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Akl Fahed, M.D.


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Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Fahed AC, Nemer G, Bitar FF, Arnaout S, Abchee AB, Batrawi M, Khalil A, Abou-Hassan O, DePalma SR, McDonough B, Arabi MT, Ware JS, Seidman JG, Seidman CE. Founder Mutation in N-terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy. Circ Genom Precis Med. 2020 Sep 04. PMID: 32885985.
  2. Fahed AC, Wang M, Homburger JR, Patel AP, Bick AG, Neben CL, Lai C, Brockman D, Philippakis A, Ellinor PT, Cassa CA, Lebo M, Ng K, Lander ES, Zhou AY, Kathiresan S, Khera AV. Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions. Nat Commun. 2020 08 20; 11(1):3635. PMID: 32820175.
  3. Patel AP, Wang M, Fahed AC, Mason-Suares H, Brockman D, Pelletier R, Amr S, Machini K, Hawley M, Witkowski L, Koch C, Philippakis A, Cassa CA, Ellinor PT, Kathiresan S, Ng K, Lebo M, Khera AV. Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History. JAMA Netw Open. 2020 Apr 01; 3(4):e203959. PMID: 32347951.
  4. Hariri H, Kurban M, Al-Haddad C, Fahed AC, Poladian S, Khalil A, Abbas O, Arabi M, Bitar F, Nemer G. Degenerated hair follicle cells and partial loss of sebaceous and eccrine glands in a familial case of axenfeld-rieger syndrome: An emerging role for the FOXC1/NFATC1 genetic axis. J Dermatol Sci. 2018 Dec; 92(3):237-244. PMID: 30514661.
    Citations:    Fields:    
  5. Weintraub WS, Fahed AC, Rumsfeld JS. Translational Medicine in the Era of Big Data and Machine Learning. Circ Res. 2018 11 09; 123(11):1202-1204. PMID: 30571466.
    Citations:    Fields:    
  6. Krishnamurthy Y, Stefanescu Schmidt AC, Bittner DO, Scholtz JE, Bui A, Reddy R, Youniss MA, Donohoe K, Flannery LD, Fahed AC, Ghoshhajra BB, DeFaria Yeh D, Bhatt AB. Subclinical Burden of Coronary Artery Calcium in Patients With Coarctation of the Aorta. Am J Cardiol. 2019 01 15; 123(2):323-328. PMID: 30424867.
    Citations:    Fields:    
  7. Kamar A, Fahed AC, Shibbani K, El-Hachem N, Bou-Slaiman S, Arabi M, Kurban M, Seidman JG, Seidman CE, Haidar R, Baydoun E, Nemer G, Bitar F. A Novel Role for CSRP1 in a Lebanese Family with Congenital Cardiac Defects. Front Genet. 2017; 8:217. PMID: 29326753.
  8. Flannery LD, Fahed AC, DeFaria Yeh D, Youniss MA, Barinsky GL, Stefanescu Schmidt AC, Benavidez OJ, Meigs JB, Bhatt AB. Frequency of Guideline-Based Statin Therapy in Adults With Congenital Heart Disease. Am J Cardiol. 2018 02 15; 121(4):485-490. PMID: 29268935.
    Citations:    Fields:    
  9. Fahed AC, Shibbani K, Andary RR, Arabi MT, Habib RH, Nguyen DD, Haddad FF, Moubarak E, Nemer G, Azar ST, Bitar FF. Premature Valvular Heart Disease in Homozygous Familial Hypercholesterolemia. Cholesterol. 2017; 2017:3685265. PMID: 28761763.
    Citations: 1     
  10. Saliba EC, Fahed AC. Yellow plaques on the hands of a 10-year-old girl. J Am Acad Dermatol. 2017 Jun; 76(6):e193-e194. PMID: 28522056.
  11. Refaat MM, Fahed AC, Hassanieh S, Hotait M, Arabi M, Skouri H, Seidman JG, Seidman CE, Bitar FF, Nemer G. The Muscle-Bound Heart. Card Electrophysiol Clin. 2016 Mar; 8(1):223-31. PMID: 26920199.
    Citations: 3     Fields:    Translation:Humans
  12. Fahed AC, Khalaf R, Salloum R, Andary RR, Safa R, El-Rassy I, Moubarak E, Azar ST, Bitar FF, Nemer G. Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy. Mol Genet Genomic Med. 2016 May; 4(3):283-91. PMID: 27247956.
    Citations: 1     Fields:    
  13. Kassab K, Hariri H, Gharibeh L, Fahed AC, Zein M, El-Rassy I, Nemer M, El-Rassi I, Bitar F, Nemer G. GATA5 mutation homozygosity linked to a double outlet right ventricle phenotype in a Lebanese patient. Mol Genet Genomic Med. 2016 Mar; 4(2):160-71. PMID: 27066509.
    Citations: 7     Fields:    
  14. Gharibeh L, El-Rassy I, Soubra A, Safa R, Fahed A, Tanos R, Arabi M, Kambris Z, Bitar F, Nemer G. A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy? J Genet. 2015 Jun; 94(2):309-12. PMID: 26174680.
    Citations:    Fields:    Translation:HumansCells
  15. Nazha B, Salloum RH, Fahed AC, Nabulsi M. Students' perceptions of peer-organized extra-curricular research course during medical school: a qualitative study. PLoS One. 2015; 10(3):e0119375. PMID: 25764441.
