Literature DB >> 30760884

Expanded reproductive carrier screening-how can we do the most good and cause the least harm?

Martin B Delatycki1,2, Nigel Laing3,4, Edwin Kirk5,6,7.   

Abstract

Mesh：

Year:  2019        PMID： 30760884      PMCID： PMC6461974          DOI： 10.1038/s41431-019-0356-y

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


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  4 in total

1.  Population screening for reproductive risk for single gene disorders in Australia: now and the future.

Authors:  Martin B Delatycki
Journal:  Twin Res Hum Genet       Date:  2008-08       Impact factor: 1.587

2.  Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.

Authors:  Alison Dalton Archibald; Melanie Jane Smith; Trent Burgess; Katrina Louise Scarff; Justine Elliott; Clare Elizabeth Hunt; Zoe McDonald; Caitlin Barns-Jenkins; Chelsea Holt; Karina Sandoval; Vanessa Siva Kumar; Lisa Ward; Emily Caroline Allen; Sarah Valerie Collis; Shannon Cowie; David Francis; Martin B Delatycki; Eppie Mildred Yiu; R John Massie; Mark Domenic Pertile; Desirée du Sart; Damien Bruno; David J Amor
Journal:  Genet Med       Date:  2017-10-26       Impact factor: 8.822

3.  Time Costs for Genetic Counseling in Preconception Carrier Screening with Genome Sequencing.

Authors:  Frances L Lynch; Patricia Himes; Marian J Gilmore; Elissa M Morris; Jennifer L Schneider; Tia L Kauffman; Elizabeth Shuster; Jacob A Reiss; John F Dickerson; Michael C Leo; James V Davis; Carmit K McMullen; Benjamin S Wilfond; Katrina A B Goddard
Journal:  J Genet Couns       Date:  2018-02-08       Impact factor: 2.537

4.  Feasibility of couple-based expanded carrier screening offered by general practitioners.

Authors:  Juliette Schuurmans; Erwin Birnie; Lieke M van den Heuvel; Mirjam Plantinga; Anneke Lucassen; Dorina M van der Kolk; Kristin M Abbott; Adelita V Ranchor; Agnes D Diemers; Irene M van Langen
Journal:  Eur J Hum Genet       Date:  2019-02-11       Impact factor: 4.246
  4 in total
  3 in total

1.  The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders.

Authors:  Sarah J Beecroft; Phillipa J Lamont; Samantha Edwards; Hayley Goullée; Mark R Davis; Nigel G Laing; Gianina Ravenscroft
Journal:  Mol Diagn Ther       Date:  2020-09-30       Impact factor: 4.074

2.  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

3.  Couples' experiences with expanded carrier screening: evaluation of a university hospital screening offer.

Authors:  Ivy van Dijke; Phillis Lakeman; Naoual Sabiri; Hanna Rusticus; Cecile P E Ottenheim; Inge B Mathijssen; Martina C Cornel; Lidewij Henneman
Journal:  Eur J Hum Genet       Date:  2021-06-21       Impact factor: 4.246
  3 in total

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