Familial hypercholesterolaemia in children adolescents from 48 countries: a cross-sectional study

Lancet. 2024 Jan 6;403(10421):55-66.

2.   Yaghi N, El Hayeck R, Boulos C, Abifadel M, Yaghi C.

Effect of Mediterranean Dietary Pattern on Cognitive Status in Community-Dwelling Older Adults.

Nutrients. 2023 Sep 8;15(18):3911.

3.    Guillas I, Lhomme M, Pionneau C, Matheron L, Ponnaiah M, Galier S, Lebreton S, Delbos M, Ma F, Darabi M, Khoury PE, Abifadel M, Couvert P, Giral P, Lesnik P, Guerin M, Le Goff W, Kontush A.

Identification of the specific molecular functional signatures of pre-beta-HDL: relevance to cardiovascular disease.

Basic Res Cardiol. 2023 Aug 28;118(1):33.

4.   Bedlington N, Abifadel M, Beger B, Bourbon M, Bueno H, Ceska R, Cillíková K, Cimická Z, Daccord M, de Beaufort C, Dharmayat KI, Ference BA, Freiberger T, Geanta M, Gidding SS, Grošelj U, Halle M, Johnson N, Novakovic T, Májek O, Pallidis A, Peretti N, Pinto FJ, Ray KK, Rees B, Reeve J, Reiner Ž, Santos RD, Schunkert H, Šikonja J, Sokolovic M, Tokgözoglu L, Vrablík M, Wiegman A, Gutiérrez-Ibarluzea I.

The time is now: Achieving FH paediatric screening across Europe - The Prague Declaration.

GMS Health Innov Technol. 2022 Sep 30;16:Doc04.

5.   Abifadel M, Boileau C.

Genetic molecular architecture of familial hypercholesterolemia.

J Intern Med. 2023 Feb;293(2):144-165.

6.   Ayoub C, Azar Y, Maddah D, Ghaleb Y, Elbitar S, Abou-Khalil Y, Jambart S, Varret M, Boileau C, El Khoury P, Abifadel M.

Low circulating PCSK9 levels in LPL homozygous children with chylomicronemia syndrome in a syrian refugee family in Lebanon.

Front Genet. 2022 Aug 19;13:961028.

7.   Gannagé-Yared MH, Naous E, Al Achkar A, Issa W, Sleilaty G, Barakett-Hamade V, Abifadel M.

Lipid Parameters Proprotein Convertase Subtilisin/Kexin Type 9 in Healthy Lebanese Adults.

Metabolites. 2022 Jul 26;12(8):690.

8.   Azar Y, Gannagé-Yared MH, Naous E, Ayoub C, Abou Khalil Y, Chahine E, Elbitar S, Ghaleb Y, Boileau C, Varret M, El Khoury P, Abifadel M.

Circulating PCSK9 Linked to Dyslipidemia in Lebanese Schoolchildren.

Metabolites. 2022 May 31;12(6):504.

9.   Yaghi N, Boulos C, Baddoura R, Abifadel M, Yaghi C.

Validity reliability of a food frequency questionnaire for community dwelling older adults in a Mediterranean country: Lebanon.

Nutr J. 2022 Jun 18;21(1):40.

10.Abou Khalil Y, Marmontel O, Ferrières J, Paillard F, Yelnik C, Carreau V, Charrière S, Bruckert E, Gallo A, Giral P, Philippi A, Bluteau O, Boileau C, Abifadel M, Di-Filippo M, Carrié A, Rabès JP, Varret M.

APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia.

Int J Mol Sci. 2022 May 21;23(10):5792.

11.Ghaleb Y, Elbitar S, Philippi A, El Khoury P, Azar Y, Andrianirina M, Loste A, Abou-Khalil Y, Nicolas G, Le Borgne M, Moulin P, Di-Filippo M, Charrière S, Farnier M, Yelnick C, Carreau V, Ferrières J, Lecerf JM, Derksen A, Bernard G, Gauthier MS, Coulombe B, Lütjohann D, Fin B, Boland A, Olaso R, Deleuze JF, Rabès JP, Boileau C, Abifadel M, Varret M.

Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia.

Metabolites. 2022 Mar 18;12(3):262.

