Concepedia

Anne C. Madeo

AC

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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.

ORCID

Top concepts

Publications per year

1999–2017

14

Publications

14

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

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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

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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

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