898 top medical experts on Down Syndrome across 61 countries and 43 U.S. states, including 819 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Down Syndrome: A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe intellectual disability. Cardiac and gastrointestinal malformations, a marked increase in the incidence of leukemia, and the early onset of alzheimer disease are also associated with this condition. Pathologic features include the development of neurofibrillary tangles in neurons and the deposition of amyloid beta-protein, similar to the pathology of alzheimer disease. (Menkes, Textbook of Child Neurology, 5th ed, p213)
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Intellectual Disability (5,155), Chromosome Disorders (2,206), Multiple Abnormalities (3,208).
  4. Clinical Trials ClinicalTrials.gov : at least 273 including 15 Active, 150 Completed, 54 Recruiting
  5. Synonyms: Mongolism,  Trisomy 21


  

        

                    


    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, screen scraping or using the data) to identify the top medical experts for recruiting, advisory panels, boards, and consulting. Please contact us for licensing, customized queries, feedback and questions.

  1. Lott, Ira T   Neurodevelopmental Disabilities   Google Publications
    Department of Pediatrics, University of California, Irvine Medical Center, Orange, CA, USA.
    Physician  Highly Cited  Highly Published  Clinical Trial  Case Reports  Review 
    Relevant US NIH Grant Funding: $18,605,377 over the last 5 years
    Disclosed payments in 2021 from 3 biomedical companies, totalling $2.01, including $2.01 from  Travere Therapeutics, Inc.
    Subjects: Alzheimer Disease; Brain; Dementia; Aging; Cognition Disorders
    Categories: Metabolism; Pathology; Complications; Physiopathology; Blood; Etiology
    Dementia in Down syndrome: unique insights for Alzheimer disease research. (2019)
    Cognitive deficits and associated neurological complications in individuals with Down's syndrome. (2010)

  2. Mobley, William C   Neurology   Google Publications
    Department of Neuroscience, University of California, San Diego, San Diego. Top Hospital
    Physician  Highly Cited  Highly Published  Clinical Trial 
    Relevant US NIH Grant Funding: $10,220,536 over the last 5 years
    Disclosed payments from biomedical company (PFIZER INC.) in 2021 for $1,124
    Subjects: Cognition Disorders; Alzheimer Disease; Aging; Amyloid beta-Protein Precursor; Dentate Gyrus
    Categories: Metabolism; Genetics; Physiology; Pathology; Complications; Physiopathology
    Down syndrome and Alzheimer's disease: Common pathways, common goals. (2015)
    Loss of sorting nexin 27 contributes to excitatory synaptic dysfunction by modulating glutamate receptor recycling in Down's syndrome. (2013)

  3. Capone, George T   Pediatrics   Google Publications
    Kennedy Krieger Institute, 801 N Broadway, Baltimore, MD, 21205, USA.
    Physician  Highly Cited  Highly Published  Guideline  Clinical Trial  Case Reports  Review 
    Subjects: Heart Septal Defects; Autism Spectrum Disorder; Heart Defects, Congenital; Child Behavior Disorders; Child Development Disorders, Pervasive
    Categories: Epidemiology; Genetics; Diagnosis; Drug Therapy; Pathology; Statistics & Numerical Data
    Medical Care of Adults With Down Syndrome: A Clinical Guideline. (2020)
    Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. (2018)

  4. Santoro, Stephanie L   Pediatrics   ClinicalTrials.gov Google Publications
    Division of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, Massachusetts, USA. Top Hospital
    Physician  Highly Cited  Highly Published  Review 
    Relevant US NIH Grant Funding: $511,039 over the last 5 years
    Disclosed payments from biomedical company (AbbVie Inc.) in 2021 for $14.79
    Subjects: Hematologic Diseases; Intellectual Disability; Activities of Daily Living; Anemia, Iron-Deficiency; Autistic Disorder
    Categories: Epidemiology; Diagnosis; Complications; Psychology; Statistics & Numerical Data; Mortality
    Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. (2018)
    Pneumonia and respiratory infections in Down syndrome: A scoping review of the literature. (2021)