12.Abifadel MS, Rabès JH, Boileau CR

Genetic Testing in Familial Hypercholesterolemia: Strengthening the Tools, Reinforcing Efforts, and Diagnosis.

JACC Basic Transl Sci. 2021 Nov 22;6(11):831-833.

13.    Ayoub C, Azar Y, Abou-Khalil Y, Ghaleb Y, Elbitar S, Halaby G, Jambart S, Gannagé-Yared MH, Yaghi C, Saade Riachy C, El Khoury R, Rabès JP, Varret M, Boileau C, El Khoury P, Abifadel M.

Identification of a Variant in APOB Gene as a Major Cause of Hypobetalipoproteinemia in Lebanese Families.

Metabolites. 2021 Aug 24;11(9):564.

14.    Antonio J Vallejo-Vaz, 10 co-authors, Abifadel M, 710 co-authors, Lale Tokgozoglu, Alberico L Catapano, Kausik K Ray

Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC).

Lancet. 2021 Nov 6;398(10312):1713-1725. 

15.    Yaghi N, Yaghi C, Abifadel M, Boulos C, Feart C.

Dietary Patterns and Risk Factors of Frailty in Lebanese Older Adults.

Nutrients. 2021 Jun 25;13(7):2188.

16.    Ma F, Darabi M, Lhomme M, Tubeuf E, Canicio A, Brerault J, Medadje N, Rached F, Lebreton S, Frisdal E, Brites F, Serrano C, Santos R, Gautier E, Huby T, El Khoury P, Carrié A, Abifadel M, Bruckert E, Guerin M, Couvert P, Giral P, Lesnik P, Le Goff W, Guillas I, Kontush A

Phospholipid transfer to high-density lipoprotein (HDL) upon triglyceride lipolysis is directly correlated with HDL-cholesterol levels and is not associated with cardiovascular risk.

Atherosclerosis. 2021 May; 324:1-8.

17.    Elbitar S, Renard M, Arnaud P, Hanna N, Jacob MP, Guo DC, Tsutsui K, Gross MS, Kessler K, Tosolini L, Dattilo V, Dupont S, Jonquet J, Langeois M, Benarroch L, Aubart M, Ghaleb Y, Abou Khalil Y, Varret M, El Khoury P, Ho-Tin-Noé B, Alembik Y, Gaertner S, Isidor B, Gouya L, Milleron O, Sekiguchi K, Milewicz D, De Backer J, Le Goff C, Michel JB, Jondeau G, Sakai LY, Boileau C, Abifadel M

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm

Genet Med. 2021 Jan;23(1):111-122.

18.    El Khoury P, Couvert P, Elbitar S, Ghaleb Y, Abou-Khalil Y, Azar Y, Ayoub C, Superville A, Guérin M, Rabès JP, Varret M, Boileau C, Jambart S, Giral P, Carrié A, Le Goff W, Abifadel M.

Identification of the first Tangier disease patient in Lebanon carrying a new pathogenic variant in ABCA1.

J Clin Lipidol. 2018 Nov-Dec;12(6):1374-1382.

19.    EAS Familial Hypercholesterolaemia Studies Collaboration, Vallejo-Vaz AJ, 11 co-authors, Abifadel M,                     70 co-authors,  Ray KK; EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) Investigators.

Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC).

Atherosclerosis. 2018 Oct;277:234-255

20.    Extramiana F, Milleron O, Elbitar S, Uccellini A, Langeois M, Spentchian M, Delorme G, Arnoult F, Denjoy I, Bouleti C, Fressart V, Iserin F, Maison-Blanche P, Abifadel M, Leenhardt A, Boileau C, Jondeau G.

High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations.

Sci Rep. 2018 Aug 29;8(1):13019.

21.    Elbitar S, Susan-Resiga D, Ghaleb Y, El Khoury P, Peloso G, Stitziel N, Rabès JP, Carreau V, Hamelin J, Ben-Djoudi-Ouadda A, Bruckert E, Boileau C, Seidah NG, Varret M, Abifadel M.

New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.

Sci Rep. 2018 Jan 31;8(1):1943.

22.    Ghaleb Y, Elbitar S, El Khoury P, Bruckert E, Carreau V, Carrié A, Moulin P, Di-Filippo M, Charriere S, Iliozer H, Farnier M, Luc G, Rabès JP, Boileau C, Abifadel M, Varret M.

Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?

Eur J Hum Genet. 2018 Apr;26(4):570-578. 

23.    El Khoury P, Roussel R, Fumeron F, Abou-Khalil Y, Velho G, Mohammedi K, Jacob MP, Steg PG, Potier L, Ghaleb Y, Elbitar S, Ragot S, Andreata F, Caligiuri G, Hadjadj S, Boileau C, Marre M, Abifadel M, Varret M, Hansel B.

Plasma proprotein-convertase-subtilisin/kexin type 9 (PCSK9) and cardiovascular events in type 2 diabetes.

Diabetes Obes Metab. 2018 Apr;20(4):943-953

24.    El Khoury P, Elbitar S, Ghaleb Y, Khalil YA, Varret M, Boileau C, Abifadel M. 

PCSK9 Mutations in Familial Hypercholesterolemia: from a Groundbreaking Discovery to Anti-PCSK9 Therapies

Curr Atheroscler Rep. 2017 Oct 17;19(12):49.

25.    EAS Familial Hypercholesterolaemia Studies Collaboration, Vallejo-Vaz AJ, Akram A, Kondapally Seshasai SR, Cole D, Watts GF, Hovingh GK, Kastelein JJ, Mata P, Raal FJ, Santos RD, Soran H, Freiberger T, Abifadel M, Aguilar-Salinas CA, Alnouri F, Alonso R, Al-Rasadi K, Banach M, Bogsrud MP, Bourbon M, Bruckert E, Car J, Ceska R, Corral P, Descamps O, Dieplinger H, Do CT, Durst R, Ezhov MV, Fras Z, Gaita D, Gaspar IM, Genest J, Harada-Shiba M, Jiang L, Kayikcioglu M, Lam CS, Latkovskis G, Laufs U, Liberopoulos E, Lin J, Lin N, Maher V, Majano N, Marais AD, März W, Mirrakhimov E, Miserez AR, Mitchenko O, Nawawi H, Nilsson L, Nordestgaard BG, Paragh G, Petrulioniene Z, Pojskic B, Reiner Ž, Sahebkar A, Santos LE, Schunkert H, Shehab A, Slimane MN, Stoll M, Su TC, Susekov A, Tilney M, Tomlinson B, Tselepis AD, Vohnout B, Widén E, Yamashita S, Catapano AL, Ray KK.

Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration.

Atheroscler Suppl. 2016 Dec;22:1-32.

26.    Seidah NG, Abifadel M, Prost S, Boileau C, Prat A.

The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9.

Pharmacol Rev. 2017 Jan;69(1):33-52.

27.    Al Rasadi K, Almahmeed W, AlHabib KF, Abifadel M, Farhan HA, AlSifri S, Jambart S, Zubaid M, Awan Z, Al-Waili K, Barter P.

Dyslipidaemia in the Middle East: Current status and a call for action.

Atherosclerosis. 2016 Sep;252:182-7.

28.    Elbitar S, Khoury PE, Ghaleb Y, Rabès JP, Varret M, Seidah NG, Boileau C, Abifadel M.

Proprotein convertase subtilisin / kexin 9 (PCSK9) inhibitors and the future of dyslipidemia therapy: an updated patent review (2011-2015).

Expert Opin Ther Pat. 2016 Dec;26(12):1377-1392.

29.    Hopkins PN, Defesche J, Fouchier SW, Bruckert E, Luc G, Cariou B, Sjouke B, Leren TP, Harada-Shiba M, Mabuchi H, Rabès JP, Carrié A, van Heyningen C, Carreau V, Farnier M, Teoh YP, Bourbon M, Kawashiri MA, Nohara A, Soran H, Marais AD, Tada H, Abifadel M, Boileau C, Chanu B, Katsuda S, Kishimoto I, Lambert G, Makino H, Miyamoto Y, Pichelin M, Yagi K, Yamagishi M, Zair Y, Mellis S, Yancopoulos GD, Stahl N, Mendoza J, Du Y, Hamon S, Krempf M, Swergold GD.

Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody

Circulation, Cardiovascular Genetics. 2015 Dec;8(6):823-31.