    Citations: 1     Fields:    Translation:Humans
  16. Abou Hassan OK, Fahed AC, Batrawi M, Arabi M, Refaat MM, DePalma SR, Seidman JG, Seidman CE, Bitar FF, Nemer GM. NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity. Sci Rep. 2015 Mar 06; 5:8848. PMID: 25742962.
    Citations: 9     Fields:    Translation:Humans
  17. Fahed AC, Nemer G, Bitar FF, Arnaout S, Abchee AB, Ware J, Batrawi M, DePalma SR, McDonough B, Arabi MT, Seidman JG, Seidman CE . Journal of the American College of Cardiology. The R21C Mutation in Troponin I has a Founder Effect in South Lebanon and Causes Malignant Hypertrophic Cardiomyopathy. 2015; 65(10S). View Publication.
  18. Kassab K, Hariri H, Fahed A, El-Rassi I, Bitar F, Nemer G. P329GATA5: a key player in congenital heart diseases. Cardiovasc Res. 2014 Jul 15; 103 Suppl 1:S59-60. PMID: 25020719.
  19. Hariri H, Farhat T, Khalaf R, Fahed A, Al-Haddad C, Arabi M, Bitar F, Nemer G. P569A novel role for NFATC1 in patients with both congenital heart disease and glaucoma. Cardiovasc Res. 2014 Jul 15; 103 Suppl 1:S102. PMID: 25020296.
  20. Fahed AC, McDonough B, Gouvion CM, Newell KL, Dure LS, Bebin M, Bick AG, Seidman JG, Harter DH, Seidman CE. UBQLN2 mutation causing heterogeneous X-linked dominant neurodegeneration. Ann Neurol. 2014 May; 75(5):793-798. PMID: 24771548.
    Citations: 8     Fields:    Translation:HumansCells
  21. Fahed AC, Roberts AE, Mital S, Lakdawala NK. Heart failure in congenital heart disease: a confluence of acquired and congenital. Heart Fail Clin. 2014 Jan; 10(1):219-27. PMID: 24275306.
    Citations: 4     Fields:    Translation:Humans
  22. Fahed AC, Habib RH, Nemer GM, Azar ST, Andary RR, Arabi MT, Moubarak EM, Bitar FF, Haddad FF. Low-density lipoprotein levels and not mutation status predict intima-media thickness in familial hypercholesterolemia. Ann Vasc Surg. 2014 Feb; 28(2):421-6. PMID: 24120234.
    Citations: 3     Fields:    Translation:Humans
  23. Shibbani K, Fahed AC, Al-Shaar L, Arabi M, Nemer G, Bitar F, Majdalani M. Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype. Clin Genet. 2014 Feb; 85(2):127-37. PMID: 23379544.
    Citations: 9     Fields:    Translation:HumansCells
  24. Fahed AC, Gelb BD, Seidman JG, Seidman CE. Genetics of congenital heart disease: the glass half empty. Circ Res. 2013 Feb 15; 112(4):707-20. PMID: 23410880.
    Citations: 109     Fields:    Translation:Humans
  25. Akl C. Fahed and Georges M. Nemer. "Mutations in Human Genetic Disease", edited by David N. Cooper and Jian-Min Chen. Genetic Causes of Syndromic and Non-Syndromic Congenital Heart Disease. 2012. View Publication.
  26. Fahed AC, Nonaka D, Kanofsky JA, Huang WC. Cystic mucinous tumors of the urachus: carcinoma in situ or adenoma of unknown malignant potential? Can J Urol. 2012 Jun; 19(3):6310-3. PMID: 22704322.
    Citations: 1     Fields:    Translation:Humans
  27. Fahed AC, Bitar FF, Khalaf RI, Moubarak EM, Azar ST, Nemer GM. The Lebanese allele at the LDLR in normocholesterolemic people merits reconsideration of genotype phenotype correlations in familial hypercholesterolemia. Endocrine. 2012 Oct; 42(2):445-8. PMID: 22487947.
    Citations: 2     Fields:    Translation:Humans
  28. Fahed AC, El-Hage-Sleiman AK, Farhat TI, Nemer GM. Diet, genetics, and disease: a focus on the middle East and north Africa region. J Nutr Metab. 2012; 2012:109037. PMID: 22536488.
    Citations: 16     
  29. Fahed AC, Nassar AH. Pregnancy in a woman with homozygous familial hypercholesterolemia not on low-density lipoprotein apheresis. AJP Rep. 2012 Nov; 2(1):33-6. PMID: 23946902.
    Citations: 1     
  30. Fahed AC, Gholmieh JM, Azar ST. Connecting the Lines between Hypogonadism and Atherosclerosis. Int J Endocrinol. 2012; 2012:793953. PMID: 22518131.
    Citations: 4     
  31. Fahed AC, Nemer GM. Familial hypercholesterolemia: the lipids or the genes? Nutr Metab (Lond). 2011 Apr 22; 8(1):23. PMID: 21513517.
    Citations: 14     
  32. Fahed AC, Safa RM, Haddad FF, Bitar FF, Andary RR, Arabi MT, Azar ST, Nemer G. Homozygous familial hypercholesterolemia in Lebanon: a genotype/phenotype correlation. Mol Genet Metab. 2011 Feb; 102(2):181-8. PMID: 21145767.
    Citations: 12     Fields:    Translation:Humans
  33. IBSAR. Wild Edible Plants: Promoting Dietary Diversity in Poor Communities of Lebanon. 2007. View Publication.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.