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Author Details

Christin D Collins
Emory University Department of Human Genetics Atlanta Georgia 30322.
2003
22
14
PMIDPaper TitleJournal TitlePublished Year
37838930Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test.Genet Med2024
37523181At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.JAMA Netw Open2023
35734998Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.Ann Clin Transl Neurol2022
33420347Response to Biesecker et al.Genet Med2021
33087887The role of clinical response to treatment in determining pathogenicity of genomic variants.Genet Med2021
30564623Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.Ann Clin Transl Neurol2018
30095202Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.Hum Mutat2018
30311378Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.Hum Mutat2018
29503925Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features.Am J Ophthalmol Case Rep2016
25380242A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.Ann Neurol2015
24564913Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis.Mol Autism2014
24801741A novel variant mutation for congenital dyserythropoietic anemia, type II.Blood Cells Mol Dis2014
22869036Comparative RNA editing in autistic and neurotypical cerebella.Mol Psychiatry2013
23625158Peripheral blood gene expression signature differentiates children with autism from unaffected siblings.Neurogenetics2013
23806237Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.Mol Genet Metab2013
22805248MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.J Child Neurol2013
23227143Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders.PLoS One2012
19339759Comment on "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients".J Clin Invest2009
17030152The application of genomic and proteomic technologies in predictive, preventive and personalized medicine.Vascul Pharmacol2006
16259622Lack of correlation between the levels of soluble cytotoxic T-lymphocyte associated antigen-4 (CTLA-4) and the CT-60 genotypes.J Autoimmune Dis2005
15699514Molecular pathways altered by insulin b9-23 immunization.Ann N Y Acad Sci2004
12717400Gene expression associated with interferon alfa antiviral activity in an HCV replicon cell line.Hepatology2003
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Collaborators

Louis M Kunkel
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Co-authored papers 6
Isaac S Kohane
Harvard Medical School
Co-authored papers 5
Malcolm G Campbell
Stanford University School of Medicine
Co-authored papers 3
Sek Won Kong
Boston Children's Hospital, Seoul National University, Seoul National University Hospital
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Ingrid A Holm
Harvard Medical School
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Jillian McCarthy
Montreal Neurological Institute, McGill University
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Stephanie J Brewster
Boston Children's Hospital
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Leonard Rappaport
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Boston Children's Hospital
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Scott Topper
Invitae Corporation
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Anne O'Donnell-Luria
Broad Institute of MIT and Harvard
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Kathryn R Lowe
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Mustafa Sahin
Harvard Medical School
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Erin Rooney Riggs
Geisinger Autism & Developmental Medicine Institute
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Miao He
Children's Hospital of Philadelphia
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Andrea Mora
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Jessica Egan
Phoenix Children's Hospital
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Brian H Shirts
Institute for Public Health Genetics, University of Washington
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Adrianna Saada
Center for Health Decision Science, Harvard School of Public Health
Co-authored papers 1
Heather K Harris
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Dilja D Krueger
University Medical Center, Georg-August University
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Release 1.2