A. Mégarbané

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

M. Lathrop, C. Petit, M. Mustapha, 2002, European Journal of Human Genetics.

A. Mégarbané, D. Rabier, J. Lejeune, 1992, Annales de genetique.

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

M. Mitchell, A. Mégarbané, C. Béroud, 2018, American journal of human genetics.

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Colin A. Johnson, D. Horn, S. Mundlos, 2005, Nature Genetics.

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

A. Munnich, A. D. den Hollander, F. Cremers, 2013, PloS one.

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

L. Cavalli-Sforza, E. Dermitzakis, S. Antonarakis, 2011, Genetics in Medicine.

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

A. Smahi, C. Bodemer, A. Mégarbané, 2008, American journal of medical genetics. Part A.

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

Colin A. Johnson, M. Huynen, D. Birnbaum, 2017, Journal of Medical Genetics.

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

E. Chouery, A. Mégarbané, J. Fischer, 2005, American journal of medical genetics. Part A.

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

A. Munnich, A. Mégarbané, F. Clerget-Darpoux, 2015, American journal of human genetics.

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

J. Papp, E. Sobel, M. Lathrop, 2001, Nature Genetics.

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

S. O’Rahilly, M. Lathrop, A. Mégarbané, 2002, Journal of medical genetics.

Mutation‐based growth charts for SEDC and other COL2A1 related dysplasias

R. Hennekam, E. Tobias, G. Mortier, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

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

A. Mégarbané, G. Lefranc, M. Claustres, 2012, European Journal of Human Genetics.

prolyl 3-hydroxylation identification of the splice form responsible for mutations : clinical documentation andLEPRE 1 Recessive osteogenesis imperfecta caused

G. Mortier, A. Mégarbané, H. Kayserili, 2009 .

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

G. Mortier, A. Mégarbané, H. Kayserili, 2008, Journal of Medical Genetics.

Cornelia de Lange syndrome in diverse populations

A. R. Porras, I. Krantz, E. Roeder, 2019, American journal of medical genetics. Part A.

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

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

Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.

J. Veltman, P. Ruiz-Lozano, R. Hennekam, 2010, American journal of human genetics.

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

K. Kyriacou, B. Bonanni, O. Olopade, 2019, Human mutation.

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

A. Mégarbané, L. Manchon, G. Lefranc, 2013, European Journal of Human Genetics.

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

E. Chouery, A. Mégarbané, Najeeb Syed, 2020, Journal of cellular and molecular medicine.

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

Laura F. Dagley, A. Goris, K. Schroder, 2016, Science Translational Medicine.

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

E. Chouery, A. Mégarbané, J. Lecron, 2015, European journal of medical genetics.

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.

E. Chouery, A. Mégarbané, N. Salem, 2014, Cytokine.

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

E. Chouery, A. Mégarbané, J. Loiselet, 2011, European journal of medical genetics.

1Novel MEFV transcripts in Familial Mediterranean fever patients and controls

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

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

A. Mégarbané, V. Delague, N. Salem, 2006, European journal of medical genetics.

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

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

Reverse hybridization vs. DNA sequencing in the molecular diagnosis of Familial Mediterranean fever.

A. Mégarbané, C. Oberkanins, G. Kriegshäuser, 2004, Genetic testing.

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

E. Chouery, A. Mégarbané, J. Loiselet, 2004, BMC Medical Genetics.

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

E. Chouery, A. Mégarbané, J. Loiselet, 2002, Clinical genetics.

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

E. Chouery, A. Mégarbané, J. Loiselet, 2001, European Journal of Human Genetics.

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

E. Chouery, A. Mégarbané, J. Loiselet, 2001, European Journal of Human Genetics.

Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients

E. Chouery, A. Mégarbané, J. Loiselet, 2000 .

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

E. Chouery, A. Mégarbané, G. Lefranc, 2021, Journal of neuromuscular diseases.

Next-generation sequencing in familial breast cancer patients from Lebanon

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

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

A. Schäffer, V. Lougaris, R. Geha, 2015, The Journal of allergy and clinical immunology.

Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis.

R. Geha, W. Al-Herz, T. Chatila, 2014, Clinical immunology.

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

A. Mégarbané, I. Ebermann, H. Bolz, 2009, European Journal of Human Genetics.

Noonan syndrome in diverse populations

A. R. Porras, Yonit A. Addissie, R. Stevenson, 2017, American journal of medical genetics. Part A.

Williams–Beuren syndrome in diverse populations

A. R. Porras, Yonit A. Addissie, A. Adeyemo, 2018, American journal of medical genetics. Part A.

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

Kiely N. James, D. Horn, T. Wieland, 2018, Human Genetics.

