Literature DB >> 35676534

What's new in genetics in June 2022?

Alisdair McNeill1,2.   

Abstract

Entities:  

Year:  2022        PMID： 35676534      PMCID： PMC9177539          DOI： 10.1038/s41431-022-01122-w

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


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  16 in total

1.  Non-invasive prenatal testing (NIPT) and pregnant women's views on good motherhood: a qualitative study.

Authors:  Elisa Garcia; Lidewij Henneman; Janneke T Gitsels-van der Wal; Linda Martin; Isabel Koopmanschap; Mireille N Bekker; Danielle R M Timmermans
Journal:  Eur J Hum Genet       Date:  2021-08-17       Impact factor: 5.351

2.  Bi-allelic variants in human TCTE1/DRC5 cause asthenospermia and male infertility.

Authors:  Shushu Zhou; Huan Wu; Jintao Zhang; Xiaojin He; Siyu Liu; Ping Zhou; Rong Hua; Yunxia Cao; Mingxi Liu
Journal:  Eur J Hum Genet       Date:  2022-04-07       Impact factor: 5.351

3.  16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing.

Authors:  Romain Nicolle; Karine Siquier-Pernet; Marlène Rio; Anne Guimier; Emmanuelle Ollivier; Patrick Nitschke; Christine Bole-Feysot; Serge Romana; Alex Hastie; Vincent Cantagrel; Valérie Malan
Journal:  Eur J Hum Genet       Date:  2022-04-07       Impact factor: 5.351

4.  The need for recognition of core professional groups in genetics healthcare services in Europe.

Authors:  Milena Paneque; Thomas Liehr; Clara Serra Juhé; Ute Moog; Bela Melegh; Isabel Carreira
Journal:  Eur J Hum Genet       Date:  2022-03-14       Impact factor: 5.351

5.  A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes.

Authors:  You-Ri Kang; So-Hyun Lee; Ni-Hsuan Lin; Seung-Jin Lee; Ai-Wen Yang; Gopalakrishnan Chandrasekaran; Kyung Wook Kang; Mi Sun Jin; Myeong-Kyu Kim; Ming-Der Perng; Seok-Yong Choi; Tai-Seung Nam
Journal:  Eur J Hum Genet       Date:  2022-03-04       Impact factor: 5.351

6.  Mosaicism in PTEN-new case and comment on the literature.

Authors:  Paula Rofes; Álex Teulé; Lídia Feliubadaló; Mònica Salinas; Raquel Cuesta; Sílvia Iglesias; Olga Campos; Sara González; Gabriel Capellá; Joan Brunet; Jesús Del Valle; Conxi Lázaro
Journal:  Eur J Hum Genet       Date:  2022-02-01       Impact factor: 5.351

Review 7.  A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease.

Authors:  Stephanie Best; Nada Vidic; Kim An; Felicity Collins; Susan M White
Journal:  Eur J Hum Genet       Date:  2022-01-20       Impact factor: 5.351

8.  NIPT and the concerns regarding 'routinisation'.

Authors:  Ruth Horn
Journal:  Eur J Hum Genet       Date:  2022-02-07       Impact factor: 5.351

9.  Routinization of prenatal screening with the non-invasive prenatal test: pregnant women's perspectives.

Authors:  Karuna R M van der Meij; Annabel Njio; Linda Martin; Janneke T Gitsels-van der Wal; Mireille N Bekker; Elsbeth H van Vliet-Lachotzki; A Jeanine E M van der Ven; Adriana Kater-Kuipers; Danielle R M Timmermans; Erik A Sistermans; Robert-Jan H Galjaard; Lidewij Henneman
Journal:  Eur J Hum Genet       Date:  2021-08-13       Impact factor: 5.351

10.  Gene-lifestyle interactions in the genomics of human complex traits.

Authors:  Vincent Laville; Timothy Majarian; Yun J Sung; Karen Schwander; Mary F Feitosa; Daniel I Chasman; Amy R Bentley; Charles N Rotimi; L Adrienne Cupples; Paul S de Vries; Michael R Brown; Alanna C Morrison; Aldi T Kraja; Mike Province; C Charles Gu; W James Gauderman; D C Rao; Alisa K Manning; Hugues Aschard
Journal:  Eur J Hum Genet       Date:  2022-03-22       Impact factor: 5.351
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