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74 results
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Filters applied: . Clear all The following terms were ignored: (, ( Quoted phrases not found: "Jonathan Van Den Berg", "Jonathan S Van Den Berg"
Page 1
Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.
Roman TS, Crowley SB, Roche MI, Foreman AKM, O'Daniel JM, Seifert BA, Lee K, Brandt A, Gustafson C, DeCristo DM, Strande NT, Ramkissoon L, Milko LV, Owen P, Roy S, Xiong M, Paquin RS, Butterfield RM, Lewis MA, Souris KJ, Bailey DB Jr, Rini C, Booker JK, Powell BC, Weck KE, Powell CM, Berg JS. Roman TS, et al. Am J Hum Genet. 2020 Oct 1;107(4):596-611. doi: 10.1016/j.ajhg.2020.08.001. Epub 2020 Aug 26. Am J Hum Genet. 2020. PMID: 32853555 Free PMC article.
We enrolled healthy newborns and children with metabolic diseases or hearing loss (106 participants total). ES confirmed the participant's underlying diagnosis in 15 out of 17 (88%) children with metabolic disorders and in 5 out of 28 (18%) children with hearing loss. ...
We enrolled healthy newborns and children with metabolic diseases or hearing loss (106 participants total). ES confirmed the participant' …
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
Brnich SE, Abou Tayoun AN, Couch FJ, Cutting GR, Greenblatt MS, Heinen CD, Kanavy DM, Luo X, McNulty SM, Starita LM, Tavtigian SV, Wright MW, Harrison SM, Biesecker LG, Berg JS; Clinical Genome Resource Sequence Variant Interpretation Working Group. Brnich SE, et al. Genome Med. 2019 Dec 31;12(1):3. doi: 10.1186/s13073-019-0690-2. Genome Med. 2019. PMID: 31892348 Free PMC article.
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.
Preston CG, Wright MW, Madhavrao R, Harrison SM, Goldstein JL, Luo X, Wand H, Wulf B, Cheung G, Mandell ME, Tong H, Cheng S, Iacocca MA, Pineda AL, Popejoy AB, Dalton K, Zhen J, Dwight SS, Babb L, DiStefano M, O'Daniel JM, Lee K, Riggs ER, Zastrow DB, Mester JL, Ritter DI, Patel RY, Subramanian SL, Milosavljevic A, Berg JS, Rehm HL, Plon SE, Cherry JM, Bustamante CD, Costa HA; Clinical Genome Resource (ClinGen). Preston CG, et al. Genome Med. 2022 Jan 18;14(1):6. doi: 10.1186/s13073-021-01004-8. Genome Med. 2022. PMID: 35039090 Free PMC article.
Rapid pyritization in the presence of a sulfur/sulfate-reducing bacterial consortium.
Berg JS, Duverger A, Cordier L, Laberty-Robert C, Guyot F, Miot J. Berg JS, et al. Sci Rep. 2020 May 19;10(1):8264. doi: 10.1038/s41598-020-64990-6. Sci Rep. 2020. PMID: 32427954 Free PMC article.
Our results suggest that rates of pyritization vs. vivianite formation are regulated by SRB activity at the cellular scale, which enhances phosphate release into the aqueous phase by increased efficiency of iron sulfide precipitation, and thus that these microorganisms strongly i …
Our results suggest that rates of pyritization vs. vivianite formation are regulated by SRB activity at the cellular scale, which enhances p …
Burden or benefit? Effects of providing education about and the option to request additional genomic findings from diagnostic exome sequencing: A randomized controlled trial.
Rini C, Roche MI, Lin FC, Foreman AKM, Khan CM, Griesemer I, Waltz M, Lee K, O'Daniel JM, Evans JP, Berg JS, Henderson GE. Rini C, et al. Patient Educ Couns. 2021 Dec;104(12):2989-2998. doi: 10.1016/j.pec.2021.04.026. Epub 2021 Apr 29. Patient Educ Couns. 2021. PMID: 33966955 Clinical Trial.
Values clarification and parental decision making about newborn genomic sequencing.
Peinado S, Paquin RS, Rini C, Roche M, Butterfield RM, Berg JS, Powell CM, Bailey DB, Lewis MA. Peinado S, et al. Health Psychol. 2020 Apr;39(4):335-344. doi: 10.1037/hea0000829. Epub 2019 Dec 30. Health Psychol. 2020. PMID: 31886693 Free PMC article. Clinical Trial.
We also examined whether the effect of values clarification varied depending on one's health literacy level. METHOD: In an online experiment, women and men aged 18 to 44 who were either pregnant or had a pregnant partner, were currently trying to get pregnant, or were prep …
We also examined whether the effect of values clarification varied depending on one's health literacy level. METHOD: In an online exp …
Diagnostic performance of an algorithm for automated large vessel occlusion detection on CT angiography.
Luijten SPR, Wolff L, Duvekot MHC, van Doormaal PJ, Moudrous W, Kerkhoff H, Lycklama A Nijeholt GJ, Bokkers RPH, Yo LSF, Hofmeijer J, van Zwam WH, van Es ACGM, Dippel DWJ, Roozenbeek B, van der Lugt A; MR CLEAN Registry and PRESTO investigators. Luijten SPR, et al. J Neurointerv Surg. 2021 Aug 19:neurintsurg-2021-017842. doi: 10.1136/neurintsurg-2021-017842. Online ahead of print. J Neurointerv Surg. 2021. PMID: 34413245
74 results