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Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities.
Snijders Blok L, Vino A, den Hoed J, Underhill HR, Monteil D, Li H, Reynoso Santos FJ, Chung WK, Amaral MD, Schnur RE, Santiago-Sim T, Si Y, Brunner HG, Kleefstra T, Fisher SE. Snijders Blok L, et al. Among authors: underhill hr. Genet Med. 2021 Mar;23(3):534-542. doi: 10.1038/s41436-020-01016-6. Epub 2020 Oct 28. Genet Med. 2021. PMID: 33110267 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.
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.
Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR).
Niss O, Lorsbach RB, Berger M, Chonat S, McLemore M, Buchbinder D, McCavit T, Shaffer LG, Simpson J, Schwartz JH, Meznarich J, Emberesh M, Seu KG, Zhang W, Kalfa TA; CDAR consortium. Niss O, et al. Blood Cells Mol Dis. 2021 Mar;87:102534. doi: 10.1016/j.bcmd.2020.102534. Epub 2020 Dec 24. Blood Cells Mol Dis. 2021. PMID: 33401150 Free PMC article. Clinical Trial.
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.
Detection of circulating tumor DNA without a tumor-informed search using next-generation sequencing is a prognostic biomarker in pancreatic ductal adenocarcinoma.
Affolter KE, Hellwig S, Nix DA, Bronner MP, Thomas A, Fuertes CL, Hamil CL, Garrido-Laguna I, Scaife CL, Mulvihill SJ, Underhill HR. Affolter KE, et al. Among authors: underhill hr. Neoplasia. 2021 Sep;23(9):859-869. doi: 10.1016/j.neo.2021.06.005. Epub 2021 Jul 21. Neoplasia. 2021. PMID: 34298235 Free PMC article.
Automated size selection for short cell-free DNA fragments enriches for circulating tumor DNA and improves error correction during next generation sequencing.
Hellwig S, Nix DA, Gligorich KM, O'Shea JM, Thomas A, Fuertes CL, Bhetariya PJ, Marth GT, Bronner MP, Underhill HR. Hellwig S, et al. Among authors: underhill hr. PLoS One. 2018 Jul 25;13(7):e0197333. doi: 10.1371/journal.pone.0197333. eCollection 2018. PLoS One. 2018. PMID: 30044795 Free PMC article.
56 results