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

A. Mégarbané, J. Loiselet, V. Delague, 2000, European Journal of Human Genetics.

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

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

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

A. Mégarbané, R. Dietz, R. Harvey, 2009, Journal of Medical Genetics.

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

E. Chouery, A. Mégarbané, H. Jabbour, 2010, Physiological research.

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

A. Mégarbané, S. Adib, S. Assaad, 2015, Journal of medical screening.

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

C. Picard, A. Mégarbané, H. Sasaki, 2014, Orphanet Journal of Rare Diseases.

A. Mégarbané, O. Fakhoury, A. Deepthi, 2020, Ophthalmic genetics.

Homozygous mutation of the IGF 1 receptor gene in a patient with severe pre-and postnatal growth failure and congenital malformations

E. Chouery, A. Mégarbané, R. Pfäffle, 2012 .

Ocular pathology in congenital heart disease

A. Mansour, A. Mégarbané, E. Traboulsi, 2005, Eye.

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

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

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

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

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

A. Mégarbané, S. Julia, N. Philip, 2014, American journal of medical genetics. Part A.

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

R. Lewis, N. Katsanis, E. Chouery, 2006, Nature Genetics.

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

E. Chouery, A. Mégarbané, R. Pfäffle, 2012, European journal of endocrinology.

Characterizing the morbid genome of ciliopathies

Colin A. Johnson, Anason S. Halees, M. Ueffing, 2016, Genome Biology.

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).

A. Mégarbané, V. Delague, M. Obeid, 2019, European journal of medical genetics.

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

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

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

Toshiro K. Ohsumi, R. Geha, J. Chou, 2013, The Journal of allergy and clinical immunology.

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

R. Lewis, N. Katsanis, E. Chouery, 2006, Nature Genetics.

ESPE Bulletin Board

F. Santilli, K. Lindsten, E. Chouery, 2000, Hormone Research in Paediatrics.

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

A. Mégarbané, L. Santoro, Y. Parman, 2019, Annals of neurology.

New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family.

A. Mégarbané, L. Viollet, C. Maurage, 2001, American journal of medical genetics.

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

D. Zafeiriou, B. Weschke, A. Mégarbané, 2010, Brain : a journal of neurology.

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.

A. Mégarbané, J. Delabar, C. van Broeckhoven, 1997, Genomics.

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

D. Sillence, A. Munnich, J. Casanova, 2011, American journal of human genetics.

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

A. Mégarbané, Z. Lukacs, S. Adib, 2008, Journal of Inherited Metabolic Disease.

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.

A. Munnich, A. Mégarbané, L. Faivre, 2004, American journal of human genetics.

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

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

Genome-wide inbreeding estimation within Lebanese communities using SNP arrays

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

UvA-DARE ( Digital Academic Repository ) Loss of the BMP Antagonist , SMOC-1 , Causes Ophthalmo-Acromelic ( Waardenburg Anophthalmia ) Syndrome in Humans and Mice

Wieczorek, Dagmar, Rosanna, 2011 .

Genotype–Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2

K. Grzeschik, A. Mégarbané, R. Happle, 2013, Human mutation.

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome

A. Mégarbané, H. Mégarbané, 2011, Orphanet journal of rare diseases.

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

A. Mégarbané, V. Delague, P. Nair, 2018, Molecular Syndromology.

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

J. Ziegler, S. Tangye, J. Church, 2012, The Journal of allergy and clinical immunology.

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

A. Mégarbané, C. Caillaud, A. Cassia, 2003, American journal of medical genetics. Part A.

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

A. Mégarbané, A. Boland, J. Deleuze, 2015, PloS one.

A newly recognized chondrodysplasia with multiple dislocations

A. Mégarbané, I. Ghanem, 2004, American journal of medical genetics. Part A.

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

A. Mégarbané, M. Vekemans, D. Theophile, 1997, Journal of medical genetics.

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

A. Mégarbané, P. Barros-Núñez, N. Macías-Gómez, 2004, American journal of medical genetics. Part A.

Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.

J. Kelsoe, P. Kimmel, A. Mégarbané, 2014, Clinical journal of the American Society of Nephrology : CJASN.

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

A. Green, E. Bongers, R. Hennekam, 2015, American journal of medical genetics. Part A.

An unknown autoinflammatory syndrome associated with short stature and dysmorphic features in a young boy.

E. Chouery, A. Mégarbané, V. Delague, 2002, The Journal of rheumatology.

Homozygous mutation in ELMO2 may cause Ramon syndrome

A. Hoischen, H. Brunner, A. Mégarbané, 2018, Clinical genetics.

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.

A. Mégarbané, R. de Cid, J. Sass, 2009, The Journal of investigative dermatology.

A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model.

A. Mégarbané, P. Sommer, O. Damour, 2008, The Journal of investigative dermatology.

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

A. Mégarbané, T. Cho, S. Ikegawa, 2010, American journal of medical genetics. Part A.

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

A. Mégarbané, S. Sabbagh, S. Antoun, 2020, Case reports in medicine.

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

A. Mégarbané, V. Delague, S. Bizzari, 2020, European journal of medical genetics.

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

J. Stinson, J. Jaremko, A. Goris, 2017, Pediatric Rheumatology.

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

A. Mégarbané, C. Depienne, D. Hasbini, 2019, Case reports in medicine.

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

A. Mégarbané, Annemieke Aartsma-Rus, Walaa Alshuaibi, 2021, Frontiers in Pediatrics.

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

A. Mégarbané, J. Desvignes, N. Lévy, 2019, Human molecular genetics.

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

O. Pongs, A. Mégarbané, A. Bozio, 2010, Circulation. Cardiovascular genetics.

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

S. Züchner, M. Lek, F. Muntoni, 2013, Brain : a journal of neurology.

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

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

Feeding problems and gastrointestinal diseases in Down syndrome.

