Literature DB >> 35579644

Penetrance of Deleterious Clinical Variants-Reply.

Iain S Forrest1, Girish N Nadkarni1, Ron Do1.   

Abstract

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Year:  2022        PMID: 35579644      PMCID: PMC9423129          DOI: 10.1001/jama.2022.4634

Source DB:  PubMed          Journal:  JAMA        ISSN: 0098-7484            Impact factor:   157.335


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  6 in total

1.  Improving the phenotype risk score as a scalable approach to identifying patients with Mendelian disease.

Authors:  Lisa Bastarache; Jacob J Hughey; Jeffrey A Goldstein; Julie A Bastraache; Satya Das; Neil Charles Zaki; Chenjie Zeng; Leigh Anne Tang; Dan M Roden; Joshua C Denny
Journal:  J Am Med Inform Assoc       Date:  2019-12-01       Impact factor: 4.497

2.  Variability of pulmonary function in alpha-1-antitrypsin deficiency: clinical correlates.

Authors:  E K Silverman; J A Pierce; M A Province; D C Rao; E J Campbell
Journal:  Ann Intern Med       Date:  1989-12-15       Impact factor: 25.391

3.  Population-Based Penetrance of Deleterious Clinical Variants.

Authors:  Iain S Forrest; Kumardeep Chaudhary; Ha My T Vy; Ben O Petrazzini; Shantanu Bafna; Daniel M Jordan; Ghislain Rocheleau; Ruth J F Loos; Girish N Nadkarni; Judy H Cho; Ron Do
Journal:  JAMA       Date:  2022-01-25       Impact factor: 157.335

4.  UK biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age.

Authors:  Cathie Sudlow; John Gallacher; Naomi Allen; Valerie Beral; Paul Burton; John Danesh; Paul Downey; Paul Elliott; Jane Green; Martin Landray; Bette Liu; Paul Matthews; Giok Ong; Jill Pell; Alan Silman; Alan Young; Tim Sprosen; Tim Peakman; Rory Collins
Journal:  PLoS Med       Date:  2015-03-31       Impact factor: 11.069

5.  Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Authors:  Caroline F Wright; Ben West; Marcus Tuke; Samuel E Jones; Kashyap Patel; Thomas W Laver; Robin N Beaumont; Jessica Tyrrell; Andrew R Wood; Timothy M Frayling; Andrew T Hattersley; Michael N Weedon
Journal:  Am J Hum Genet       Date:  2019-01-18       Impact factor: 11.025

6.  The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes.

Authors:  Tomoko Nakanishi; Vincenzo Forgetta; Tomohiro Handa; Toyohiro Hirai; Vincent Mooser; G Mark Lathrop; William O C M Cookson; J Brent Richards
Journal:  Eur Respir J       Date:  2020-12-10       Impact factor: 16.671

  6 in total

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