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

753 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.
Jain S, Trinidad M, Nguyen TB, Jones K, Neto SD, Ge F, Glagovsky A, Jones C, Moran G, Wang B, Rahimi K, Çalıcı SZ, Cedillo LR, Berardelli S, Özden B, Chen K, Katsonis P, Williams A, Lichtarge O, Rana S, Pradhan S, Srinivasan R, Sajeed R, Joshi D, Faraggi E, Jernigan R, Kloczkowski A, Xu J, Song Z, Özkan S, Padilla N, de la Cruz X, Acuna-Hidalgo R, Grafmüller A, Jiménez Barrón LT, Manfredi M, Savojardo C, Babbi G, Martelli PL, Casadio R, Sun Y, Zhu S, Shen Y, Pucci F, Rooman M, Cia G, Raimondi D, Hermans P, Kwee S, Chen E, Astore C, Kamandula A, Pejaver V, Ramola R, Velyunskiy M, Zeiberg D, Mishra R, Sterling T, Goldstein JL, Lugo-Martinez J, Kazi S, Li S, Long K, Brenner SE, Bakolitsa C, Radivojac P, Suhr D, Suhr T, Clark WT. Jain S, et al. Among authors: goldstein jl. bioRxiv [Preprint]. 2024 Jun 17:2024.05.16.594558. doi: 10.1101/2024.05.16.594558. bioRxiv. 2024. PMID: 38798479 Free PMC article. Preprint.
Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity framework.
Groopman E, Mohan S, Waddell A, Wilke M, Fernandez R, Weaver M, Chen H, Liu H, Bali D, Baudet H, Clarke L, Hung C, Mao R, Pinto E Vairo F, Racacho L, Yuzyuk T, Craigen WJ, Goldstein J. Groopman E, et al. medRxiv [Preprint]. 2024 Oct 20:2024.08.09.24311755. doi: 10.1101/2024.08.09.24311755. medRxiv. 2024. Update in: Mol Genet Metab. 2024 Nov;143(3):108593. doi: 10.1016/j.ymgme.2024.108593. PMID: 39211849 Free PMC article. Updated. Preprint.
Lack of association of first and second-line medication dosing and progression to refractory status epilepticus in children.
Barcia Aguilar C, Amengual-Gual M, Brenton JN, Chapman KE, Clark J, Gaillard WD, Goldstein JL, Goodkin HP, Kahoud R, Lai YC, Mikati MA, Morgan LA, Payne ET, Press CA, Reece L, Sands TT, Sannagowdara K, Sheehan T, Shellhaas RA, Tasker RC, Wainwright MS, Zhang B, Loddenkemper T; pSERG. Barcia Aguilar C, et al. Among authors: goldstein jl. Seizure. 2024 Oct 28;123:133-141. doi: 10.1016/j.seizure.2024.10.017. Online ahead of print. Seizure. 2024. PMID: 39550933
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.
Wright MW, Thaxton CL, Nelson T, DiStefano MT, Savatt JM, Brush MH, Cheung G, Mandell ME, Wulf B, Ward TJ, Goehringer S, O'Neill T, Weller P, Preston CG, Keseler IM, Goldstein JL, Strande NT, McGlaughon J, Azzariti DR, Cordova I, Dziadzio H, Babb L, Riehle K, Milosavljevic A, Martin CL, Rehm HL, Plon SE, Berg JS, Riggs ER, Klein TE. Wright MW, et al. Among authors: goldstein jl. Annu Rev Biomed Data Sci. 2024 Aug;7(1):31-50. doi: 10.1146/annurev-biodatasci-102423-112456. Epub 2024 Jul 24. Annu Rev Biomed Data Sci. 2024. PMID: 38663031 Review.
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
Goldstein JL, McGlaughon J, Kanavy D, Goomber S, Pan Y, Deml B, Donti T, Kearns L, Seifert BA, Schachter M, Son RG, Thaxton C, Udani R, Bali D, Baudet H, Caggana M, Hung C, Kyriakopoulou L, Rosenblum L, Steiner R, Pinto E Vairo F, Wang Y, Watson M, Fernandez R, Weaver M, Clarke L, Rehder C. Goldstein JL, et al. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107715. doi: 10.1016/j.ymgme.2023.107715. Epub 2023 Oct 26. Mol Genet Metab. 2023. PMID: 37907381 Free PMC article.
Pediatric status epilepticus management by Emergency Medical Services (the pSERG cohort).
Amengual-Gual M, Sánchez Fernández I, Vasquez A, Abend NS, Anderson A, Arya R, Barcia Aguilar C, Brenton JN, Carpenter JL, Chapman KE, Clark J, Farias-Moeller R, Gaillard WD, Glauser TA, Goldstein JL, Goodkin HP, Lai YC, Mikati MA, Morgan LA, Novotny EJ, Ostendorf AP, Payne ET, Peariso K, Piantino J, Reece L, Riviello JJ, Sannagowdara K, Sheehan T, Tasker RC, Tchapyjnikov D, Topjian AA, Wainwright MS, Wilfong A, Williams K, Loddenkemper T; Pediatric Status Epilepticus Research Group (pSERG). Amengual-Gual M, et al. Among authors: goldstein jl. Seizure. 2023 Oct;111:51-55. doi: 10.1016/j.seizure.2023.07.010. Epub 2023 Jul 16. Seizure. 2023. PMID: 37523933 Free article.
753 results