Concepedia
Statistics
Publications
14
Citations
1.2K
H-Index
13
Active since
1999
Affiliations
National Institutes of Health(Current)
National Institute on Deafness and Other Communication Disorders
Harvard University
National Institutes of Health Clinical Center
National Human Genome Research Institute
Anne C. Madeo is an author at National Institutes of Health specializing in medicine, genetic epidemiology, and genetics.
Top concepts
MedicineGenetic EpidemiologyGeneticsPathogenesisArtsAudiologyPathologyEpidemiologyHearing LossPublic Health
Publications per year
1999–2017
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
William A. Gahl, Thomas C. Markello, Camilo Toro et al. · Genetics in Medicine · 2012 · 287 citations · Full text
Disease Diagnosis, Rare Diseases, Medicine +8
Modification of Human Hearing Loss by Plasma-Membrane Calcium Pump PMCA2
Julie M. Schultz, Yandan Yang, Ariel J. Caride et al. · New England Journal of Medicine · 2005 · 175 citations · Full text
Developmental Biology, Myosin Vi, Mendelian Disorder +14
Hypo-Functional<i>SLC26A4</i>variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms?
Byung Yoon Choi, Andrew K. Stewart, Anne C. Madeo et al. · Human Mutation · 2009 · 150 citations · Full text
Allelic hierarchy of <i>CDH23</i> mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes
Julie M. Schultz, Rashid Bhatti, Anne C. Madeo et al. · Journal of Medical Genetics · 2011 · 103 citations
A Mutation of<i>PCDH15</i>among Ashkenazi Jews with the Type 1 Usher Syndrome
Tamar Ben‐Yosef, Seth Ness, Anne C. Madeo et al. · New England Journal of Medicine · 2003 · 93 citations
Founder Mutation, Type 1, Genetic Disorder +8
1–5 of 14