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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1899 1
1900 3
1913 1
1922 1
1971 1
1972 3
1973 1
1996 1
1998 1
2001 2
2002 1
2003 1
2006 1
2008 1
2012 1
2013 1
2014 2
2016 3
2017 3
2018 3
2019 7
2020 2
2021 2
2022 3
2023 1
2024 1

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42 results

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Page 1
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J; Undiagnosed Diseases Network; Genomics England Research Consortium; Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN. Cousin MA, et al. Among authors: mackenzie jj. Nat Genet. 2021 Jul;53(7):1006-1021. doi: 10.1038/s41588-021-00886-z. Epub 2021 Jul 1. Nat Genet. 2021. PMID: 34211179 Free PMC article.
A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1.
Tao P, Sun J, Wu Z, Wang S, Wang J, Li W, Pan H, Bai R, Zhang J, Wang Y, Lee PY, Ying W, Zhou Q, Hou J, Wang W, Sun B, Yang M, Liu D, Fang R, Han H, Yang Z, Huang X, Li H, Deuitch N, Zhang Y, Dissanayake D, Haude K, McWalter K, Roadhouse C, MacKenzie JJ, Laxer RM, Aksentijevich I, Yu X, Wang X, Yuan J, Zhou Q. Tao P, et al. Among authors: mackenzie jj. Nature. 2020 Jan;577(7788):109-114. doi: 10.1038/s41586-019-1830-y. Epub 2019 Dec 11. Nature. 2020. PMID: 31827280
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Fai… See abstract for full author list ➔ Radio FC, et al. Among authors: mackenzie jj. Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16. Am J Hum Genet. 2021. PMID: 33596411 Free PMC article.
Atypical late presentation of galactosemia.
Simpson SM, MacKenzie JJ, Strube YNJ. Simpson SM, et al. Among authors: mackenzie jj. Can J Ophthalmol. 2019 Aug;54(4):e194-e196. doi: 10.1016/j.jcjo.2018.10.004. Epub 2018 Nov 24. Can J Ophthalmol. 2019. PMID: 31358168 No abstract available.
Promoting Resilience After Stroke in Dyads (ReStoreD): A Supplemental Analysis.
Terrill AL, Reblin M, MacKenzie JJ, Baucom BRW, Einerson J, Cardell B, Richards L, Majersik JJ. Terrill AL, et al. Among authors: mackenzie jj. Arch Phys Med Rehabil. 2023 Oct;104(10):1580-1587. doi: 10.1016/j.apmr.2023.03.024. Epub 2023 Apr 17. Arch Phys Med Rehabil. 2023. PMID: 37075965
Parents' Understanding of Genetics and Heritability.
Harding B, Egan R, Kannu P, MacKenzie JJ. Harding B, et al. Among authors: mackenzie jj. J Genet Couns. 2017 Jun;26(3):541-547. doi: 10.1007/s10897-016-0021-3. Epub 2016 Oct 17. J Genet Couns. 2017. PMID: 27747461
Primary care providers' lived experiences of genetics in practice.
Harding B, Webber C, Ruhland L, Dalgarno N, Armour CM, Birtwhistle R, Brown G, Carroll JC, Flavin M, Phillips S, MacKenzie JJ. Harding B, et al. Among authors: mackenzie jj. J Community Genet. 2019 Jan;10(1):85-93. doi: 10.1007/s12687-018-0364-6. Epub 2018 Apr 26. J Community Genet. 2019. PMID: 29700759 Free PMC article.
42 results