255 top medical experts on Blepharophimosis across 40 countries and 21 U.S. states, including 86 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Blepharophimosis: The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed)
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Eye Abnormalities (1,966).


  

        

                    


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  1. Graham, John M   Family Medicine  Google Publications
    Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.
    Physician  Case Reports 
    Medical school: Temple University School of Medicine (MD, 1998)
    Medicare MIPS (Merit-based Incentive Payment System) rating: 72/100
    Disclosed payments in 2021 from 3 biomedical companies, totalling $46.42, including $46.42 from  GlaxoSmithKline, LLC.
    Subjects: Abnormalities, Multiple; Arachnodactyly; Contracture; Arthrogryposis; Cleft Palate
    Categories: Genetics
    Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. (2014)
    Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome. (2021)

  2. Valle, David   Pediatrics  Google Publications
    Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA. Top Hospital
    Physician 
    Subjects: Abnormalities, Multiple; Arachnodactyly; Contracture; Corneal Diseases; Cornea
    Categories: Genetics; Diagnosis; Abnormalities
    Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion. (2014)
    Response to Biesecker et al. (2021)

  3. Lyons, Michael J   Anesthesiology  Google Publications
    Greenwood Genetic Center, South Carolina.
    Physician  Case Reports 
    Medical school: University of Minnesota Medical School (MD, 1990)
    Medicare Accepted
    Subjects: Abnormalities, Multiple; Blepharoptosis; Chromosome Deletion; Chromosomes, Human, Pair 3; Craniofacial Abnormalities
    Categories: Genetics
    Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum. (2015)
    Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion. (2014)

  5. Hamosh, Ada   Pediatrics   Google Publications
    Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA. Electronic address: . Top Hospital
    Physician 
    Response to Biesecker et al. (2021)

  6. Rasmussen, Sonja A   Pediatrics  Google Publications
    Departments of Pediatrics, Obstetrics and Gynecology, and Epidemiology, University of Florida College of Medicine and College of Public Health and Health Professions, Gainesville, FL 32610, USA. Top Hospital
    Physician 
    Response to Biesecker et al. (2021)

  7. Freitag, Suzanne K   Ophthalmology   Google Publications
    Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts. Electronic address: .
    Physician 
    Medical school: Jefferson Medical College of Thomas Jefferson University (MD, 1994)
    Medicare Accepted
    Disclosed payments in 2021 from 12 biomedical companies, totalling $14,510.61, including $13,762.22 from  Horizon Therapeutics plc
    Subjects: Lacrimal Apparatus
    Re: Duarte et al.: Lacrimal gland involvement in blepharophimosis-ptosis-epicanthus inversus syndrome (Ophthalmology. 2017;124:399-406). (2017)

  8. Grody, Wayne W   Molecular Genetic Pathology  Google Publications
    Departments of Pathology and Laboratory Medicine, Pediatrics, and Human Genetics, UCLA School of Medicine, Los Angeles, CA 90095, USA.
    Physician 
    Medical school: Baylor College of Medicine (MD, 1977)
    Medicare Accepted; Medicare MIPS (Merit-based Incentive Payment System) rating: 83/100
    Disclosed payments in 2021 from 3 biomedical companies, totalling $31.78, including $23 from  Novartis Pharmaceuticals Corporation
    Response to Biesecker et al. (2021)

  9. McMillin, Margaret J  Google Publications
    Department of Pediatrics, University of Washington, Seattle, WA 98195, USA. Top Hospital
    Scientist 
    Subjects: Abnormalities, Multiple; Arachnodactyly; Arthrogryposis; Cleft Palate; Clubfoot
    Categories: Genetics
    Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. (2014)

  10. Vulto-van, Silfhout Anneke T  Google Publications
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.
    Scientist 
    Subjects: Abnormalities, Multiple; Blepharoptosis; Genes, X-Linked; Heart Defects, Congenital; Intellectual Disability
    Categories: Genetics
    Mutations in MED12 cause X-linked Ohdo syndrome. (2013)

