Literature DB >> 33393745

Human Molecular Genetics and Genomics - Important Advances and Exciting Possibilities.

Francis S Collins1, Jennifer A Doudna1, Eric S Lander1, Charles N Rotimi1.   

Abstract

Entities:  

Year:  2021        PMID： 33393745     DOI： 10.1056/NEJMp2030694

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  8 in total

Review 1.  The National Academies' Roundtable on Genomics and Precision Health: Where we have been and where we are heading.

Authors:  Geoffrey Ginsburg; Michelle Penny; W Gregory Feero; Mona Miller; Siobhan Addie; Sarah H Beachy
Journal:  Am J Hum Genet       Date:  2021-10-07       Impact factor: 11.025

2.  Toward a new taxonomy of obstetrical disease: improved performance of maternal blood biomarkers for the great obstetrical syndromes when classified according to placental pathology.

Authors:  Roberto Romero; Eunjung Jung; Tinnakorn Chaiworapongsa; Offer Erez; Dereje W Gudicha; Yeon Mee Kim; Jung-Sun Kim; Bomi Kim; Juan Pedro Kusanovic; Francesca Gotsch; Andreea B Taran; Bo Hyun Yoon; Sonia S Hassan; Chaur-Dong Hsu; Piya Chaemsaithong; Nardhy Gomez-Lopez; Lami Yeo; Chong Jai Kim; Adi L Tarca
Journal:  Am J Obstet Gynecol       Date:  2022-09-03       Impact factor: 10.693

3.  Systemic lupus erythematosus as a genetic disease.

Authors:  Isaac T W Harley; Amr H Sawalha
Journal:  Clin Immunol       Date:  2022-02-09       Impact factor: 10.190

Review 4.  The Multifaceted Biology of PCSK9.

Authors:  Nabil G Seidah; Annik Prat
Journal:  Endocr Rev       Date:  2022-05-12       Impact factor: 25.261

5.  Linking common human diseases to their phenotypes; development of a resource for human phenomics.

Authors:  Şenay Kafkas; Sara Althubaiti; Georgios V Gkoutos; Robert Hoehndorf; Paul N Schofield
Journal:  J Biomed Semantics       Date:  2021-08-23

6.  RNA-seq driven expression and enrichment analysis to investigate CVD genes with associated phenotypes among high-risk heart failure patients.

Authors:  Zeeshan Ahmed; Saman Zeeshan; Bruce T Liang
Journal:  Hum Genomics       Date:  2021-11-13       Impact factor: 4.639

7.  The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.

Authors:  Ammar J Alsheikh; Sabrina Wollenhaupt; Emily A King; Jonas Reeb; Sujana Ghosh; Lindsay R Stolzenburg; Saleh Tamim; Jozef Lazar; J Wade Davis; Howard J Jacob
Journal:  BMC Med Genomics       Date:  2022-04-01       Impact factor: 3.063

Review 8.  The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health.

Authors:  Audrey C Woerner; Renata C Gallagher; Jerry Vockley; Aashish N Adhikari
Journal:  Front Pediatr       Date:  2021-07-19       Impact factor: 3.418
  8 in total

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