Literature DB >> 36221024

Happy 30th birthday to the European Journal of Human Genetics!

Alisdair McNeill1,2.   

Abstract

Entities:  

Mesh：

Year:  2022        PMID： 36221024      PMCID： PMC9554020          DOI： 10.1038/s41431-022-01188-6

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


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  11 in total

1.  Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant.

Authors:  Jonathan Rodgers; Paweł Stankiewicz; Esra Yıldız Bölükbaşı; Justyna A Karolak; Przemyslaw Szafranski; Tomasz Gambin; Admire Matsika; Sam McManus; Hamish S Scott; Peer Arts; Thuong Ha; Christopher P Barnett
Journal:  Eur J Hum Genet       Date:  2022-07-28       Impact factor: 5.351

2.  Minors at risk of von Hippel-Lindau disease: 10 years' experience of predictive genetic testing and follow-up adherence.

Authors:  Roseline Vibert; Khadija Lahlou-Laforêt; Maryam Samadi; Valérie Krivosic; Thomas Blanc; Laurence Amar; Nelly Burnichon; Caroline Abadie; Stéphane Richard; Anne-Paule Gimenez-Roqueplo
Journal:  Eur J Hum Genet       Date:  2022-08-02       Impact factor: 5.351

3.  Functional characterization of a novel p.Ser76Thr variant in IGFBP4 that associates with body mass index in American Indians.

Authors:  Yunhua L Muller; Michael Saporito; Samantha Day; Khushdeep Bandesh; Cigdem Koroglu; Sayuko Kobes; William C Knowler; Robert L Hanson; Cristopher V Van Hout; Alan R Shuldiner; Clifton Bogardus; Leslie J Baier
Journal:  Eur J Hum Genet       Date:  2022-06-10       Impact factor: 5.351

4.  The case for screening in early life for 'non-treatable' disorders: ethics, evidence and proportionality. A report from the Health Council of the Netherlands.

Authors:  Shona Kalkman; Wybo Dondorp
Journal:  Eur J Hum Genet       Date:  2022-02-07       Impact factor: 5.351

5.  Detection of a pathogenic Alu element insertion in PALB2 gene from targeted NGS diagnostic data.

Authors:  Mélanie Eyries; Olivier Ariste; Gaelle Legrand; Noémie Basset; Erell Guillerm; Alexandre Perrier; Caroline Duros; Odile Cohen-Haguenauer; Pierre de la Grange; Florence Coulet
Journal:  Eur J Hum Genet       Date:  2022-03-11       Impact factor: 5.351

6.  Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health.

Authors:  Jarle Johannessen; Terje Nærland; Sigrun Hope; Tonje Torske; Anett Kaale; Katrine V Wirgenes; Eva Malt; Srdjan Djurovic; Marcella Rietschel; Ole A Andreassen
Journal:  Eur J Hum Genet       Date:  2021-11-15       Impact factor: 5.351

7.  Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome.

Authors:  Shannon Carter; Bridget J Fellows; Kate Gibson; Louise S Bicknell
Journal:  Eur J Hum Genet       Date:  2022-07-25       Impact factor: 5.351

8.  Returning individual research results in international direct-to-participant genomic research: results from a 31-country study.

Authors:  Michael Lang; Ma'n H Zawati
Journal:  Eur J Hum Genet       Date:  2022-04-28       Impact factor: 5.351

9.  Estimation of the number of inherited prion disease mutation carriers in the UK.

Authors:  Rosie Corbie; Tracy Campbell; Lee Darwent; Peter Rudge; John Collinge; Simon Mead
Journal:  Eur J Hum Genet       Date:  2022-06-27       Impact factor: 5.351

10.  Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.

Authors:  Marcel E Dinger; Tony Roscioli; Lisa J Ewans; Andre E Minoche; Deborah Schofield; Rupendra Shrestha; Clare Puttick; Ying Zhu; Alexander Drew; Velimir Gayevskiy; George Elakis; Corrina Walsh; Lesley C Adès; Alison Colley; Carolyn Ellaway; Carey-Anne Evans; Mary-Louise Freckmann; Linda Goodwin; Anna Hackett; Benjamin Kamien; Edwin P Kirk; Michelle Lipke; David Mowat; Elizabeth Palmer; Sulekha Rajagopalan; Anne Ronan; Rani Sachdev; William Stevenson; Anne Turner; Meredith Wilson; Lisa Worgan; Marie-Christine Morel-Kopp; Michael Field; Michael F Buckley; Mark J Cowley
Journal:  Eur J Hum Genet       Date:  2022-08-15       Impact factor: 5.351
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