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Literature DB >> 23819146

Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.

Carla G van El¹, Martina C Cornel, Pascal Borry, Ros J Hastings, Florence Fellmann, Shirley V Hodgson, Heidi C Howard, Anne Cambon-Thomsen, Bartha M Knoppers, Hanne Meijers-Heijboer, Hans Scheffer, Lisbeth Tranebjaerg, Wybo Dondorp, Guido M W R de Wert.

Abstract

Entities: Species

Year: 2013 PMID： 23819146 PMCID： PMC3660957

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

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35 in total

1. Genome-wide arrays: quality criteria and platforms to be used in routine diagnostics.

Authors: Joris R Vermeesch; Paul D Brady; Damien Sanlaville; Klaas Kok; Rosalind J Hastings
Journal: Hum Mutat Date: 2012-06 Impact factor: 4.878

Review 2. Disclosure of individual genetic data to research participants: the debate reconsidered.

Authors: Annelien L Bredenoord; Hester Y Kroes; Edwin Cuppen; Michael Parker; Johannes J M van Delden
Journal: Trends Genet Date: 2010-12-27 Impact factor: 11.639

3. Non-invasive prenatal testing: ethical issues explored.

Authors: Antina de Jong; Wybo J Dondorp; Christine E M de Die-Smulders; Suzanne G M Frints; Guido M W R de Wert
Journal: Eur J Hum Genet Date: 2009-12-02 Impact factor: 4.246

4. Genetic testing and common disorders in a public health framework.

Authors: Carla G van El; Martina C Cornel
Journal: Eur J Hum Genet Date: 2011-01-26 Impact factor: 4.246

Review 5. De novo mutations in human genetic disease.

Authors: Joris A Veltman; Han G Brunner
Journal: Nat Rev Genet Date: 2012-07-18 Impact factor: 53.242

6. Communication of biobanks' research results: what do (potential) participants want?

Authors: Tineke M Meulenkamp; Sjef K Gevers; Jasper A Bovenberg; Gerard H Koppelman; Astrid van Hylckama Vlieg; Ellen M A Smets
Journal: Am J Med Genet A Date: 2010-10 Impact factor: 2.802

7. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study.

Authors: Rossa W K Chiu; Ranjit Akolekar; Yama W L Zheng; Tak Y Leung; Hao Sun; K C Allen Chan; Fiona M F Lun; Attie T J I Go; Elizabeth T Lau; William W K To; Wing C Leung; Rebecca Y K Tang; Sidney K C Au-Yeung; Helena Lam; Yu Y Kung; Xiuqing Zhang; John M G van Vugt; Ryoko Minekawa; Mary H Y Tang; Jun Wang; Cees B M Oudejans; Tze K Lau; Kypros H Nicolaides; Y M Dennis Lo
Journal: BMJ Date: 2011-01-11

8. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.

Authors: Carol Jean Saunders; Neil Andrew Miller; Sarah Elizabeth Soden; Darrell Lee Dinwiddie; Aaron Noll; Noor Abu Alnadi; Nevene Andraws; Melanie LeAnn Patterson; Lisa Ann Krivohlavek; Joel Fellis; Sean Humphray; Peter Saffrey; Zoya Kingsbury; Jacqueline Claire Weir; Jason Betley; Russell James Grocock; Elliott Harrison Margulies; Emily Gwendolyn Farrow; Michael Artman; Nicole Pauline Safina; Joshua Erin Petrikin; Kevin Peter Hall; Stephen Francis Kingsmore
Journal: Sci Transl Med Date: 2012-10-03 Impact factor: 17.956

9. Incidental medical information in whole-exome sequencing.

Authors: Benjamin D Solomon; Donald W Hadley; Daniel E Pineda-Alvarez; Aparna Kamat; Jamie K Teer; Praveen F Cherukuri; Nancy F Hansen; Pedro Cruz; Alice C Young; Benjamin E Berkman; Settara C Chandrasekharappa; James C Mullikin
Journal: Pediatrics Date: 2012-05-14 Impact factor: 7.124

10. Screening using whole-body magnetic resonance imaging scanning: who wants an incidentaloma?

Authors: Rustam Al-Shahi Salman; William N Whiteley; Charles Warlow
Journal: J Med Screen Date: 2007 Impact factor: 2.136

59 in total

1. Next generation sequencing for newborn screening: are we there yet?

Authors: Eitan Friedman
Journal: Genet Res (Camb) Date: 2015-09-22 Impact factor: 1.588

Review 2. Population genetic testing for cancer susceptibility: founder mutations to genomes.

Authors: William D Foulkes; Bartha Maria Knoppers; Clare Turnbull
Journal: Nat Rev Clin Oncol Date: 2015-10-20 Impact factor: 66.675

3. Genetic Test Results and Disclosure to Family Members: Qualitative Interviews of Healthcare Professionals' Perceptions of Ethical and Professional Issues in France.

Authors: Diane D' Audiffret Van Haecke; Sandrine de Montgolfier
Journal: J Genet Couns Date: 2015-10-19 Impact factor: 2.537

Review 4. Return of genetic testing results in the era of whole-genome sequencing.

Authors: Bartha Maria Knoppers; Ma'n H Zawati; Karine Sénécal
Journal: Nat Rev Genet Date: 2015-08-04 Impact factor: 53.242

Review 5. Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing.

Authors: Jodi Warman Chardon; Chandree Beaulieu; Taila Hartley; Kym M Boycott; David A Dyment
Journal: Curr Neurol Neurosci Rep Date: 2015-09 Impact factor: 5.081

6. Whole-exome sequencing in intellectual disability; cost before and after a diagnosis.

Authors: Terry Vrijenhoek; Eline M Middelburg; Glen R Monroe; Koen L I van Gassen; Joost W Geenen; Anke M Hövels; Nine V Knoers; Hans Kristian Ploos van Amstel; Gerardus W J Frederix
Journal: Eur J Hum Genet Date: 2018-06-29 Impact factor: 4.246

7. Whole Genome Sequencing as a Genetic Test for Autism Spectrum Disorder: From Bench to Bedside and then Back Again.

Authors: Michael J Szego; Ma'n H Zawati
Journal: J Can Acad Child Adolesc Psychiatry Date: 2016-05-01

8. Compare and contrast: a cross-national study across UK, USA and Greek experts regarding return of incidental findings from clinical sequencing.

Authors: Elli G Gourna; Natalie Armstrong; Susan E Wallace
Journal: Eur J Hum Genet Date: 2015-06-10 Impact factor: 4.246

9. Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms.

Authors: Danya F Vears; Emilia Niemiec; Heidi Carmen Howard; Pascal Borry
Journal: Eur J Hum Genet Date: 2018-08-24 Impact factor: 4.246

10. Use of an electronic medical record to create the marshfield clinic twin/multiple birth cohort.

Authors: John Mayer; Terrie Kitchner; Zhan Ye; Zhiyi Zhou; Min He; Steven J Schrodi; Scott J Hebbring
Journal: Genet Epidemiol Date: 2014-09-22 Impact factor: 2.135