Publications de l’UGM durant les cinq dernières années

1: Mehawej C, Hoischen A, Farah RA, Marey I, David M, Stora S, Lachlan K, Brunner HG, Megarbane A. Homozygous mutation in ELMO2 may cause Ramon syndrome. Clin Genet. 2017 Nov 2. doi: 10.1111/cge.13166.

2: Choucair N, Rajab M, Megarbane A, Chouery E. Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation. Am J Med Genet A. 2017 May 9. doi: 10.1002/ajmg.a.38271.

3: Jalkh N, Chouery E, Haidar Z, Khater C, Atallah D, Ali H, Marafie MJ, Al-Mulla MR, Al-Mulla F, Megarbane A. Next-generation sequencing in familial breast cancer patients from Lebanon. BMC Med Genomics. 2017 Feb 15;10(1):8. doi:10.1186/s12920-017-0244-7. PubMed PMID: 28202063; PubMed Central PMCID: PMC5312584.

4: Haidar Z, Temanni R, Chouery E, Jithesh P, Liu W, Al-Ali R, Wang E, Marincola FM, Jalkh N, Haddad S, Haidar W, Chouchane L, Megarbane A. Erratum to: Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome. BMC Genet. 2017 Feb 1;18(1):9. doi: 10.1186/s12863-017-0480-z. PubMed PMID: 28148224; PubMed Central PMCID: PMC5286771.

5: Haidar Z, Temanni R, Chouery E, Jithesh P, Liu W, Al-Ali R, Wang E, Marincola FM, Jalkh N, Haddad S, Haidar W, Chouchane L, Megarbane A. Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome. BMC Genet. 2017 Jan 19;18(1):3. doi: 10.1186/s12863-017-0471-0. Erratum in: BMC Genet. 2017 Feb 1;18(1):9. PubMed PMID: 28103792; PubMed Central PMCID: PMC5244738.

6: Hajj A, Chedid R, Chouery E, Megarbane A, Gannage-Yared MH. Relationship between vitamin D receptor gene polymorphisms, cardiovascular risk factors and adiponectin in a healthy young population. Pharmacogenomics. 2016 Oct;17(15):1675-1686. Epub 2016 Sep 27. PubMed PMID: 27672714.

7: Megarbane A, Al-Ali R, Choucair N, Lek M, Wang E, Ladjimi M, Rose CM, Hobeika R, Macary Y, Temanni R, Jithesh PV, Chouchane A, Sastry KS, Thomas R, Tomei S, Liu W, Marincola FM, MacArthur D, Chouchane L. Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity? BMC Med Genet. 2016 Jun 10;17(1):42. doi: 10.1186/s12881-016-0304-4. PubMed PMID: 27282200; PubMed Central PMCID: PMC4901505.

8: Romani M, Mehawej C, Mazza T, Megarbane A, Valente EM. "Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies. Neurol Genet. 2016 Mar 3;2(2):e61. doi: 10.1212/NXG.0000000000000061. eCollection 2016 Apr. PubMed PMID: 27123480; PubMed Central PMCID: PMC4830194.

9: Boyden SE, Desai A, Cruse G, Young ML, Bolan HC, Scott LM, Eisch AR, Long RD, Lee CC, Satorius CL, Pakstis AJ, Olivera A, Mullikin JC, Chouery E, Megarbane A, Medlej-Hashim M, Kidd KK, Kastner DL, Metcalfe DD, Komarow HD. Vibratory Urticaria Associated with a Missense Variant in ADGRE2. N Engl J Med. 2016 Feb 18;374(7):656-63. doi: 10.1056/NEJMoa1500611. Epub 2016 Feb 3. PubMed PMID: 26841242; PubMed Central PMCID: PMC4782791.

10: Yoon G, Delague V, Megarbane A, Isaya G. Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. Brain. 2016 Mar;139(Pt 3):e20. doi: 10.1093/brain/awv363. Epub 2015 Dec 10. PubMed PMID: 26657516

11: Ibrahim JN, Chouery E, Lecron JC, Megarbane A, Medlej-Hashim M. Study of the association of IL-1β and IL-1RA gene polymorphisms with occurrence and severity of Familial Mediterranean fever. Eur J Med Genet. 2015 Dec;58(12):668-73. doi: 10.1016/j.ejmg.2015.11.007. Epub 2015 Nov 14. PubMed PMID: 26585190.