A. Mégarbané, A. Rebillat, C. Mircher, 2019, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

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

E. Chouery, A. Mégarbané, S. Corbani, 2018, BMC Medical Genetics.

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

N. Niikawa, A. Mégarbané, N. Matsumoto, 2009, American journal of medical genetics. Part A.

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

A. Munnich, A. Mégarbané, B. Hamel, 2010, Clinical genetics.

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

S. Antonarakis, E. Chouery, A. Mégarbané, 2014, Bone.

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

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

A Cytogenetic Register of Down Syndrome in Lebanon

A. Mégarbané, L. Zahed, 1998, Public Health Genomics.

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

W. Reardon, G. Mortier, O. Klein, 2011, American journal of medical genetics. Part A.

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

A. Mégarbané, J. Bleik, A. Délézoïde, 1998, Clinical dysmorphology.

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

I. Jackson, R. Hennekam, H. Brunner, 2011, PLoS genetics.

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

A. Mégarbané, V. Delague, P. Nair, 2019, Journal of Pediatric Genetics.

A new familial sclerosing bone dysplasia

E. Chouery, A. Mégarbané, G. Lefranc, 2010, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Pure partial 7p trisomy including the TWIST,HOXA, and GLI3genes

A. Mégarbané, M. Vekemans, M. Prieur, 2001, Journal of medical genetics.

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

E. Chouery, A. Mégarbané, G. Lefranc, 2013, European journal of medical genetics.

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

Robert P. Carson, Robert C. Pedersen, Sean T. Hwang, 2022, JAMA neurology.

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

J. Alroy, A. Mégarbané, G. Lefranc, 2007, Ultrastructural pathology.

Supplemental Data Additive Loss-of-Function Mutations in Proteasome-Subunit-Genes induce Type-I-interferon production in CANDLE / PRAAS

E. Remmers, A. Mégarbané, K. Rother, 2015 .

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

A. Mégarbané, J. Loiselet, P. Bouvagnet, 1999, American journal of medical genetics.

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

A. Mégarbané, V. Drouin‐Garraud, F. Fenaille, 2018, Electrophoresis.

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

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

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

A. Mégarbané, E. Lanino, G. Lefranc, 2006, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

Saskia M. J. Hopman, R. Pfundt, E. van Binsbergen, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Human Couples An Association Between the Kinship and Fertility

R. Hennekam, Y. Crow, A. Ekici, 2008 .

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

A. Mégarbané, B. Loeys, L. Nuytinck, 2001, American journal of medical genetics.

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

A. Mégarbané, A. Bertoli-Avella, Ruslan Al-Ali, 2021, Clinical genetics.

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

A. Mégarbané, L. Chouchane, Deepak Karthik, 2020, Case reports in medicine.

New insights into genotype–phenotype correlation for GLI3 mutations

A. Munnich, A. Mégarbané, A. Afenjar, 2014, European Journal of Human Genetics.

A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia.

K. Grzeschik, E. Chouery, A. Mégarbané, 2012, Archives of dermatology.

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

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

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

A. Mégarbané, V. Delague, M. Al-Ali, 2020, American journal of medical genetics. Part A.

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

E. Chouery, A. Mégarbané, M. Rajab, 2017, American journal of medical genetics. Part A.

Current management of Duchenne muscular dystrophy in the Middle East: expert report

A. Mégarbané, L. Bastaki, A. Shehri, 2019, Neurodegenerative disease management.

Vibratory Urticaria Associated with a Missense Variant in ADGRE2.

K. Kidd, J. Mullikin, A. Pakstis, 2016, The New England journal of medicine.

Identification and Biochemical Characterization of a Novel Mutation in DDX11 Causing Warsaw Breakage Syndrome

E. Chouery, A. Mégarbané, G. Rouleau, 2013, Human mutation.

NPHS2 Mutations in Steroid‐Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum

A. Mégarbané, K. Dahan, G. Mollet, 2014, Human mutation.

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

A. Mégarbané, N. Matsumoto, N. Miyake, 2013, American journal of medical genetics. Part A.

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

A. Mégarbané, B. Andresen, J. Sass, 2008, Molecular genetics and metabolism.

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

E. Chouery, A. Mégarbané, H. Cavé, 2004, American journal of medical genetics. Part A.

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

A. Mégarbané, G. Chalouhi, A. Nassar, 2022, Prenatal diagnosis.

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

Jean Muller, O. Poch, N. Katsanis, 2010, Human Genetics.

BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families

A. Mégarbané, M. Cossée, J. Mandel, 2006, Journal of Human Genetics.

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

A. Mégarbané, Peter Makhoul, Kevin G. Makhoul, 2022, Journal of Neonatology.

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

E. Chouery, A. Mégarbané, R. Slim, 2001, American journal of medical genetics.

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

J. Gécz, R. Hennekam, A. Mégarbané, 2005, Journal of Medical Genetics.

UvA-DARE ( Digital Academic Repository ) Mutation screening in Borjeson-Forssman-Lehmann syndrome : identification of a novel de novo PHF 6 mutation in a female patient

R. Hennekam, A. Mégarbané, G. Turner, 2006 .

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

E. Chouery, A. Mégarbané, M. Morris, 2008, Haemophilia : the official journal of the World Federation of Hemophilia.

Collaborative genomics for human health and cooperation in the Mediterranean region

Giovanni Romeo, Lefkos Middleton, Drakoulis Yannoukakos, 2010, Nature Genetics.

Five mandibular incisors: an autosomal recessive trait?

A. Mégarbané, A. Cassia, A. Féki, 2004, British Dental Journal.

Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.

E. Chouery, A. Mégarbané, D. Schorderet, 2009, American journal of human genetics.

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

A. Mégarbané, M. Vekemans, D. Sanlaville, 2007, European journal of medical genetics.

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

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

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

E. Chouery, A. Mégarbané, S. Corbani, 2013, Molecular Syndromology.

One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC).

S. Klauck, A. Poustka, A. Mégarbané, 2001, Genetic counseling.

Further delineation of the odonto–onycho–dermal dysplasia syndrome

A. Mégarbané, V. Delague, N. Boehm, 2004, American journal of medical genetics. Part A.

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

A. Mégarbané, I. Ghanem, N. Waked, 2006, American journal of medical genetics. Part A.

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.

G. Mortier, A. Mégarbané, R. Scott, 2011, American journal of human genetics.

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

N. Prescott, P. Scambler, C. Roberts, 2003, Nature Genetics.

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

J. Kere, A. Mégarbané, G. Lefranc, 2008, Molecular immunology.

X-linked reticulate pigmentary layer. Report of a new patient and demonstration of a skewed X-inactivation.

E. Chouery, A. Mégarbané, N. Lévy, 2005, Genetic counseling.

Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.

Elias I Traboulsi, Yong Xiong, Ahmad Mansour, 2014, American journal of human genetics.

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

Franck Sturtz, William C Mobley, A. Mégarbané, 2009, Genetics in Medicine.

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

S. Antonarakis, A. Serretti, E. Falconnet, 2018, Human molecular genetics.

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

M. Lathrop, J. Prud'homme, A. Mégarbané, 2006, Human molecular genetics.

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

E. Remmers, D. Kastner, A. Mégarbané, 2016, Journal of Clinical Investigation.

Characterizing the morbid genome of ciliopathies

Colin A. Johnson, Anason S. Halees, M. Ueffing, 2016, Genome Biology.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

A. Munnich, C. Fallet-Bianco, I. Gut, 2021, Journal of Medical Genetics.

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

J. Melki, A. Mégarbané, P. Jouk, 2013, Human molecular genetics.

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

P. Robinson, S. Mundlos, E. Chouery, 2006, American journal of human genetics.

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

Xavier Estivill, Andrew J Sharp, Stefano Vicari, 2013, Genome research.

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

E. Chouery, A. Mégarbané, G. Lefranc, 2017 .

Non-collagenic etiologies of muscle weakness with joint deformities: about two paradigmatic case reports.

A. Mégarbané, I. Nishino, M. Thambyayah, 2005, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

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

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

A. Mégarbané, V. Delague, S. Bizzari, 2020, Clinical dysmorphology.

Adult neuronal ceroid lipofuscinosis with palmitoyl‐protein thioesterase deficiency: First adult‐onset patients of a childhood disease

E. Chouery, A. Mégarbané, J. Loiselet, 2001, Annals of neurology.

Severe mental retardation with marfanoid habitus in a young Lebanese male. A diagnostic challenge.

A. Mégarbané, C. Chammas, 1997, Genetic counseling.

Mutations in TREM2 lead to pure early‐onset dementia without bone cysts

E. Chouery, A. Mégarbané, V. Delague, 2008, Human mutation.

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

M. Mitchell, M. Mattéi, A. Mégarbané, 2006, Journal of Cell Science.

Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.

E. Chouery, A. Mégarbané, P. de Mazancourt, 2007, American journal of human genetics.

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

A. Mégarbané, N. Lévy, V. Delague, 2012, Journal of the peripheral nervous system : JPNS.

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

J. Gécz, A. Zinn, M. Stratton, 2008, Human Genetics.

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

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

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

D. MacArthur, F. Marincola, M. Lek, 2016, BMC Medical Genetics.

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

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

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

A. Mansour, A. Mégarbané, J. Majewski, 2014, PloS one.

A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome

A. Mansour, A. Mégarbané, J. Majewski, 2011, Ophthalmic genetics.

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

A. Mansour, H. Chaib, C. Petit, 1998, Human Genetics.

New chimeric RNAs in acute myeloid leukemia

A. Mégarbané, N. Gilbert, J. Lemaître, 2017, F1000Research.

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

Janel O. Johnson, D. Hernandez, A. Singleton, 2012, Brain : a journal of neurology.

