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Year Number of Results
1998 1
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2000 2
2001 1
2003 1
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2005 6
2006 5
2007 5
2008 4
2009 3
2010 6
2011 6
2012 5
2013 4
2014 7
2015 4
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2019 10
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2022 9
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124 results

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Page 1
Updates in Neonatal Seizures.
Gettings JV, Soul JS. Gettings JV, et al. Clin Perinatol. 2025 Jun;52(2):375-393. doi: 10.1016/j.clp.2025.02.008. Epub 2025 Apr 1. Clin Perinatol. 2025. PMID: 40350217 Review.
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O'Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA; Polymicrogyria Genetics Research Network. Akula SK, et al. JAMA Neurol. 2023 Sep 1;80(9):980-988. doi: 10.1001/jamaneurol.2023.2363. JAMA Neurol. 2023. PMID: 37486637 Free PMC article.
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study; Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Vetrini F, et al. Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Genome Med. 2019. PMID: 30819258 Free PMC article.
Fetal Brain Volume Predicts Neurodevelopment in Congenital Heart Disease.
Sadhwani A, Wypij D, Rofeberg V, Gholipour A, Mittleman M, Rohde J, Velasco-Annis C, Calderon J, Friedman KG, Tworetzky W, Grant PE, Soul JS, Warfield SK, Newburger JW, Ortinau CM, Rollins CK. Sadhwani A, et al. Circulation. 2022 Apr 12;145(15):1108-1119. doi: 10.1161/CIRCULATIONAHA.121.056305. Epub 2022 Feb 10. Circulation. 2022. PMID: 35143287 Free PMC article.
Data harmonization framework for neonatal hypoxic-ischemic encephalopathy studies.
Hsiao CH, Foster AN, McDonald SA, Vyas R, Ashraf A, Bao R, Tran L, Kesri A, Darzidehkalani E, Soldatelli MD, Auman JO, Soul JS, Chalak LF, Cotten CM, Shankaran S, Laptook AR, Grant PE, Ou Y; Consortium Of MRI Biomarkers In Neonatal Encephalopathy (COMBINE). Hsiao CH, et al. JAMIA Open. 2025 Sep 4;8(5):ooaf086. doi: 10.1093/jamiaopen/ooaf086. eCollection 2025 Oct. JAMIA Open. 2025. PMID: 40918940 Free PMC article.
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA, Barry BJ, Chan WM, MacKinnon S, Whitman MC, Matos Ruiz PM, Pratt BM, England EM, Pais L, Lemire G, Groopman E, Glaze C, Russell KA, Singer-Berk M, Di Gioia SA, Lee AS, Andrews C, Shaaban S, Wirth MM, Bekele S, Toffoloni M, Bradford VR, Foster EE, Berube L, Rivera-Quiles C, Mensching FM, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Wilson MW, Weisburd B, Lek M; Ocular CCDD Phenotyping Consortium; Brand H, Talkowski ME, MacArthur DG, O'Donnell-Luria A, Robson CD, Hunter DG, Engle EC. Jurgens JA, et al. Genet Med. 2025 Apr;27(4):101216. doi: 10.1016/j.gim.2024.101216. Epub 2024 Jul 18. Genet Med. 2025. PMID: 39033378 Free PMC article.
124 results