12: Capo-Chichi JM, Mehawej C, Delague V, Caillaud C, Khneisser I, Hamdan FF, Michaud JL, Kibar Z, Megarbane A. Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay. Eur J Med Genet. 2015 Dec;58(12):637-41. doi: 10.1016/j.ejmg.2015.11.005. Epub 2015 Nov 11. Review. PubMed PMID: 26578240.

13: Jalkh N, Sahbatou M, Chouery E, Megarbane A, Leutenegger AL, Serre JL. Genome-wide inbreeding estimation within Lebanese communities using SNP arrays. Eur J Hum Genet. 2015 Oct;23(10):1434. doi: 10.1038/ejhg.2015.17. PubMed PMID: 26376682; PubMed Central PMCID: PMC4592097.

14: El Karak F, El Rassy E, Tabchi S, Chouery E, Megarbane A, Kattan J. Pseudo-Guillain-Barré syndrome masking acute myeloid leukemia relapse: Brief report and review. Leuk Res Rep. 2015 Jul 17;4(2):42-4. doi: 10.1016/j.lrr.2015.05.002. eCollection 2015. PubMed PMID: 26266094; PubMed Central PMCID: PMC4528047.

15: Alby C, Piquand K, Huber C, Megarbane A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessières B, El Chehadeh-Djebbar S, Laurent N, Faivre L, Sztriha L, Zombor M, Szabo H, Failler M, Garfa-Traore M, Bole C, Nitschké P, Nizon M, Elkhartoufi N, Clerget-Darpoux F, Munnich A, Lyonnet S, Vekemans M, Saunier S, Cormier-Daire V, Attié-Bitach T, Thomas S. Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. Am J Hum Genet. 2015 Aug 6;97(2):311-8. doi: 10.1016/j.ajhg.2015.06.003. Epub 2015 Jul 9. PubMed PMID: 26166481; PubMed Central PMCID: PMC4573270.

16: Choucair N, Abou Ghoch J, Fawaz A, Megarbane A, Chouery E. 10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies. Am J Med Genet A. 2015 Nov;167A(11):2707-13. doi: 10.1002/ajmg.a.37211. Epub 2015 Jun 26. PubMed PMID: 26114870.

17: Choucair N, Mignon-Ravix C, Cacciagli P, Abou Ghoch J, Fawaz A, Megarbane A,  Villard L, Chouery E. Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability. Mol Cytogenet. 2015 Jun 16;8:39. doi: 10.1186/s13039-015-0149-0. eCollection 2015. PubMed PMID: 26082802; PubMed Central PMCID: PMC4469107.

18: Farhat R, Puissesseau G, El-Seedy A, Pasquet MC, Adolphe C, Corbani S, Megarbane A, Kitzis A, Ladeveze V. 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. Biomed Res Int. 2015;2015:138103. doi: 10.1155/2015/138103. Epub 2015 May 17. PubMed PMID: 26075213; PubMed Central PMCID: PMC4449874.

19: Khneisser I, Adib S, Assaad S, Megarbane A, Karam P. Cost-benefit analysis: newborn screening for inborn errors of metabolism in Lebanon. J Med Screen. 2015 Dec;22(4):182-6. doi: 10.1177/0969141315590675. Epub 2015 Jun 10. PubMed PMID:26062758

20: Choucair N, Ghoch JA, Corbani S, Cacciagli P, Mignon-Ravix C, Salem N, Jalkh N, El Sabbagh S, Fawaz A, Ibrahim T, Villard L, Megarbane A, Chouery E. Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients. Mol Cytogenet. 2015 Apr 9;8:26. doi: 10.1186/s13039-015-0130-y. eCollection 2015. PubMed PMID: 25922617; PubMed Central PMCID: PMC4411788.

