The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine-Reference-Cited by-同舟云学术

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The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine

Published:2015-03-24 Issue:1 Volume:89 Page:10-19
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Bowdin S.C.¹²³,Hayeems R.Z.²⁴⁵,Monfared N.²,Cohn R.D.¹²⁶³⁷,Meyn M.S.¹²⁶³⁷

Affiliation:

1. Division of Clinical and Metabolic Genetics, Department of Paediatrics; The Hospital for Sick Children; Toronto Canada

2. Centre for Genetic Medicine, The Hospital for Sick Children; Toronto Canada

3. Department of Paediatrics; University of Toronto; Toronto Canada

4. Program in Child Health Evaluative Sciences, The Hospital for Sick Children; Toronto Canada

5. Institute of Health Policy Management and Evaluation; University of Toronto; Toronto Canada

6. Program in Genetics and Genome Biology; The Hospital for Sick Children; Toronto Canada

7. Department of Molecular Genetics; University of Toronto; Toronto Canada

Funder

Centre for Genetic Medicine, Hospital for Sick Children

Complete Genomics

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12579/fullpdf

Reference56 articles.

1. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units;Saunders;Sci Transl Med,2012

2. Molecular findings among patients referred for clinical whole-exome sequencing;Yang;JAMA,2014

3. Clinical exome performance for reporting secondary genetic findings;Park;Clin Chem,2015

4. Dealing with pseudogenes in molecular diagnostics in the next-generation sequencing era;Claes;Methods Mol Biol,2014

5. Genomic dark matter: the reliability of short read mapping illustrated by the genome mappability score;Lee;Bioinformatics,2012

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1. An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure;Journal of Neurodevelopmental Disorders;2024-07-05

2. Resolving unsolved whole-genome sequencing data in paediatric neurological disorders: a cohort study;Archives of Disease in Childhood;2024-05-22

3. Evaluation of a two-step model of opportunistic genomic screening;European Journal of Human Genetics;2024-03-25

4. Uncertain futures and unsolicited findings in pediatric genomic sequencing: guidelines for return of results in cases of developmental delay;BMC Medical Ethics;2023-11-11

5. Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen;International Journal of Neonatal Screening;2023-09-21

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