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Results by year

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

Year Number of Results
1966 2
1967 2
1969 1
1973 1
1974 4
1975 2
1977 1
1981 1
1982 1
1984 3
1985 3
1986 2
1987 4
1988 1
1989 4
1990 8
1991 5
1992 6
1993 3
1996 1
1997 1
1998 4
1999 1
2000 3
2001 5
2002 4
2003 5
2004 3
2005 2
2006 2
2007 7
2008 11
2009 7
2010 6
2011 10
2012 9
2013 18
2014 19
2015 22
2016 25
2017 30
2018 20
2019 22
2020 17
2021 15
2022 16
2023 14
2024 8

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Search Results

317 results

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Page 1
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Frésard L, et al. Among authors: hartley t. Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3. Nat Med. 2019. PMID: 31160820 Free PMC article.
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: hartley t. 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.
Mandibulofacial Dysostosis with Microcephaly.
Lines M, Hartley T, MacDonald SK, Boycott KM. Lines M, et al. Among authors: hartley t. 2014 Jul 3 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2014 Jul 3 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 24999515 Free Books & Documents. Review.
Function in the human connectome: task-fMRI and individual differences in behavior.
Barch DM, Burgess GC, Harms MP, Petersen SE, Schlaggar BL, Corbetta M, Glasser MF, Curtiss S, Dixit S, Feldt C, Nolan D, Bryant E, Hartley T, Footer O, Bjork JM, Poldrack R, Smith S, Johansen-Berg H, Snyder AZ, Van Essen DC; WU-Minn HCP Consortium. Barch DM, et al. Among authors: hartley t. Neuroimage. 2013 Oct 15;80:169-89. doi: 10.1016/j.neuroimage.2013.05.033. Epub 2013 May 16. Neuroimage. 2013. PMID: 23684877 Free PMC article.
Sex, Depression, and More in Cardiac Rehabilitation.
Suskin NG, Huitema AA, Hartley T, McKelvie RS. Suskin NG, et al. Among authors: hartley t. Can J Cardiol. 2021 Mar;37(3):357-358. doi: 10.1016/j.cjca.2020.12.001. Epub 2020 Dec 5. Can J Cardiol. 2021. PMID: 33290825 No abstract available.
The Neurobiology of Mammalian Navigation.
Poulter S, Hartley T, Lever C. Poulter S, et al. Among authors: hartley t. Curr Biol. 2018 Sep 10;28(17):R1023-R1042. doi: 10.1016/j.cub.2018.05.050. Curr Biol. 2018. PMID: 30205053 Free article. Review.
Measurement of stroke-related balance dysfunction in Africa.
Inglis-Jassiem G, Titus A, Burger M, Hartley T, Steyn H, Berner K. Inglis-Jassiem G, et al. Among authors: hartley t. In: Louw Q, editor. Collaborative capacity development to complement stroke rehabilitation in Africa [Internet]. Cape Town (ZA): AOSIS; 2020. Chapter 7. In: Louw Q, editor. Collaborative capacity development to complement stroke rehabilitation in Africa [Internet]. Cape Town (ZA): AOSIS; 2020. Chapter 7. PMID: 34606196 Free Books & Documents. Review.
New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.
Hartley T, Lemire G, Kernohan KD, Howley HE, Adams DR, Boycott KM. Hartley T, et al. Annu Rev Genomics Hum Genet. 2020 Aug 31;21:351-372. doi: 10.1146/annurev-genom-083118-015345. Epub 2020 Apr 13. Annu Rev Genomics Hum Genet. 2020. PMID: 32283948 Review.
PhenomeCentral: 7 years of rare disease matchmaking.
Osmond M, Hartley T, Johnstone B, Andjic S, Girdea M, Gillespie M, Buske O, Dumitriu S, Koltunova V, Ramani A, Boycott KM, Brudno M. Osmond M, et al. Among authors: hartley t. Hum Mutat. 2022 Jun;43(6):674-681. doi: 10.1002/humu.24348. Epub 2022 Feb 22. Hum Mutat. 2022. PMID: 35165961
317 results