IbrahimMagdiElsharkawiMD

PubMed

• Validation of a predictive model for obstructive sleep apnea in people with Down syndrome.
  Brian G Skotko, Alexandra Garza Flores, Ibrahim Elsharkawi, Vasiliki Patsiogiannis, Mary Ellen McDonough, Damiano Verda, Marco Muselli, Roberto Hornero, David Gozal, E...> ;American Journal of Medical Genetics. Part A. 2023 Feb 1
• 2 citations
  DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype.
  Ibrahim Elsharkawi, Parith Wongkittichote, Earnest James Paul Daniel, Rodrigo Tzovenos Starosta, Keisuke Ueda, Bobby G Ng, Hudson H Freeze, Miao He, Marwan Shinawi> ;Journal of Inherited Metabolic Disease. 2023 Jan 1
• 2 citations
  Dermatologic findings in individuals with Turner syndrome: A cross-sectional study across the lifespan.
  Jordan T. Said, Deeti J. Pithadia, Emma A Snyder, Ibrahim Elsharkawi, Angela E. Lin, Evelyn Lilly> ;Journal of the American Academy of Dermatology. 2021 Oct 22
• 3 citations
  Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly
  Kévin Uguen, Kilannin Krysiak, Séverine Audebert-Bellanger, Sylvia Redon, Caroline Benech, Eléonore Viora-Dupont, Frédéric Tran Mau-Them, Sophie Rondeau, Ibrahim Elsha...> ;Clinical Genetics. 2021 Jun 24
• 1 citations
  Biochemical evaluation of intracerebroventricular rhNAGLU-IGF2 enzyme replacement therapy in neonatal mice with Sanfilippo B syndrome
  Shih-hsin Kan, Ibrahim Elsharkawi, Steven Q. Le, Heather Prill, Linley Mangini, Jonathan D. Cooper, Roger Lawrence, Mark S. Sands, Brett E. Crawford, Patricia I. Dickson> ;Molecular Genetics and Metabolism. 2021 Mar 31
• 3 citations
  A Case of Severe Combined Immunodeficiency Missed by Newborn Screening.
  Maleewan Kitcharoensakkul, Jahnavi Aluri, Ibrahim Elsharkawi, Ashley Steed, Christopher D. Putnam, Anil Kumar Swayampakula, Megan A. Cooper, Jeffrey J. Bednarski> ;Journal of Clinical Immunology. 2021 Mar 12
• 7 citations
  Correction: A randomized controlled trial of an online health tool about Down syndrome.
  Jeanhee Chung, Karen Donelan, Eric A. Macklin, Alison Schwartz, Ibrahim Elsharkawi, Amy Torres, Yichuan Grace Hsieh, Holly A. Parker, Stephen Lorenz, Vasiliki Patsiogi...> ;Genetics in Medicine. 2021 Jan 1
• 11 citations
  A randomized controlled trial of an online health tool about Down syndrome.
  Jeanhee Chung, Karen Donelan, Eric A. Macklin, Alison Schwartz, Ibrahim Elsharkawi, Amy Torres, Yichuan Grace Hsieh, Holly A. Parker, Stephen Lorenz, Vasiliki Patsiogi...> ;Genetics in Medicine. 2021 Jan 1
• 17 citations
  Exploring the effect of epigenetic modifiers on developing insulin-secreting cells
  Ibrahim Elsharkawi, Divyasree Parambath, Maha Saber-Ayad, Amir Ali Khan, Ahmed T. El-Serafi> ;Human Cell. 2020 Jan 1
• 16 citations
  Effects of mitochondrial disease/dysfunction on pregnancy: A retrospective study.
  Amel Karaa, Ibrahim Elsharkawi, Mark A. Clapp, Cristy Balcells> ;Mitochondrion. 2019 May 1
• 12 citations
  The facial morphology in Down syndrome: A 3D comparison of patients with and without obstructive sleep apnea.
  Yasas S. N. Jayaratne, Ibrahim Elsharkawi, Eric A. Macklin, Lauren Voelz, Gil S. Weintraub, Dennis Rosen, Brian G. Skotko> ;American Journal of Medical Genetics. Part A. 2017 Aug 17
• 10 citations
  Urinary biomarkers and obstructive sleep apnea in patients with Down syndrome.
  Ibrahim Elsharkawi, David Gozal, Eric A. Macklin, Lauren Voelz, Gil S. Weintraub, Brian G. Skotko> ;Sleep Medicine. 2017 Jun 1
• 22 citations
  Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study.
  Jenifer Lavigne, Christianne Sharr, Ibrahim Elsharkawi, Al Ozonoff, Nicole Bäumer, Campbell Brasington, Sheila Cannon, Blythe G. Crissman, Emily Davidson, Jose C. Flor...> ;American Journal of Medical Genetics. Part A. 2017 Jun 1
• 11 citations
  Detecting celiac disease in patients with Down syndrome
  Christianne Sharr, Jenifer Lavigne, Ibrahim Elsharkawi, Al Ozonoff, Nicole Bäumer, Campbell Brasington, Sheila Cannon, Blythe G. Crissman, Emily Davidson, Jose C. Flor...> ;American Journal of Medical Genetics. Part A. 2016 Dec 1
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Journal Articles