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.

Reinhard Ullmann, Stefan Mundlos, Lynn Greenhalgh, 2007, American journal of human genetics.

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

A. Mégarbané, G. Lefranc, M. Claustres, 2011, PloS one.

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

A. Mégarbané, J. Fryns, D. Bourc’his, 2005, Human mutation.

Subcellular distribution of HP1 proteins is altered in ICF syndrome

A. Mégarbané, M. Mattei, A. Moncla, 2005, European Journal of Human Genetics.

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

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

A 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

Valérie Delague, Mireille Claustres, E. Chouery, 2002, Neurogenetics.

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

E. Remmers, D. Kastner, A. Mégarbané, 2015, The Journal of clinical investigation.

Epigenetic silencing of lysyl oxidase-like-1 through DNA hypermethylation in an autosomal recessive cutis laxa case.

A. Mégarbané, P. Sommer, O. Damour, 2010, The Journal of investigative dermatology.

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

A. Mégarbané, A. Kitzis, V. Ladevèze, 2015, BioMed research international.

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

A. Mégarbané, J. Loiselet, M. Claustres, 1997, Human Genetics.

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

C Binquet, A. Mégarbané, A. Toutain, 2013, Clinical genetics.

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

E. Chouery, A. Mégarbané, J. Loiselet, 2000, Hormone Research in Paediatrics.

Identification of mutations in CUL7 in 3-M syndrome

A. Munnich, P. Scambler, R. Hennekam, 2005, Nature Genetics.

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

Rémi Bos, A. Mégarbané, F. Brocard, 2021, Neurobiology of Disease.

KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.

P. Bénit, A. Mégarbané, P. Rustin, 2013, Human molecular genetics.

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

A. Munnich, G. Mortier, A. Mégarbané, 2000, Journal of medical genetics.

What's so funny about peace, love and understanding?

A. Mégarbané, N. Akarsu, A. Tolun, 2009, Nature Genetics.

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

A. Mégarbané, G. Lefranc, A. Rebillat, 2020, Scientific Reports.

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

A. Mégarbané, J. Lejeune, M. Rethoré, 2008, Journal of intellectual disability research : JIDR.

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

A. Mégarbané, M. Gannagé-Yared, M. Fabre, 2003, American journal of medical genetics. Part A.

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

S. Horvath, A. Mégarbané, T. Haaf, 2022, Aging cell.

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

A. Mégarbané, E. Zein, S. Karaa, 2007, Presse medicale.

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

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

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

D. Sillence, S. Robertson, A. Mégarbané, 2010, American journal of medical genetics. Part A.

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

A. Munnich, E. Chouery, A. Mégarbané, 2014, PLoS genetics.

Interstitial duplication oftheshort armof chromosome 2:report ofanewcaseandreview

A. Mégarbané, M. Vekemans, D. Theophile, 1997 .

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

E. Chouery, A. Mégarbané, D. Stoppa-Lyonnet, 2020, Journal of pediatric hematology/oncology.

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

R. Geha, A. Bousfiha, W. Al-Herz, 2021, Journal of Clinical Immunology.

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

A. Mégarbané, F. Hamdan, J. Michaud, 2015, European journal of medical genetics.

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

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

Turner syndrome in diverse populations

Yonit A. Addissie, A. Mégarbané, V. Dissanayake, 2019, American journal of medical genetics. Part A.

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

E. Chouery, A. Mégarbané, N. Choucair, 2015, American journal of medical genetics. Part A.

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts

E. Bertini, A. Mégarbané, A. Federico, 2003, Neurology.

Clinical homogeneity and genetic heterogeneity in Weill–Marchesani syndrome

A. Munnich, A. Mégarbané, R. Gorlin, 2003, American journal of medical genetics. Part A.

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

E. Chouery, A. Mégarbané, N. Lévy, 2005, Journal of Medical Genetics.

TO JMG Homozygosity mapping of autosomal recessive demyelinating

E. Chouery, A. Mégarbané, T. Maisonobe, 2005 .

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

A. Mégarbané, N. Lévy, J. Vallat, 2003, Journal of medical genetics.

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

A. Mégarbané, A. Brice, D. Sherman, 2001, Human molecular genetics.

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.

E. Chouery, A. Mégarbané, J. Loiselet, 2000, American journal of human genetics.

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

L. Notarangelo, R. Geha, J. Chou, 2012, The Journal of allergy and clinical immunology.

Genome sequencing in families with congenital limb malformations

D. Horn, S. Mundlos, M. Spielmann, 2021, Human Genetics.

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

C. Robert, A. Mégarbané, N. Lévy, 2020, Clinical genetics.

Mild Campomelic Dysplasia: Report on a Case and Review

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

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

A. Mégarbané, S. Bizzari, P. Nair, 2021, Genes.

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

K. Campbell, E. Chouery, A. Mégarbané, 2011, European Journal of Human Genetics.

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

A. Mégarbané, R. Nabbout, V. Delague, 2000, American journal of medical genetics.

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

A. Mégarbané, J. Desvignes, S. Baulande, 2021, Molecular Syndromology.

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

E. Chouery, A. Mégarbané, G. Lefranc, 2012, Clinical genetics.

Mutations in FGD 4 encoding the Rho GDP / GTP Exchange Factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4 H

