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Christin D. Collins
Observed names:
C Collins,
CHRISTIN D. COLLINS,
Christin Collins,
Christin D Collins
Institution:
Revvity (United States)
Observed institutions:
Boston Children's Hospital,
Howard Hughes Medical Institute,
Harvard University,
Emory University,
Augusta University,
Augusta University Health,
PerkinElmer (United States),
Revvity (United States)
show all 8
OpenAlex ID:
A5068039121
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients
2018
·
Babi Ramesh Reddy Nallamilli
, Samya Chakravorty
, et al.
·
Annals of Clinical and Translational Neurology
·
181
PDF
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield
2014
·
Arunkanth Ankala
, Cristina da Silva
, et al.
·
Annals of Neurology
·
167
Characteristics and Predictive Value of Blood Transcriptome Signature in Males with Autism Spectrum Disorders
2012
·
Sek Won Kong
, Christin D. Collins
, et al.
·
PLoS ONE
·
167
PDF
Gene Expression Associated With Interferon Alfa Antiviral Activity in An Hcv Replicon Cell Line
2003
·
Haizhen Zhu
, Hongshan Zhao
, et al.
·
Hepatology
·
104
PDF
Comparative RNA editing in autistic and neurotypical cerebella
2012
·
A Eran
, J B Li
, et al.
·
Molecular Psychiatry
·
70
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach
2018
·
Steven M. Harrison
, Jill S. Dolinksy
, et al.
·
Human Mutation
·
64
PDF
MCT8 Deficiency
2012
·
Davide Tonduti
, Adeline Vanderver
, et al.
·
Journal of Child Neurology
·
60
Lack of correlation between the levels of soluble cytotoxic T-lymphocyte associated antigen-4 (CTLA-4) and the CT-60 genotypes
2005
·
Sharad Purohit
, Robert Podolsky
, et al.
·
Journal of Autoimmune Diseases
·
56
PDF
Molecular diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing
2013
·
Melanie A. Jones
, Devin Rhodenizer
, et al.
·
Molecular Genetics and Metabolism
·
44
Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy
2022
·
Christine C. Bruels
, Hannah R. Littel
, et al.
·
Annals of Clinical and Translational Neurology
·
42
PDF
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar
2018
·
Erin R. Riggs
, Tristan Nelson
, et al.
·
Human Mutation
·
38
PDF
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children
2023
·
Jorune Balciuniene
, Ruby Liu
, et al.
·
JAMA Network Open
·
24
PDF
Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test
2023
·
Fen Guo
, Ruby Liu
, et al.
·
Genetics in Medicine
·
23
PDF
The role of clinical response to treatment in determining pathogenicity of genomic variants
2020
·
Joseph J. Shen
, Saskia B. Wortmann
, et al.
·
Genetics in Medicine
·
22
PDF
Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis
2014
·
Sek Won Kong
, Mustafa Sahin
, et al.
·
Molecular Autism
·
19
PDF
Comment on “Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients”
2009
·
Alal Eran
, Kaitlin R. Graham
, et al.
·
Journal of Clinical Investigation
·
9
PDF
Molecular Pathways Altered by Insulin B9‐23 Immunization
2004
·
SARAH E. ECKENRODE
, QING‐GUO RUAN
, et al.
·
Annals of the New York Academy of Sciences
·
8
Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features
2016
·
Rossana L. Sanchez
, Jiong Yan
, et al.
·
American Journal of Ophthalmology Case Reports
·
5
PDF
Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing
2024
·
Fen Guo
, Ruby Liu
, et al.
·
Human Mutation
·
3
PDF
A novel variant mutation for congenital dyserythropoietic anemia, type II
2014
·
Joo Y. Song
, Anjali Pawar
, et al.
·
Blood Cells Molecules and Diseases
·
3
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent
2024
·
Arul J. Duraisamy
, Ruby Liu
, et al.
·
Journal of Molecular Diagnostics
·
2
PDF
P638: Genomic breakpoint analysis facilitates identification of complex rearrangements and re-classification of non-tandem duplications in the DMD gene
2024
·
Naga Guruju
, Vanessa Jump
, et al.
·
Genetics in Medicine Open
·
2
15. A validation study of copy number variant (CNVs) detection to replace constitutional microarray from low resolution whole genome sequencing data
2018
·
Alka Chaubey
, C. Alexander Valencia
, et al.
·
Cancer Genetics
·
2
P729: Identification of multiple diagnoses in pediatric patients through genome sequencing
2024
·
Christin Collins
, Fen Guo
, et al.
·
Genetics in Medicine Open
·
1
PDF
eP355: Repeat expansion disorders screening by genome sequencing: Strategy and stumbling blocks
2022
·
Fen Guo
, Abhinav Mathur
, et al.
·
Genetics in Medicine
·
1
PDF
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Works count:
59
Citation count:
1,118
H-index:
15
I10-index:
15
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