  11. Anastasio, Natascia  Google Publications
    Department of Human Genetics, McGill University, Montreal, Quebec H3A 1B1, Canada.
    Scientist 
    Subjects: Abnormalities, Multiple; Chromosomes, Human, Pair 22; Ethnicity; Musculoskeletal Abnormalities; Scavenger Receptors, Class F
    Categories: Genetics
    Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. (2010)

  12. Basel-Vanagaite, Lina   Google Publications
    Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva 49100, Israel.
    Scientist 
    Subjects: Blepharoptosis; Intellectual Disability; Ubiquitin-Protein Ligases
    Categories: Genetics
    Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. (2012)

  13. Bamshad, Michael J   Google Publications
    Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA. Top Hospital
    Scientist  Case Reports 
    Subjects: Abnormalities, Multiple; Arachnodactyly; Contracture; Arthrogryposis; Cleft Palate
    Categories: Genetics
    Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. (2014)
    Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome. (2021)

  14. Dietz, Harry C   Pediatrics  Google Publications
    Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA. Top Hospital
    Physician 
    Disclosed payments in 2021 from 12 biomedical companies, totalling $124,999.5, including $124,999.5 from  GlaxoSmithKline, LLC.
    Response to Biesecker et al. (2021)

  15. Lee, Brendan H   Pediatrics  Google Publications
    Physician 
    Disclosed payments from biomedical company (BioMarin Pharmaceutical Inc.) in 2021 for $8,662.5
    Subjects: Abnormalities, Multiple; Blepharoptosis; Craniofacial Abnormalities; Heart Defects, Congenital; Intellectual Disability
    Categories: Genetics; Enzymology
    The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. (2012)

  16. Gutman, Justin   Ophthalmology  Google Publications
    Physician 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 100/100
    Disclosed payments in 2021 from 3 biomedical companies, totalling $48.84, including $19.42 from  Alimera Sciences, Inc.
    Subjects: Oculomotor Muscles; Blepharoptosis; Eyelids; Ophthalmologic Surgical Procedures
    Categories: Surgery; Abnormalities; Physiopathology
    Complications of blepharoptosis surgery. (2012)

  17. Kleefstra, Tjitske  Google Publications
    Scientist  Case Reports 
    Subjects: Intellectual Disability; Abnormalities, Multiple; Blepharoptosis; Chromosome Deletion; Chromosomes, Human, Pair 3
    Categories: Genetics
    Mutations in MED12 cause X-linked Ohdo syndrome. (2013)
    Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions. (2011)

  18. Williams, Marc S   Family Medicine  Google Publications
    Genomic Medicine Institute, Geisinger Health System, Danville, PA 17822, USA.
    Physician 
    Medical school: Ohio State University College of Medicine (MD, 1987)
    Medicare Accepted
    Subjects: Abnormalities, Multiple; Arachnodactyly; Arthrogryposis; Cleft Palate; Clubfoot
    Categories: Genetics
    Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. (2014)

  19. Ali, Rehab  Google Publications
    Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
    Scientist  Case Reports 
    Subjects: Abnormalities, Multiple; Arachnodactyly; Chromosomes, Human, Pair 22; Ethnicity; Hand Deformities, Congenital
    Categories: Genetics; Abnormalities
    Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. (2010)
    Further delineation of the Van den Ende-Gupta syndrome. (2010)

  20. Aylsworth, Arthur S   Pediatrics  Google Publications
    Departments of Pediatrics and Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA. Top Hospital
    Physician 
    Subjects: Abnormalities, Multiple; Arachnodactyly; Arthrogryposis; Cleft Palate; Clubfoot
    Categories: Genetics
    Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. (2014)

Note:
  1. These experts have limited publications on this topic in our database, so expertise assessment may not be accurate.
  2. Only the top 20 experts are shown. You may filter your results or use the geolocation tabs. Contact us to purchase the entire list.
These expert listings are for individual use without a fee. Biotechs, Pharmaceuticals, Recruiters, Consultants, Investors, Law firms, and other organizations may use this only for quick evaluations (no downloads or screen scraping) to identify the top medical experts for recruiting, advisory panels, boards, and consulting. Please contact us for licensing, customized queries, feedback and questions.

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