediterranean region

    Article • Nature Genetics, August 2010, Springer Science + Business Media

    Andre Megarbane

  206. Gain-of-Function Mutations in TRPM4 Cause Autosomal Dominant Isolated Cardiac Conduction Disease

    Article • Circulation Cardiovascular Genetics, August 2010, Wolters Kluwer Health

    Andre Megarbane

  207. Multiple cranial nerve neuropathies, microcephaly, neurological degeneration, and “fork and bracket sign” in the MRI: A distinct syndrome

    Article • American Journal of Medical Genetics Part A, July 2010, Wiley

    Andre Megarbane

  208. 1Novel MEFV transcripts in Familial Mediterranean fever patients and controls

    Article • BMC Medical Genetics, June 2010, Springer Science + Business Media

    Andre Megarbane

  209. CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592

    Article • European Journal of Human Genetics, June 2010, Springer Science + Business Media

    Andre Megarbane

  210. Collaborations autour du Bassin Méditerranéen : succès et attentes

    Article • La Presse Médicale, May 2010, Elsevier

    Andre Megarbane

  211. Bassin méditerranéen : pour le développement de nouveaux partenariats

    Article • La Presse Médicale, May 2010, Elsevier

    Andre Megarbane

  212. Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

    Article • Brain, April 2010, Oxford University Press (OUP)

    Andre Megarbane

  213. Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

    Article • Human Genetics, February 2010, Springer Science + Business Media

    Andre Megarbane

  214. Stüve–Wiedemann syndrome: long‐term follow‐up and genetic heterogeneity

    Article • Clinical Genetics, February 2010, Wiley

    Andre Megarbane

  215. Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome

    Article • The American Journal of Human Genetics, February 2010, Elsevier

    Andre Megarbane

  216. A new familial sclerosing bone dysplasia

    Article • Journal of Bone and Mineral Research, January 2010, Oxford University Press (OUP)

    Andre Megarbane

  217. Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations

    Article • American Journal of Medical Genetics Part A, January 2010, Wiley

    Dr Francesco Benedicenti, Andre Megarbane

  218. NovelTMEM67mutations and genotype-phenotype correlates in meckelin-related ciliopathies

    Article • Human Mutation, January 2010, Wiley

    Dr Francesco Benedicenti, Dr Corrado Romano, Gian Marco Ghiggeri, Andre Megarbane

  219. Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the <i>EDNRB</i> and <i>MITF</i> Genes

    Article • Molecular Syndromology, January 2010, Karger Publishers

    Andre Megarbane

  220. Microalbuminuria versus brain natriuretic peptide in cardiac hypertrophy of hypertensive rats

    Article • Physiological Research, January 2010, Institute of Physiology of the Czech Academy of Sciences

    Andre Megarbane

  221. ExpandingCEP290mutational spectrum in ciliopathies

    Article • American Journal of Medical Genetics Part A, October 2009, Wiley

    Dr Francesco Benedicenti, Professor Luciana Rigoli, Dr Corrado Romano, Gian Marco Ghiggeri, Andre Megarbane

  222. Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

    Article • Neurology, September 2009, Wolters Kluwer Health

    Andre Megarbane

  223. A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects

    Article • Journal of Medical Genetics, September 2009, BMJ

    Andre Megarbane

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

    Article • European Journal of Medical Genetics, September 2009, Elsevier

    Andre Megarbane

  225. The 50th anniversary of the discovery of trisomy 21: The past, present, and future of research and treatment of Down syndrome

    Article • Genetics in Medicine, July 2009, Springer Science + Business Media

    Andre Megarbane

  226. An Autosomal-Recessive Form of Cutis Laxa Is Due to Homozygous Elastin Mutations, and the Phenotype May Be Modified by a Heterozygous Fibulin 5 Polymorphism

    Article • Journal of Investigative Dermatology, July 2009, Elsevier

    Andre Megarbane

  227. Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features

    Article • European Journal of Medical Genetics, July 2009, Elsevier

    Andre Megarbane

  228. A locus for ophthalmo‐acromelic syndrome mapped to 10p11.23

    Article • American Journal of Medical Genetics Part A, February 2009, Wiley

    Andre Megarbane

  229. A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness

    Article • European Journal of Human Genetics, February 2009, Springer Science + Business Media

