Search Results - "Bennett, Maren"
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Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico
Published in Npj genomic medicine (14-02-2019)“…Patients with rare, undiagnosed, or genetic disease (RUGD) often undergo years of serial testing, commonly referred to as the “diagnostic odyssey”. Patients in…”
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Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases
Published in Cell genomics (08-02-2023)“…Current standards in clinical genetics recognize the need to establish the validity of gene-disease relationships as a first step in the interpretation of…”
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Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial
Published in JAMA pediatrics (01-12-2021)“…Whole-genome sequencing (WGS) shows promise as a first-line genetic test for acutely ill infants, but widespread adoption and implementation requires evidence…”
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A clinical laboratory's experience using GeneMatcher—Building stronger gene–disease relationships
Published in Human mutation (01-06-2022)“…The use of whole‐genome sequencing (WGS) has accelerated the pace of gene discovery and highlighted the need for open and collaborative data sharing in the…”
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LeukoSeq Whole Genome Sequencing Clinical Trial: An Interim Analysis (P3.322)
Published in Neurology (10-04-2018)“…Abstract only…”
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Clinical genome sequencing in patients with suspected rare genetic disease in Peru
Published in Npj genomic medicine (28-10-2024)“…There is limited access to molecular genetic testing in most low- and middle-income countries. The iHope program provides clinical genome sequencing (cGS) to…”
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Biodiesel effects on particulate radiocarbon ( 14C) emissions from a diesel engine
Published in Journal of aerosol science (01-08-2008)“…The relative amount of 14C in a sample of atmospheric particulate matter (PM), defined as percent modern carbon (pMC), allows the Environmental Protection…”
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Adult autism policy: An analysis of current policy and legislation in the U.S
Published 01-01-2008“…The topic of autism has been gradually emerging as a primary focus for research, education, charities, etc. Much of the attention has been centered on…”
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Dissertation