Literature DB >> 23676617

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.   

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Year:  2013        PMID: 23676617      PMCID: PMC3658192          DOI: 10.1038/ejhg.2013.46

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


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  36 in total

1.  Gene sequencing. The race for the $1000 genome.

Authors:  Robert F Service
Journal:  Science       Date:  2006-03-17       Impact factor: 47.728

2.  Genetic testing in asymptomatic minors: Recommendations of the European Society of Human Genetics.

Authors: 
Journal:  Eur J Hum Genet       Date:  2009-03-11       Impact factor: 4.246

3.  The complete genome of an individual by massively parallel DNA sequencing.

Authors:  David A Wheeler; Maithreyan Srinivasan; Michael Egholm; Yufeng Shen; Lei Chen; Amy McGuire; Wen He; Yi-Ju Chen; Vinod Makhijani; G Thomas Roth; Xavier Gomes; Karrie Tartaro; Faheem Niazi; Cynthia L Turcotte; Gerard P Irzyk; James R Lupski; Craig Chinault; Xing-zhi Song; Yue Liu; Ye Yuan; Lynne Nazareth; Xiang Qin; Donna M Muzny; Marcel Margulies; George M Weinstock; Richard A Gibbs; Jonathan M Rothberg
Journal:  Nature       Date:  2008-04-17       Impact factor: 49.962

4.  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

5.  Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

Authors:  James R Lupski; Jeffrey G Reid; Claudia Gonzaga-Jauregui; David Rio Deiros; David C Y Chen; Lynne Nazareth; Matthew Bainbridge; Huyen Dinh; Chyn Jing; David A Wheeler; Amy L McGuire; Feng Zhang; Pawel Stankiewicz; John J Halperin; Chengyong Yang; Curtis Gehman; Danwei Guo; Rola K Irikat; Warren Tom; Nick J Fantin; Donna M Muzny; Richard A Gibbs
Journal:  N Engl J Med       Date:  2010-03-10       Impact factor: 91.245

6.  Analysis of genetic inheritance in a family quartet by whole-genome sequencing.

Authors:  Jared C Roach; Gustavo Glusman; Arian F A Smit; Chad D Huff; Robert Hubley; Paul T Shannon; Lee Rowen; Krishna P Pant; Nathan Goodman; Michael Bamshad; Jay Shendure; Radoje Drmanac; Lynn B Jorde; Leroy Hood; David J Galas
Journal:  Science       Date:  2010-03-10       Impact factor: 47.728

7.  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

8.  Personal genomes in progress: from the human genome project to the personal genome project.

Authors:  Jeantine E Lunshof; Jason Bobe; John Aach; Misha Angrist; Joseph V Thakuria; Daniel B Vorhaus; Margret R Hoehe; George M Church
Journal:  Dialogues Clin Neurosci       Date:  2010       Impact factor: 5.986

9.  Exome sequencing identifies the cause of a mendelian disorder.

Authors:  Sarah B Ng; Kati J Buckingham; Choli Lee; Abigail W Bigham; Holly K Tabor; Karin M Dent; Chad D Huff; Paul T Shannon; Ethylin Wang Jabs; Deborah A Nickerson; Jay Shendure; Michael J Bamshad
Journal:  Nat Genet       Date:  2009-11-13       Impact factor: 38.330

10.  Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing.

Authors:  T Schwarzbraun; A C Obenauf; A Langmann; U Gruber-Sedlmayr; K Wagner; M R Speicher; P M Kroisel
Journal:  J Med Genet       Date:  2009-03-05       Impact factor: 6.318

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  86 in total

1.  Public views on participating in newborn screening using genome sequencing.

Authors:  Yvonne Bombard; Fiona A Miller; Robin Z Hayeems; Carolyn Barg; Celine Cressman; June C Carroll; Brenda J Wilson; Julian Little; Denise Avard; Michael Painter-Main; Judith Allanson; Yves Giguere; Pranesh Chakraborty
Journal:  Eur J Hum Genet       Date:  2014-02-19       Impact factor: 4.246

2.  Regulating biobanking with children's tissue: a legal analysis and the experts' view.

Authors:  Elcke J Kranendonk; M Corrette Ploem; Raoul C M Hennekam
Journal:  Eur J Hum Genet       Date:  2015-04-15       Impact factor: 4.246

3.  Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned.

Authors:  Bich-Thu Duong; Ravi Savarirayan; Ingrid Winship
Journal:  Fam Cancer       Date:  2016-01       Impact factor: 2.375

4.  Which Results to Return: Subjective Judgments in Selecting Medically Actionable Genes.

Authors:  Gabriel Lázaro-Muñoz; John M Conley; Arlene M Davis; Anya E R Prince; R Jean Cadigan
Journal:  Genet Test Mol Biomarkers       Date:  2017-02-01

5.  Expanded carrier screening panels-does bigger mean better?

Authors:  Sara Wienke; Kimberly Brown; Meagan Farmer; Charlie Strange
Journal:  J Community Genet       Date:  2013-09-24

Review 6.  New technologies to uncover the molecular basis of disorders of sex development.

Authors:  Hayk Barseghyan; Emmanuèle C Délot; Eric Vilain
Journal:  Mol Cell Endocrinol       Date:  2018-04-13       Impact factor: 4.102

7.  Towards a European consensus for reporting incidental findings during clinical NGS testing.

Authors:  Jayne Y Hehir-Kwa; Mireille Claustres; Ros J Hastings; Conny van Ravenswaaij-Arts; Gabrielle Christenhusz; Maurizio Genuardi; Béla Melegh; Anne Cambon-Thomsen; Philippos Patsalis; Joris Vermeesch; Martina C Cornel; Beverly Searle; Aarno Palotie; Ettore Capoluongo; Borut Peterlin; Xavier Estivill; Peter N Robinson
Journal:  Eur J Hum Genet       Date:  2015-06-03       Impact factor: 4.246

8.  Consent to epistemic interventions: a contribution to the debate on the right (not) to know.

Authors:  Niels Nijsingh
Journal:  Med Health Care Philos       Date:  2016-03

9.  It is time to take timing seriously in clinical genetics.

Authors:  György Kosztolányi
Journal:  Eur J Hum Genet       Date:  2014-12-24       Impact factor: 4.246

10.  Incidental or secondary findings: an integrative and patient-inclusive approach to the current debate.

Authors:  Marlies Saelaert; Heidi Mertes; Elfride De Baere; Ignaas Devisch
Journal:  Eur J Hum Genet       Date:  2018-07-03       Impact factor: 4.246

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