    Andre Megarbane

  230. MKS3/TMEM67mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

    Article • Human Mutation, February 2009, Wiley

    Dr Corrado Romano, Gian Marco Ghiggeri, Andre Megarbane

  231. Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta

    Article • The American Journal of Human Genetics, February 2009, Elsevier

    Andre Megarbane

  232. Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

    Article • Journal of Medical Genetics, December 2008, BMJ

    Andre Megarbane

  233. International cooperation in the expansion of a newborn screening programme in Lebanon: a possible model for other programmes

    Article • Journal of Inherited Metabolic Disease, November 2008, Wiley

    Andre Megarbane

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

    Article • American Journal of Medical Genetics Part A, November 2008, Wiley

    Andre Megarbane

  235. Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups

    Article • Molecular Immunology, November 2008, Elsevier

    Andre Megarbane

  236. Sib pair with previously unreported skeletal dysplasia

    Article • American Journal of Medical Genetics Part A, October 2008, Wiley

    Andre Megarbane

  237. Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

    Article • Human Mutation, October 2008, Wiley

    Andre Megarbane

  238. Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene

    Article • American Journal of Medical Genetics Part A, September 2008, Wiley

    Andre Megarbane

  239. Re-assigning the DFNB33 locus to chromosome 10p11.23–q21.1

    Article • European Journal of Human Genetics, September 2008, Springer Science + Business Media

    Andre Megarbane

  240. Mutations inTREM2lead to pure early-onset dementia without bone cysts

    Article • Human Mutation, September 2008, Hindawi Publishing Corporation

    Andre Megarbane

  241. Molecular study of 33 families with Fraser syndrome new data and mutation review

    Article • American Journal of Medical Genetics Part A, August 2008, Wiley

    Andre Megarbane

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

    Article • Neurogenetics, August 2008, Springer Science + Business Media

    Andre Megarbane

  243. Molecular analysis of F8 in Lebanese haemophilia A patients: novel mutations and phenotype–genotype correlation

    Article • Haemophilia, July 2008, Wiley

    Andre Megarbane

  244. A multiplex family with possible metaphyseal Spahr‐type dysplasia and exclusion of RMRP and COL10A1 as candidate genes

    Article • American Journal of Medical Genetics Part A, June 2008, Wiley

    Andre Megarbane

  245. A p.C217R Mutation in Fibulin-5 from Cutis Laxa Patients Is Associated with Incomplete Extracellular Matrix Formation in a Skin Equivalent Model

    Article • Journal of Investigative Dermatology, June 2008, Elsevier

    Andre Megarbane

  246. Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes

    Article • Human Genetics, April 2008, Springer Science + Business Media

    Andre Megarbane

  247. Main en miroir : une nouvelle forme avec revue de la littérature

    Article • Revue de Chirurgie Orthopédique et Réparatrice de l Appareil Moteur, April 2008, Elsevier

    Andre Megarbane

  248. Mutations in the Pericentrin ( PCNT ) Gene Cause Primordial Dwarfism

    Article • Science, February 2008, American Association for the Advancement of Science

    Andre Megarbane

  249. 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: Functional and molecular studies on a defect in isoleucine catabolism

    Article • Molecular Genetics and Metabolism, January 2008, Elsevier

    Andre Megarbane

  250. Familial Mediterranean Fever In Lebanon: Founder Effects For DifferentMEFVMutations

    Article • Annals of Human Genetics, January 2008, Wiley

    Andre Megarbane

  251. Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria

    Article • American Journal of Medical Genetics Part A, November 2007, Wiley

    Andre Megarbane

  252. C.P.3.05 MDC1D due to a large genomic insertion in LARGE that causes abnormal gene splicing

    Article • Neuromuscular Disorders, October 2007, Elsevier

    Andre Megarbane

  253. Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia

    Article • The American Journal of Human Genetics, October 2007, Elsevier

    Andre Megarbane

  254. G.O.3 Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H

    Article • Neuromuscular Disorders, October 2007, Elsevier

    Andre Megarbane

  255. Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18q

    Article • European Journal of Medical Genetics, September 2007, Elsevier

    Andre Megarbane

  256. Osseous dysplasia with severe short stature, multiple dislocations, and delayed bone age: Report on a second Lebanese patient