21: El Rassy E, Kourie HR, Antoun J, Chouery E, Megarbane A, Nasr F. Factor XIII  deficiency revealed by spontaneous intramedullary hemorrhage: confirmation of a severe mutation. Blood Coagul Fibrinolysis. 2015 Jul;26(5):586-7. doi: 10.1097/MBC.0000000000000297. PubMed PMID: 25828969.

22: Jobling RK, Assoum M, Gakh O, Blaser S, Raiman JA, Mignot C, Roze E, Durr A, Brice A, Lévy N, Prasad C, Paton T, Paterson AD, Roslin NM, Marshall CR, Desvignes JP, Roëckel-Trevisiol N, Scherer SW, Rouleau GA, Megarbane A, Isaya G, Delague V, Yoon G. PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. Brain. 2015 Jun;138(Pt 6):1505-17. doi: 10.1093/brain/awv057. Epub 2015 Mar 25. PubMed PMID: 25808372; PubMed Central PMCID: PMC4542620.

23: Engelhardt KR, Gertz ME, Keles S, Schäffer AA, Sigmund EC, Glocker C, Saghafi S, Pourpak Z, Ceja R, Sassi A, Graham LE, Massaad MJ, Mellouli F, Ben-Mustapha I, Khemiri M, Kilic SS, Etzioni A, Freeman AF, Thiel J, Schulze I, Al-Herz W, Metin  A, Sanal Ö, Tezcan I, Yeganeh M, Niehues T, Dueckers G, Weinspach S, Patiroglu T, Unal E, Dasouki M, Yilmaz M, Genel F, Aytekin C, Kutukculer N, Somer A, Kilic M,  Reisli I, Camcioglu Y, Gennery AR, Cant AJ, Jones A, Gaspar BH, Arkwright PD, Pietrogrande MC, Baz Z, Al-Tamemi S, Lougaris V, Lefranc G, Megarbane A, Boutros J, Galal N, Bejaoui M, Barbouche MR, Geha RS, Chatila TA, Grimbacher B. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2015 Aug;136(2):402-12. doi:
10.1016/j.jaci.2014.12.1945. Epub 2015 Feb 25. PubMed PMID: 25724123; PubMed Central PMCID: PMC4530066.

24: Reddy R, Fahiminiya S, El Zir E, Mansour A, Megarbane A, Majewski J, Slim R. Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing. PLoS One. 2014 Sep 11;9(9):e107326. doi: 10.1371/journal.pone.0107326. eCollection 2014. PubMed PMID: 25211151; PubMed Central PMCID: PMC4161397.

25: Gannagé-Yared MH, Makrythanasis P, Chouery E, Sobacchi C, Mehawej C, Santoni FA, Guipponi M, Antonarakis SE, Hamamy H, Megarbane A. Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia. Bone. 2014 Nov;68:142-5. doi: 10.1016/j.bone.2014.08.014. Epub 2014 Aug 30. PubMed PMID:25180662

26: Handley MT, Megarbane A, Meynert AM, Brown S, Freyer E, Taylor MS, Jackson IJ, Aligianis IA. 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. Mol Genet Genomic Med. 2014 Jul;2(4):319-25. doi: 10.1002/mgg3.70. Epub 2014 Mar 11. PubMed PMID: 25077174; PubMed Central PMCID:PMC4113272.

27: Ibrahim JN, Jounblat R, Delwail A, Abou-Ghoch J, Salem N, Chouery E, Megarbane A, Medlej-Hashim M, Lecron JC. 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. Cytokine. 2014 Oct;69(2):248-54. doi: 10.1016/j.cyto.2014.06.012. Epub 2014 Jul 12. PubMed PMID: 25025954

28: Thauvin-Robinet C, Lee JS, Lopez E, Herranz-Perez V, Shida T, Franco B, Jego L, Ye F, Pasquier L, Loget P, Gigot N, Aral B, Lopes CA, St-Onge J, Bruel AL, Thevenon J, González-Granero S, Alby C, Munnich A, Vekemans M, Huet F, Fry AM, Saunier S, Riviere JB, Attie-Bitach T, Garcia-Verdugo JM, Faivre L, Megarbane A,  Nachury MV. The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. Nat Genet. 2014 Aug;46(8):905-11. doi: 10.1038/ng.3031. Epub 2014 Jul 6. PubMed PMID: 24997988; PubMed Central PMCID: PMC4120243.

