Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

29 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
An interactive web application for exploring human plasma and fibroblast metabolomics data from patients with inborn errors of metabolism.
Cai L, Vu HS, Gu W, Chen H, Franklin J, Haidar LA, Wu Z, Pan C, Cai F, Nguyen P, Ko B, Yang C, Zacharias LG, Sudderth J, Montgomery S, Uhles C, Fisher H, Hudnall J, Hornbuckle C, Quinn C, Michel D, Umaña L, Scheuerle A, McNutt MC, Gotway GK, Afroze B, Ni M, DeBerardinis R. Cai L, et al. Among authors: umana l. bioRxiv [Preprint]. 2023 Dec 12:2023.12.11.571124. doi: 10.1101/2023.12.11.571124. bioRxiv. 2023. PMID: 38168314 Free PMC article. Preprint.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. Hiatt SM, et al. Among authors: umana la. Am J Hum Genet. 2023 Feb 2;110(2):215-227. doi: 10.1016/j.ajhg.2022.12.007. Epub 2022 Dec 30. Am J Hum Genet. 2023. PMID: 36586412 Free PMC article.
Update on glycogen storage disease: primary hepatic involvement.
Wright TLF, Umaña LA, Ramirez CM. Wright TLF, et al. Among authors: umana la. Curr Opin Pediatr. 2022 Oct 1;34(5):496-502. doi: 10.1097/MOP.0000000000001158. Epub 2022 Aug 3. Curr Opin Pediatr. 2022. PMID: 35942643 Review.
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
Shimada S, Ng BG, White AL, Nickander KK, Turgeon C, Liedtke KL, Lam CT, Font-Montgomery E, Lourenco CM, He M, Peck DS, Umana LA, Uhles CL, Haynes D, Wheeler PG, Bamshad MJ, Nickerson DA, Cushing T, Gates R, Gomez-Ospina N, Byers HM; UW Center for Mendelian Genomics; Scalco FB, Martinez NN, Sachdev R, Smith L, Poduri A, Malone S, Harris RV, Scheffer IE, Rosenzweig SD, Adams DR, Gahl WA, Malicdan MCV, Raymond KM, Freeze HH, Wolfe LA. Shimada S, et al. Among authors: umana la. J Med Genet. 2022 Jul 5:jmedgenet-2021-108177. doi: 10.1136/jmedgenet-2021-108177. Online ahead of print. J Med Genet. 2022. PMID: 35790351 Free PMC article.
A comparison of laparoscopic and robotic ergonomic risk.
Monfared S, Athanasiadis DI, Umana L, Hernandez E, Asadi H, Colgate CL, Yu D, Stefanidis D. Monfared S, et al. Among authors: umana l. Surg Endosc. 2022 Nov;36(11):8397-8402. doi: 10.1007/s00464-022-09105-0. Epub 2022 Feb 19. Surg Endosc. 2022. PMID: 35182219
The Development of a WTC Environmental Health Center Pan-Cancer Database.
Shao Y, Durmus N, Zhang Y, Pehlivan S, Fernandez-Beros ME, Umana L, Corona R, Addessi A, Abbott SA, Smyth-Giambanco S, Arslan AA, Reibman J. Shao Y, et al. Among authors: umana l. Int J Environ Res Public Health. 2021 Feb 9;18(4):1646. doi: 10.3390/ijerph18041646. Int J Environ Res Public Health. 2021. PMID: 33572220 Free PMC article.
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lüttgen S, Denecke J, Strom TM, Monaghan KG; DDD Study; Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Günthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Õunap K, Ilves P, Innes AM, Kernohan KD; Care4Rare Canada Consortium; Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H; CAUSES Study; Martin MG, Martinez-Agosto JA; Undiagnosed Diseases Network; Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vøllo A, Pres… See abstract for full author list ➔ Bryant L, et al. Among authors: umana l. Sci Adv. 2020 Dec 2;6(49):eabc9207. doi: 10.1126/sciadv.abc9207. Print 2020 Dec. Sci Adv. 2020. PMID: 33268356 Free PMC article.
Characteristics of Cancer Patients in the World Trade Center Environmental Health Center.
Durmus N, Shao Y, Arslan AA, Zhang Y, Pehlivan S, Fernandez-Beros ME, Umana L, Corona R, Smyth-Giambanco S, Abbott SA, Reibman J. Durmus N, et al. Among authors: umana l. Int J Environ Res Public Health. 2020 Oct 1;17(19):7190. doi: 10.3390/ijerph17197190. Int J Environ Res Public Health. 2020. PMID: 33019547 Free PMC article.
29 results