Publications by authors named "Erin Rooney Riggs"

14Publications

Response to Maya et al.

Genet Med 2020 Jul 28;22(7):1278-1279. Epub 2020 Apr 28.

Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA.

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http://dx.doi.org/10.1038/s41436-020-0796-3DOI Listing
July 2020

Points to consider for sharing variant-level information from clinical genetic testing with ClinVar.

Cold Spring Harb Mol Case Stud 2018 02 1;4(1). Epub 2018 Feb 1.

Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts 02139, USA.

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http://dx.doi.org/10.1101/mcs.a002345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5793773PMC
February 2018

Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics-Based Communities.

J Genet Couns 2018 04 13;27(2):470-480. Epub 2017 Nov 13.

Genomic Medicine Institute, Geisinger, 100 N Academy Ave, MC 26-20, Danville, PA, 17822, USA.

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http://dx.doi.org/10.1007/s10897-017-0170-zDOI Listing
April 2018

Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis.

Curr Genet Med Rep 2014 18;2:146-150. Epub 2014 Jul 18.

Autism and Developmental Medicine Institute, Geisinger Health System, 120 Hamm Drive, Suite 2A, Lewisburg, PA 17837 USA.

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http://dx.doi.org/10.1007/s40142-014-0048-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129219PMC
July 2014

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

Nucleic Acids Res 2014 Jan 11;42(Database issue):D966-74. Epub 2013 Nov 11.

Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Lawrence Berkeley National Laboratory, Mail Stop 84R0171, Berkeley, CA 94720, USA, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK, Department of Medical Genetics, Cambridge University Addenbrooke's Hospital, Cambridge CB2 2QQ, UK, Université Paul Sabatier, Faculté de Chirurgie Dentaire, CHU Toulouse, France, Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK, Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester M13 9WL, UK, Institute of Genetic Medicine. Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK, Department of Computer Science, University of Toronto, Ontario, Canada, Centre for Computational Medicine, Hospital for Sick Children, Toronto, Ontario, Canada, Department of Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Leeds LS2 9NS, UK, MRC Human Genetics Unit, MRC Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK, The Jackson Laboratory, Bar Harbor, ME 04609, USA, Center for Molecular and Vascular Biology, University of Leuven, Belgium, Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus, 24105 Kiel, Germany, NE Thames Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK, Drexel University College of Medicine, Philadelphia, PA 19102, USA, Department of Haematology, University of Cambridge and NHS Blood and Transplant Cambridge, CB2 0PT Cambridge, UK, Autism and Developmental Medicine Institute, Geisinger Health System

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http://dx.doi.org/10.1093/nar/gkt1026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965098PMC
January 2014