Phenotype-genotype comorbidity analysis of patients with rare disorders provides insight into their pathological and molecular bases-Reference-Cited by-同舟云学术

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Phenotype-genotype comorbidity analysis of patients with rare disorders provides insight into their pathological and molecular bases

Published:2020-10-01 Issue:10 Volume:16 Page:e1009054
ISSN:1553-7404
Container-title:PLOS Genetics
language:en
Short-container-title:PLoS Genet

Author:

Díaz-Santiago Elena^ORCID,Jabato Fernando M.^ORCID,Rojano Elena^ORCID,Seoane Pedro^ORCID,Pazos Florencio,Perkins James R.^ORCID,Ranea Juan A. G.

Funder

Ministerio de Ciencia e Innovación

Junta de Andalucia

Fundacion Progreso y Salud

Fundación Ramón Areces

Instituto de Salud Carlos III

Publisher

Public Library of Science (PLoS)

Subject

Cancer Research,Genetics (clinical),Genetics,Molecular Biology,Ecology, Evolution, Behavior and Systematics

Reference74 articles.

1. Rare Diseases in Europe: from a Wide to a Local Perspective;S Baldovino;The Israel Medical Association journal: IMAJ,2016

2. Rare disease diagnosis: A review of web search, social media and large-scale data-mining approaches;D Svenstrup;Rare Diseases,2015

3. Why rare diseases are an important medical and social issue;A Schieppati;The Lancet,2008

4. Rare-disease genetics in the era of next-generation sequencing: Discovery to translation;KM Boycott;Nature Reviews Genetics,2013

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