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

Year Number of Results
1850 1
1937 1
1963 1
1964 1
1967 1
1969 1
1970 2
1971 1
1972 2
1974 1
1975 5
1976 5
1977 4
1978 3
1979 3
1981 2
1982 4
1983 5
1984 6
1985 6
1986 2
1987 6
1989 1
1990 3
1991 2
1992 2
1993 3
1994 3
1996 3
1997 3
1998 5
1999 4
2001 5
2002 4
2003 7
2004 4
2005 2
2006 4
2007 6
2008 5
2009 6
2010 15
2011 12
2012 15
2013 20
2014 14
2015 13
2016 8
2017 5
2018 10
2019 14
2020 28
2021 21
2022 28
2023 16
2024 11

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330 results

Results by year

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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: thomas rh. 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.
Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.
Zagaglia S, Selch C, Nisevic JR, Mei D, Michalak Z, Hernandez-Hernandez L, Krithika S, Vezyroglou K, Varadkar SM, Pepler A, Biskup S, Leão M, Gärtner J, Merkenschlager A, Jaksch M, Møller RS, Gardella E, Kristiansen BS, Hansen LK, Vari MS, Helbig KL, Desai S, Smith-Hicks CL, Hino-Fukuyo N, Talvik T, Laugesaar R, Ilves P, Õunap K, Körber I, Hartlieb T, Kudernatsch M, Winkler P, Schimmel M, Hasse A, Knuf M, Heinemeyer J, Makowski C, Ghedia S, Subramanian GM, Striano P, Thomas RH, Micallef C, Thom M, Werring DJ, Kluger GJ, Cross JH, Guerrini R, Balestrini S, Sisodiya SM. Zagaglia S, et al. Among authors: thomas rh. Neurology. 2018 Nov 27;91(22):e2078-e2088. doi: 10.1212/WNL.0000000000006567. Epub 2018 Nov 9. Neurology. 2018. PMID: 30413629 Free PMC article.
The mitochondrial epilepsies.
Lim A, Thomas RH. Lim A, et al. Among authors: thomas rh. Eur J Paediatr Neurol. 2020 Jan;24:47-52. doi: 10.1016/j.ejpn.2019.12.021. Epub 2020 Jan 7. Eur J Paediatr Neurol. 2020. PMID: 31973983 Review.
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.
Montanucci L, Lewis-Smith D, Collins RL, Niestroj LM, Parthasarathy S, Xian J, Ganesan S, Macnee M, Brünger T, Thomas RH, Talkowski M; Epi25 Collaborative; Helbig I, Leu C, Lal D. Montanucci L, et al. Among authors: thomas rh. Nat Commun. 2023 Jul 20;14(1):4392. doi: 10.1038/s41467-023-39539-6. Nat Commun. 2023. PMID: 37474567 Free PMC article.
Cannabis and epilepsy.
Thomas RH, Cunningham MO. Thomas RH, et al. Pract Neurol. 2018 Dec;18(6):465-471. doi: 10.1136/practneurol-2018-002058. Epub 2018 Oct 18. Pract Neurol. 2018. PMID: 30337476 Review.
Valproate: life-saving, life-changing.
Thomas RH. Thomas RH. Clin Med (Lond). 2018 Apr 1;18(Suppl 2):s1-s8. doi: 10.7861/clinmedicine.18-2-s1. Clin Med (Lond). 2018. PMID: 29700085 Free PMC article. Review.
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A; Deciphering Developmental Disorder Study; Klee EW, Lefebvre V, Clark KJ, Depienne C. Zawerton A, et al. Among authors: thomas rh. Genet Med. 2020 Mar;22(3):524-537. doi: 10.1038/s41436-019-0657-0. Epub 2019 Oct 3. Genet Med. 2020. PMID: 31578471 Free PMC article.
The neurodevelopmental spectrum seen with CHD2 variants.
Willison AG, Thomas RH. Willison AG, et al. Among authors: thomas rh. Pediatr Investig. 2022 Apr 26;6(2):147-148. doi: 10.1002/ped4.12323. eCollection 2022 Jun. Pediatr Investig. 2022. PMID: 35774518 Free PMC article. No abstract available.
Genetic chameleons: remember the relapsing disorders.
Thomas RH, Thomas NJP. Thomas RH, et al. Pract Neurol. 2019 Aug;19(4):282-283. doi: 10.1136/practneurol-2018-002181. Epub 2019 Apr 4. Pract Neurol. 2019. PMID: 30948557 No abstract available.
Rasmussen's aneurysm.
Nzekwu E, Hnatiuk BD, Thomas RH. Nzekwu E, et al. Among authors: thomas rh. Br J Hosp Med (Lond). 2014 Jul;75(7):410-1. doi: 10.12968/hmed.2014.75.7.410. Br J Hosp Med (Lond). 2014. PMID: 25040524 No abstract available.
330 results