29: Mehawej C, Delahodde A, Legeai-Mallet L, Delague V, Kaci N, Desvignes JP, Kibar Z, Capo-Chichi JM, Chouery E, Munnich A, Cormier-Daire V, Megarbane A. The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia. PLoS Genet. 2014 May 1;10(5):e1004311. doi: 10.1371/journal.pgen.1004311. eCollection 2014 May. PubMed PMID: 24786642; PubMed Central PMCID: PMC4006740.

30: Patel N, Khan AO, Mansour A, Mohamed JY, Al-Assiri A, Haddad R, Jia X, Xiong Y, Megarbane A, Traboulsi EI, Alkuraya FS. Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome. Am J Hum Genet. 2014 May 1;94(5):755-9. doi: 10.1016/j.ajhg.2014.04.002. Epub 2014 Apr 24. PubMed PMID: 24768550; PubMed Central PMCID: PMC4067561.

31: Demurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quelin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbane A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue MA, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, Andre G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont ML, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet ML, Cormier-Daire V, Devisme L, Genevieve D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T. New insights into genotype-phenotype correlation for GLI3 mutations. Eur J Hum Genet. 2015 Jan;23(1):92-102. doi: 10.1038/ejhg.2014.62. Epub 2014 Apr 16. PubMed PMID: 24736735; PubMed Central PMCID: PMC4266745.

32: Megarbane A, Mehawej C, El Zahr A, Haddad S, Cormier-Daire V. A second family with autosomal recessive spondylometaphyseal dysplasia and early death. Am J Med Genet A. 2014 Apr;164A(4):1010-4. doi: 10.1002/ajmg.a.36372. Epub 2014 Jan 23. PubMed PMID: 24458487.

33: Janssen E, Tsitsikov E, Al-Herz W, Lefranc G, Megarbane A, Dasouki M, Bonilla FA, Chatila T, Schneider L, Geha RS. Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis. Clin Immunol. 2014 Feb;150(2):220-4. doi: 10.1016/j.clim.2013.12.006. Epub 2013 Dec 31. PubMed PMID: 24440647; PubMed Central PMCID: PMC3924424.

34: Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Züchner S, Muntoni F, Houlden H. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain. 2014 Jan;137(Pt 1):44-56. doi: 10.1093/brain/awt315. Epub 2013 Nov 19. PubMed PMID: 24253200; PubMed Central PMCID: PMC3891447.

35: Chouery E, Guissart C, Megarbane H, Aral B, Nassif C, Thauvin-Robinet C, Faivre L, Megarbane A. Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review. Eur J Med Genet. 2013 Dec;56(12):674-7. doi: 10.1016/j.ejmg.2013.09.012. Epub 2013 Oct 4. Review. PubMed PMID: 24095818.

36: Voigt C, Megarbane A, Neveling K, Czeschik JC, Albrecht B, Callewaert B, von Deimling F, Hehr A, Falkenberg Smeland M, Konig R, Kuechler A, Marcelis C, Puiu M, Reardon W, Riise Stensland HM, Schweiger B, Steehouwer M, Teller C, Martin M, Rahmann S, Hehr U, Brunner HG, Lüdecke HJ, Wieczorek D. Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies – expanding the phenotypes associated with EFTUD2 mutations. Orphanet J Rare Dis. 2013 Jul 24;8:110. doi: 10.1186/1750-1172-8-110. PubMed PMID: 23879989; PubMed Central PMCID: PMC3727992.

37: Sailani MR, Makrythanasis P, Valsesia A, Santoni FA, Deutsch S, Popadin K, Borel C, Migliavacca E, Sharp AJ, Duriaux Sail G, Falconnet E, Rabionet K, Serra-Juhé C, Vicari S, Laux D, Grattau Y, Dembour G, Megarbane A, Touraine R, Stora S, Kitsiou S, Fryssira H, Chatzisevastou-Loukidou C, Kanavakis E, Merla G, Bonnet D, Pérez-Jurado LA, Estivill X, Delabar JM, Antonarakis SE. The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome. Genome Res. 2013 Sep;23(9):1410-21. doi:
10.1101/gr.147991.112. Epub 2013 Jun 19. PubMed PMID: 23783273; PubMed Central PMCID: PMC3759718.

