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

Year Number of Results
1975 1
1981 1
1992 1
1998 3
1999 3
2000 1
2001 1
2002 1
2004 1
2005 2
2006 1
2008 4
2009 4
2010 1
2011 4
2012 2
2013 6
2014 5
2015 3
2016 4
2017 2
2018 3
2019 3
2020 6
2021 2
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55 results
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Page 1
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium, Majewski J, Boycott KM. Sawyer SL, et al. Among authors: graham ge. Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Clin Genet. 2016. PMID: 26283276 Free PMC article. Review.
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.
Lowther C, Speevak M, Armour CM, Goh ES, Graham GE, Li C, Zeesman S, Nowaczyk MJ, Schultz LA, Morra A, Nicolson R, Bikangaga P, Samdup D, Zaazou M, Boyd K, Jung JH, Siu V, Rajguru M, Goobie S, Tarnopolsky MA, Prasad C, Dick PT, Hussain AS, Walinga M, Reijenga RG, Gazzellone M, Lionel AC, Marshall CR, Scherer SW, Stavropoulos DJ, McCready E, Bassett AS. Lowther C, et al. Among authors: graham ge. Genet Med. 2017 Jan;19(1):53-61. doi: 10.1038/gim.2016.54. Epub 2016 May 19. Genet Med. 2017. PMID: 27195815 Free PMC article.
Tatton-Brown-Rahman syndrome: Six individuals with novel features.
Balci TB, Strong A, Kalish JM, Zackai E, Maris JM, Reilly A, Surrey LF, Wertheim GB, Marcadier JL, Graham GE, Carter MT. Balci TB, et al. Among authors: graham ge. Am J Med Genet A. 2020 Apr;182(4):673-680. doi: 10.1002/ajmg.a.61475. Epub 2020 Jan 21. Am J Med Genet A. 2020. PMID: 31961069
Regulation of dopamine-dependent transcription and cocaine action by Gadd45b.
Zipperly ME, Sultan FA, Graham GE, Brane AC, Simpkins NA, Carullo NVN, Ianov L, Day JJ. Zipperly ME, et al. Among authors: graham ge. Neuropsychopharmacology. 2021 Mar;46(4):709-720. doi: 10.1038/s41386-020-00828-z. Epub 2020 Sep 14. Neuropsychopharmacology. 2021. PMID: 32927466 Free PMC article.
Application of Hereditary Renal Cell Carcinoma Risk Criteria to a Large Prospective Database.
Kushnir I, Kirk L, Mallick R, Kim RH, Graham GE, Breau RH, Lattouf JB, Violette PD, Pautler SE, Care M, Kapoor A, Jewett MAS, Wood L, Tanguay S, Heng DYC, Basappa NS, So A, Pouliot F, Reaume NM. Kushnir I, et al. Among authors: graham ge. Clin Oncol (R Coll Radiol). 2020 Jan;32(1):e10-e15. doi: 10.1016/j.clon.2019.07.010. Epub 2019 Aug 1. Clin Oncol (R Coll Radiol). 2020. PMID: 31378448
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.
Au PYB, Goedhart C, Ferguson M, Breckpot J, Devriendt K, Wierenga K, Fanning E, Grange DK, Graham GE, Galarreta C, Jones MC, Kini U, Stewart H, Parboosingh JS, Kline AD, Innes AM; Care for Rare Canada Consortium. Au PYB, et al. Among authors: graham ge. Eur J Hum Genet. 2018 Sep;26(9):1272-1281. doi: 10.1038/s41431-018-0187-2. Epub 2018 Jun 14. Eur J Hum Genet. 2018. PMID: 29904177 Free PMC article. Review.
Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.
Unolt M, Kammoun M, Nowakowska B, Graham GE, Crowley TB, Hestand MS, Demaerel W, Geremek M, Emanuel BS, Zackai EH, Vermeesch JR, McDonald-McGinn D. Unolt M, et al. Among authors: graham ge. Genet Med. 2020 Feb;22(2):326-335. doi: 10.1038/s41436-019-0645-4. Epub 2019 Sep 2. Genet Med. 2020. PMID: 31474763 Free PMC article.
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