Literature DB >> 34497400

Fond farewell to clinical utility gene cards.

Alisdair McNeill1,2.   

Abstract

Entities:  

Mesh：

Year:  2021        PMID： 34497400      PMCID： PMC8484671          DOI： 10.1038/s41431-021-00957-z

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   5.351


× No keyword cloud information.
  9 in total

1.  Clinical utility gene card for FRMD7-related infantile nystagmus.

Authors:  Basu Dawar; Helen J Kuht; Jinu Han; Gail D E Maconachie; Mervyn G Thomas
Journal:  Eur J Hum Genet       Date:  2021-02-25       Impact factor: 5.351

2.  Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)-an update.

Authors:  Abdullah Aamir; Helen J Kuht; Karen Grønskov; Brian P Brooks; Mervyn G Thomas
Journal:  Eur J Hum Genet       Date:  2021-01-27       Impact factor: 5.351

3.  International transfers of personal data for health research following Schrems II: a problem in need of a solution.

Authors:  Dara Hallinan; Alexander Bernier; Anne Cambon-Thomsen; Francis P Crawley; Diana Dimitrova; Claudia Bauzer Medeiros; Gustav Nilsonne; Simon Parker; Brian Pickering; Stéphanie Rennes
Journal:  Eur J Hum Genet       Date:  2021-05-06       Impact factor: 4.246

4.  Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis.

Authors:  Bryn D Webb; Hilary Hotchkiss; Pankaj Prasun; Bruce D Gelb; Lisa Satlin
Journal:  Eur J Hum Genet       Date:  2021-04-12       Impact factor: 4.246

5.  Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.

Authors:  Siying Lin; James Fasham; Fida' Al-Hijawi; Nouar Qutob; Adam Gunning; Joseph S Leslie; Lucy McGavin; Nishanka Ubeyratna; Wisam Baker; Ramez Zeid; Peter D Turnpenny; Andrew H Crosby; Emma L Baple; Reham Khalaf-Nazzal
Journal:  Eur J Hum Genet       Date:  2021-05-20       Impact factor: 4.246

6.  Fine-scale population structure in five rural populations from the Spanish Eastern Pyrenees using high-coverage whole-genome sequence data.

Authors:  Iago Maceda; Miguel Martín Álvarez; Pedro Moral; Oscar Lao; Georgios Athanasiadis; Raúl Tonda; Jordi Camps; Sergi Beltran; Agustí Camps; Jordi Fàbrega; Josefina Felisart; Joan Grané; José Luis Remón; Jordi Serra
Journal:  Eur J Hum Genet       Date:  2021-04-09       Impact factor: 4.246

7.  Toward the diagnosis of rare childhood genetic diseases: what do parents value most?

Authors:  Samantha Pollard; Deirdre Weymann; Jessica Dunne; Fatemeh Mayanloo; John Buckell; James Buchanan; Sarah Wordsworth; Jan M Friedman; Sylvia Stockler-Ipsiroglu; Nick Dragojlovic; Alison M Elliott; Mark Harrison; Larry D Lynd; Dean A Regier
Journal:  Eur J Hum Genet       Date:  2021-04-26       Impact factor: 4.246

8.  Genetic drift from the out-of-Africa bottleneck leads to biased estimation of genetic architecture and selection.

Authors:  Bilal Ashraf; Daniel John Lawson
Journal:  Eur J Hum Genet       Date:  2021-04-13       Impact factor: 4.246

9.  Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency.

Authors:  Eleanor Hay; Louise C Wilson; Bethan Hoskins; Martin Samuels; Pinki Munot; Shamima Rahman
Journal:  Eur J Hum Genet       Date:  2021-07-20       Impact factor: 4.246
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.