Literature DB >> 22767915

Genetics. Human genetic variation, shared and private.

Ferran Casals1, Jaume Bertranpetit.   

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Year:  2012        PMID： 22767915     DOI： 10.1126/science.1224528

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


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  20 in total

1.  Intact piRNA pathway prevents L1 mobilization in male meiosis.

Authors:  Simon J Newkirk; Suman Lee; Fiorella C Grandi; Valeriya Gaysinskaya; James M Rosser; Nicole Vanden Berg; Cathryn A Hogarth; Maria C N Marchetto; Alysson R Muotri; Michael D Griswold; Ping Ye; Alex Bortvin; Fred H Gage; Jef D Boeke; Wenfeng An
Journal:  Proc Natl Acad Sci U S A       Date:  2017-06-19       Impact factor: 11.205

2.  Patterns of Genetic Coding Variation in a Native American Population before and after European Contact.

Authors:  John Lindo; Mary Rogers; Elizabeth K Mallott; Barbara Petzelt; Joycelynn Mitchell; David Archer; Jerome S Cybulski; Ripan S Malhi; Michael DeGiorgio
Journal:  Am J Hum Genet       Date:  2018-04-26       Impact factor: 11.025

3.  Genome-Scale Networks Link Neurodegenerative Disease Genes to α-Synuclein through Specific Molecular Pathways.

Authors:  Vikram Khurana; Jian Peng; Chee Yeun Chung; Pavan K Auluck; Saranna Fanning; Daniel F Tardiff; Theresa Bartels; Martina Koeva; Stephen W Eichhorn; Hadar Benyamini; Yali Lou; Andy Nutter-Upham; Valeriya Baru; Yelena Freyzon; Nurcan Tuncbag; Michael Costanzo; Bryan-Joseph San Luis; David C Schöndorf; M Inmaculada Barrasa; Sepehr Ehsani; Neville Sanjana; Quan Zhong; Thomas Gasser; David P Bartel; Marc Vidal; Michela Deleidi; Charles Boone; Ernest Fraenkel; Bonnie Berger; Susan Lindquist
Journal:  Cell Syst       Date:  2017-01-25       Impact factor: 10.304

4.  Genetic counselors' views and experiences with the clinical integration of genome sequencing.

Authors:  Kalotina Machini; Jessica Douglas; Alicia Braxton; Judith Tsipis; Kate Kramer
Journal:  J Genet Couns       Date:  2014-03-28       Impact factor: 2.537

Review 5.  Combating neurodegenerative disease with chemical probes and model systems.

Authors:  Priyanka Narayan; Sepehr Ehsani; Susan Lindquist
Journal:  Nat Chem Biol       Date:  2014-10-17       Impact factor: 15.040

6.  Clioquinol promotes the degradation of metal-dependent amyloid-β (Aβ) oligomers to restore endocytosis and ameliorate Aβ toxicity.

Authors:  Kent E S Matlack; Daniel F Tardiff; Priyanka Narayan; Shusei Hamamichi; Kim A Caldwell; Guy A Caldwell; Susan Lindquist
Journal:  Proc Natl Acad Sci U S A       Date:  2014-03-03       Impact factor: 11.205

7.  Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population.

Authors:  H Moteki; H Azaiez; K T Booth; A E Shearer; C M Sloan; D L Kolbe; S Nishio; M Hattori; S Usami; R J H Smith
Journal:  Clin Genet       Date:  2015-10-06       Impact factor: 4.438

Review 8.  Proteome-Scale Mapping of Perturbed Proteostasis in Living Cells.

Authors:  Isabel Lam; Erinc Hallacli; Vikram Khurana
Journal:  Cold Spring Harb Perspect Biol       Date:  2020-02-03       Impact factor: 10.005

9.  Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.

Authors:  Dorota Fiszer; Marie-Anne Shaw; Nickla A Fisher; Ian M Carr; Pawan K Gupta; Elizabeth J Watkins; Daniel Roiz de Sa; Jerry H Kim; Philip M Hopkins
Journal:  Anesthesiology       Date:  2015-05       Impact factor: 7.892

10.  Admixture Has Shaped Romani Genetic Diversity in Clinically Relevant Variants.

Authors:  Neus Font-Porterias; Aaron Giménez; Annabel Carballo-Mesa; Francesc Calafell; David Comas
Journal:  Front Genet       Date:  2021-06-16       Impact factor: 4.599
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