Harvard Catalyst Profiles

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Ibrahim Elsharkawi, Mb.Bch,Bao

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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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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Skotko BG, Garza Flores A, Elsharkawi I, Patsiogiannis V, McDonough ME, Verda D, Muselli M, Hornero R, Gozal D, Macklin EA. Validation of a predictive model for obstructive sleep apnea in people with Down syndrome. Am J Med Genet A. 2022 Nov 25. PMID: 36426646.
    Citations:    Fields:    
  2. Elsharkawi I, Wongkittichote P, Daniel EJP, Starosta RT, Ueda K, Ng BG, Freeze HH, He M, Shinawi M. DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype. J Inherit Metab Dis. 2022 Oct 10. PMID: 36214423.
    Citations:    Fields:    
  3. Said JT, Pithadia DJ, Snyder E, Elsharkawi I, Lin A, Lilly E. Dermatologic findings in individuals with Turner syndrome: A cross-sectional study across the lifespan. J Am Acad Dermatol. 2022 08; 87(2):476-479. PMID: 34688825.
    Citations:    Fields:    Translation:Humans
  4. Uguen K, Krysiak K, Audebert-Bellanger S, Redon S, Benech C, Viora-Dupont E, Tran Mau-Them F, Rondeau S, Elsharkawi I, Granadillo JL, Neidich J, Soares CA, Tkachenko N, M Amudhavalli S, Engleman K, Boland A, Deleuze JF, Bezieau S, Odent S, Toutain A, Bonneau D, Gilbert-Dussardier B, Faivre L, Rio M, Le Marechal C, Ferec C, Repnikova E, Cao Y. Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly. Clin Genet. 2021 10; 100(4):386-395. PMID: 34164801.
    Citations:    Fields:    Translation:Humans
  5. Kan SH, Elsharkawi I, Le SQ, Prill H, Mangini L, Cooper JD, Lawrence R, Sands MS, Crawford BE, Dickson PI. Biochemical evaluation of intracerebroventricular rhNAGLU-IGF2 enzyme replacement therapy in neonatal mice with Sanfilippo B syndrome. Mol Genet Metab. 2021 06; 133(2):185-192. PMID: 33839004; PMCID: PMC8195848.
    Citations: 1     Fields:    Translation:HumansAnimals
  6. Kitcharoensakkul M, Aluri J, Elsharkawi I, Steed A, Putnam CD, Swayampakula AK, Cooper MA, Bednarski JJ. A Case of Severe Combined Immunodeficiency Missed by Newborn Screening. J Clin Immunol. 2021 08; 41(6):1352-1355. PMID: 33712943; PMCID: PMC7954206.
    Citations: 1     Fields:    Translation:HumansPHPublic Health
  7. Chung J, Donelan K, Macklin EA, Schwartz A, Elsharkawi I, Torres A, Hsieh YG, Parker H, Lorenz S, Patsiogiannis V, Santoro SL, Wylie M, Clarke L, Estey G, Baker S, Bauer PE, Bull M, Chicoine B, Cullen S, Frey-Vogel A, Gallagher M, Hasan R, Lamb A, Majewski L, Mast J, Riddell T, Sepucha K, Skavlem M, Skotko BG. Correction: A randomized controlled trial of an online health tool about Down syndrome. Genet Med. 2021 Jan; 23(1):236. PMID: 33169000.
    Citations:    Fields:    
  8. Chung J, Donelan K, Macklin EA, Schwartz A, Elsharkawi I, Torres A, Hsieh YG, Parker H, Lorenz S, Patsiogiannis V, Santoro SL, Wylie M, Clarke L, Estey G, Baker S, Bauer PE, Bull M, Chicoine B, Cullen S, Frey-Vogel A, Gallagher M, Hasan R, Lamb A, Majewski L, Mast J, Riddell T, Sepucha K, Skavlem M, Skotko BG. A randomized controlled trial of an online health tool about Down syndrome. Genet Med. 2021 01; 23(1):163-173. PMID: 32879436.
    Citations: 5     Fields:    Translation:Humans
  9. Elsharkawi I, Parambath D, Saber-Ayad M, Khan AA, El-Serafi AT. Exploring the effect of epigenetic modifiers on developing insulin-secreting cells. Hum Cell. 2020 Jan; 33(1):1-9. PMID: 31755075.
    Citations: 9     Fields:    Translation:HumansCells
  10. Karaa A, Elsharkawi I, Clapp MA, Balcells C. Effects of mitochondrial disease/dysfunction on pregnancy: A retrospective study. Mitochondrion. 2019 05; 46:214-220. PMID: 29990538.
    Citations: 7     Fields:    Translation:Humans
  11. Jayaratne YSN, Elsharkawi I, Macklin EA, Voelz L, Weintraub G, Rosen D, Skotko BG. The facial morphology in Down syndrome: A 3D comparison of patients with and without obstructive sleep apnea. Am J Med Genet A. 2017 Nov; 173(11):3013-3021. PMID: 28815893; PMCID: PMC5650534.
    Citations: 4     Fields:    Translation:Humans
  12. Lavigne J, Sharr C, Elsharkawi I, Ozonoff A, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McDonough ME, Schwartz A, Berrier K, Sparks S, Stock-Guild K, Toler TL, Vellody K, Voelz L, Skotko BG. Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study. Am J Med Genet A. 2017 Jun; 173(6):1539-1545. PMID: 28332275.
    Citations: 7     Fields:    Translation:Humans
  13. Elsharkawi I, Gozal D, Macklin EA, Voelz L, Weintraub G, Skotko BG. Urinary biomarkers and obstructive sleep apnea in patients with Down syndrome. Sleep Med. 2017 Jun; 34:84-89. PMID: 28522103; PMCID: PMC5439300.
    Citations: 5     Fields:    Translation:Humans
  14. Sharr C, Lavigne J, Elsharkawi IM, Ozonoff A, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McDonough ME, Schwartz A, Berrier KL, Sparks S, Stock-Guild K, Toler TL, Vellody K, Voelz L, Skotko BG. Detecting celiac disease in patients with Down syndrome. Am J Med Genet A. 2016 12; 170(12):3098-3105. PMID: 27605215.
    Citations: 1     Fields:    Translation:Humans
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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.