Literature DB >> 29023436

Responsible implementation of expanded carrier screening.

Lidewij Henneman, Pascal Borry, Davit Chokoshvili, Martina C Cornel, Carla G van El, Francesca Forzano, Alison Hall, Heidi C Howard, Sandra Janssens, Hülya Kayserili, Phillis Lakeman, Anneke Lucassen, Sylvia A Metcalfe, Lovro Vidmar, Guido de Wert, Wybo J Dondorp, Borut Peterlin.   

Abstract

This corrects the article DOI: 10.1038/ejhg.2015.271.

Year:  2017        PMID： 29023436      PMCID： PMC5643976          DOI： 10.1038/ejhg.2017.159

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  5 in total

1.  Current attitudes and preconceptions towards expanded carrier screening in the Eastern Chinese reproductive-aged population.

Authors:  Fang Zhang; Jianxin Tan; Binbin Shao; Tao Jiang; Ran Zhou; Yan Wang; Jingjing Zhang; Fengchang Qiao; Xiuqing Ji; Ya Wang; Ping Hu; Zhengfeng Xu
Journal:  J Assist Reprod Genet       Date:  2021-01-06       Impact factor: 3.412

2.  Study protocol of a multicentre cohort pilot study implementing an expanded preconception carrier-screening programme in metropolitan and regional Western Australia.

Authors:  Royston Ong; Samantha Edwards; Denise Howting; Benjamin Kamien; Karen Harrop; Gianina Ravenscroft; Mark Davis; Michael Fietz; Nicholas Pachter; John Beilby; Nigel Laing
Journal:  BMJ Open       Date:  2019-06-16       Impact factor: 2.692

Review 3.  The Reproductive Journey in the Genomic Era: From Preconception to Childhood.

Authors:  Sandra Garcia-Herrero; Blanca Simon; Javier Garcia-Planells
Journal:  Genes (Basel)       Date:  2020-12-19       Impact factor: 4.096

4.  Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome.

Authors:  Hongjun Fei; Yi Wu; Yanlin Wang; Junyu Zhang
Journal:  Mol Genet Genomic Med       Date:  2022-01-29       Impact factor: 2.183

5.  Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Authors:  Antonio Capalbo; Roberto Alonso Valero; Jorge Jimenez-Almazan; Pere Mir Pardo; Marco Fabiani; David Jiménez; Carlos Simon; Julio Martin Rodriguez
Journal:  PLoS Genet       Date:  2019-10-07       Impact factor: 5.917
  5 in total

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