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1989 1
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54 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.
Personalized medicine and human genetic diversity.
Lu YF, Goldstein DB, Angrist M, Cavalleri G. Lu YF, et al. Among authors: angrist m. Cold Spring Harb Perspect Med. 2014 Jul 24;4(9):a008581. doi: 10.1101/cshperspect.a008581. Cold Spring Harb Perspect Med. 2014. PMID: 25059740 Free PMC article. Review.
Open Humans: A platform for participant-centered research and personal data exploration.
Greshake Tzovaras B, Angrist M, Arvai K, Dulaney M, Estrada-Galiñanes V, Gunderson B, Head T, Lewis D, Nov O, Shaer O, Tzovara A, Bobe J, Price Ball M. Greshake Tzovaras B, et al. Among authors: angrist m. Gigascience. 2019 Jun 1;8(6):giz076. doi: 10.1093/gigascience/giz076. Gigascience. 2019. PMID: 31241153 Free PMC article. Review.
Personal genomics: Where are we now?
Angrist M. Angrist M. Appl Transl Genom. 2016 Feb 1;8:1-3. doi: 10.1016/j.atg.2016.01.010. eCollection 2016 Mar. Appl Transl Genom. 2016. PMID: 27047752 Free PMC article. No abstract available.
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.
Less is more: compact genomes pay dividends.
Angrist M. Angrist M. Genome Res. 1998 Jul;8(7):683-5. doi: 10.1101/gr.8.7.683. Genome Res. 1998. PMID: 9685314 Free article. Review. No abstract available.
54 results