Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

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

Year Number of Results
1991 1
2003 1
2004 1
2006 2
2008 3
2009 4
2010 2
2011 1
2012 5
2013 5
2014 8
2015 14
2016 7
2017 10
2018 7
2019 6
2020 3
2021 9
2022 6
2023 4
2024 11
2025 10
2026 2

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

115 results

Results by year

Filters applied: . Clear all
Page 1
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Wright CF, Xiao C, Zocche D, Rube… See abstract for full author list ➔ Chen Y, et al. Among authors: fica sm. Nature. 2024 Aug;632(8026):832-840. doi: 10.1038/s41586-024-07773-7. Epub 2024 Jul 11. Nature. 2024. PMID: 38991538 Free PMC article.
Phenotypic Variation and Pubertal Outcomes in Males and Females With 46,XY Partial Gonadal Dysgenesis.
Tadokoro-Cuccaro R, Hughes IA, Cools M, van de Vijver K, Bilharinho de Mendonça B, Domenice S, Loch Batista R, Thomazini Dallago R, Costa EF, Lisboa Gomes N, Maciel-Guerra AT, Guerra-Junior G, Gabriel Ribeiro de Andrade J, Lucas-Herald A, Bryce J, Hannema S, Juul A, Globa E, McElreavey K, Baronio F, Rey R, Lopez Dacal J, Darendeliler F, Poyrazoglu S, Kolesińska Z, Niedziela M, Claahsen-van der Grinten HL, van den Akker ELT, Herrmann G, Atapattu N, Jain V, Sharma R, Bettendorf M, Konrad D, Lenherr-Taube N, Holterhus PM, Fica S, Skae M, Russo G, Stancampiano MR, Gazdagh G, Davies JH, Mohamed Z, Seneviratne SN, Güran T, Güven A, Wasniewska M, Mladenov V, Verkauskas G, Markosyan R, Korbonits M, Hiort O, Frielitz-Wagner IV, Ahmed SF, Thankamony A. Tadokoro-Cuccaro R, et al. Among authors: fica s. J Clin Endocrinol Metab. 2025 Nov 18;110(12):e4086-e4100. doi: 10.1210/clinem/dgaf223. J Clin Endocrinol Metab. 2025. PMID: 40208111 Free PMC article.
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
Chen Y, Dawes R, Kim HC, Stenton SL, Walker S, Ljungdahl A, Lord J, Ganesh VS, Ma J, Martin-Geary AC, Lemire G, D'Souza EN, Dong S, Ellingford JM, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Brown NJ, Burrage LC, Chapman K, Compton AG, Cunningham CA, D'Souza P, Délot EC, Dias KR, Elias ER, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Grant CL, Haack T, Kuechler A, Lalani SR, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lockhart PJ, Ma AS, Macnamara EF, Maurer TM, Mendez HR, Montgomery SB, Nassogne MC, Neumann S, O'Leary M, Palmer EE, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Simons C, Sisodiya SM, Snell P, Clair L, Stark Z, Tan TY, Tan NB, Temple SE, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JM, Sanders SJ, O'Donnell-Luria A, Whiffin N. Chen Y, et al. Among authors: fica sm. medRxiv [Preprint]. 2024 Apr 9:2024.04.07.24305438. doi: 10.1101/2024.04.07.24305438. medRxiv. 2024. Update in: Nature. 2024 Aug;632(8026):832-840. doi: 10.1038/s41586-024-07773-7. PMID: 38645094 Free PMC article. Updated. Preprint.
Preconceptional Counseling in Women with Hyperthyroidism.
Cima LN, Tarna M, Martin CS, Sirbu AE, Soare I, Panaitescu AM, Gica N, Barbu CG, Fica S. Cima LN, et al. Among authors: fica s. Medicina (Kaunas). 2024 Jan 29;60(2):234. doi: 10.3390/medicina60020234. Medicina (Kaunas). 2024. PMID: 38399522 Free PMC article. Review.
Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis.
Loughrey PB, Mothojakan NB, Iacovazzo D, Arni A, Aflorei ED, Arnaldi G, Barlier A, Beckers A, Bizzi MF, Chanson P, Dal J, Daly AF, Dang MN, David A, Andrade MO, Else T, Elston MS, Evans A, Ferrau F, Fica S, Flanagan D, Gadelha MR, Grossman AB, Kapur S, Khoo B, Kumar AV, Kumar-Sinha C, Lechan RM, Ludman M, Metherell LA, Miljic D, Mourougavelou V, Musat M, Occhi G, Owens M, Pascanu I, Pinheiro SVB, Radian S, Ribeiro-Oliveira A, Schöfl C, Patel KA, Hernández-Ramírez LC, Korbonits M. Loughrey PB, et al. Among authors: fica s. Eur J Endocrinol. 2025 Mar 27;192(4):385-397. doi: 10.1093/ejendo/lvaf044. Eur J Endocrinol. 2025. PMID: 40070360 Free PMC article.
RNA catalyses nuclear pre-mRNA splicing.
Fica SM, Tuttle N, Novak T, Li NS, Lu J, Koodathingal P, Dai Q, Staley JP, Piccirilli JA. Fica SM, et al. Nature. 2013 Nov 14;503(7475):229-34. doi: 10.1038/nature12734. Epub 2013 Nov 6. Nature. 2013. PMID: 24196718 Free PMC article.
115 results