30.    Vallejo-Vaz AJ, Kondapally Seshasai SR, Cole D, Hovingh GK, Kastelein JJ, Mata P, Raal FJ, Santos RD, Soran H, Watts GF, Abifadel M, Aguilar-Salinas CA, Akram A, Alnouri F, Alonso R, Al-Rasadi K, Banach M, Bogsrud MP, Bourbon M, Bruckert E, Car J, Corral P, Descamps O, Dieplinger H, Durst R, Freiberger T, Gaspar IM, Genest J, Harada-Shiba M, Jiang L, Kayikcioglu M, Lam CS, Latkovskis G, Laufs U, Liberopoulos E, Nilsson L, Nordestgaard BG, ODonoghue JM, Sahebkar A, Schunkert H, Shehab A, Stoll M, Su TC, Susekov A, Widén E, Catapano AL, Ray KK.

Familial hypercholesterolaemia: A global call to arms.

Atherosclerosis. 2015 Nov;243(1):257-9.

31.    Abifadel M, Ghaleb Y, Elbitar S, El Khoury P, Rabès JP, Varret M, Boileau C.

Les anti-PCSK9 dans la maladie coronarienne : progrès génétiques, pistes thérapeutiques.

La Revue du praticien, 2015; 65(3):326-7.

32.    Stitziel NO, Peloso GM, Abifadel M, Cefalù AB, Fouchier S, Motazacker MM, Tada H, Larach DB, Awan Z, Haller JF, Pullinger CR, Varret M, Rabès JP, Noto D, Tarugi P, Kawashiri MA, Nohara A, Yamagishi M, Risman M, Deo R, Ruel I, Shendure J, Nickerson DA, Wilson JG, Rich SS, Gupta N, Farlow DN, NHLBI Grand Opportunity Exome Sequencing Project Family Studies Project Team, Neale BM, Daly MJ, Kane JP, Freeman MW, Genest J, Rader DJ, Mabuchi H, Kastelein JJ, Hovingh GK, Averna MR, Gabriel S, Boileau C, Kathiresan S. 

Exome Sequencing in Suspected Monogenic Dyslipidemias.

Circulation, Cardiovascular Genetics. 2015 Apr;8(2):343-50.

33.    Aderayo Bamimore M, Zaid A, Banerjee Y, Al-Sarraf A, Abifadel M, Seidah N, Al-Waili K, Al-Rasadi K, Awan Z.

Familial Hypercholesterolemia Mutations in the Middle East and North Africa Region: A Need For A National Registry. 

Journal of Clinical Lipidology, 2015 Mar-Apr;9(2):187-194   

34.    Abifadel M, Ghaleb Y, Elbitar S, El Khoury P., M. Varret, C. Boileau

L’aventure de PCSK9

La Lettre du Cardiologue. N°495 – mai 2016

35.    Raal FJ, Honarpour N, Blom DJ, Hovingh GK, Xu F, Scott R, Wasserman SM, Stein EA; TESLA Investigators/ Collaborators : Descamps O, Gaudet D, Blaha V, Soska V, Zemek S, Bruckert E, Farnier M, Sampietro T, Jambart S, Abi-Fadel M, Hovingh GK, Blom D, Raal F, Fuentes Jimenez F, Karlezi RA, Vidal Pardo JI, Ginsberg H, Stein E, Turner T, Hennekens CH, Andreotti F, Baigent C, Brown WV, Davis B, Wiviott SD.

Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial.

Lancet. 2015 Jan 24;385(9965):341-50.

36.    Barbier M, Gross MS, Aubart M, Hanna N, Kessler K, Guo DC, Tosolini L, Ho-Tin-Noe B, Regalado E, Varret M, Abifadel M, Mileron O, Odent S, Dupuis-Girod S, Faivre L, Edouard T, Dulac Y, Busa T, Gouya L, Milewicz D, Jondeau G, Boileau C.

MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections.

The American Journal of Human Genetics, 2014; 95(6).       

37.    Slimani A, Hrira MY, Najah M, Jomaa W, Maatouk F, Ben Hamda K, Abifadel M, RabEs JP, Boileau C, Rouis M, Slimane MN, Varret M.

