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

Year Number of Results
1970 1
1973 2
1975 2
1977 1
1987 1
1988 2
1989 2
1990 3
1991 3
1992 2
1994 1
1995 3
1996 5
1997 3
1998 3
2000 4
2001 2
2002 1
2004 2
2005 5
2006 2
2007 2
2008 3
2009 3
2010 4
2011 3
2012 4
2013 1
2014 6
2015 2
2016 7
2017 10
2018 2
2019 3
2020 4
2021 3
2023 2
2024 0

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101 results

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Page 1
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study; FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, An… See abstract for full author list ➔ Hamdan FF, et al. Among authors: hurst ja. Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008. Am J Hum Genet. 2017. PMID: 29100083 Free PMC article.
Johanson-Blizzard syndrome.
Hurst JA, Baraitser M. Hurst JA, et al. J Med Genet. 1989 Jan;26(1):45-8. doi: 10.1136/jmg.26.1.45. J Med Genet. 1989. PMID: 2645405 Free PMC article. Review. No abstract available.
Skeletal dysplasias.
Hurst JA, Firth HV, Smithson S. Hurst JA, et al. Semin Fetal Neonatal Med. 2005 Jun;10(3):233-41. doi: 10.1016/j.siny.2004.12.001. Semin Fetal Neonatal Med. 2005. PMID: 15878700 Review.
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Bernkopf M, Abdullah UB, Bush SJ, Wood KA, Ghaffari S, Giannoulatou E, Koelling N, Maher GJ, Thibaut LM, Williams J, Blair EM, Kelly FB, Bloss A, Burkitt-Wright E, Canham N, Deng AT, Dixit A, Eason J, Elmslie F, Gardham A, Hay E, Holder M, Homfray T, Hurst JA, Johnson D, Jones WD, Kini U, Kivuva E, Kumar A, Lees MM, Leitch HG, Morton JEV, Németh AH, Ramachandrappa S, Saunders K, Shears DJ, Side L, Splitt M, Stewart A, Stewart H, Suri M, Clouston P, Davies RW, Wilkie AOM, Goriely A. Bernkopf M, et al. Among authors: hurst ja. Nat Commun. 2023 Feb 15;14(1):853. doi: 10.1038/s41467-023-36606-w. Nat Commun. 2023. PMID: 36792598 Free PMC article.
Genotype-phenotype correlation at codon 1740 of SETD2.
Rabin R, Radmanesh A, Glass IA, Dobyns WB, Aldinger KA, Shieh JT, Romoser S, Bombei H, Dowsett L, Trapane P, Bernat JA, Baker J, Mendelsohn NJ, Popp B, Siekmeyer M, Sorge I, Sansbury FH, Watts P, Foulds NC, Burton J, Hoganson G, Hurst JA, Menzies L, Osio D, Kerecuk L, Cobben JM, Jizi K, Jacquemont S, Bélanger SA, Löhner K, Veenstra-Knol HE, Lemmink HH, Keller-Ramey J, Wentzensen IM, Punj S, McWalter K, Lenberg J, Ellsworth KA, Radtke K, Akbarian S, Pappas J. Rabin R, et al. Among authors: hurst ja. Am J Med Genet A. 2020 Sep;182(9):2037-2048. doi: 10.1002/ajmg.a.61724. Epub 2020 Jul 24. Am J Med Genet A. 2020. PMID: 32710489
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
Wilkie AO, Bochukova EG, Hansen RM, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L, Venâncio M, Hurst JA, O'rourke AW, Williams LJ, Seller A, Lester T. Wilkie AO, et al. Among authors: hurst ja. Am J Med Genet A. 2007 Aug 15;143A(16):1941-9. doi: 10.1002/ajmg.a.31905. Am J Med Genet A. 2007. PMID: 17621648 Review.
The Holt-Oram syndrome.
Hurst JA, Hall CM, Baraitser M. Hurst JA, et al. J Med Genet. 1991 Jun;28(6):406-10. doi: 10.1136/jmg.28.6.406. J Med Genet. 1991. PMID: 1870097 Free PMC article. No abstract available.
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
Wilkie AO, Bochukova EG, Hansen RM, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L, Venâncio M, Hurst JA, O'Rourke AW, Williams LJ, Seller A, Lester T. Wilkie AO, et al. Among authors: hurst ja. Am J Med Genet A. 2006 Dec 1;140(23):2631-9. doi: 10.1002/ajmg.a.31366. Am J Med Genet A. 2006. PMID: 16838304 Review.
Genetics of blindness.
Hurst JA. Hurst JA. Br J Hosp Med. 1992 Apr 1-14;47(7):495-500. Br J Hosp Med. 1992. PMID: 1581754 Review.
101 results