E. Chouery, A. Mégarbané, N. Lévy, 2008 .

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

E. Chouery, A. Mégarbané, D. Grid, 2007, Neuromuscular Disorders.

Erratum: Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type i IFN production (Journal of Clinical Investigation (2015) 125:11 (4196-4211) DOI: 10.1172/JCI81260)

E. Remmers, D. Kastner, A. Mégarbané, 2016 .

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

M. Lathrop, C. Petit, M. Mustapha, 2002, Human Genetics.

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

A. Mégarbané, L. Mourey, A. Verloes, 2015, Orphanet Journal of Rare Diseases.

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

A. Munnich, J. García-Verdugo, A. Mégarbané, 2014, Nature Genetics.

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

W. Reardon, H. Brunner, A. Mégarbané, 2013, Orphanet Journal of Rare Diseases.

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

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

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

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

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

Toshiro K. Ohsumi, L. Notarangelo, R. Geha, 2016, The Journal of clinical investigation.

A new autosomal recessive oto‐facial syndrome with midline malformations

E. Chouery, A. Mégarbané, V. Delague, 2005, American journal of medical genetics. Part A.

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

R. Redon, D. Duboule, A. Mégarbané, 2019, European Journal of Human Genetics.

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

B. Venkatesh, H. R. Crollius, F. Eisenhaber, 2021, Nature Genetics.

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

A. Mégarbané, A. Sanchez‐Mazas, G. Lefranc, 2006, Tissue antigens.

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

A. Munnich, K. Devriendt, R. Hennekam, 2011, Journal of Medical Genetics.

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

A. Mégarbané, S. Rassi, Farid Estephan, 2004, American journal of medical genetics. Part A.

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

J. Clayton-Smith, A. Mégarbané, S. Lyonnet, 2003, American journal of medical genetics. Part A.

[Familial Mediterranean Fever (FMF): from diagnosis to treatment].

A. Mégarbané, J. Loiselet, G. Lefranc, 2004, Sante.

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

Albert David, Jon Andoni Urtizberea, Bruno Eymard, 2019, Journal of Medical Genetics.

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

A. Munnich, A. Mégarbané, D. Bacq, 2002, Human Genetics.

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

E. Chouery, A. Mégarbané, V. Cormier-Daire, 2012, European journal of medical genetics.

Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling.

E. Chouery, A. Mégarbané, M. Lalanne, 2004, The Journal of investigative dermatology.

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

E. Chouery, A. Mégarbané, A. Dömling, 2022, Hepatology.

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

M. Mustapha, A. Mégarbané, J. Loiselet, 2000, Clinical genetics.

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

A. Mégarbané, A. Deepthi, M. Obeid, 2020, American journal of medical genetics. Part A.

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

J. Bell, A. Mégarbané, G. Martin, 2023, Human molecular genetics.

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

B. Venkatesh, H. R. Crollius, F. Eisenhaber, 2021, Nature Genetics.

Population Structure in the Mediterranean Basin: A Y Chromosome Perspective

D. Goldstein, V. Pascali, Mark George Thomas, 2006, Annals of human genetics.

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

A. Mégarbané, A. Ramírez, M. Wagner, 2019, Clinical Epigenetics.

Relationship between vitamin D receptor gene polymorphisms, cardiovascular risk factors and adiponectin in a healthy young population.

E. Chouery, A. Mégarbané, A. Hajj, 2016, Pharmacogenomics.

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

E. Chouery, A. Mégarbané, G. Lefranc, 2007, European journal of medical genetics.

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

Martin S. Taylor, Mark T. Handley, I. Jackson, 2014, Molecular genetics & genomic medicine.

Tibial/femoral hypoplasia with "hook" pelvis: a potentially unique dysostosis.

A. Mégarbané, I. Ghanem, 2002, American journal of medical genetics.

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

A. Mégarbané, P. Jabbour, I. Ghanem, 2002, American journal of medical genetics.

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

Nicolas Levy, Valérie Delague, E. Chouery, 2010, European Journal of Human Genetics.

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

C. Petit, M. Mustapha, E. Chouery, 2001, Journal of medical genetics.

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

A. Mégarbané, R. Touraine, L. Dauphinot, 2012, PloS one.

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

A. Munnich, A. Mégarbané, V. El Ghouzzi, 2002, Journal of medical genetics.

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

C. Petit, D. Weil, E. Chouery, 2009, European Journal of Human Genetics.

New form of hidrotic ectodermal dysplasia in a Lebanese family.

A. Mégarbané, V. D. Der Kaloustian, Z. Noujeim, 1998, American journal of medical genetics.

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

J. Lupski, S. Berkovic, A. Mégarbané, 2005, Neurology.

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

A. Mégarbané, J. Loiselet, A. Rötig, 1999, American journal of medical genetics.

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

A. Mégarbané, L. Villard, P. Cacciagli, 2009, European journal of medical genetics.

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

K. Devriendt, R. Hennekam, H. Brunner, 2008, Science.

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

Golder N Wilson, Carol J. Saunders, J. Rosenfeld, 2022, Molecular Psychiatry.

