Integration of stakeholder engagement from development to dissemination in genomic medicine research: Approaches and outcomes from the CSER Consortium.
Genet Med.
2022 May;24(5):1108-1119. doi: 10.1016/j.gim.2022.01.008. Epub 2022 Feb 25. PubMed PMID:
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Genome sequencing as a first-line diagnostic test for hospitalized infants.
Genet Med.
2022 Apr;24(4):851-861. doi: 10.1016/j.gim.2021.11.020. Epub 2021 Nov 27. PubMed PMID:
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US private payers' perspectives on insurance coverage for genome sequencing versus exome sequencing: A study by the Clinical Sequencing Evidence-Generating Research Consortium (CSER).
Genet Med.
2022 Jan;24(1):238-244. doi: 10.1016/j.gim.2021.08.009. Epub 2021 Nov 30. PubMed PMID:
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Conceptualization of utility in translational clinical genomics research.
Am J Hum Genet.
2021 Nov 4;108(11):2027-2036. doi: 10.1016/j.ajhg.2021.08.013. Epub 2021 Oct 22. Review. PubMed PMID:
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Pharmacogenetic Predictors of Cannabidiol Response and Tolerability in Treatment-Resistant Epilepsy.
Clin Pharmacol Ther.
2021 Nov;110(5):1368-1380. doi: 10.1002/cpt.2408. Epub 2021 Sep 22. PubMed PMID:
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NIH Funding of Researchers in Surgery: Decreased Career Development Awards Over Time.
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2021 Oct;266:6-12. doi: 10.1016/j.jss.2021.02.053. Epub 2021 May 8. PubMed PMID:
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Opportunity for Genotype-Guided Prescribing Among Adult Patients in 11 US Health Systems.
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2021 Jul;110(1):179-188. doi: 10.1002/cpt.2161. Epub 2021 Feb 16. PubMed PMID:
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Risk Factors for Major Hemorrhage Among Patients Receiving Dabigatran Across the Spectrum of CKD Not Requiring Dialysis Therapy.
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2021 Jul;78(1):151-153. doi: 10.1053/j.ajkd.2020.09.018. Epub 2020 Dec 2. PubMed PMID:
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A review and definition of 'usual care' in genetic counseling trials to standardize use in research.
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2021 Feb;30(1):42-50. doi: 10.1002/jgc4.1363. Epub 2020 Dec 5. Review. PubMed PMID:
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PEA15 loss of function and defective cerebral development in the domestic cat.
PLoS Genet.
2020 Dec;16(12):e1008671. doi: 10.1371/journal.pgen.1008671. eCollection 2020 Dec. PubMed PMID:
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Developmental Genetics of Color Pattern Establishment in Cats. [preprint]. 2020 November. Available from: https://www.biorxiv.org/content/10.1101/2020.11.16.385609v1.full. doi: https://doi.org/10.1101/2020.11.16.385609.
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.
Am J Hum Genet.
2020 Nov 5;107(5):932-941. doi: 10.1016/j.ajhg.2020.09.011. Epub 2020 Oct 26. PubMed PMID:
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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Eur J Hum Genet.
2020 Oct;28(10):1422-1431. doi: 10.1038/s41431-020-0654-4. Epub 2020 Jun 1. PubMed PMID:
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Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
Epilepsia.
2020 Jul;61(7):e71-e78. doi: 10.1111/epi.16582. Epub 2020 Jul 9. PubMed PMID:
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A Deletion in GDF7 is Associated with a Heritable Forebrain Commissural Malformation Concurrent with Ventriculomegaly and Interhemispheric Cysts in Cats.
Genes (Basel).
2020 Jun 19;11(6). doi: 10.3390/genes11060672. PubMed PMID:
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De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
Eur J Hum Genet.
2020 Jun;28(6):770-782. doi: 10.1038/s41431-020-0571-6. Epub 2020 Jan 31. Review. PubMed PMID:
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BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
Hum Mutat.
2020 May;41(5):921-925. doi: 10.1002/humu.23992. Epub 2020 Feb 7. PubMed PMID:
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Improvement in Kidney Function After Ventricular Assist Device Implantation and Its Influence on Thromboembolism, Hemorrhage, and Mortality.
ASAIO J.
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Long live the king: chromosome-level assembly of the lion (Panthera leo) using linked-read, Hi-C, and long-read data.
BMC Biol.
2020 Jan 8;18(1):3. doi: 10.1186/s12915-019-0734-5. PubMed PMID:
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MRLR: unraveling high-resolution meiotic recombination by linked reads.
Bioinformatics.
2020 Jan 1;36(1):10-16. doi: 10.1093/bioinformatics/btz503. PubMed PMID:
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Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Genet Med.
2019 Dec;21(12):2713-2722. doi: 10.1038/s41436-019-0557-3. Epub 2019 Jun 3. PubMed PMID:
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Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studies.
Genet Med.
2019 Dec;21(12):2781-2790. doi: 10.1038/s41436-019-0565-3. Epub 2019 Jun 13. PubMed PMID:
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Clinical utility of genomic sequencing.
Curr Opin Pediatr.
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Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
Brain.
