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Year Number of Results
1946 1
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1958 1
1959 2
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1968 1
1970 1
1971 1
1972 3
1975 1
1976 1
1977 1
1979 2
1980 2
1981 1
1982 2
1983 1
1987 1
1989 1
1991 3
1993 2
1995 3
1998 3
1999 2
2000 2
2001 5
2002 5
2003 4
2004 5
2005 4
2006 5
2007 10
2008 6
2009 8
2010 9
2011 5
2012 7
2013 4
2014 7
2015 11
2016 12
2017 9
2018 9
2019 17
2020 16
2021 30
2022 26
2023 24
2024 35
2025 12

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300 results

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Page 1
FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Mao K, Borel C, Ansar M, Jolly A, Makrythanasis P, Froehlich C, Iwaszkiewicz J, Wang B, Xu X, Li Q, Blanc X, Zhu H, Chen Q, Jin F, Ankamreddy H, Singh S, Zhang H, Wang X, Chen P, Ranza E, Paracha SA, Shah SF, Guida V, Piceci-Sparascio F, Melis D, Dallapiccola B, Digilio MC, Novelli A, Magliozzi M, Fadda MT, Streff H, Machol K, Lewis RA, Zoete V, Squeo GM, Prontera P, Mancano G, Gori G, Mariani M, Selicorni A, Psoni S, Fryssira H, Douzgou S, Marlin S, Biskup S, De Luca A, Merla G, Zhao S, Cox TC, Groves AK, Lupski JR, Zhang Q, Zhang YB, Antonarakis SE. Mao K, et al. Among authors: jolly a. Nat Commun. 2023 Apr 11;14(1):2026. doi: 10.1038/s41467-023-37703-6. Nat Commun. 2023. PMID: 37041148 Free PMC article.
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L; Undiagnosed Diseases Network; Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabě de Angelis M, Hölter SM, Cheung HH, Gu S, Lupski JR. Calame DG, et al. Among authors: jolly a. Am J Hum Genet. 2023 Aug 3;110(8):1394-1413. doi: 10.1016/j.ajhg.2023.06.013. Epub 2023 Jul 18. Am J Hum Genet. 2023. PMID: 37467750 Free PMC article.
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Mitani T, Isikay S, Gezdirici A, Gulec EY, Punetha J, Fatih JM, Herman I, Akay G, Du H, Calame DG, Ayaz A, Tos T, Yesil G, Aydin H, Geckinli B, Elcioglu N, Candan S, Sezer O, Erdem HB, Gul D, Demiral E, Elmas M, Yesilbas O, Kilic B, Gungor S, Ceylan AC, Bozdogan S, Ozalp O, Cicek S, Aslan H, Yalcintepe S, Topcu V, Bayram Y, Grochowski CM, Jolly A, Dawood M, Duan R, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics; Marafi D, Akdemir ZC, Karaca E, Carvalho CMB, Gibbs RA, Posey JE, Lupski JR, Pehlivan D. Mitani T, et al. Among authors: jolly a. Am J Hum Genet. 2021 Oct 7;108(10):1981-2005. doi: 10.1016/j.ajhg.2021.08.009. Epub 2021 Sep 28. Am J Hum Genet. 2021. PMID: 34582790 Free PMC article.
When to re-dose regadenoson?
Thomas GS, Jolly AF, Safani M. Thomas GS, et al. Among authors: jolly af. J Nucl Cardiol. 2017 Feb;24(1):66-68. doi: 10.1007/s12350-015-0376-0. Epub 2015 Dec 29. J Nucl Cardiol. 2017. PMID: 26715602 No abstract available.
Work-Related Asthma.
Jolly AT, Klees JE, Pacheco KA, Guidotti TL, Kipen HM, Biggs JJ, Hyman MH, Bohnker BK, Thiese MS, Hegmann KT, Harber P. Jolly AT, et al. J Occup Environ Med. 2015 Oct;57(10):e121-9. doi: 10.1097/JOM.0000000000000572. J Occup Environ Med. 2015. PMID: 26461873
Multi-omics comparison of malignant and normal uveal melanocytes reveals molecular features of uveal melanoma.
Gentien D, Saberi-Ansari E, Servant N, Jolly A, de la Grange P, Némati F, Liot G, Saule S, Teissandier A, Bourc'his D, Girard E, Wong J, Masliah-Planchon J, Narmanli E, Liu Y, Torun E, Goulancourt R, Rodrigues M, Gaudé LV, Reyes C, Bazire M, Chenegros T, Henry E, Rapinat A, Bohec M, Baulande S, M'kacher R, Jeandidier E, Nicolas A, Ciriello G, Margueron R, Decaudin D, Cassoux N, Piperno-Neumann S, Stern MH, Gibcus JH, Dekker J, Heard E, Roman-Roman S, Waterfall JJ. Gentien D, et al. Among authors: jolly a. Cell Rep. 2023 Sep 26;42(9):113132. doi: 10.1016/j.celrep.2023.113132. Epub 2023 Sep 13. Cell Rep. 2023. PMID: 37708024 Free PMC article.
Stillborn, still loved.
Jolly A. Jolly A. Lancet. 2016 Oct 29;388(10056):2105-2106. doi: 10.1016/S0140-6736(16)31924-9. Lancet. 2016. PMID: 27968739 No abstract available.
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz Ö, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, Bekheirnia MR, Bekheirnia N, Scala M, Morleo M, Nigro V, Torella A; TUDP consortium; Pinelli M, Capra V, Accogli A, Maitz S, Spano A, Olson RJ, Klee EW, Lanpher BC, Jang SS, Chae JH, Steinbauer P, Rieder D, Janecke AR, Vodopiutz J, Vogel I, Blechingberg J, Cohen JL, Riley K, Klee V, Walsh LE, Begemann M, Elbracht M, Eggermann T, Stoppe A, Stuurman K, van Slegtenhorst M, Barakat TS, Mulhern MS, Sands TT, Cytrynbaum C, Weksberg R, Isidori F, Pippucci T, Severi G, Montanari F, Kruer MC, Bakhtiari S, Darvish H, Reutter H, Hagelueken G, Geyer M, Woolf AS, Posey JE, Lupski JR, Odermatt B, Hilger AC. Stegmann JD, et al. Among authors: jolly a. NPJ Genom Med. 2024 Mar 1;9(1):18. doi: 10.1038/s41525-024-00398-9. NPJ Genom Med. 2024. PMID: 38429302 Free PMC article.
GDF5 as a rejuvenating treatment for age-related neuromuscular failure.
Traoré M, Noviello C, Vergnol A, Gentil C, Halliez M, Saillard L, Gelin M, Forand A, Lemaitre M, Guesmia Z, Cadot B, Caldas de Almeida Araujo E, Marty B, Mougenot N, Messéant J, Strochlic L, Sadoine J, Slimani L, Jolly A, De la Grange P, Hogrel JY, Pietri-Rouxel F, Falcone S. Traoré M, et al. Among authors: jolly a. Brain. 2024 Nov 4;147(11):3834-3848. doi: 10.1093/brain/awae107. Brain. 2024. PMID: 38584513
300 results