Literature DB >> 35579648

Penetrance of Deleterious Clinical Variants.

Lisa Bastarache1, Josh F Peterson1.   

Abstract

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Year:  2022        PMID： 35579648      PMCID： PMC9350877          DOI： 10.1001/jama.2022.4631

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


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  3 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.  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

3.  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
  3 in total

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