  5. Nicolaides, Kypros H   Google Publications
    Harris Birthright Research Centre for Fetal Medicine, London, UK.
    Scientist  Highly Cited  Highly Published  Clinical Trial 
    Subjects: Prenatal Diagnosis; Trisomy; Pregnancy Trimester, First; Maternal Serum Screening Tests; DNA
    Categories: Diagnosis; Methods; Diagnostic Imaging; Blood; Genetics; Embryology
    Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. (2017)
    Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. (2015)

  6. Sabbagh, Marwan N   Neurology   ClinicalTrials.gov Google Publications
    Barrow Neurological Institute, Phoenix, Arizona.
    Physician  Clinical Trial  Case Reports 
    Medical school: University of Arizona College of Medicine (MD, 1991)
    Medicare Accepted; Medicare MIPS (Merit-based Incentive Payment System) rating: 93/100
    Disclosed payments in 2021 from 27 biomedical companies, totalling $60,862.23, including $18,051.93 from  Biogen, Inc.
    Subjects: Alzheimer Disease; Brain; Amyloid beta-Peptides; Aniline Compounds; Cognition Disorders
    Categories: Metabolism; Diagnostic Imaging; Diagnosis; Pathology; Physiopathology; Blood
    Down syndrome and Alzheimer's disease: Common pathways, common goals. (2015)
    Neuronal exosomes reveal Alzheimer's disease biomarkers in Down syndrome. (2017)

  7. Nixon, Ralph A   Psychiatry   Google Publications
    Center for Dementia Research, Nathan Kline Institute, Orangeburg, NY, USA.
    Physician  Highly Cited 
    Relevant US NIH Grant Funding: $14,058,888 over the last 5 years
    Subjects: Alzheimer Disease; Amyloid beta-Protein Precursor; Endosomes; Amyloid Precursor Protein Secretases; Aspartic Acid Endopeptidases
    Categories: Metabolism; Pathology; Genetics; Physiology; Etiology; Physiopathology
    Down syndrome and Alzheimer's disease: Common pathways, common goals. (2015)
    Dysfunction of autophagy and endosomal-lysosomal pathways: Roles in pathogenesis of Down syndrome and Alzheimer's Disease. (2018)

  8. Taub, Jeffrey W   Pediatrics   ClinicalTrials.gov Google Publications
    Karmanos Cancer Institute-Wayne State University, Detroit, MI.
    Physician  Highly Published  Clinical Trial 
    Disclosed payments in 2021 from 3 biomedical companies, totalling $59.93, including $59.93 from  Takeda Pharmaceuticals U.S.A., Inc.
    Subjects: Leukemia, Myeloid, Acute; Leukemia, Megakaryoblastic, Acute; Cytarabine; Leukemia, Myeloid; Antineoplastic Combined Chemotherapy Protocols
    Categories: Genetics; Complications; Drug Therapy; Therapeutic Use; Administration & Dosage; Diagnosis
    Natural history of transient myeloproliferative disorder clinically diagnosed in Down syndrome neonates: a report from the Children's Oncology Group Study A2971. (2011)
    Mechanisms of Progression of Myeloid Preleukemia to Transformed Myeloid Leukemia in Children with Down Syndrome. (2019)

  9. Wisniewski, Thomas   Neurology  Google Publications
    Center for Cognitive Neurology, Departments of Neurology, Pathology and Psychiatry, NYU Grossman School of Medicine, New York, NY, 10016, USA.
    Physician 
    Relevant US NIH Grant Funding: $4,936,755 over the last 5 years
    Medical school: Other (MD, 1983)
    Medicare Accepted; Medicare MIPS (Merit-based Incentive Payment System) rating: 86/100
    Disclosed payments from biomedical company (Fresenius USA Marketing, Inc.) in 2021 for $249
    Subjects: Nerve Degeneration; Alzheimer Disease; Neurofibrillary Tangles; Aging; Amyloid beta-Peptides
    Categories: Pathology; Metabolism; Enzymology; Genetics; Physiopathology
    Down syndrome and Alzheimer's disease: Common pathways, common goals. (2015)
    Evolution of neuroinflammation across the lifespan of individuals with Down syndrome. (2020)