Reply to Bianca et al

A. Mégarbané, E. Traboulsi, A. Mansour, 2005, Eye.

Familial Mediterranean Fever: Clinical and Genetic Characteristics among Lebanese Pediatric Population

A. Mégarbané, Zeina Z. Naja, A. Naja, 2016 .

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

E. Chouery, A. Mégarbané, J. Loiselet, 2000, Human mutation.

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

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

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

A. Mégarbané, V. Delague, S. Bizzari, 2019, European journal of medical genetics.

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

E. Chouery, A. Mégarbané, M. Mattei, 2006, European journal of medical genetics.

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

A. Mégarbané, J. Loiselet, M. Vekemans, 2000, American journal of medical genetics.

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

L. Shaffer, C. Kashork, B. Bejjani, 2002, American journal of medical genetics.

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

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

Early lethal autosomal recessive enterocolitis: report of a second family

A. Mégarbané, R. Sayad, 2006, Clinical genetics.

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.

S. Scherer, C. Marshall, T. Paton, 2015, Brain : a journal of neurology.

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.

E. Chouery, A. Mégarbané, J. Fayyad, 2012, Journal of intellectual disability research : JIDR.

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

A. Mégarbané, G. Lefranc, H. Mégarbané, 2004, American journal of medical genetics. Part A.

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

I Scala, Alain Verloes, M. Elmaleh, 2009, Neurology.

Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

A. Mégarbané, V. Delague, G. Isaya, 2016, Brain : a journal of neurology.

Sib pair with previously unreported skeletal dysplasia

A. Mégarbané, I. Melki, R. Dagher, 2008, American journal of medical genetics. Part A.

Overlap between Baller-Gerold and Rothmund-Thomson syndrome.

A. Mégarbané, J. Loiselet, J. Bonaventure, 2000, Clinical dysmorphology.

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

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

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

D. Prayer, A. Mégarbané, D. Wieczorek, 2015, Human mutation.

[Megalencephalic leucoencephalopathy with subcortical cysts: a study of a Lebanese family and a review of the literature].

A. Mégarbané, S. Koussa, T. Rizk, 2005, Revue neurologique.

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

A. Mégarbané, K. Tomey, G. Wakim, 1997, American journal of medical genetics.

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

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

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

E. Chouery, A. Mégarbané, L. Faivre, 2013, European journal of medical genetics.

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

A. Mégarbané, A. Souissi, Mariem Ben Said, 2021, Genetic testing and molecular biomarkers.

Aplasia of the pubic bone in conjunction with hip dislocation.

A. Mégarbané, I. Ghanem, 2006, Journal of pediatric orthopedics. Part B.

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

A. Mégarbané, A. Superti-Furga, M. le Merrer, 1999, Clinical genetics.

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

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

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

S. Klebe, C. Duyckaerts, C. van Broeckhoven, 2020, Genetics in Medicine.

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

S. Klebe, C. Duyckaerts, C. van Broeckhoven, 2020, Genetics in Medicine.

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

E. Chouery, A. Mégarbané, I. Ghanem, 2008, American journal of medical genetics. Part A.

Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: Report on a novel mutation

E. Chouery, A. Mégarbané, N. Waked, 2012, Molecular vision.

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

A. Mégarbané, G. Lefranc, A. Rebillat, 2020, Scientific Reports.

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

E. Chouery, A. Mégarbané, Ahmed Rebai, 2005, Clinical genetics.

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

M. Lathrop, C. Petit, M. Mustapha, 2002, European Journal of Human Genetics.

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

E. Chouery, A. Mégarbané, C. Mehawej, 2022, American Journal of Medical Genetics. Part A.

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

A. Mégarbané, J. Borg, N. Lévy, 2022, Brain : a journal of neurology.

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

A. Mégarbané, J. Borg, N. Lévy, 2022, bioRxiv.

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

A. Mégarbané, G. Kreichati, K. Kharrat, 1998, Journal of medical genetics.

A newly recognized skeletal dysplasia with rhizomelic limbs and retinitis pigmentosa

A. Mégarbané, L. Daou, N. Melick, 2004, American Journal of Medical Genetics. Part A.

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

A. Mégarbané, J. Loiselet, V. Delague, 1999, American journal of medical genetics.

Population genetic data for 17 STR markers from Lebanon.

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

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

P. Fergelot, A. Mégarbané, N. Chassaing, 2016, Journal of Human Genetics.

PCDH19 in Males: Are Hemizygous Variants Linked to Autism?

E. Chouery, A. Mégarbané, C. Mehawej, 2023, Genes.

Craniosynostosis, telecanthus, scalp hair abnormalities, and sensorineural deafness in two sibs.

E. Chouery, A. Mégarbané, J. Hersh, 2002, American journal of medical genetics.

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

A. Mégarbané, J. P. Escalera-Antezana, A. Rodríguez-Morales, 2023, Travel medicine and infectious disease.

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

E. Chouery, A. Mégarbané, C. Mehawej, 2022, neurogenetics.

Next-generation sequencing in familial breast cancer patients from Lebanon

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

[Cockayne syndrome in Lebanon. Description of 3 cases and review of the literature].