    Article • American Journal of Medical Genetics Part A, July 2007, Wiley

    Andre Megarbane

  257. Familial occurrence of painful subacute thyroiditis associated with human leukocyte antigen-B35

    Article • La Presse Médicale, May 2007, Elsevier

    Andre Megarbane

  258. Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis

    Article • European Journal of Medical Genetics, May 2007, Elsevier

    Andre Megarbane

  259. Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

    Article • The American Journal of Human Genetics, February 2007, Elsevier

    Andre Megarbane

  260. Electron Microscopic Findings in Skin Biopsies from Patients with Infantile Osteopetrosis and Neuronal Storage Disease

    Article • Ultrastructural Pathology, January 2007, Taylor & Francis

    Andre Megarbane

  261. Early lethal autosomal recessive enterocolitis: report of a second family

    Article • Clinical Genetics, December 2006, Wiley

    Andre Megarbane

  262. Syndrôme de Bardet-Biedl : une famille unique pour un gène majeur (BBS10)

    Article • médecine/sciences, November 2006, EDP Sciences

    Andre Megarbane

  263. Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype–genotype correlation

    Article • European Journal of Medical Genetics, November 2006, Elsevier

    Andre Megarbane

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

    Article • European Journal of Human Genetics, July 2006, Springer Science + Business Media

    Andre Megarbane

  265. Correspondence

    Article • Journal of Pediatric Orthopaedics B, July 2006, Wolters Kluwer Health

    Andre Megarbane

  266. Mutations in OSTM1 (Grey Lethal) Define a Particularly Severe Form of Autosomal Recessive Osteopetrosis With Neural Involvement

    Article • Journal of Bone and Mineral Research, July 2006, Oxford University Press (OUP)

    Andre Megarbane

  267. PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase

    Article • Journal of Cell Science, June 2006, The Company of Biologists

    Andre Megarbane

  268. A newly recognized autosomal recessive syndrome with short stature and oculo‐skeletal involvement

    Article • American Journal of Medical Genetics Part A, June 2006, Wiley

    Andre Megarbane

  269. HLA‐C molecular characterization of a Lebanese population and genetic structure of 39 populations from Europe to India–Pakistan

    Article • Tissue Antigens, June 2006, Wiley

    Andre Megarbane

  270. Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

    Article • Nature Genetics, June 2006, Springer Science + Business Media

    Andre Megarbane

  271. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

    Article • Nature Genetics, April 2006, Springer Science + Business Media

    Andre Megarbane

  272. Heterozygous and Homozygous Mutations inPITX3in a Large Lebanese Family with Posterior Polar Cataracts and Neurodevelopmental Abnormalities

    Article • Investigative Ophthalmology & Visual Science, April 2006, Association for Research in Vision and Ophthalmology (ARVO)

    Andre Megarbane

  273. Prevalence of G6PD deficiency and knowledge of diagnosis in a sample of previously unscreened Lebanese males: clinical implications

    Article • Journal of Medical Screening, March 2006, SAGE Publications

    Andre Megarbane

  274. Screening for subtelomeric rearrangements using automated fluorescent genotyping of microsatellite markers: a Lebanese study

    Article • European Journal of Medical Genetics, March 2006, Elsevier

    Andre Megarbane

  275. Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3

    Article • Human Molecular Genetics, January 2006, Oxford University Press (OUP)

    Andre Megarbane

  276. Le diagnostic présymptomatique des maladies graves héréditaires à révélation tardive au Liban : un choix ou une nécessité ?

