Publications
Le CRB BioJel participe à de nombreux projets de recherche.
En 2019, la biobanque a été cité dans six publications scientifiques :
- Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer’s disease-related dysregulation.
Haertle L, Müller T, Lardenoije R, Maierhofer A, Dittrich M, Riemens RJM, Stora S, Roche M, Leber M, Riedel-Heller S, Wagner M, Scherer M, Ravel A, Mircher C, Cieuta-Walti C, Durand S, van de Hove DLA, Hoffmann P, Ramirez A, Haaf T, El Hajj N, Mégarbané A.
Clin Epigenetics. 2019 Dec 16 - Further delineation of the trappc6b disorder: report on a new family and review.
Nair P, El-Bazzal L, Mansour H, Sabbagh S, Al-Ali MT, Gambarini A, Delague V, El-Hayek S, Mégarbané A.
J Pediatr Genet. 2019 Dec 8 - Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation.
Nair P, Sabbagh S, Bizzari S, Brunner F, Stora S, Al-Ali MT, Gencik M, El-Hayek S, Mégarbané A.
Mol Syndromol. 2019 Jul 10 - The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency.
Mansour H, Sabbagh S, Bizzari S, El-Hayek S, Chouery E, Gambarini A, Gencik M, Mégarbané A.
J Pediatr Genet. 2019 Sep 8 - COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?
Nair P, Lama M, El-Hayek S, Abou Sleymane G, Stora S, Obeid M, Al-Ali MT, Delague V, Mégarbané A.
Mol Syndromol. 2019 Jan 9 - Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial.
Mircher C, Sacco S, Bouis C, Gallard J, Pichot A, Le Galloudec E, Cieuta C, Marey I, Greiner-Mahler O, Dorison N, Gambarini A, Stora S, Durand S, Polak M, Baruchel A, Schlumberger E, Dewailly J, Azar-Kolakez A, Guéant-Rodriguez RM, Guéant JL, Borderie D, Bonnefont-Rousselot D, Blondiaux E, Ravel A, Sturtz FG.
Genet Med. Published: 08 July 2019PUBLICATIONS 2020
- 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, T Al-Ali M, Gambarini A., El-Hayek S.
Am J Med Genet A. – 23 january 2020 - Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3.
Bizzari S, El-Bazzal L, Nair P, Younan A, Stora S, Mehawej C, El-Hayek S, Delague V, Mégarbané A.
Eur J Med Genet. – 27 January 2020 - CNTNAP1 Mutations and Their Clinical Presentations: New Case – Report and Systematic Review
S. Sabbagh ,S. Antoun and A. Mégarbane
Hindawi – 27 March 2020 - Transcriptomic study in women with trisomy 21 identifes a possible role of the GTPases of the immunity-associated proteins (GIMAP) in the protection of breast cancer
A. Mégarbané, D. Piquemal, A.-S. Rebillat, S. Stora, F. Pierrat, R. Bruno, F. Noguier, C. Mircher, A. Ravel, M. Vilaire-Meunier, S. Durand, G. Lefranc
Scientific Reports – 10 Jun 2020
