Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample-Reference-Cited by-同舟云学术

Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample

Published:2019-08-02 Issue:8 Volume:5 Page:
ISSN:2375-2548
Container-title:Science Advances
language:en
Short-container-title:Sci. Adv.

Author:

Movaghar Arezoo¹²^ORCID,Page David³^ORCID,Brilliant Murray⁴,Baker Mei Wang⁵,Greenberg Jan¹,Hong Jinkuk¹^ORCID,DaWalt Leann Smith¹,Saha Krishanu¹²^ORCID,Kuusisto Finn⁶^ORCID,Stewart Ron⁶,Berry-Kravis Elizabeth⁷^ORCID,Mailick Marsha R.¹^ORCID

Affiliation:

1. Waisman Center, University of Wisconsin–Madison, Madison, WI, USA.

2. Department of Biomedical Engineering, University of Wisconsin–Madison, Madison, WI, USA.

3. Department of Biostatistics and Medical Informatics, University of Wisconsin–Madison, Madison, WI, USA.

4. Marshfield Clinic Research Institute, Marshfield, WI, USA.

5. Wisconsin State Laboratory of Hygiene, Madison, WI, USA.

6. Morgridge Institute for Research, Madison, WI, USA.

7. Rush University Medical Center, Chicago, IL, USA.

Abstract

Population screening and double-blind phenotyping confirm unique clinical profile in FMR1 premutation carriers.

Funder

National Human Genome Research Institute

National Institute of Child Health and Human Development

National Center for Advancing Translational Sciences

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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