Literature DB >> 33972741

Out now in May's EJHG.

Alisdair McNeill1.   

Abstract

Entities:  

Mesh：

Year:  2021        PMID： 33972741      PMCID： PMC8110754          DOI： 10.1038/s41431-021-00896-9

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


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  6 in total

1.  Germline FFPE inherited cancer panel testing in deceased family members: implications for clinical management of unaffected relatives.

Authors:  Sarah Bennett; Elizabeth Alexander; Harry Fraser; Naomi Bowers; Andrew Wallace; Emma R Woodward; Fiona Lalloo; Anne Marie Quinn; Shuwen Huang; Helene Schlecht; D Gareth Evans
Journal:  Eur J Hum Genet       Date:  2021-03-02       Impact factor: 5.351

2.  The ethics of genomic medicine: redefining values and norms in the UK and France.

Authors:  Marie Gaille; Ruth Horn
Journal:  Eur J Hum Genet       Date:  2021-01-17       Impact factor: 5.351

3.  Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development.

Authors:  Julie A Jurgens; Brenda J Barry; Gabrielle Lemire; Wai-Man Chan; Mary C Whitman; Sherin Shaaban; Caroline D Robson; Sarah MacKinnon; Eleina M England; Hugh J McMillan; Christopher Kelly; Brandon M Pratt; Anne O'Donnell-Luria; Daniel G MacArthur; Kym M Boycott; David G Hunter; Elizabeth C Engle
Journal:  Eur J Hum Genet       Date:  2021-03-01       Impact factor: 5.351

4.  Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.

Authors:  Amali C Mallawaarachchi; Ben Lundie; Yvonne Hort; Nicole Schonrock; Sarah R Senum; Velimir Gayevskiy; Andre E Minoche; Georgina Hollway; Thomas Ohnesorg; Marcus Hinchcliffe; Chirag Patel; Michel Tchan; Andrew Mallett; Marcel E Dinger; Gopala Rangan; Mark J Cowley; Peter C Harris; Leslie Burnett; John Shine; Timothy J Furlong
Journal:  Eur J Hum Genet       Date:  2021-01-12       Impact factor: 5.351

5.  Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research.

Authors:  Sergio Daga; Chiara Fallerini; Margherita Baldassarri; Francesca Fava; Floriana Valentino; Gabriella Doddato; Elisa Benetti; Simone Furini; Annarita Giliberti; Rossella Tita; Sara Amitrano; Mirella Bruttini; Ilaria Meloni; Anna Maria Pinto; Francesco Raimondi; Alessandra Stella; Filippo Biscarini; Nicola Picchiotti; Marco Gori; Pietro Pinoli; Stefano Ceri; Maurizio Sanarico; Francis P Crawley; Giovanni Birolo; Alessandra Renieri; Francesca Mari; Elisa Frullanti
Journal:  Eur J Hum Genet       Date:  2021-01-17       Impact factor: 5.351

6.  Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders.

Authors:  Bertrand Chesneau; Aurélie Plancke; Guillaume Rolland; Nicolas Chassaing; Christine Coubes; Elise Brischoux-Boucher; Thomas Edouard; Yves Dulac; Marion Aubert-Mucca; Thierry Lavabre-Bertrand; Julie Plaisancié; Philippe Khau Van Kien
Journal:  Eur J Hum Genet       Date:  2021-01-07       Impact factor: 5.351
  6 in total

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