PCSK9 polymorphism in a Tunisian cohort: Identification of a new allele, L8, and association of allele L10 with reduced coronary heart disease risk.

Molecular and Cellular Probes, 2014; 29(1)   

38.    Abifadel M, Elbitar S, El Khoury P, Ghaleb Y, Chémaly M, Moussalli ML, Rabès JP, Varret M, Boileau C.

Living the PCSK9 Adventure: from the Identification of a New Gene in Familial Hypercholesterolemia Towards a Potential New Class of Anticholesterol Drugs.

Current Atherosclerosis Reports, 2014 Sep;16(9):439

39.    Pakradouni J, Le Goff W, Calmel C, Antoine B, Villard E, Frisdal E, Abifadel M, Tordjman J, Poitou C, Bonnefont-Rousselot D, Bittar R, Bruckert E, Clément K, Fève B, Martinerie C, Guérin M.

Plasma NOV/CCN3 levels are closely associated with obesity in patients with metabolic disorders.

PLoS One, 2013 13;8(6)         

40.    Marduel M, Ouguerram K, Serre V, Bonnefont-Rousselot D, Marques, Pinheiro A, Erik Berge K, Devillers M, Luc G, Lecerf JM, Tosolini L, Erlich D, Peloso GM, Stitziel N, Nitchké P, Jaïs JP; French Research Network on ADH, Abifadel M, Kathiresan S, Leren TP, Rabès JP, Boileau C, Varret M.

Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.

Human Mutation, 2013 Jan; 34(1):83-7.         

41.    Jelassi A, Slimani A, Rabès JP, Jguirim I, Abifadel M, Boileau C, Najah M, Mrabet S, Mzid J, Slimane MN, Varret M.

Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia.

Clinica Chimica Acta, 2012 Dec 24;414:146-51.         

42.    Abifadel M, Guérin M, Benjannet S, Rabès JP, Le Goff W, Julia Z, Hamelin J, Carreau V, Varret M, Bruckert E, Tosolini L, Meilhac O, Couvert P, Bonnefont-Rousselot D, Chapman J, Carrié A, Michel JB, Prat A, Seidah NG, Boileau C.

Identification and characterization of new Gain of function mutations in the PCSK9 gene responsible for Autosomal Dominant Hypercholesterolemia.

Atherosclerosis, 2012 Aug;223(2):394-400      

43.    Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, dIndy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, Abifadel M, Leal SM, Muti C, Shendure J, Gross MS, Rieder MJ, Vahanian A, Nickerson DA, Michel JB; National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project, Jondeau G, Milewicz DM.

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.

Nature Genetics, 2012 Jul 8;44(8):916-21.      

44.    Slimani A, Jelassi A, Jguirim I, Najah M, Rebhi L, Omezzine A, Maatouk F, Hamda KB, Kacem M, Rabès JP, Abifadel M, Boileau C, Rouis M, Slimane MN, Varret M.

Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients.

Atherosclerosis, 2012 May;222(1):158-66.      

45.    Essalmani R, Susan-Resiga D, Chamberland A, Abifadel M, Creemers JW, Boileau C, Seidah NG, Prat A.

In vivo evidence that furin from hepatocytes inactivates PCSK9.

The Journal of Biological Chemistry, 2011 Feb 11; 286(6):4257-63.   

46.    Georges A, Bonneau J, Bonnefont-Rousselot D, Champigneulle J, Rabes Jp, Abifadel M, Aparicio T, Guenedet Jc, Bruckert E, Boileau C, Morali A, Varret M, Aggerbeck Lp, Samson-Bouma Me.

Molecular analysis and intestinal expression of SAR1 genes and proteins in Andersons disease (Chylomicron retention disease).

Orphanet J Rare Dis. 2011 Jan 14;6:1.                                                 

47.    Marques-Pinheiro A, Marduel M, Rabès Jp, Devillers M, Villeger L, Allard D, Weissenbach J, Guérin M, Zair Y, Erlich D, Junien C, Munnich A, Krempf M, Abifadel M, Jaïs Jp, The French Research Network On Adh, Boileau C, Varret M.

A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1. 

