Estimating prevalence of rare genetic disease diagnoses using electronic health records in a children’s hospital-Reference-Cited by-同舟云学术

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Estimating prevalence of rare genetic disease diagnoses using electronic health records in a children’s hospital

Published:2024-10 Issue:4 Volume:5 Page:100341
ISSN:2666-2477
Container-title:Human Genetics and Genomics Advances
language:en
Short-container-title:Human Genetics and Genomics Advances

Author:

Herr Kate,Lu Peixin,Diamreyan Kessi,Xu Huan,Mendonca Eneida,Weaver K. Nicole,Chen Jing^ORCID

Funder

Cincinnati Children's Hospital Medical Center

Publisher

Elsevier BV

Reference43 articles.

1. Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics;Hartin;Mol. Med.,2020

2. Rare diseases: clinical progress but societal stalemate;Lancet Child Adolesc. Health,2020

3. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome;Marwaha;Genome Med.,2022

4. Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing;Morley;Nat. Med.,2021

5. Using deep learning and electronic health records to detect Noonan syndrome in pediatric patients;Yang;Genet. Med.,2022

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