Ulloa RH - Search Results

1

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

Diaz-Horta O, Duman D, Foster J 2nd, Sırmacı A, Gonzalez M, Mahdieh N, Fotouhi N, Bonyadi M, Cengiz FB, Menendez I, Ulloa RH, Edwards YJ, Züchner S, Blanton S, Tekin M. Diaz-Horta O, et al. Among authors: ulloa rh. PLoS One. 2012;7(11):e50628. doi: 10.1371/journal.pone.0050628. Epub 2012 Nov 30. PLoS One. 2012. PMID: 23226338 Free PMC article.

2

GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis.

Gonzalez MA, Lebrigio RF, Van Booven D, Ulloa RH, Powell E, Speziani F, Tekin M, Schüle R, Züchner S. Gonzalez MA, et al. Among authors: ulloa rh. Hum Mutat. 2013 Jun;34(6):842-6. doi: 10.1002/humu.22305. Epub 2013 Apr 3. Hum Mutat. 2013. PMID: 23463597 Free PMC article.

3

The mtDNA mutation spectrum of the progeroid Polg mutator mouse includes abundant control region multimers.

Williams SL, Huang J, Edwards YJ, Ulloa RH, Dillon LM, Prolla TA, Vance JM, Moraes CT, Züchner S. Williams SL, et al. Among authors: ulloa rh. Cell Metab. 2010 Dec 1;12(6):675-82. doi: 10.1016/j.cmet.2010.11.012. Cell Metab. 2010. PMID: 21109200 Free PMC article.

4

Whole Genome Sequencing and a New Bioinformatics Platform Allow for Rapid Gene Identification in D. melanogaster EMS Screens.

Gonzalez MA, Van Booven D, Hulme W, Ulloa RH, Lebrigio RF, Osterloh J, Logan M, Freeman M, Zuchner S. Gonzalez MA, et al. Among authors: ulloa rh. Biology (Basel). 2012 Dec 5;1(3):766-77. doi: 10.3390/biology1030766. Biology (Basel). 2012. PMID: 24832518 Free PMC article.

5

PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients.

Cappadocia J, Aiello LB, Kelley MJ, Katona BW, Maxwell KN; Penn Medicine BioBank, Regeneron Genetics Center. Cappadocia J, et al. Genet Med Open. 2024 Jun 10;2:101858. doi: 10.1016/j.gimo.2024.101858. eCollection 2024. Genet Med Open. 2024. PMID: 39669620 Free PMC article.

6

Multi-ethnic heterozygote frequencies of cancer susceptibility genes to inform counseling of reproductive risk.

Powers J, Wachtel H, Trujillo E, Desai H, Hausler R, Conway L, Wubbenhorst B; Penn Medicine BioBank; Regeneron Genetics Center; Domchek SM, Nathanson KL, Maxwell KN. Powers J, et al. Genet Med. 2024 Oct 19:101246. doi: 10.1016/j.gim.2024.101246. Online ahead of print. Genet Med. 2024. PMID: 39570271

7

Agonist antibody to guanylate cyclase receptor NPR1 regulates vascular tone.

Dunn ME, Kithcart A, Kim JH, Ho AJ, Franklin MC, Romero Hernandez A, de Hoon J, Botermans W, Meyer J, Jin X, Zhang D, Torello J, Jasewicz D, Kamat V, Garnova E, Liu N, Rosconi M, Pan H, Karnik S, Burczynski ME, Zheng W, Rafique A, Nielsen JB, De T, Verweij N, Pandit A, Locke A, Chalasani N, Melander O, Schwantes-An TH; Penn Medicine Biobank; Baras A, Lotta LA, Musser BJ, Mastaitis J, Devalaraja-Narashimha KB, Rankin AJ, Huang T, Herman G, Olson W, Murphy AJ, Yancopoulos GD, Olenchock BA, Morton L. Dunn ME, et al. Nature. 2024 Sep;633(8030):654-661. doi: 10.1038/s41586-024-07903-1. Epub 2024 Sep 11. Nature. 2024. PMID: 39261724 Free PMC article. Clinical Trial.

8

Genetic Susceptibility to Mood Disorders and Risk of Stroke: A Polygenic Risk Score and Mendelian Randomization Study.

Sun J, Borné Y, Edsfeldt A, Wang Y, Pan M, Melander O, Engström G, Gonçalves I; Regeneron Genetics Center. Sun J, et al. Stroke. 2023 May;54(5):1340-1346. doi: 10.1161/STROKEAHA.122.041026. Epub 2023 Mar 21. Stroke. 2023. PMID: 36942587

9

Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female-Specific Health Conditions.

Xiao B, Velez Edwards DR, Lucas A, Drivas T, Gray K, Keating B, Weng C, Jarvik GP, Hakonarson H, Kottyan L, Elhadad N, Wei WQ, Luo Y, Kim D, Ritchie M, Verma SS; Regeneron Genetics Center *. Xiao B, et al. J Am Heart Assoc. 2023 Mar 7;12(5):e026561. doi: 10.1161/JAHA.121.026561. Epub 2023 Feb 27. J Am Heart Assoc. 2023. PMID: 36846987 Free PMC article.

10

Genetic variation of the blood coagulation regulator tissue factor pathway inhibitor and venous thromboembolism among middle-aged and older adults: A population-based cohort study.

Manderstedt E, Lind-Halldén C, Halldén C, Elf J, Svensson PJ, Engström G, Melander O, Baras A, Lotta LA, Zöller B; Regeneron Genetics Center. Manderstedt E, et al. Res Pract Thromb Haemost. 2022 Nov 9;6(7):e12842. doi: 10.1002/rth2.12842. eCollection 2022 Oct. Res Pract Thromb Haemost. 2022. PMID: 36381289 Free PMC article.

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