    Article • Santé Publique, December 2005, CAIRN

    Andre Megarbane

  277. BBS8 is rarely mutated in a cohort of 128 Bardet–Biedl syndrome families

    Article • Journal of Human Genetics, November 2005, Springer Science + Business Media

    Andre Megarbane

  278. Severe autosomal dominant upper‐limb mesomelic dysplasia: report of a second family

    Article • Clinical Genetics, November 2005, Wiley

    Andre Megarbane

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

    Article • European Journal of Medical Genetics, October 2005, Elsevier

    Andre Megarbane

  280. Population Structure in the Mediterranean Basin: A Y Chromosome Perspective

    Article • Annals of Human Genetics, September 2005, Wiley

    Andre Megarbane

  281. Molecular study of WISP3 in nine families originating from the Middle‐East and presenting with progressive pseudorheumatoid dysplasia: Identification of two novel mutations, and description of a founder effect

    Article • American Journal of Medical Genetics Part A, September 2005, Wiley

    Andre Megarbane

  282. Identification of mutations in CUL7 in 3-M syndrome

    Article • Nature Genetics, September 2005, Springer Science + Business Media

    Andre Megarbane

  283. Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient

    Article • Journal of Medical Genetics, August 2005, BMJ

    Andre Megarbane

  284. Analysis of GJB2 mutation: evidence for a Mediterranean ancestor for the 35delG mutation

    Article • Clinical Genetics, June 2005, Wiley

    Dr Ahmed Rebai, Andre Megarbane

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

    Article • Journal of Medical Genetics, June 2005, BMJ

    Andre Megarbane

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

    Article • European Journal of Endocrinology, June 2005, Oxford University Press (OUP)

    Andre Megarbane

  287. Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11

    Article • Journal of Medical Genetics, March 2005, BMJ

    Andre Megarbane

  288. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

    Article • Nature Genetics, February 2005, Springer Science + Business Media

    Andre Megarbane

  289. La leucoencéphalopathie mégalencéphalique avec kystes sous-corticaux : étude d’une famille libanaise et revue de la littérature

    Article • Revue Neurologique, February 2005, Elsevier

    Andre Megarbane

  290. An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures

    Article • Neurology, January 2005, Wolters Kluwer Health

    Andre Megarbane

  291. A new autosomal recessive oto-facial syndrome with midline malformations

    Article • American Journal of Medical Genetics Part A, January 2005, Wiley

    Andre Megarbane

  292. Reply to ocular pathology in congenital heart disease

    Article • Eye, December 2004, Springer Science + Business Media

    Andre Megarbane

  293. Reply to Bianca et al

    Article • Eye, December 2004, Springer Science + Business Media

    Andre Megarbane

  294. DNMT3B mutations and DNA methylation defect define two types of ICF syndrome

    Article • Human Mutation, December 2004, Hindawi Publishing Corporation

    Andre Megarbane

  295. ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome

    Article • The American Journal of Human Genetics, November 2004, Elsevier

    Andre Megarbane

  296. Subcellular distribution of HP1 proteins is altered in ICF syndrome

    Article • European Journal of Human Genetics, October 2004, Springer Science + Business Media

    Andre Megarbane

  297. A newly recognized skeletal dysplasia with rhizomelic limbs and retinitis pigmentosa

    Article • American Journal of Medical Genetics Part A, September 2004, Wiley

    Andre Megarbane

  298. Congenital Erythropoietic Porphyria: Report of a Novel Mutation with Absence of Clinical Manifestations in a Homozygous Mutant Sibling

    Article • Journal of Investigative Dermatology, September 2004, Elsevier

    Andre Megarbane

  299. Five mandibular incisors: an autosomal recessive trait?

    Article • BDJ, September 2004, Springer Science + Business Media

    Andre Megarbane

  300. Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: First report of a Mexican patient and genotype-phenotype correlation

