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Year Number of Results
2000 1
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2008 4
2009 7
2010 12
2011 4
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2013 2
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2019 2
2020 4
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Page 1
Fragment Length of Circulating Tumor DNA.
Underhill HR, Kitzman JO, Hellwig S, Welker NC, Daza R, Baker DN, Gligorich KM, Rostomily RC, Bronner MP, Shendure J. Underhill HR, et al. PLoS Genet. 2016 Jul 18;12(7):e1006162. doi: 10.1371/journal.pgen.1006162. eCollection 2016 Jul. PLoS Genet. 2016. PMID: 27428049 Free PMC article.
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
Carlston CM, O'Donnell-Luria AH, Underhill HR, Cummings BB, Weisburd B, Minikel EV, Birnbaum DP; Exome Aggregation Consortium; Tvrdik T, MacArthur DG, Mao R. Carlston CM, et al. Among authors: underhill hr. Hum Mutat. 2017 May;38(5):517-523. doi: 10.1002/humu.23203. Epub 2017 Mar 21. Hum Mutat. 2017. PMID: 28229513 Free PMC article. Review.
VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects.
Seu KG, Trump LR, Emberesh S, Lorsbach RB, Johnson C, Meznarich J, Underhill HR, Chou ST, Sakthivel H, Nassar NN, Seu KJ, Blanc L, Zhang W, Lutzko CM, Kalfa TA. Seu KG, et al. Among authors: underhill hr. Am J Hum Genet. 2020 Dec 3;107(6):1149-1156. doi: 10.1016/j.ajhg.2020.10.013. Epub 2020 Nov 12. Am J Hum Genet. 2020. PMID: 33186543 Free PMC article.
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.
Ng BG, Underhill HR, Palm L, Bengtson P, Rozet JM, Gerber S, Munnich A, Zanlonghi X, Stevens CA, Kircher M, Nickerson DA, Buckingham KJ, Josephson KD, Shendure J, Bamshad MJ; University of Washington Center for Mendelian Genomics; Freeze HH, Eklund EA. Ng BG, et al. Among authors: underhill hr. JIMD Rep. 2019;44:85-92. doi: 10.1007/8904_2018_128. Epub 2018 Aug 17. JIMD Rep. 2019. PMID: 30117111 Free PMC article.
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.
Brunelli L, Jenkins SM, Gudgeon JM, Bleyl SB, Miller CE, Tvrdik T, Dames SA, Ostrander B, Daboub JAF, Zielinski BA, Zinkhan EK, Underhill HR, Wilson T, Bonkowsky JL, Yost CC, Botto LD, Jenkins J, Pysher TJ, Bayrak-Toydemir P, Mao R. Brunelli L, et al. Among authors: underhill hr. Mol Genet Genomic Med. 2019 Jul;7(7):e00796. doi: 10.1002/mgg3.796. Epub 2019 Jun 13. Mol Genet Genomic Med. 2019. PMID: 31192527 Free PMC article.
45 results