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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… See abstract for full author list ➔ Helbig KL, et al. Among authors: leonhard j. 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.
Xolography for 3D Printing in Microgravity.
König NF, Reuter M, Reuß M, Kromer CSF, Herder M, Garmshausen Y, Asfari B, Israel E, Vasconcelos Lima L, Puvati N, Leonhard J, Madalo L, Heuschkel S, Engelhard M, Arzhangnia Y, Radzinski D. König NF, et al. Among authors: leonhard j. Adv Mater. 2024 Dec 13:e2413391. doi: 10.1002/adma.202413391. Online ahead of print. Adv Mater. 2024. PMID: 39670699
Cesium activates the neurotransmitter receptor for glycine.
Fricke S, Harnau M, Hetsch F, Liu H, Leonhard J, Eylmann A, Knauff P, Sun H, Semtner M, Meier JC. Fricke S, et al. Among authors: leonhard j. Front Mol Neurosci. 2023 May 22;16:1018530. doi: 10.3389/fnmol.2023.1018530. eCollection 2023. Front Mol Neurosci. 2023. PMID: 37284465 Free PMC article.
Workforce Considerations When Building a Precision Medicine Program.
Blout Zawatsky CL, Leonhard JR, Bell M, Moore MM, Petry NJ, Platt DM, Green RC, Hajek C, Christensen KD. Blout Zawatsky CL, et al. Among authors: leonhard jr. J Pers Med. 2022 Nov 19;12(11):1929. doi: 10.3390/jpm12111929. J Pers Med. 2022. PMID: 36422106 Free PMC article.
Familial communication and cascade testing following elective genomic testing.
Adelson SM, Blout Zawatsky CL, Hickingbotham MR, Bell ME, Platt DM, Leonhard JR, Zoltick ES, Hajek CA, Green RC, Christensen KD. Adelson SM, et al. Among authors: leonhard jr. J Genet Couns. 2024 May 16:10.1002/jgc4.1907. doi: 10.1002/jgc4.1907. Online ahead of print. J Genet Couns. 2024. PMID: 38757439
Precision Population Medicine in Primary Care: The Sanford Chip Experience.
Christensen KD, Bell M, Zawatsky CLB, Galbraith LN, Green RC, Hutchinson AM, Jamal L, LeBlanc JL, Leonhard JR, Moore M, Mullineaux L, Petry N, Platt DM, Shaaban S, Schultz A, Tucker BD, Van Heukelom J, Wheeler E, Zoltick ES, Hajek C; Imagenetics Metrics Team. Christensen KD, et al. Among authors: leonhard jr. Front Genet. 2021 Mar 12;12:626845. doi: 10.3389/fgene.2021.626845. eCollection 2021. Front Genet. 2021. PMID: 33777099 Free PMC article.
24 results