    Article • American Journal of Medical Genetics Part A, June 2004, Wiley

    Andre Megarbane

  301. Further delineation of the odonto–onycho–dermal dysplasia syndrome

    Article • American Journal of Medical Genetics Part A, June 2004, Wiley

    Andre Megarbane

  302. New autosomal recessive syndrome with short stature and facio–auriculo–thoracic malformations

    Article • American Journal of Medical Genetics Part A, June 2004, Wiley

    Andre Megarbane

  303. A newly recognized chondrodysplasia with multiple dislocations

    Article • American Journal of Medical Genetics Part A, June 2004, Wiley

    Andre Megarbane

  304. Ocular pathology in congenital heart disease

    Article • Eye, May 2004, Springer Science + Business Media

    Andre Megarbane

  305. Reverse-Hybridization vs. DNA Sequencing in the Molecular Diagnosis of Familial Mediterranean Fever

    Article • Genetic Testing, April 2004, Mary Ann Liebert Inc

    Andre Megarbane

  306. Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects

    Article • BMC Medical Genetics, February 2004, Springer Science + Business Media

    Andre Megarbane

  307. Erythrodermie congénitale desquamative

    Article • Annales de Dermatologie et de Vénéréologie, February 2004, Elsevier

    Andre Megarbane

  308. Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome

    Article • Ophthalmic Genetics, January 2004, Taylor & Francis

    Andre Megarbane

  309. Clinical homogeneity and genetic heterogeneity in Weill–Marchesani syndrome

    Article • American Journal of Medical Genetics Part A, October 2003, Wiley

    Andre Megarbane

  310. Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts

    Article • Neurology, August 2003, Wolters Kluwer Health

    Andre Megarbane

  311. Post‐natal short stature, short limbs, brachydactyly, facial abnormalities, and delayed bone age: A new syndrome?

    Article • American Journal of Medical Genetics Part A, August 2003, Wiley

    Andre Megarbane

  312. Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo‐Morquio type II syndrome): Report of a new patient and review of the literature

    Article • American Journal of Medical Genetics Part A, July 2003, Wiley

    Andre Megarbane

  313. Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations

    Article • Journal of Medical Genetics, July 2003, BMJ

    Andre Megarbane

  314. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: Report of a new family with additional features and review

    Article • American Journal of Medical Genetics Part A, June 2003, Wiley

    Andre Megarbane

  315. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein

    Article • Nature Genetics, May 2003, Springer Science + Business Media

    Andre Megarbane

  316. Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: Report of a new patient and review of the literature

    Article • American Journal of Medical Genetics Part A, May 2003, Wiley

    Andre Megarbane

  317. A new dominant branchiogenic‐deafness syndrome with internal auditory canal hypoplasia and abnormal extremities

    Article • American Journal of Medical Genetics Part A, April 2003, Wiley

    Andre Megarbane

  318. Primary hypergonadotropic hypogonadism, partial alopecia, and müllerian hypoplasia: Report of a second family with additional findings

    Article • American Journal of Medical Genetics Part A, April 2003, Wiley

    Andre Megarbane

  319. Unknown diagnosis in two male cousins with facial abnormalities, optic atrophy, abnormal EEG, and severe psychomotor retardation

    Article • American Journal of Medical Genetics Part A, December 2002, Wiley

    Andre Megarbane

  320. Leukodystrophy associated with oligodontia in a large inbred family: Fortuitous association or new entity?

    Article • American Journal of Medical Genetics Part A, November 2002, Wiley

    Andre Megarbane

  321. Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

    Article • Journal of Medical Genetics, October 2002, BMJ

    Andre Megarbane

  322. Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1

    Article • Journal of Medical Genetics, October 2002, BMJ

    Andre Megarbane

  323. Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: Macrocephaly–cutis marmorata telangiectatica congenita syndrome or new disorder?

    Article • American Journal of Medical Genetics Part A, September 2002, Wiley

    Andre Megarbane

  324. How many phenotypes in the DTDST family chondrodysplasias?

    Article • Clinical Genetics, August 2002, Wiley

    Andre Megarbane

  325. Tibial/femoral hypoplasia with “hook” pelvis: A potentially unique dysostosis

    Article • American Journal of Medical Genetics, July 2002, Wiley

    Andre Megarbane

  326. Linear and whorled nevoid hypermelanosis with bilateral giant cerebral aneurysms

    Article • American Journal of Medical Genetics, July 2002, Wiley

    Andre Megarbane

  327. Prenatal growth deficiency with narrowness of the cervical spine, subglottic stenosis, hip dislocation, and severe delayed bone ossification: A new skeletal dysplasia

    Article • American Journal of Medical Genetics, July 2002, Wiley

    Andre Megarbane

  328. Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations

    Article • European Journal of Human Genetics, June 2002, Springer Science + Business Media

