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SCHOLARLY PAPERS

2

DOWNLOADS

214

TOTAL CITATIONS

0

Scholarly Papers (2)

1.

The Association of a Polygenic Risk Score with Diagnosis and Mortality in Idiopathic Pulmonary Fibrosis

Number of pages: 30 Posted: 24 Jul 2025
Harvard University - Brigham and Women's Hospital, Mayo Clinic, Mayo Clinic, Mayo Clinic, Mayo Clinic, Mayo Clinic, Harvard University, Harvard University - Brigham and Women's Hospital, Harvard University - Brigham and Women's Hospital, Harvard University - Brigham and Women's Hospital, Harvard University - Brigham and Women's Hospital, Harvard University, Mayo Clinic, Mayo Clinic, Mayo Clinic, Mayo Clinic, Harvard University, University of Leicester, University of Colorado Anschutz Medical Campus, University of Colorado Anschutz Medical Campus, Harvard University - Channing Division of Network Medicine, University of Leicester, Mayo Clinic, affiliation not provided to SSRN, University of Leicester - Department of Health Sciences, Mayo Clinic Hospital - Phoenix, Mayo Clinic, Harvard University - Brigham and Women's Hospital, Mayo Clinic, Harvard University - Channing Division of Network Medicine and Harvard University
Downloads 135 (547,695)

Abstract:

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Interstitial Lung Disease, Idiopathic Pulmonary Fibrosis, Genetics, Polygenic Risk Score, Diagnosis, Mortality

2.

A Genotype-First Approach in Individuals with Variable Intellectual Disability Permits BRWD3 Mutations’ Diagnosis

Number of pages: 13 Posted: 22 Jul 2022
University of Dijon - Reference center “Intellectual disabilities from rare causes”, affiliation not provided to SSRN, affiliation not provided to SSRN, Mayo Clinic, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, Johns Hopkins University - Kennedy Krieger Institute, Johns Hopkins University - Kennedy Krieger Institute, affiliation not provided to SSRN, affiliation not provided to SSRN, Odense University Hospital, Odense University Hospital, McGill University - McGill University Health Centre, affiliation not provided to SSRN, affiliation not provided to SSRN, Odense University Hospital, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN and University of Dijon - Reference center “Intellectual disabilities from rare causes”
Downloads 79 (823,616)

Abstract:

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BRWD3, Intellectual disability, macrocephaly, obesity