38: Jabara HH, Ohsumi T, Chou J, Massaad MJ, Benson H, Megarbane A, Chouery E, Mikhael R, Gorka O, Gewies A, Portales P, Nakayama T, Hosokawa H, Revy P, Herrod  H, Le Deist F, Lefranc G, Ruland J, Geha RS. A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. J Allergy Clin Immunol. 2013 Jul;132(1):151-8. doi: 10.1016/j.jaci.2013.04.047. Epub 2013 May 31. Erratum in: J Allergy Clin Immunol. 2013 Sep;132(3):773. J Allergy Clin Immunol. 2013 Sep;132(3):773. PubMed PMID: 23727036; PubMed Central PMCID: PMC3700575.

39: Kondo Y, Koshimizu E, Megarbane A, Hamanoue H, Okada I, Nishiyama K, Kodera H, Miyatake S, Tsurusaki Y, Nakashima M, Doi H, Miyake N, Saitsu H, Matsumoto N. Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies. Am J Med Genet A. 2013 Jul;161A(7):1543-6. doi: 10.1002/ajmg.a.35983. Epub 2013 May 23. PubMed PMID: 23703728

40: Chouery E, Choucair N, Abou Ghoch J, El Sabbagh S, Corbani S, Megarbane A.Report on a patient with a 12q24.31 microdeletion inherited from an insulin-dependent diabetes mellitus father. Mol Syndromol. 2013 Mar;4(3):136-42. doi: 10.1159/000346473. Epub 2013 Jan 15. PubMed PMID: 23653585; PubMed Central PMCID: PMC3638924.

41: Callier P, Aral B, Hanna N, Lambert S, Dindy H, Ragon C, Payet M, Collod-Beroud G, Carmignac V, Delrue MA, Goizet C, Philip N, Busa T, Dulac Y, Missotte I, Sznajer Y, Toutain A, Francannet C, Megarbane A, Julia S, Edouard T, Sarda P, Amiel J, Lyonnet S, Cormier-Daire V, Gilbert B, Jacquette A, Heron D, Collignon P, Lacombe D, Morice-Picard F, Jouk PS, Cusin V, Willems M, Sarrazin E, Amarof K, Coubes C, Addor MC, Journel H, Colin E, Khau Van Kien P, Baumann C, Leheup B, Martin-Coignard D, Doco-Fenzy M, Goldenberg A, Plessis G, Thevenon J, Pasquier L, Odent S, Vabres P, Huet F, Marle N, Mosca-Boidron AL, Mugneret F, Gauthier S, Binquet C, Thauvin-Robinet C, Jondeau G, Boileau C, Faivre L. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability. Clin Genet. 2013 Dec;84(6):507-21. doi: 10.1111/cge.12094. Epub 2013 Mar 18. PubMed PMID: 23506379.

42: Drévillon L, Megarbane A, Demeer B, Matar C, Benit P, Briand-Suleau A, Bodereau V, Ghoumid J, Nasser M, Decrouy X, Doco-Fenzy M, Rustin P, Gaillard D, Goossens M, Giurgea I. KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome. Hum Mol Genet. 2013 Jun 15;22(12):2387-99. doi: 10.1093/hmg/ddt083. Epub 2013 Feb 19. PubMed PMID: 23427148

43: Megarbane A, Noguier F, Stora S, Manchon L, Mircher C, Bruno R, Dorison N, Pierrat F, Rethoré MO, Trentin B, Ravel A, Morent M, Lefranc G, Piquemal D. The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ. Eur J Hum Genet. 2013 Nov;21(11):1253-9. doi: 10.1038/ejhg.2013.24. Epub 2013 Feb 20. PubMed PMID: 23422941; PubMed Central PMCID: PMC3798834.

44: Jalkh N, Guissart C, Chouery E, Yammine T, El Ali N, Farah HA, Megarbane A. Report of a novel mutation in CRB1 in a Lebanese family presenting retinal dystrophy. Ophthalmic Genet. 2014 Mar;35(1):57-62. doi: 10.3109/13816810.2013.763995. Epub 2013 Jan 30. PubMed PMID: 23362850.