    Andre Megarbane

  329. Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2

    Article • Human Genetics, March 2002, Springer Science + Business Media

    Andre Megarbane

  330. A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24–25

    Article • Human Genetics, March 2002, Springer Science + Business Media

    Andre Megarbane

  331. DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34

    Article • European Journal of Human Genetics, March 2002, Springer Science + Business Media

    Andre Megarbane

  332. Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation

    Article • American Journal of Medical Genetics, January 2002, Wiley

    Andre Megarbane

  333. A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze family

    Article • Neurogenetics, January 2002, Springer Science + Business Media

    Andre Megarbane

  334. Familial Mediterranean fever: the potential for misdiagnosis of E148V using the E148Q usual RFLP detection method

    Article • Clinical Genetics, January 2002, Wiley

    Andre Megarbane

  335. Chromosome 10p11.2‐p12.2 duplication: Report of a patient and review of the literature

    Article • American Journal of Medical Genetics, December 2001, Wiley

    Andre Megarbane

  336. Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: Previously undescribed MCA/MR syndrome

    Article • American Journal of Medical Genetics, December 2001, Wiley

    Andre Megarbane

  337. Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations

    Article • European Journal of Human Genetics, November 2001, Springer Science + Business Media

    Andre Megarbane

  338. Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene

    Article • Journal of Medical Genetics, October 2001, BMJ

    Andre Megarbane

  339. Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13

    Article • Nature Genetics, July 2001, Springer Science + Business Media

    Andre Megarbane

  340. Nonprogressive autosomal recessive ataxia maps to chromosome 9q34‐9qter in a large consanguineous lebanese family

    Article • Annals of Neurology, June 2001, Wiley

    Andre Megarbane

  341. A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

    Article • Human Molecular Genetics, February 2001, Oxford University Press (OUP)

    Andre Megarbane

  342. Chromosome 10p11.2-p12.2 duplication: Report of a patient and review of the literature

    Article • American Journal of Medical Genetics, January 2001, Wiley

    Andre Megarbane

  343. Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations

    Article • European Journal of Human Genetics, January 2001, Springer Science + Business Media

    Andre Megarbane

  344. Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers

    Article • American Journal of Medical Genetics, January 2001, Wiley

    Andre Megarbane

  345. Severe mental retardation, short stature, facial anomalies, joint laxity, and dislocations in two sisters: Previously undescribed MCA/MR syndrome

    Article • American Journal of Medical Genetics, January 2001, Wiley

    Andre Megarbane

  346. Exclusion of chromosome 15q21.1 in autosomal‐recessive Weill–Marchesani syndrome in an inbred Lebanese family

    Article • Clinical Genetics, December 2000, Wiley

    Andre Megarbane

  347. Chromosome 7q22‐q31 duplication: Report of a new case and review

    Article • American Journal of Medical Genetics, November 2000, Wiley

    Andre Megarbane

  348. Overlap between Baller-Gerold and Rothmund-Thomson syndrome

    Article • Clinical Dysmorphology, October 2000, Wolters Kluwer Health

    Andre Megarbane

  349. X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3

    Article • European Journal of Human Genetics, August 2000, Springer Science + Business Media

    Andre Megarbane

  350. Mapping of a New Locus for Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease to 19q13.1-13.3 in a Large Consanguineous Lebanese Family: Exclusion of MAG as a Candidate Gene

    Article • The American Journal of Human Genetics, July 2000, Elsevier

    Andre Megarbane

  351. Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: Confirmation of autosomal recessive inheritance?

