Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases-Reference-Cited by-同舟云学术

Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases

Published:2020-11-30 Issue:4 Volume:184 Page:955-964
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am J Med Genet

Author:

Quaio Caio Robledo D'Angioli Costa¹²^ORCID,Moreira Caroline Monaco¹,Novo‐Filho Gil Monteiro¹,Sacramento‐Bobotis Patricia Rossi¹,Groenner Penna Michele¹,Perazzio Sandro Felix¹³,Dutra Aurelio Pimenta¹,Silva Rafael Alves¹⁴,Santos Monize Nakamoto Provisor¹,Arruda Vanessa Yurie Nozaki¹,Freitas Vanessa Galdeno¹⁵,Pereira Vinícius Ceola¹,Pintao Maria Carolina¹,Fornari Alexandre Ricardo dos Santos¹,Buzolin Ana Lígia¹,Oku Andre Yuji¹,Burger Matheus¹,Ramalho Rodrigo Fernandes¹,Marco Antonio David Santos¹,Ferreira Elisa Napolitano¹,Pereira Otavio Jose Eulalio¹,Cantagalli Vanessa Dionisio¹,Trindade Ana Carolina Gomes¹,Sousa Rafaela Rogerio Floriano¹,Reys Furuzawa Cintia¹,Verzini Fernanda¹,Matalhana Shirley Dezan¹,Romano Naiade¹,Paixão Daniele¹,Olivati Caroline¹,Spolador Gustavo Marquezani¹,Maciel Gustavo Arantes Rosa¹⁶,Rocha Viviane Zorzanelli¹⁷,Miguelez Javier¹,Carvalho Mario Henrique Burlacchini¹⁸,Souza Alexandre Wagner Silva¹³,Andrade Luis Eduardo Coelho¹³,Chauffaille Maria de Lourdes¹,Perazzio Aline dos Santos Borgo¹,Catelani Ana Lucia Pereira Monteiro¹,Mitne‐Neto Miguel¹,Kim Chong Ae²,Baratela Wagner Antonio da Rosa¹

Affiliation:

1. Fleury Medicina e Saúde Grupo Fleury São Paulo SP Brazil

2. Instituto da Crianca (Children's Hospital) Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo Sao Paulo SP Brazil

3. Rheumatology Division, Department of Medicine, Escola Paulista de Medicina Universidade Federal de Sao Paulo São Paulo SP Brazil

4. Escola Paulista de Medicina, Laboratório de Hepatologia Molecular Aplicada (LHeMA) Universidade Federal de São Paulo São Paulo SP Brazil

5. Instituto de Matemática e Estatística da Universidade de São Paulo e Instituto de Ensino e Pesquisa do Hospital Sírio Libanês São Paulo SP Brazil

6. Discipline of Gynecology Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo São Paulo SP Brazil

7. Heart Institute (InCor) Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo São Paulo SP Brazil

8. Disciplina de Obstetrícia, Departamento de Obstetrícia e Ginecologia Faculdade de Medicina FMUSP, Universidade de Sao Paulo São Paulo SP Brazil

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31860

Reference24 articles.

1. Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing

2. FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

3. Rare-disease genetics in the era of next-generation sequencing: discovery to translation

4. Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

5. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

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