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

Year Number of Results
1946 1
1957 1
1962 1
1964 2
1965 1
1966 2
1967 2
1970 4
1971 4
1972 4
1973 6
1974 4
1975 6
1976 3
1977 10
1978 15
1979 12
1980 10
1981 8
1982 7
1983 6
1984 14
1985 10
1986 6
1987 1
1988 3
1989 4
1990 8
1991 10
1992 9
1993 5
1994 11
1995 20
1996 4
1997 7
1998 4
1999 10
2000 7
2001 12
2002 19
2003 9
2004 8
2005 10
2006 4
2007 6
2008 4
2009 3
2010 2
2011 3
2012 6
2013 3
2014 7
2015 12
2016 13
2017 15
2018 14
2019 22
2020 20
2021 23
2022 11
2023 24
2024 10

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466 results

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Page 1
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.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT. Paul MS, et al. Am J Hum Genet. 2024 Jan 4;111(1):96-118. doi: 10.1016/j.ajhg.2023.12.004. Am J Hum Genet. 2024. PMID: 38181735
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Genome Wide Association Study of Neuropathic Ocular Pain.
Huang JJ, Rodriguez DA, Slifer SH, Martin ER, Levitt RC, Galor A. Huang JJ, et al. Among authors: levitt rc. Ophthalmol Sci. 2023 Aug 13;4(2):100384. doi: 10.1016/j.xops.2023.100384. eCollection 2024 Mar-Apr. Ophthalmol Sci. 2023. PMID: 37868788 Free PMC article.
Self-expanding and balloon-expandable valves in low risk TAVR patients.
Bhogal S, Waksman R, Shea C, Zhang C, Gordon P, Ehsan A, Wilson SR, Levitt R, Parikh P, Bilfinger T, Hanna N, Buchbinder M, Asch FM, Weissman G, Ben-Dor I, Shults CC, Ali S, Garcia-Garcia HM, Satler LF, Rogers T. Bhogal S, et al. Among authors: levitt r. Int J Cardiol. 2024 Jan 15;395:131431. doi: 10.1016/j.ijcard.2023.131431. Epub 2023 Oct 12. Int J Cardiol. 2024. PMID: 37832606
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Ward SK, Wadley A, Tsai CA, Benke PJ, Emrick L, Fisher K, Houck KM, Dai H; Undiagnosed Diseases Network; Guillen Sacoto MJ, Craigen W, Glaser K, Murdock DR, Rohena L, Diderich KEM, Bruggenwirth HT, Lee B, Bacino C, Burrage LC, Rosenfeld JA. Ward SK, et al. Am J Med Genet A. 2024 Jan;194(1):17-30. doi: 10.1002/ajmg.a.63399. Epub 2023 Sep 25. Am J Med Genet A. 2024. PMID: 37743782
466 results