• The Facial Morphology in Down Syndrome: A 3D Comparison of Patients With and Without Obstructive Sleep Apnea  
  Jayaratne YSN, Elsharkawi I, Macklin EA, Voelz L, Weintraub G, Rosen D, Skotko BG, American Journal of Medical Genetics Part A, 1/1/2017
• Thyroid Dysfunction in Patients with Down syndrome: Results from a Multi-institutional Registry Study  
  Jenifer Lavigne, Christianne Sharr,, Ibrahim M.A. Elsharkawi, Al Ozonoff, Nicole Baumer, Campbell Brasington, Sheila Cannon, Blythe Crissman, Emily Davidson, Jose C. F..., American Journal of Medical Genetics Part A, 1/1/2017
• Detecting�celiac�disease in patients with Down syndrome  
  Sharr C,�Lavigne J,�Elsharkawi IMA,�Ozonoff A,�Baumer N,�Brasington C,�Cannon S,�Crissman B,�Davidson E,�Florez JC,�Kishnani P,�Lombardo A,�Lyerly J,�McDonough ME,�Sch..., American Journal of Medical Genetics Part A, 1/1/2016

Books/Book Chapters

• The SAGE Encyclopedia of Intellectual and Developmental Disorders 
  Chapter: Pitt-Hopkins Syndrome 
  Sweetser DA, Thibert RL, Elsharkawi IEditors: Braaten, Ellen.SAGE Publications, Inc.2017
• The SAGE Encyclopedia of Intellectual and Developmental Disorders 
  Chapter: Genetics Research 
  Kara A, Elsharkawi IEditors: Braaten, Ellen.SAGE Publications, Inc.2017
• The SAGE Encyclopedia of Intellectual and Developmental Disorders 
  Chapter: Phenotypes 
  Kara A, Elsharkawi IEditors: Braaten, Ellen.SAGE Publications, Inc.2017
• The SAGE Encyclopedia of Intellectual and Developmental Disorders 
  Chapter: Spina Bifida 
  Sweetser DA, Elsharkawi IEditors: Braaten, Ellen.SAGE Publications, Inc.2017
• GeneReview Pitt-Hopkins Syndrome 
  Chapter: Pitt-Hopkins Syndrome 
  Sweetser DA, El Sharkawi I, Yonker L, et alEditors: Adam MP, Ardinger HH, Pagon RA, et al.University of Washington, Seattle, WA2012
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Abstracts/Posters

• Retrospective survey on the effect of pregnancy in females with mitochondrial disease
  Ibrahim Elsharkawi, Cristy Balcell, Amel Karaa, United Mitochondrial Disease Foundation annual symposium, Seattle, WA, 1/1/2016

Lectures

• Research Updates from the MGH Down Syndrome Program: Virtual Clinic and International Registry 
  1/19/2017
• Research Updates from the MGH Down Syndrome Program 
  1/9/2017
• Dermatology in Turner Syndrome 
  1/18/2016