Literature DB >> 33941876

Management of significant secondary genetic findings in an ophthalmic genetics clinic.

Julia Zhu1, Kirk A J Stephenson2, G Jane Farrar3, Jacqueline Turner4, James J O'Byrne5, David Keegan6.   

Abstract

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Year:  2021        PMID： 33941876      PMCID： PMC8956566          DOI： 10.1038/s41433-021-01557-3

Source DB:  PubMed          Journal:  Eye (Lond)        ISSN： 0950-222X            Impact factor:   3.775


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  5 in total

1.  Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Authors:  Sarah S Kalia; Kathy Adelman; Sherri J Bale; Wendy K Chung; Christine Eng; James P Evans; Gail E Herman; Sophia B Hufnagel; Teri E Klein; Bruce R Korf; Kent D McKelvey; Kelly E Ormond; C Sue Richards; Christopher N Vlangos; Michael Watson; Christa L Martin; David T Miller
Journal:  Genet Med       Date:  2016-11-17       Impact factor: 8.822

2.  Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Authors:  Keren J Carss; Gavin Arno; Marie Erwood; Jonathan Stephens; Alba Sanchis-Juan; Sarah Hull; Karyn Megy; Detelina Grozeva; Eleanor Dewhurst; Samantha Malka; Vincent Plagnol; Christopher Penkett; Kathleen Stirrups; Roberta Rizzo; Genevieve Wright; Dragana Josifova; Maria Bitner-Glindzicz; Richard H Scott; Emma Clement; Louise Allen; Ruth Armstrong; Angela F Brady; Jenny Carmichael; Manali Chitre; Robert H H Henderson; Jane Hurst; Robert E MacLaren; Elaine Murphy; Joan Paterson; Elisabeth Rosser; Dorothy A Thompson; Emma Wakeling; Willem H Ouwehand; Michel Michaelides; Anthony T Moore; Andrew R Webster; F Lucy Raymond
Journal:  Am J Hum Genet       Date:  2016-12-29       Impact factor: 11.025

3.  Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.

Authors:  David L Veenstra; Jonathan S Berg; Robert C Green; Leslie G Biesecker; Lucia A Hindorff; M Ragan Hart; Barbara B Biesecker; Carrie L Blout; Kurt D Christensen; Laura M Amendola; Katie L Bergstrom; Sawona Biswas; Kevin M Bowling; Kyle B Brothers; Laura K Conlin; Greg M Cooper; Matthew C Dulik; Kelly M East; Jessica N Everett; Candice R Finnila; Arezou A Ghazani; Marian J Gilmore; Katrina A B Goddard; Gail P Jarvik; Jennifer J Johnston; Tia L Kauffman; Whitley V Kelley; Joel B Krier; Katie L Lewis; Amy L McGuire; Carmit McMullen; Jeffrey Ou; Sharon E Plon; Heidi L Rehm; C Sue Richards; Edward J Romasko; Ane Miren Sagardia; Nancy B Spinner; Michelle L Thompson; Erin Turbitt; Jason L Vassy; Benjamin S Wilfond
Journal:  Genet Med       Date:  2019-05       Impact factor: 8.822

4.  Findings from a Genotyping Study of Over 1000 People with Inherited Retinal Disorders in Ireland.

Authors:  Laura Whelan; Adrian Dockery; Niamh Wynne; Julia Zhu; Kirk Stephenson; Giuliana Silvestri; Jacqueline Turner; James J O'Byrne; Matthew Carrigan; Peter Humphries; David Keegan; Paul F Kenna; G Jane Farrar
Journal:  Genes (Basel)       Date:  2020-01-16       Impact factor: 4.096

5.  Opportunistic genomic screening. Recommendations of the European Society of Human Genetics.

Authors:  Guido de Wert; Wybo Dondorp; Angus Clarke; Elisabeth M C Dequeker; Christophe Cordier; Zandra Deans; Carla G van El; Florence Fellmann; Ros Hastings; Sabine Hentze; Heidi Howard; Milan Macek; Alvaro Mendes; Chris Patch; Emmanuelle Rial-Sebbag; Vigdis Stefansdottir; Martina C Cornel; Francesca Forzano
Journal:  Eur J Hum Genet       Date:  2020-11-22       Impact factor: 4.246
  5 in total
  2 in total

1.  Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.

Authors:  Julia Zhu; Kirk A J Stephenson; Adrian Dockery; Jacqueline Turner; James J O'Byrne; Susan Fitzsimon; G Jane Farrar; D Ian Flitcroft; David J Keegan
Journal:  Genes (Basel)       Date:  2022-03-29       Impact factor: 4.141

2.  Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing.

Authors:  Kirk A J Stephenson; Julia Zhu; Adrian Dockery; Laura Whelan; Tomás Burke; Jacqueline Turner; James J O'Byrne; G Jane Farrar; David J Keegan
Journal:  Int J Mol Sci       Date:  2022-01-17       Impact factor: 5.923
  2 in total

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