European Journal of Human Genetics, 2010; 18(11) :1236-42.                                                                                    

48.    Abifadel M, Pakradouni J, Collin M, Samson-Bouma Me, Varret M, Rabès Jp, Boileau C.

Strategies for proprotein convertase subtilisin kexin 9 modulation: a perspective on recent patents. 

Expert Opin Ther Pat. 2010 Nov;20(11):1547-71.                                                                  

49.    Marduel M, Carrié A, Sassolas A, Devillers M, Carreau V, Di Filippo M, Erlich D, Abifadel M, Marques-Pinheiro A, Munnich A, Junien C; French Adh Research Network, Boileau C, Varret M, Rabès Jp.

Molecular spectrum of autosomal dominant hypercholesterolemia in France. 

Hum Mutat. 2010 Nov;31(11):E1811-24. 

50.    Marques- Pinheiro A, Levasseur R, Cormier C, Bonneau J, Boileau C, Varret M, Abifadel M, Allanore Y.

Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome.

Joint Bone Spine. 2010;77(2):151-3.

51.    Abifadel M, Rabès Jp, Jambart S, Halaby G, Gannage-Yared Mh, Sarkis A, Beaino G, Varret M, Salem N, Corbani S, Aydenian H, Junien C, Munnich A, Boileau C.

The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene. 

Hum Mutat. 2009;30(7):E682-91.                                                                              

52.    Abifadel M, Rabès JP, Devillers M, Munnich A, Erlich D, Junien C, Varret M, Boileau C.

Mutations and polymorphisms in the Proprotein Convertase Subtilisin Kexin 9 (PCSK9) gene in cholesterol metabolism and disease. 

Hum Mutat. 2009;30(4):520-9.                                                                                                     

53.    Abifadel M, Bernier L, Dubuc G, Nuel G, Rabès JP, Bonneau J, Marques A, Marduel M, Devillers M, Munnich A,  Erlich D, Varret M, Roy M, Davignon J, Boileau C.

A PCSK9 variant and familial combined hyperlipidemia

J Med Genet. 2008;45(12):780-6. 

54.    Varret M, Abifadel M, Rabès Jp, Boileau C.

Genetic heterogeneity of autosomal dominant hypercholesterolemia.  

Clinical Genetics 2008;73(1):1-13.

55.    Abifadel M, Rabès JP, Boileau C, Varret M.

Après le récepteur des LDL et l’apolipoprotéine B, l’hypercholestérolémie autosomique dominante révèle son 3^ème protagoniste : PCSK9

Annales Endocrinologie (Paris). 2007;68(2-3):138-46.

56.    Abifadel M, Rabès JP, Boileau C, Varret M.

PCSK9, du gène à la protéine : un nouvel acteur impliqué dans lhoméostasie du cholestérol.

Médecine Sciences (Paris). 2006;22(11):916-8.

57.    Allard D, Amsellem S, Abifadel M, Trillard M, Devillers M, Luc G, Krempf M, Reznik Y, Girardet Jp, Fredenrich A, Junien C, Varret M, Boileau C, Benlian P, Rabes JP.  

Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.

Human Mutation, 2005; 26(5):497. 

58.    Allard D, Abifadel M, Rabes JP, Varret M.

Genetic heterogeneity of Autosomal Dominant Hypercholesterolemia : PCSK9, a third gene involved in the disease.

Research Trends, 2005.

59.    Allard D, Abifadel M, Rabes JP, Varret M.

PC9, a new actor in Autosomal Dominant

Current Genomics 2005, 6 (7):535-543.

60.    Benjannet S, Rhainds D, Essalmani R, Mayne J, Wickham L, Jin W, Asselin Mc, Hamelin J, Varret M, Allard D, Trillard M, Abifadel M, Tebon A, Attie Ad, Rader Dj, Boileau C, Brissette L, Chretien M, Prat A, Seidah Ng.

NARC-1/PCSK9 and its natural mutants: zymogen cleavage and effects on the low density lipoprotein (LDL) receptor and LDL cholesterol.

Journal of Biological Chemistry, 2004, 279(47) : 48865-48875.

61.    Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Furukawa Y, Nakamura Y,Niikawa N, Boileau C, Matsumoto N.

Heterozygous TGFBR2 mutations in Marfan syndrome.

Nature Genetics, 2004, 36(8) : 855-860.                                                                      

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Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method.  

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