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Page 1
Expanding Genetic Counselor Roles: A Model for Global Research Development.
Muraresku CC, McCormick EM, Rockart L, Blaine Crowley T, Asher S, Back A, Baldino SM, Bedoukian E, Britt AD, Burrill N, Cacioppo C, Clark DF, Clark ME, Conway L, Dratch L, Dubbs HA, Engelhardt NM, Ginn N, Gray C, Hartman T, Hathaway ER, Helbig KL, Hoffman-Andrews L, Kasperski S, Keena BA, Keller KN, Long JM, Lulis L, Lusk L, McGinn DE, Mueller R, Paul RA, Pilchman L, Powers J, Raible SE, Reichert S, Rippert AL, Arnold AG, Ruggiero SM, Schindewolf E, Sullivan KR, Terek S, Wang B, Wells M, Wisniewski N, Wright R, Wood EM, Woyciechowski S, Zelley K, Valverde KD, McDonald-McGinn DM. Muraresku CC, et al. Among authors: ruggiero sm. Genes (Basel). 2024 Jul 1;15(7):867. doi: 10.3390/genes15070867. Genes (Basel). 2024. PMID: 39062646 Free PMC article.
The clinical and genetic spectrum of paediatric speech and language disorders.
Magielski JH, Ruggiero SM, Xian J, Parthasarathy S, Galer PD, Ganesan S, Back A, McKee JL, McSalley I, Gonzalez AK, Morgan A, Donaher J, Helbig I. Magielski JH, et al. Among authors: ruggiero sm. Brain. 2024 Oct 16:awae264. doi: 10.1093/brain/awae264. Online ahead of print. Brain. 2024. PMID: 39412438
Delineating clinical and developmental outcomes in STXBP1-related disorders.
Xian J, Thalwitzer KM, McKee J, Sullivan KR, Brimble E, Fitch E, Toib J, Kaufman MC, deCampo D, Cunningham K, Pierce SR, Goss J, Rigby CS, Syrbe S, Boland M, Prosser B, Fitter N, Ruggiero SM, Helbig I. Xian J, et al. Among authors: ruggiero sm. medRxiv [Preprint]. 2023 May 11:2023.05.10.23289776. doi: 10.1101/2023.05.10.23289776. medRxiv. 2023. Update in: Brain. 2023 Dec 1;146(12):5182-5197. doi: 10.1093/brain/awad287. PMID: 37215006 Free PMC article. Updated. Preprint.
The clinical and genetic spectrum of paediatric speech and language disorders in 52,143 individuals.
Magielski J, Ruggiero SM, Xian J, Parthasarathy S, Galer P, Ganesan S, Back A, McKee J, McSalley I, Gonzalez AK, Morgan A, Donaher J, Helbig I. Magielski J, et al. Among authors: ruggiero sm. medRxiv [Preprint]. 2024 Apr 23:2024.04.23.24306192. doi: 10.1101/2024.04.23.24306192. medRxiv. 2024. Update in: Brain. 2024 Oct 16:awae264. doi: 10.1093/brain/awae264. PMID: 38712155 Free PMC article. Updated. Preprint.
Delineating clinical and developmental outcomes in STXBP1-related disorders.
Xian J, Thalwitzer KM, McKee J, Sullivan KR, Brimble E, Fitch E, Toib J, Kaufman MC, deCampo D, Cunningham K, Pierce SR, Goss J, Rigby CS, Syrbe S, Boland M, Prosser B, Fitter N, Ruggiero SM, Helbig I. Xian J, et al. Among authors: ruggiero sm. Brain. 2023 Dec 1;146(12):5182-5197. doi: 10.1093/brain/awad287. Brain. 2023. PMID: 38015929 Free PMC article.
Early life seizures and epileptic spasms in STXBP1-related disorders.
Thalwitzer KM, Xian J, de Campo D, Parthasarathy S, Magielski J, Sullivan KR, Goss J, Rigby CS, Boland M, Prosser B, Ruggiero SM, Syrbe S, Helbig I. Thalwitzer KM, et al. Among authors: ruggiero sm. Epilepsia. 2024 Mar;65(3):805-816. doi: 10.1111/epi.17886. Epub 2024 Jan 27. Epilepsia. 2024. PMID: 38279907
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, García-Cazorla Á, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P, Helbig I. Xian J, et al. Among authors: ruggiero sm. Brain. 2022 Jun 3;145(5):1668-1683. doi: 10.1093/brain/awab327. Brain. 2022. PMID: 35190816 Free PMC article.
Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individuals.
Galer PD, Parthasarathy S, Xian J, McKee JL, Ruggiero SM, Ganesan S, Kaufman MC, Cohen SR, Haag S, Chen C, Ojemann WKS, Kim D, Wilmarth O, Vaidiswaran P, Sederman C, Ellis CA, Gonzalez AK, Boßelmann CM, Lal D, Sederman R, Lewis-Smith D, Litt B, Helbig I. Galer PD, et al. Among authors: ruggiero sm. Genet Med. 2024 Nov;26(11):101211. doi: 10.1016/j.gim.2024.101211. Epub 2024 Jul 14. Genet Med. 2024. PMID: 39011766
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Among authors: ruggiero sm. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
23 results