45: Bornholdt D, Atkinson TP, Bouadjar B, Catteau B, Cox H, De Silva D, Fischer J, Gunasekera CN, Hadj-Rabia S, Happle R, Holder-Espinasse M, Kaminski E, Konig A, Megarbane A, Megarbane H, Neidel U, Oeffner F, Oji V, Theos A, Traupe H, Vahlquist A, van Bon BW, Virtanen M, Grzeschik KH. Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2. Hum Mutat. 2013 Apr;34(4):587-94. doi: 10.1002/humu.22275. Epub 2013 Mar 8. PubMed PMID: 23316014.

46: Perrault I, Estrada-Cuzcano A, Lopez I, Kohl S, Li S, Testa F, Zekveld-Vroon R, Wang X, Pomares E, Andorf J, Aboussair N, Banfi S, Delphin N, den Hollander AI, Edelson C, Florijn R, Jean-Pierre M, Leowski C, Megarbane A, Villanueva C, Flores B, Munnich A, Ren H, Zobor D, Bergen A, Chen R, Cremers FP, Gonzalez-Duarte R, Koenekoop RK, Simonelli F, Stone E, Wissinger B, Zhang Q, Kaplan J, Rozet JM. Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate
the associated phenotype. PLoS One. 2013;8(1):e51622. doi: 10.1371/journal.pone.0051622. Epub 2013 Jan 7. PubMed PMID: 23308101; PubMed Central PMCID: PMC3538699.

47: Dieterich K, Quijano-Roy S, Monnier N, Zhou J, Fauré J, Smirnow DA, Carlier R, Laroche C, Marcorelles P, Mercier S, Megarbane A, Odent S, Romero N, Sternberg D, Marty I, Estournet B, Jouk PS, Melki J, Lunardi J. The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. Hum Mol Genet. 2013 Apr 15;22(8):1483-92. doi: 10.1093/hmg/dds514. Epub 2012 Dec 11. PubMed PMID: 23236030.

48: Megarbane A, Pangrazio A, Villa A, Chouery E, Maarawi J, Sabbagh S, Lefranc G, Sobacchi C. Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia. Eur J Med Genet. 2013 Jan;56(1):32-5. doi: 10.1016/j.ejmg.2012.10.010. Epub 2012 Oct 31. PubMed PMID: 23123320.

49: Gannage-Yared MH, Klammt J, Chouery E, Corbani S, Megarbane H, Abou Ghoch J,  Choucair N, Pfaffle R, Megarbane A. Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations. Eur J Endocrinol. 2012 Dec 10;168(1):K1-7. doi: 10.1530/EJE-12-0701. Print 2013 Jan. PubMed PMID: 23045302.

50: Capo-Chichi JM, Bharti SK, Sommers JA, Yammine T, Chouery E, Patry L, Rouleau GA, Samuels ME, Hamdan FF, Michaud JL, Brosh RM Jr, Megarbane A, Kibar Z. Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome. Hum Mutat. 2013 Jan;34(1):103-7. doi: 10.1002/humu.22226. Epub 2012 Oct 17. PubMed PMID: 23033317; PubMed Central PMCID: PMC4599780.

51: Ripoll C, Rivals I, Ait Yahya-Graison E, Dauphinot L, Paly E, Mircher C, Ravel A, Grattau Y, Blehaut H, Megarbane A, Dembour G, de Freminville B, Touraine R, Creau N, Potier MC, Delabar JM. Molecular signatures of cardiac defects in Down syndrome lymphoblastoid cell lines suggest altered ciliome and Hedgehog pathways. PLoS One. 2012;7(8):e41616. doi: 10.1371/journal.pone.0041616. Epub 2012 Aug 9. PubMed PMID: 22912673; PubMed Central PMCID: PMC3415405.

