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Year Number of Results
1988 1
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31 results

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Page 1
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics; Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study; Hedrich UBS, Scheffer IE, Helbig I, Zampo… See abstract for full author list ➔ Helbig KL, et al. Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Am J Hum Genet. 2018. PMID: 30343943 Free PMC article.
First trimester screening.
Ellestad SC, Wells SR, Kuller JA. Ellestad SC, et al. Gynecol Obstet Invest. 2005;60(1):58-62. doi: 10.1159/000083485. Epub 2005 Feb 1. Gynecol Obstet Invest. 2005. PMID: 15687731 Review.
The Role of Perinatal Palliative Care in Fetal Neurology.
Rent S, Lemmon ME, Ellestad S, Bidegain M. Rent S, et al. Among authors: ellestad s. Am J Perinatol. 2023 Sep;40(12):1265-1271. doi: 10.1055/a-1682-2798. Epub 2021 Oct 28. Am J Perinatol. 2023. PMID: 34710944 Free PMC article. Review.
Pilot study of machine learning for detection of placenta accreta spectrum.
Zhang Y, Ellestad SC, Gilner JB, Pyne A, Boyd BK, Mazurowski MA, Gatta LA. Zhang Y, et al. Among authors: ellestad sc. Ultrasound Obstet Gynecol. 2024 Sep;64(3):426-427. doi: 10.1002/uog.29100. Epub 2024 Aug 7. Ultrasound Obstet Gynecol. 2024. PMID: 39108192 No abstract available.
An Automated Region-Selection Method for Adaptive ALARA Ultrasound Imaging.
Flint KM, Barre EC, Huber MT, McNally PJ, Ellestad SC, Trahey GE. Flint KM, et al. Among authors: ellestad sc. IEEE Trans Ultrason Ferroelectr Freq Control. 2022 Jul;69(7):2257-2269. doi: 10.1109/TUFFC.2022.3172690. Epub 2022 Jun 30. IEEE Trans Ultrason Ferroelectr Freq Control. 2022. PMID: 35507609 Free PMC article.
A Genocentric Approach to Discovery of Mendelian Disorders.
Hansen AW, Murugan M, Li H, Khayat MM, Wang L, Rosenfeld J, Andrews BK, Jhangiani SN, Coban Akdemir ZH, Sedlazeck FJ, Ashley-Koch AE, Liu P, Muzny DM; Task Force for Neonatal Genomics; Davis EE, Katsanis N, Sabo A, Posey JE, Yang Y, Wangler MF, Eng CM, Sutton VR, Lupski JR, Boerwinkle E, Gibbs RA. Hansen AW, et al. Am J Hum Genet. 2019 Nov 7;105(5):974-986. doi: 10.1016/j.ajhg.2019.09.027. Epub 2019 Oct 24. Am J Hum Genet. 2019. PMID: 31668702 Free PMC article.
Validation of a sonographic checklist for the detection of histologic placenta accreta spectrum.
Gatta LA, Ellestad SC, Boyd BK, Collins S, Einerson BD, Stephenson ML, Hammad I, Varvoutis MS, Honart AW, Federspiel JJ, Craig AM, Swartz A, Salinaro JR, Unnithan S, Weber J, Erkanli A, Gilner JB. Gatta LA, et al. Among authors: ellestad sc. Am J Obstet Gynecol MFM. 2023 Aug;5(8):101017. doi: 10.1016/j.ajogmf.2023.101017. Epub 2023 May 11. Am J Obstet Gynecol MFM. 2023. PMID: 37178720
31 results