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Year Number of Results
1967 2
1968 1
1969 1
1970 1
1979 1
1980 2
1983 1
1984 1
1985 2
1987 1
1993 1
1995 2
1996 1
1997 2
1998 3
1999 1
2000 3
2002 5
2003 5
2004 3
2005 2
2006 6
2007 5
2008 6
2009 5
2010 4
2011 3
2012 5
2013 3
2014 4
2015 6
2016 5
2017 7
2018 7
2019 3
2020 5
2021 2
2022 1
2023 4
2024 4
2025 0

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110 results

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Page 1
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM Jr, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. Kaur M, et al. Among authors: cox gf. Am J Med Genet A. 2023 Aug;191(8):2113-2131. doi: 10.1002/ajmg.a.63247. Epub 2023 Jun 28. Am J Med Genet A. 2023. PMID: 37377026 Free PMC article.
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA, Barry BJ, Chan WM, MacKinnon S, Whitman MC, Matos Ruiz PM, Pratt BM, England EM, Pais L, Lemire G, Groopman E, Glaze C, Russell KA, Singer-Berk M, Di Gioia SA, Lee AS, Andrews C, Shaaban S, Wirth MM, Bekele S, Toffoloni M, Bradford VR, Foster EE, Berube L, Rivera-Quiles C, Mensching FM, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Wilson MW, Weisburd B, Lek M; Ocular CCDD Phenotyping Consortium; Brand H, Talkowski ME, MacArthur DG, O'Donnell-Luria A, Robson CD, Hunter DG, Engle EC. Jurgens JA, et al. Genet Med. 2024 Jul 17:101216. doi: 10.1016/j.gim.2024.101216. Online ahead of print. Genet Med. 2024. PMID: 39033378 Free article.
Dystrophies and heart disease.
Cox GF, Kunkel LM. Cox GF, et al. Curr Opin Cardiol. 1997 May;12(3):329-43. Curr Opin Cardiol. 1997. PMID: 9243091 Review.
CRB1: one gene, many phenotypes.
Ehrenberg M, Pierce EA, Cox GF, Fulton AB. Ehrenberg M, et al. Among authors: cox gf. Semin Ophthalmol. 2013 Sep-Nov;28(5-6):397-405. doi: 10.3109/08820538.2013.825277. Semin Ophthalmol. 2013. PMID: 24138049 Review.
Redefining the MED13L syndrome.
Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Staropoli JF, Fischer U, Suckow V, Bartsch O, Chess A, Ropers HH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM. Adegbola A, et al. Among authors: cox gf. Eur J Hum Genet. 2015 Oct;23(10):1308-17. doi: 10.1038/ejhg.2015.26. Epub 2015 Mar 11. Eur J Hum Genet. 2015. PMID: 25758992 Free PMC article.
Supporting US public health experts.
Cohen R, Francois C, Crowley J, Hastings P, King R, Love TW, Maraganore J, McMurry-Heath M, Levin J; Cosignatories. Cohen R, et al. Nat Biotechnol. 2020 Dec;38(12):1381-1384. doi: 10.1038/s41587-020-00767-6. Nat Biotechnol. 2020. PMID: 33239766 No abstract available.
Chinese scientists and US leadership in the life sciences.
Holtzman SH, Cohen R, Levin JM, Maraganore J; Signatories to the Statement. Holtzman SH, et al. Nat Biotechnol. 2019 Nov;37(11):1261-1263. doi: 10.1038/s41587-019-0285-x. Nat Biotechnol. 2019. PMID: 31582856 No abstract available.
Clinical approach to genetic cardiomyopathy in children.
Schwartz ML, Cox GF, Lin AE, Korson MS, Perez-Atayde A, Lacro RV, Lipshultz SE. Schwartz ML, et al. Among authors: cox gf. Circulation. 1996 Oct 15;94(8):2021-38. doi: 10.1161/01.cir.94.8.2021. Circulation. 1996. PMID: 8873681 Review.
110 results