    Article • American Journal of Medical Genetics, May 2000, Wiley

    Andre Megarbane

  352. Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients

    Article • Human Mutation, April 2000, Hindawi Publishing Corporation

    Andre Megarbane

  353. Chromosome 7q22-q31 duplication: Report of a new case and review

    Article • American Journal of Medical Genetics, January 2000, Wiley

    Andre Megarbane

  354. Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type

    Article • Journal of Medical Genetics, January 2000, BMJ

    Andre Megarbane

  355. Mutational Analysis in Lebanese Patients with Congenital Adrenal Hyperplasia due to a Deficit in 21-Hydroxylase

    Article • Hormone Research in Paediatrics, January 2000, Karger Publishers

    Andre Megarbane

  356. Two sibs with myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders

    Article • American Journal of Medical Genetics, December 1999, Wiley

    Andre Megarbane

  357. Autosomal recessive congenital cerebellar hypoplasia and short stature in a large inbred family

    Article • American Journal of Medical Genetics, November 1999, Wiley

    Andre Megarbane

  358. Autosomal recessive congenital cerebellar hypoplasia and short stature in a large inbred family

    Article • American Journal of Medical Genetics, November 1999, Wiley

    Andre Megarbane

  359. Does the cranio-cerebello-cardiac syndrome (3C syndrome) include abdominal malformations?

    Article • Clinical Dysmorphology, October 1999, Wolters Kluwer Health

    Andre Megarbane

  360. Homozygosity for a novel DTDST mutation in a child with a ‘broad bone‐platyspondylic’ variant of diastrophic dysplasia

    Article • Clinical Genetics, July 1999, Wiley

    Andre Megarbane

  361. Autosomal dominant secundum atrial septal defect with various cardiac and noncardiac defects: A new midline disorder

    Article • American Journal of Medical Genetics, March 1999, Wiley

    Andre Megarbane

  362. Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: A new MCA/MR syndrome?

    Article • American Journal of Medical Genetics, March 1999, Wiley

    Andre Megarbane

  363. Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: A new MCA/MR syndrome?

    Article • American Journal of Medical Genetics, March 1999, Wiley

    Andre Megarbane

  364. The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region

    Article • Human Genetics, September 1998, Springer Science + Business Media

    Andre Megarbane

  365. Four sibs with dislocated elbows, bowed tibiae, scoliosis, deafness, cataract, microcephaly, and mental retardation: a new MCA/MR syndrome.

    Article • Journal of Medical Genetics, September 1998, BMJ

    Andre Megarbane

  366. Branchio-oculo-facial syndrome associated with a white forelock

    Article • Clinical Dysmorphology, July 1998, Wolters Kluwer Health

    Andre Megarbane

  367. Prenatal Ultrasonography: Clinical and Radiological Findings in a Boy with Fibrochondrogenesis

    Article • American Journal of Perinatology, July 1998, Thieme Publishing Group

    Andre Megarbane

  368. Craniosynostosis and marfanoid habitus without mental retardation: Report of a third case

    Article • American Journal of Medical Genetics, May 1998, Wiley

    Andre Megarbane

  369. Craniosynostosis and marfanoid habitus without mental retardation: Report of a third case

    Article • American Journal of Medical Genetics, May 1998, Wiley

    Andre Megarbane

  370. New form of hidrotic ectodermal dysplasia in a Lebanese family

    Article • American Journal of Medical Genetics, January 1998, Wiley

    Andre Megarbane

  371. New form of hidrotic ectodermal dysplasia in a Lebanese family

    Article • American Journal of Medical Genetics, January 1998, Wiley

    Andre Megarbane

  372. Congenital glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: Report of another family

    Article • American Journal of Medical Genetics, November 1997, Wiley

    Andre Megarbane

  373. Interstitial duplication of the short arm of chromosome 2: report of a new case and review.

    Article • Journal of Medical Genetics, September 1997, BMJ

    Andre Megarbane

  374. Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities

    Article • Human Genetics, July 1997, Springer Science + Business Media

    Andre Megarbane

  375. High-Resolution Physical Mapping of a 6.7-Mb YAC Contig Spanning a Region Critical for the Monosomy 21 Phenotype in 21q21.3–q22.1

    Article • Genomics, July 1997, Elsevier

    Andre Megarbane

  376. Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardation: a possible new MCA/MR syndrome

    Article • Clinical Dysmorphology, July 1997, Wolters Kluwer Health

    Andre Megarbane

  377. Clinical manifestation of a severe neonatal progeroid syndrome

    Article • Clinical Genetics, March 1997, Wiley

    Andre Megarbane

  378. Rapid fluorescencein situ hybridization on interphasic nuclei to discriminate between homozygous and heterozygous transgenic mice

    Article • Transgenic Research, November 1996, Springer Science + Business Media

    Andre Megarbane

  379. Differences in purine metabolism in patients with Down's syndrome

    Article • Journal of Intellectual Disability Research, December 1993, Wiley

    Andre Megarbane