  10. Bianchi, Diana W   Neonatal-Perinatal Medicine   Google Publications
    Section on Prenatal Genomics and Fetal Therapy, Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.
    Physician  Highly Cited  Highly Published 
    Relevant US NIH Grant Funding: $5,740,507 over the last 5 years
    Subjects: Prenatal Diagnosis; Brain; Trisomy; Genetic Testing; Cognition Disorders
    Categories: Genetics; Diagnosis; Methods; Metabolism; Diagnostic Imaging; Drug Effects
    Down syndrome. (2020)
    DNA sequencing versus standard prenatal aneuploidy screening. (2014)

  11. Tycko, Benjamin   Anatomic Pathology   Google Publications
    Columbia University Irving Medical Center, Department of Pathology and Cell Biology, New York, NY, USA.
    Physician 
    Relevant US NIH Grant Funding: $5,192,152 over the last 5 years
    Subjects: Alzheimer Disease; Epigenesis, Genetic; Aneuploidy; DNA Methylation; Genetic Association Studies
    Categories: Genetics; Complications; Blood; Metabolism; Physiopathology; Epidemiology
    Down syndrome and Alzheimer's disease: Common pathways, common goals. (2015)
    Plasma Total-Tau and Neurofilament Light Chain as Diagnostic Biomarkers of Alzheimer's Disease Dementia and Mild Cognitive Impairment in Adults with Down Syndrome. (2021)

  12. Bull, Marilyn J   Developmental - Behavioral Pediatrics   Google Publications
    Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana.
    Physician  Highly Cited 
    Subjects: Sleep Apnea, Obstructive; Academies and Institutes; Biomedical Research; Chronic Disease; Deafness
    Categories: Epidemiology; Standards; Physiopathology; Complications; Diagnosis; Therapy
    Health supervision for children with Down syndrome. (2011)
    Clinical identification of feeding and swallowing disorders in 0-6 month old infants with Down syndrome. (2019)

  13. Gamis, Alan S   Pediatric Hematology-Oncology   ClinicalTrials.gov Google Publications
    Division of Hematology/Oncology/Bone Marrow Transplantation, Childrens Mercy Kansas City, Kansas City, MO.
    Physician  Clinical Trial 
    Medical school: University of Illinois College of Med (Chi/Peor/Rock/Chm-Urb) (MD, 1984)
    Medicare Accepted
    Disclosed payments in 2021 from 3 biomedical companies, totalling $138.62, including $113.62 from  JAZZ PHARMACEUTICALS INC.
    Subjects: Leukemia, Myeloid, Acute; Cytarabine; Leukemia, Myeloid; Antimetabolites, Antineoplastic; Leukemia, Megakaryoblastic, Acute
    Categories: Complications; Therapeutic Use; Drug Therapy; Etiology; Genetics; Diagnosis
    Natural history of transient myeloproliferative disorder clinically diagnosed in Down syndrome neonates: a report from the Children's Oncology Group Study A2971. (2011)
    Improved outcomes for myeloid leukemia of Down syndrome: a report from the Children's Oncology Group AAML0431 trial. (2017)

  14. Weiss, Mitchell J   Pediatric Hematology-Oncology  Google Publications
    Hematology Department, St. Jude Childrens Research Hospital, Memphis, TN 38105, USA.
    Physician 
    Disclosed payments from biomedical company (PFIZER INC.) in 2021 for $2,000
    Subjects: Cell Transformation, Neoplastic; Biomarkers, Tumor; Chromosomes, Human, Pair 21; Cytokine Receptor Common beta Subunit; DNA Methylation
    Categories: Genetics; Complications; Cytology; Embryology; Pathology; Physiology
    Mechanisms of Progression of Myeloid Preleukemia to Transformed Myeloid Leukemia in Children with Down Syndrome. (2019)
    Perturbation of fetal liver hematopoietic stem and progenitor cell development by trisomy 21. (2012)

  15. Pergament, Eugene   Molecular Genetic Pathology  Google Publications
    Northwestern Reproductive Genetics, Chicago, Illinois; Columbia University, New York, New York; and Natera Inc, San Carlos, California.
    Physician  Highly Cited 
    Subjects: Chromosome Disorders; Prenatal Diagnosis; Trisomy; DNA; Aneuploidy
    Categories: Diagnosis; Economics; Methods; Blood; Genetics; Metabolism
    Non-invasive prenatal testing for aneuploidy: current status and future prospects. (2013)
    Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. (2014)

