Literature DB >> 35794342

Clinical genomics testing: mainstreaming and globalising.

Alisdair McNeill1,2.   

Abstract

Entities:  

Mesh：

Year:  2022        PMID： 35794342      PMCID： PMC9259576          DOI： 10.1038/s41431-022-01131-9

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


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  11 in total

1.  The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients.

Authors:  Jarbas Maciel de Oliveira; Nuria Bengala Zurro; Antonio Victor Campos Coelho; Marcel Pinheiro Caraciolo; Rodrigo Bertollo de Alexandre; Murilo Castro Cervato; Renata Moldenhauer Minillo; George de Vasconcelos Carvalho Neto; Ivana Grivicich; João Bosco Oliveira
Journal:  Eur J Hum Genet       Date:  2022-05-09       Impact factor: 5.351

2.  Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction.

Authors:  Joshua Paul Harvey; Patrick Yu-Wai-Man; Michael Edward Cheetham
Journal:  Eur J Hum Genet       Date:  2022-05-09       Impact factor: 5.351

Review 3.  Informing relatives of their genetic risk: an examination of the Belgian legal context.

Authors:  Amicia Phillips; Thomas Bronselaer; Pascal Borry; Ine Van Hoyweghen; Danya F Vears; Laurent Pasquier; Stefaan Callens
Journal:  Eur J Hum Genet       Date:  2022-01-08       Impact factor: 5.351

4.  The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience.

Authors:  Sofia Douzgou; Janet Dell'Oro; Cristina Rodriguez Fonseca; Alessandra Rei; Jo Mullins; Isabelle Jusiewicz; Sylvia Huisman; Brittany N Simpson; Klea Vyshka; Donatella Milani; Oliver Bartsch; Didier Lacombe; Sixto García-Miñaúr; Raoul C M Hennekam
Journal:  Eur J Hum Genet       Date:  2022-04-06       Impact factor: 5.351

5.  Association of microsatellite instability (MSI) status with the 5-year outcome and genetic ancestry in a large Brazilian cohort of colorectal cancer.

Authors:  Gustavo Noriz Berardinelli; Ronílson Durães; Allini Mafra da Costa; Arinilda Bragagnoli; Marco Antônio de Oliveira; Rui Pereira; Cristovam Scapulatempo-Neto; Denise Peixoto Guimarães; Rui Manuel Reis
Journal:  Eur J Hum Genet       Date:  2022-04-26       Impact factor: 5.351

6.  Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments.

Authors:  Lottie D Morison; Ruth O Braden; David J Amor; Amanda Brignell; Bregje W M van Bon; Angela T Morgan
Journal:  Eur J Hum Genet       Date:  2022-04-18       Impact factor: 5.351

7.  Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease.

Authors:  Marilena Elpidorou; James A Poulter; Katarzyna Szymanska; Wia Baron; Katrin Junger; Karsten Boldt; Marius Ueffing; Lydia Green; John H Livingston; Eammon G Sheridan; Colin A Johnson
Journal:  Eur J Hum Genet       Date:  2022-02-25       Impact factor: 5.351

8.  The stepwise process of integrating a genetic counsellor into primary care.

Authors:  Caitlin Slomp; Emily Morris; Morgan Price; Alison M Elliott; Jehannine Austin
Journal:  Eur J Hum Genet       Date:  2022-01-31       Impact factor: 5.351

9.  Genomic health data generation in the UK: a 360 view.

Authors:  Elizabeth Ormondroyd; Peter Border; Judith Hayward; Andrew Papanikitas
Journal:  Eur J Hum Genet       Date:  2021-10-19       Impact factor: 5.351

10.  Hemoglobinopathy prevention in primary care: a reflection of underdetection and difficulties with accessibility of medical care, a quantitative study.

Authors:  Cornelis L Harteveld; Elisa J F Houwink; Margo E van Vliet; Jean-Louis H Kerkhoffs
Journal:  Eur J Hum Genet       Date:  2022-02-25       Impact factor: 5.351
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