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

Year Number of Results
1957 1
1978 1
1982 1
1983 1
1986 2
1987 1
1988 2
1993 1
1994 2
1995 3
1996 3
1997 8
1998 6
1999 5
2000 3
2001 2
2002 1
2003 3
2004 4
2005 3
2007 1
2008 6
2009 7
2010 10
2011 6
2012 15
2013 12
2014 21
2015 19
2016 17
2017 15
2018 19
2019 33
2020 30
2021 29
2022 23
2023 35
2024 19

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328 results

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Page 1
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: d souza p. medRxiv [Preprint]. 2024 Apr 9:2024.04.07.24305438. doi: 10.1101/2024.04.07.24305438. medRxiv. 2024. PMID: 38645094 Free PMC article. Preprint.
GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study.
D'Souza P, Farmer C, Johnston JM, Han ST, Adams D, Hartman AL, Zein W, Huryn LA, Solomon B, King K, Jordan CP, Myles J, Nicoli ER, Rothermel CE, Mojica Algarin Y, Huang R, Quimby R, Zainab M, Bowden S, Crowell A, Buckley A, Brewer C, Regier DS, Brooks BP, Acosta MT, Baker EH, Vézina G, Thurm A, Tifft CJ. D'Souza P, et al. Genet Med. 2024 Apr 16:101144. doi: 10.1016/j.gim.2024.101144. Online ahead of print. Genet Med. 2024. PMID: 38641994
The impact of mental health and psychosocial support programmes on children and young people's mental health in the context of humanitarian emergencies in low- and middle-income countries: A systematic review and meta-analysis.
Bangpan M, Felix L, Soliman F, D'Souza P, Jieman AT, Dickson K. Bangpan M, et al. Among authors: d souza p. Glob Ment Health (Camb). 2024 Feb 12;11:e21. doi: 10.1017/gmh.2024.17. eCollection 2024. Glob Ment Health (Camb). 2024. PMID: 38572260 Free PMC article.
HIV Diagnostics and Vaccines: It Takes Two to Tango.
Colón W, Oriol Mathieu V, Hural J, Hattingh L, Adungo F, Lagatie O, Lavreys L, Allen M, Anzala O, Espy N, Fransen K, Garcia PJ, Maciel M Jr, Murtagh M, Peel SA, Peeling RW, Tan LLJ, Warren M, Pau MG, D'Souza PM. Colón W, et al. Among authors: d souza pm. J Infect Dis. 2024 Mar 7:jiae113. doi: 10.1093/infdis/jiae113. Online ahead of print. J Infect Dis. 2024. PMID: 38451247
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.
Nagy A, Molay F, Hargadon S, Brito Pires C, Grant N, De La Rosa Abreu L, Chen JY, D'Souza P, Macnamara E, Tifft C, Becker C, Melo De Gusmao C, Khurana V, Neumeyer AM, Eichler FS. Nagy A, et al. Among authors: d souza p. Orphanet J Rare Dis. 2024 Feb 20;19(1):79. doi: 10.1186/s13023-024-03083-3. Orphanet J Rare Dis. 2024. PMID: 38378692 Free PMC article.
328 results