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Participant Engagement in Translational Genomics Research: Respect for Persons-and Then Some.
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Consent for clinical genome sequencing: considerations from the Clinical Sequencing Exploratory Research Consortium.
Per Med.
2019 Jul;16(4):325-333. doi: 10.2217/pme-2018-0076. Epub 2019 Jul 17. PubMed PMID:
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Periodic patterns in Rodentia: Development and evolution.
Exp Dermatol.
2019 Apr;28(4):509-513. doi: 10.1111/exd.13852. Epub 2019 Jan 15. PubMed PMID:
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First genome-wide CNV mapping in FELIS CATUS using next generation sequencing data.
BMC Genomics.
2018 Dec 10;19(1):895. doi: 10.1186/s12864-018-5297-2. PubMed PMID:
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MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.
PLoS Genet.
2017 Aug;13(8):e1006957. doi: 10.1371/journal.pgen.1006957. eCollection 2017 Aug. PubMed PMID:
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Comparative tissue transcriptomics highlights dynamic differences among tissues but conserved metabolic transcript prioritization in preparation for arousal from torpor.
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2017 Jul;187(5-6):735-748. doi: 10.1007/s00360-017-1073-x. Epub 2017 Mar 23. PubMed PMID:
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Inference on the Genetic Basis of Eye and Skin Color in an Admixed Population via Bayesian Linear Mixed Models.
Genetics.
2017 Jun;206(2):1113-1126. doi: 10.1534/genetics.116.193383. Epub 2017 Apr 4. PubMed PMID:
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Genomic diagnosis for children with intellectual disability and/or developmental delay.
Genome Med.
2017 May 30;9(1):43. doi: 10.1186/s13073-017-0433-1. PubMed PMID:
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A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
Genet Med.
2017 May;19(5):575-582. doi: 10.1038/gim.2016.152. Epub 2016 Nov 3. PubMed PMID:
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Early-Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black-Footed Cats (Felis nigripes).
Sci Rep.
2017 Mar 21;7:43918. doi: 10.1038/srep43918. PubMed PMID:
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Precision Medicine in Cats: Novel Niemann-Pick Type C1 Diagnosed by Whole-Genome Sequencing.
J Vet Intern Med.
2017 Mar;31(2):539-544. doi: 10.1111/jvim.14599. Epub 2017 Feb 24. PubMed PMID:
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Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results.
Genet Med.
2017 Mar;19(3):337-344. doi: 10.1038/gim.2016.110. Epub 2016 Aug 25. PubMed PMID:
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Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
Am J Hum Genet.
2017 Jan 5;100(1):117-127. doi: 10.1016/j.ajhg.2016.11.012. Epub 2016 Dec 22. PubMed PMID:
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A Hox-Embedded Long Noncoding RNA: Is It All Hot Air?.
PLoS Genet.
2016 Dec;12(12):e1006485. doi: 10.1371/journal.pgen.1006485. eCollection 2016 Dec. PubMed PMID:
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Emerging Strategies for Developing Next-Generation Protein Therapeutics for Cancer Treatment.
Trends Pharmacol Sci.
2016 Dec;37(12):993-1008. doi: 10.1016/j.tips.2016.10.005. Epub 2016 Nov 9. Review. PubMed PMID:
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Bringing PLOS Genetics Editors to Preprint Servers.
PLoS Genet.
2016 Dec;12(12):e1006448. doi: 10.1371/journal.pgen.1006448. eCollection 2016 Dec. PubMed PMID:
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Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.
Neurol Genet.
2016 Dec;2(6):e118. doi: 10.1212/NXG.0000000000000118. eCollection 2016 Dec. PubMed PMID:
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De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.
Neurol Genet.
2016 Dec;2(6):e120. doi: 10.1212/NXG.0000000000000120. eCollection 2016 Dec. PubMed PMID:
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Developmental mechanisms of stripe patterns in rodents.
Nature.
2016 Nov 24;539(7630):518-523. doi: 10.1038/nature20109. Epub 2016 Nov 2. PubMed PMID:
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Evolution: Sex, Diet and Red Ketocarotenoids.
Curr Biol.
2016 Nov 7;26(21):R1145-R1147. doi: 10.1016/j.cub.2016.09.032. PubMed PMID:
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The Language of Genetics In the Interviews of Jane Gitschier.
PLoS Genet.
2016 Jun;12(6):e1006115. doi: 10.1371/journal.pgen.1006115. eCollection 2016 Jun. PubMed PMID:
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Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Am J Hum Genet.
2016 Jun 2;98(6):1067-1076. doi: 10.1016/j.ajhg.2016.03.024. Epub 2016 May 12. PubMed PMID:
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Evolution: How the zebrafish got its stripes.
Elife.
2016 Feb 15;5. doi: 10.7554/eLife.14239. PubMed PMID:
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Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses.
Nat Genet.
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When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority.
J Pediatr.
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PLOS Genetics Data Sharing Policy: In Pursuit of Functional Utility.
PLoS Genet.
2015 Dec;11(12):e1005716. doi: 10.1371/journal.pgen.1005716. eCollection 2015 Dec. PubMed PMID:
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