  16. Head, Elizabeth   Google Publications
    Department of Pathology & Laboratory Medicine, University of California, Irvine, California, USA.
    Scientist  Highly Cited  Highly Published  Clinical Trial  Case Reports  Review 
    Relevant US NIH Grant Funding: $22,482,052 over the last 5 years
    Subjects: Alzheimer Disease; Brain; Frontal Lobe; Aging; Amyloid beta-Peptides
    Categories: Metabolism; Pathology; Complications; Etiology; Physiology; Blood
    Dementia in Down syndrome: unique insights for Alzheimer disease research. (2019)
    Aging in Down Syndrome and the Development of Alzheimer's Disease Neuropathology. (2016)

  17. Ances, Beau M   Neurology   Google Publications
    Department of Neurology, Washington University at St. Louis, St. Louis, MO, USA.
    Physician 
    Medical school: Perelman School of Med at the University of Pennsylvania (MD, 2001)
    Medicare Accepted; Medicare MIPS (Merit-based Incentive Payment System) rating: 84/100
    Disclosed payments from biomedical company (Eli Lilly and Company) in 2021 for $1,925
    Subjects: Alzheimer Disease; Amyloid beta-Peptides; Brain; Cognition; Cognitive Dysfunction
    Categories: Complications; Diagnostic Imaging; Blood; Cerebrospinal Fluid; Diagnosis; Psychology
    Plasma Total-Tau and Neurofilament Light Chain as Diagnostic Biomarkers of Alzheimer's Disease Dementia and Mild Cognitive Impairment in Adults with Down Syndrome. (2021)
    Comparison of CSF biomarkers in Down syndrome and autosomal dominant Alzheimer's disease: a cross-sectional study. (2021)

  18. Chou, Stella T   Pediatric Hematology-Oncology  Google Publications
    Division of Hematology, The Childrens Hospital of Philadelphia, Philadelphia, PA;
    Physician 
    Relevant US NIH Grant Funding: $4,083,010 over the last 5 years
    Medical school: New York Medical College (MD, 2000)
    Medicare Accepted
    Subjects: Cell Transformation, Neoplastic; DNA Methylation; Epigenesis, Genetic; Erythropoiesis; Hematopoiesis
    Categories: Genetics; Complications; Cytology; Embryology; Pathology; Physiology
    Perturbation of fetal liver hematopoietic stem and progenitor cell development by trisomy 21. (2012)
    Trisomy 21-associated defects in human primitive hematopoiesis revealed through induced pluripotent stem cells. (2012)

  19. Skotko, Brian G     Google Publications
    Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston. Top Hospital
    Physician  Highly Cited  Highly Published  Clinical Trial  Case Reports 
    Relevant US NIH Grant Funding: $1,756,345 over the last 5 years
    Subjects: Sleep Apnea, Obstructive; Electric Stimulation Therapy; Quality of Life; Cognitive Dysfunction; Face
    Categories: Epidemiology; Psychology; Complications; Physiopathology; Diagnosis; Diagnostic Imaging
    Down syndrome. (2020)
    Down syndrome: Cognitive and behavioral functioning across the lifespan. (2015)

  20. Cua, Clifford L   Pediatric Cardiology   Google Publications
    The Heart Center, Nationwide Childrens Hospital, Columbus, OH, USA.
    Physician 
    Medical school: Indiana University School of Medicine (MD, 1997)
    Medicare Accepted
    Disclosed payments in 2021 from 3 biomedical companies, totalling $6,000, including $6,000 from  ACADIA Pharmaceuticals Inc
    Subjects: Heart Septal Defects; Heart Defects, Congenital; DNA Copy Number Variations; Genome-Wide Association Study; Antigens, Neoplasm
    Categories: Genetics; Complications; Mortality; Blood; Epidemiology; Standards
    An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. (2012)
    Use of Electronic Health Record Integration for Down Syndrome Guidelines. (2018)

Note:
  1. 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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