Kingsmore SF - Search Results

1

FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation.

Milko LV, Chen F, Chan K, Brower AM, Agrawal PB, Beggs AH, Berg JS, Brenner SE, Holm IA, Koenig BA, Parad RB, Powell CM, Kingsmore SF. Milko LV, et al. Among authors: kingsmore sf. NPJ Genom Med. 2019 Dec 10;4:32. doi: 10.1038/s41525-019-0105-8. eCollection 2019. NPJ Genom Med. 2019. PMID: 31839987 Free PMC article. Review.

2

USE OF GENOME DATA IN NEWBORNS AS A STARTING POINT FOR LIFE-LONG PRECISION MEDICINE.

Brenner SE, Kingsmore S, Mooney SD, Nussbaum R, Puck J. Brenner SE, et al. Pac Symp Biocomput. 2016;21:568-75. Pac Symp Biocomput. 2016. PMID: 26776219 Free article.

3

Newborn Sequencing in Genomic Medicine and Public Health.

Berg JS, Agrawal PB, Bailey DB Jr, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL. Berg JS, et al. Among authors: kingsmore sf. Pediatrics. 2017 Feb;139(2):e20162252. doi: 10.1542/peds.2016-2252. Epub 2017 Jan 17. Pediatrics. 2017. PMID: 28096516 Free PMC article. Clinical Trial.

4

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.

Clark MM, Stark Z, Farnaes L, Tan TY, White SM, Dimmock D, Kingsmore SF. Clark MM, et al. Among authors: kingsmore sf. NPJ Genom Med. 2018 Jul 9;3:16. doi: 10.1038/s41525-018-0053-8. eCollection 2018. NPJ Genom Med. 2018. PMID: 30002876 Free PMC article.

5

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.

James KN, Clark MM, Camp B, Kint C, Schols P, Batalov S, Briggs B, Veeraraghavan N, Chowdhury S, Kingsmore SF. James KN, et al. Among authors: kingsmore sf. NPJ Genom Med. 2020 Aug 11;5:33. doi: 10.1038/s41525-020-00140-1. eCollection 2020. NPJ Genom Med. 2020. PMID: 32821428 Free PMC article.

6

Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing.

Kingsmore SF, Henderson A, Owen MJ, Clark MM, Hansen C, Dimmock D, Chambers CD, Jeliffe-Pawlowski LL, Hobbs C. Kingsmore SF, et al. NPJ Genom Med. 2020 Nov 2;5:49. doi: 10.1038/s41525-020-00155-8. eCollection 2020. NPJ Genom Med. 2020. PMID: 33154820 Free PMC article.

7

Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study.

Maron JL, Kingsmore SF, Wigby K, Chowdhury S, Dimmock D, Poindexter B, Suhrie K, Vockley J, Diacovo T, Gelb BD, Stroustrup A, Powell CM, Trembath A, Gallen M, Mullen TE, Tanpaiboon P, Reed D, Kurfiss A, Davis JM. Maron JL, et al. Among authors: kingsmore sf. JAMA Pediatr. 2021 May 1;175(5):e205906. doi: 10.1001/jamapediatrics.2020.5906. Epub 2021 May 3. JAMA Pediatr. 2021. PMID: 33587123 Free PMC article.

8

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.

De La Vega FM, Chowdhury S, Moore B, Frise E, McCarthy J, Hernandez EJ, Wong T, James K, Guidugli L, Agrawal PB, Genetti CA, Brownstein CA, Beggs AH, Löscher BS, Franke A, Boone B, Levy SE, Õunap K, Pajusalu S, Huentelman M, Ramsey K, Naymik M, Narayanan V, Veeraraghavan N, Billings P, Reese MG, Yandell M, Kingsmore SF. De La Vega FM, et al. Among authors: kingsmore sf. Genome Med. 2021 Oct 14;13(1):153. doi: 10.1186/s13073-021-00965-0. Genome Med. 2021. PMID: 34645491 Free PMC article.

9

Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.

Twist GP, Gaedigk A, Miller NA, Farrow EG, Willig LK, Dinwiddie DL, Petrikin JE, Soden SE, Herd S, Gibson M, Cakici JA, Riffel AK, Leeder JS, Dinakarpandian D, Kingsmore SF. Twist GP, et al. Among authors: kingsmore sf. NPJ Genom Med. 2016 Jan 13;1:15007. doi: 10.1038/npjgenmed.2015.7. eCollection 2016. NPJ Genom Med. 2016. PMID: 29263805 Free PMC article.

10

Clinical detection of deletion structural variants in whole-genome sequences.

Noll AC, Miller NA, Smith LD, Yoo B, Fiedler S, Cooley LD, Willig LK, Petrikin JE, Cakici J, Lesko J, Newton A, Detherage K, Thiffault I, Saunders CJ, Farrow EG, Kingsmore SF. Noll AC, et al. Among authors: kingsmore sf. NPJ Genom Med. 2016 Aug 3;1:16026. doi: 10.1038/npjgenmed.2016.26. eCollection 2016. NPJ Genom Med. 2016. PMID: 29263817 Free PMC article.

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