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Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.
Ensenauer RE, Adeyinka A, Flynn HC, Michels VV, Lindor NM, Dawson DB, Thorland EC, Lorentz CP, Goldstein JL, McDonald MT, Smith WE, Simon-Fayard E, Alexander AA, Kulharya AS, Ketterling RP, Clark RD, Jalal SM. Ensenauer RE, et al. Among authors: goldstein jl. Am J Hum Genet. 2003 Nov;73(5):1027-40. doi: 10.1086/378818. Epub 2003 Oct 2. Am J Hum Genet. 2003. PMID: 14526392 Free PMC article.
Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.
DeScipio C, Conlin L, Rosenfeld J, Tepperberg J, Pasion R, Patel A, McDonald MT, Aradhya S, Ho D, Goldstein J, McGuire M, Mulchandani S, Medne L, Rupps R, Serrano AH, Thorland EC, Tsai AC, Hilhorst-Hofstee Y, Ruivenkamp CA, Van Esch H, Addor MC, Martinet D, Mason TB, Clark D, Spinner NB, Krantz ID. DeScipio C, et al. Am J Med Genet A. 2012 Sep;158A(9):2152-61. doi: 10.1002/ajmg.a.35574. Epub 2012 Jul 27. Am J Med Genet A. 2012. PMID: 22847950 Free PMC article.
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
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
Survey of Pediatric ICU EEG Monitoring-Reassessment After a Decade.
Fung FW, Carpenter JL, Chapman KE, Gallentine W, Giza CC, Goldstein JL, Hahn CD, Loddenkemper T, Matsumoto JH, Press CA, Riviello JJ Jr, Abend NS. Fung FW, et al. Among authors: goldstein jl. J Clin Neurophysiol. 2023 Mar 16:10.1097/WNP.0000000000001006. doi: 10.1097/WNP.0000000000001006. Online ahead of print. J Clin Neurophysiol. 2023. PMID: 36930237
Unexpected role for IGF-1 in starvation: Maintenance of blood glucose.
Fang F, Goldstein JL, Shi X, Liang G, Brown MS. Fang F, et al. Among authors: goldstein jl. Proc Natl Acad Sci U S A. 2022 Aug 9;119(32):e2208855119. doi: 10.1073/pnas.2208855119. Epub 2022 Aug 1. Proc Natl Acad Sci U S A. 2022. PMID: 35914126 Free PMC article.
748 results