A. Mégarbané, M. Mezzina, P. Jabre, 1999, Le Journal medical libanais. The Lebanese medical journal.

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

A. Mégarbané, G. Chalouhi, D. Hasbini, 2018, Molecular genetics & genomic medicine.

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

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

Linear and whorled nevoid hypermelanosis with bilateral giant cerebral aneurysms.

A. Smahi, A. Mégarbané, B. Loeys, 2002, American journal of medical genetics.

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

A. Mégarbané, Somar M. Hasan, Osama Mostafa, 2016, BMC Research Notes.

Clinical manifestation of a severe neonatal progeroid syndrome

A. Mégarbané, J. Loiselet, 1997, Clinical genetics.

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

Tommaso Mazza, Enza Maria Valente, Marta Romani, 2016, Neurology: Genetics.

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

Diana Rodriguez, A. Mégarbané, D. Rodriguez, 2010, American journal of medical genetics. Part A.

Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.

B. Bejjani, A. Mégarbané, D. Stockton, 2006, Investigative ophthalmology & visual science.

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

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

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

A. Mégarbané, T. Pippucci, Y. Anikster, 2012, Annals of human genetics.

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

Kiely N. James, D. Horn, T. Wieland, 2018, Human Genetics.

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.

A. Mégarbané, G. Azar, A. Sadaka, 2020, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

Cornelia de Lange syndrome type 5: report of two new cases

A. Mégarbané, S. Stora, M. Obeid, 2018 .

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

E. Chouery, A. Mégarbané, E. El Rassy, 2015, Leukemia research reports.

Cost-benefit analysis of G6PD screening in Lebanese newborn males.

A. Mégarbané, J. Loiselet, S. Adib, 2007, Le Journal medical libanais. The Lebanese medical journal.

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

A. Mégarbané, J. Loiselet, S. Adib, 2006, Journal of medical screening.

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

M. Mustapha, E. Chouery, A. Mégarbané, 2023, Clinical immunology.

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

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

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

A. Mégarbané, C. Caillaud, M. le Merrer, 2004, American journal of medical genetics. Part A.

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

A. Mégarbané, P. Sinet, D. Paris, 1996, Transgenic Research.

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

A. Mégarbané, M. Vekemans, M. Prieur, 2001, American journal of medical genetics.

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

J. Rosenfeld, Long Guo, J. Clayton-Smith, 2023, American journal of human genetics.

E. Chouery, A. Mégarbané, Vanda Yazbeck Karam, 2023, Genes.

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

E. Chouery, A. Mégarbané, J. Bleik, 2023, Genes.

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

E. Chouery, A. Mégarbané, J. Bleik, 2022, European journal of neurology.

Ophthalmo-acromelic syndrome (Waardenburg) with split hand and polydactyly.

A. Mégarbané, N. Souraty, J. Tamraz, 1998, Genetic counseling.

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

A. Mégarbané, N. Hajj, A. A. H. Zen, 2023, Frontiers in oncology.

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

A. Mégarbané, V. Cormier-Daire, 2001, American journal of medical genetics.

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

A. Mégarbané, M. le Merrer, K. el Kallab, 1997, Clinical dysmorphology.

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

A. Mégarbané, I. Ghanem, M. Merrer, 2003, American journal of medical genetics. Part A.

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

A. Mégarbané, 2007, American journal of medical genetics. Part A.

Factor XIII deficiency revealed by spontaneous intramedullary hemorrhage: confirmation of a severe mutation.

E. Chouery, A. Mégarbané, E. El Rassy, 2015, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

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

A. Mégarbané, R. Dietz, R. Harvey, 2009, Journal of Medical Genetics.

Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?

A. Mégarbané, M. Mezzina, C. Caillaud, 1999, Journal of medical genetics.

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

A. Mégarbané, R. Nabbout, E. Traboulsi, 1999, American journal of medical genetics.

[Autosomal dominant Mendelian midline complex. Secundum atrial septal defect associated with cardiac and facial-thoracic defects. A familial case].

A. Mégarbané, J. Loiselet, P. Bouvagnet, 2000, Archives des maladies du coeur et des vaisseaux.

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

A. Mégarbané, F. Brunner, M. Genčík, 2019, Molecular Syndromology.

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

A. Mégarbané, E. Traboulsi, H. Mégarbané, 2004, Ophthalmic Genetics.

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

A. Mégarbané, I. Ghanem, 2005, Clinical genetics.

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

A. Mégarbané, Mohamad Saad, C. A. Khalil, 2023, bioRxiv.

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

I. Jackson, R. Hennekam, H. Brunner, 2018, PLoS Genetics.

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

A. Mégarbané, N. Hokayem, 1998, American journal of medical genetics.

A second family with autosomal recessive spondylometaphyseal dysplasia and early death

A. Mégarbané, V. Cormier-Daire, C. Mehawej, 2014, American journal of medical genetics. Part A.