52: Chou J, Hanna-Wakim R, Tirosh I, Kane J, Fraulino D, Lee YN, Ghanem S, Mahfouz I, Megarbane A, Lefranc G, Inati A, Dbaibo G, Giliani S, Notarangelo LD, Geha RS, Massaad MJ. A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome. J Allergy Clin Immunol. 2012 Dec;130(6):1414-6. doi: 10.1016/j.jaci.2012.06.012. Epub 2012 Jul 25. PubMed PMID: 22841008; PubMed Central PMCID: PMC3511613.

53: Terhal PA, van Dommelen P, Le Merrer M, Zankl A, Simon ME, Smithson SF, Marcelis C, Kerr B, Kinning E, Mansour S, Hennekam RC, van der Hout AH, Cormier-Daire V, Lund AM, Goodwin L, Megarbane A, Lees M, Betz RC, Tobias ES, Coucke P, Mortier GR. Mutation-based growth charts for SEDC and other COL2A1 related dysplasias. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):205-16. doi: 10.1002/ajmg.c.31332. Epub 2012 Jul 12. PubMed PMID: 22791362.

54: Johnson JO, Gibbs JR, Megarbane A, Urtizberea JA, Hernandez DG, Foley AR, Arepalli S, Pandraud A, Simón-Sánchez J, Clayton P, Reilly MM, Muntoni F, Abramzon Y, Houlden H, Singleton AB. Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain. 2012 Sep;135(Pt 9):2875-82. doi: 10.1093/brain/aws161. Epub 2012 Jun 26. PubMed PMID: 22740598; PubMed Central PMCID: PMC3437022.

55: Baudot C, Esteve C, Castro C, Poitelon Y, Mas C, Hamadouche T, El-Rajab M, Levy N, Megarbane A, Delague V. Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H). J Peripher Nerv Syst. 2012 Jun;17(2):141-6. doi: 10.1111/j.1529-8027.2012.00405.x. PubMed PMID: 22734899.

56: Jalkh N, Nassar-Slaba J, Chouery E, Salem N, Uhrchammer N, Golmard L, Stoppa-Lyonnet D, Bignon YJ, Megarbane A. Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon. Hered Cancer Clin Pract. 2012 Jun 19;10(1):7. doi: 10.1186/1897-4287-10-7. PubMed PMID: 22713736; PubMed Central PMCID: PMC3441239.

57: Cliffe ST, Bloch DB, Suryani S, Kamsteeg EJ, Avery DT, Palendira U, Church JA, Wainstein BK, Trizzino A, Lefranc G, Akatcherian C, Megarbane A, Gilissen C, Moshous D, Reichenbach J, Misbah S, Salzer U, Abinun M, Ong PY, Stepensky P, Ruga E, Ziegler JB, Wong M, Tangye SG, Lindeman R, Buckley MF, Roscioli T. Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome. J Allergy Clin Immunol. 2012 Sep;130(3):735-742.e6. doi: 10.1016/j.jaci.2012.02.054. Epub 2012 May 21. PubMed PMID: 22621957.

58: Haddad NM, Waked N, Bejjani R, Khoueir Z, Chouery E, Corbani S, Megarbane A.  Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: report on a novel mutation. Mol Vis. 2012;18:1182-8. Epub 2012 May 5. PubMed PMID: 22605929; PubMed Central PMCID: PMC3351416.

59: Megarbane A, Hanna N, Chouery E, Jalkh N, Mehawej C, Boileau C. Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: a new collagenopathy? Am J Med Genet A. 2012 May;158A(5):1185-9. doi: 10.1002/ajmg.a.35279. Epub 2012 Apr 9. PubMed PMID: 22489068.

60: Lana E, Megarbane A, Tourriere H, Sarda P, Lefranc G, Claustres M, De Sario A. DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations. Eur J Hum Genet. 2012 Oct;20(10):1044-50. doi: 10.1038/ejhg.2012.41. Epub 2012 Feb 29. PubMed PMID: 22378288; PubMed Central PMCID: PMC3449075.

61: Maalouf D, Megarbane H, Chouery E, Nasr J, Badens C, Lacoste C, Grzeschik KH, Megarbane A. A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia. Arch Dermatol. 2012 Jan;148(1):85-8. doi: 10.1001/archdermatol.2011.343. PubMed PMID: 22250236.