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Results by year

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

Year Number of Results
1973 2
1975 1
1976 1
1979 1
1982 1
1983 1
1985 1
1986 1
1987 4
1988 2
1989 1
1991 1
1992 2
1993 1
1994 3
1995 3
1997 4
1999 12
2000 8
2001 10
2002 3
2003 7
2004 7
2005 12
2006 9
2007 10
2008 7
2009 15
2010 16
2011 14
2012 10
2013 13
2014 23
2015 19
2016 26
2017 31
2018 35
2019 51
2020 57
2021 43
2022 51
2023 38
2024 11

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PubMed for id: 1794187

477 results

Results by year

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Page 1
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Husain RA, Jiao X, Hennings JC, Giesecke J, Palsule G, Beck-Wödl S, Osmanović D, Bjørgo K, Mir A, Ilyas M, Abbasi SM, Efthymiou S, Dominik N, Maroofian R, Houlden H, Rankin J, Pagnamenta AT, Nashabat M, Altwaijri W, Alfadhel M, Umair M, Khouj E, Reardon W, El-Hattab AW, Mekki M, Houge G, Beetz C, Bauer P, Putoux A, Lesca G, Sanlaville D, Alkuraya FS, Taylor RW, Mentzel HJ, Hübner CA, Huppke P, Hart RP, Haack TB, Kiledjian M, Rubio I. Husain RA, et al. Brain. 2024 Apr 4;147(4):1197-1205. doi: 10.1093/brain/awad434. Brain. 2024. PMID: 38141063
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
Maroofian R, Zamani M, Kaiyrzhanov R, Liebmann L, Karimiani EG, Vona B, Huebner AK, Calame DG, Misra VK, Sadeghian S, Azizimalamiri R, Mohammadi MH, Zeighami J, Heydaran S, Toosi MB, Akhondian J, Babaei M, Hashemi N, Schnur RE, Suri M, Setzke J, Wagner M, Brunet T, Grochowski CM, Emrick L, Chung WK, Hellmich UA, Schmidts M, Lupski JR, Galehdari H, Severino M, Houlden H, Hübner CA. Maroofian R, et al. Genet Med. 2024 Mar;26(3):101034. doi: 10.1016/j.gim.2023.101034. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054405 Free article.
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
Al-Kateb H, Au PYB, Berland S, Cogne B, Demurger F, Fluss J, Isidor B, Frank LM, Varvagiannis K, Koolen DA, McDonald M, Montgomery S, Moortgat S, Deprez M, Karadurmus D, Paulsen J, Reis A, Rieger M, Vasileiou G, Willing M, Shinawi M. Al-Kateb H, et al. Clin Genet. 2024 Mar;105(3):294-301. doi: 10.1111/cge.14464. Epub 2023 Dec 3. Clin Genet. 2024. PMID: 38044714
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Engal E, Oja KT, Maroofian R, Geminder O, Le TL, Marzin P, Guimier A, Mor E, Zvi N, Elefant N, Zaki MS, Gleeson JG, Muru K, Pajusalu S, Wojcik MH, Pachat D, Elmaksoud MA, Chan Jeong W, Lee H, Bauer P, Zifarelli G, Houlden H, Daana M, Elpeleg O, Amiel J, Lyonnet S, Gordon CT, Harel T, Õunap K, Salton M, Mor-Shaked H. Engal E, et al. Am J Hum Genet. 2023 Dec 7;110(12):2112-2119. doi: 10.1016/j.ajhg.2023.10.013. Epub 2023 Nov 13. Am J Hum Genet. 2023. PMID: 37963460
477 results