Literature DB >> 32597967

Ending the Diagnostic Odyssey-Is Whole-Genome Sequencing the Answer?

Ann Chen Wu1, Pamela McMahon1, Christine Lu1.   

Abstract

Entities:  

Year:  2020        PMID： 32597967     DOI： 10.1001/jamapediatrics.2020.1522

Source DB:  PubMed          Journal:  JAMA Pediatr        ISSN： 2168-6203            Impact factor:   16.193


× No keyword cloud information.
  9 in total

1.  Need for revision of the ACMG/AMP guidelines for interpretation of X-linked variants.

Authors:  Yoko Inoue; Osamu Machida; Yosuke Kita; Toshiyuki Yamamoto
Journal:  Intractable Rare Dis Res       Date:  2022-08

Review 2.  Long-read sequencing for molecular diagnostics in constitutional genetic disorders.

Authors:  Laura K Conlin; Erfan Aref-Eshghi; Deborah A McEldrew; Minjie Luo; Ramakrishnan Rajagopalan
Journal:  Hum Mutat       Date:  2022-09-18       Impact factor: 4.700

3.  Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus.

Authors:  Junwon Lee; Han Jeong; Dongju Won; Saeam Shin; Seung-Tae Lee; Jong Rak Choi; Suk Ho Byeon; Helen J Kuht; Mervyn G Thomas; Jinu Han
Journal:  Transl Vis Sci Technol       Date:  2022-06-01       Impact factor: 3.048

4.  Genome sequencing as a first-line diagnostic test for hospitalized infants.

Authors:  Kevin M Bowling; Michelle L Thompson; Candice R Finnila; Susan M Hiatt; Donald R Latner; Michelle D Amaral; James M J Lawlor; Kelly M East; Meagan E Cochran; Veronica Greve; Whitley V Kelley; David E Gray; Stephanie A Felker; Hannah Meddaugh; Ashley Cannon; Amanda Luedecke; Kelly E Jackson; Laura G Hendon; Hillary M Janani; Marla Johnston; Lee Ann Merin; Sarah L Deans; Carly Tuura; Heather Williams; Kelly Laborde; Matthew B Neu; Jessica Patrick-Esteve; Anna C E Hurst; Jegen Kandasamy; Wally Carlo; Kyle B Brothers; Brian M Kirmse; Renate Savich; Duane Superneau; Steven B Spedale; Sara J Knight; Gregory S Barsh; Bruce R Korf; Gregory M Cooper
Journal:  Genet Med       Date:  2021-11-27       Impact factor: 8.864

5.  The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis.

Authors:  Antonio Victor Campos Coelho; Bruna Mascaro-Cordeiro; Danielle Ribeiro Lucon; Maria Soares Nóbrega; Rodrigo de Souza Reis; Rodrigo Bertollo de Alexandre; Livia Maria Silva Moura; Gustavo Santos de Oliveira; Rafael Lucas Muniz Guedes; Marcel Pinheiro Caraciolo; Nuria Bengala Zurro; Murilo Castro Cervato; João Bosco Oliveira
Journal:  Front Mol Biosci       Date:  2022-05-02

6.  The national economic burden of rare disease in the United States in 2019.

Authors:  Grace Yang; Inna Cintina; Anne Pariser; Elisabeth Oehrlein; Jamie Sullivan; Annie Kennedy
Journal:  Orphanet J Rare Dis       Date:  2022-04-12       Impact factor: 4.123

7.  An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee.

Authors:  Peter Burgard; Daniela Choukair; Fabian Hauck; Markus Bettendorf; Heiko Krude; Christoph Klein; Tobias Bäumer; Reinhard Berner; Min Ae Lee-Kirsch; Corinna Grasemann; Georg F Hoffmann
Journal:  Orphanet J Rare Dis       Date:  2021-11-12       Impact factor: 4.123

8.  A Formative Study of the Implementation of Whole Genome Sequencing in Northern Ireland.

Authors:  Katie Kerr; Caoimhe McKenna; Shirley Heggarty; Caitlin Bailie; Julie McMullan; Ashleen Crowe; Jill Kilner; Michael Donnelly; Saralynne Boyle; Gillian Rea; Cheryl Flanagan; Shane McKee; Amy Jayne McKnight
Journal:  Genes (Basel)       Date:  2022-06-21       Impact factor: 4.141

9.  Exploring Rare Disease Patient Attitudes and Beliefs regarding Genetic Testing: Implications for Person-Centered Care.

Authors:  Andrew A Dwyer; Melissa K Uveges; Samantha Dockray; Neil Smith
Journal:  J Pers Med       Date:  2022-03-16
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.