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Year Number of Results
1995 1
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2002 1
2003 1
2004 3
2005 1
2006 3
2007 3
2008 5
2009 8
2010 7
2011 11
2012 9
2013 4
2014 12
2015 2
2016 6
2017 4
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2019 5
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2022 6
2023 8
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121 results

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Page 1
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez … See abstract for full author list ➔ Li D, et al. Among authors: funalot b. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
Genetic diagnosis of Mendelian disorders via RNA sequencing.
Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, Haack TB, Graf E, Schwarzmayr T, Terrile C, Koňaříková E, Repp B, Kastenmüller G, Adamski J, Lichtner P, Leonhardt C, Funalot B, Donati A, Tiranti V, Lombes A, Jardel C, Gläser D, Taylor RW, Ghezzi D, Mayr JA, Rötig A, Freisinger P, Distelmaier F, Strom TM, Meitinger T, Gagneur J, Prokisch H. Kremer LS, et al. Among authors: funalot b. Nat Commun. 2017 Jun 12;8:15824. doi: 10.1038/ncomms15824. Nat Commun. 2017. PMID: 28604674 Free PMC article.
Endoneurial fibroblast-like cells.
Richard L, Topilko P, Magy L, Decouvelaere AV, Charnay P, Funalot B, Vallat JM. Richard L, et al. Among authors: funalot b. J Neuropathol Exp Neurol. 2012 Nov;71(11):938-47. doi: 10.1097/NEN.0b013e318270a941. J Neuropathol Exp Neurol. 2012. PMID: 23095846 Review.
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.
Schuermans N, El Chehadeh S, Hemelsoet D, Gautheron J, Vantyghem MC, Nouioua S, Tazir M, Vigouroux C, Auclair M, Bogaert E, Dufour S, Okawa F, Hilbert P, Van Doninck N, Taquet MC, Rosseel T, De Clercq G, Debackere E, Van Haverbeke C, Cherif FR, Urtizberea JA, Chanson JB, Funalot B, Authier FJ, Kaya S, Terryn W, Callens S, Depypere B, Van Dorpe J; Program for Undiagnosed Diseases (UD-PrOZA); Poppe B, Impens F, Mizushima N, Depienne C, Jéru I, Dermaut B. Schuermans N, et al. Among authors: funalot b. Nat Genet. 2023 Nov;55(11):1929-1940. doi: 10.1038/s41588-023-01535-3. Epub 2023 Nov 2. Nat Genet. 2023. PMID: 37919452
[Hereditary peripheral neuropathies].
Vallat JM, Tazir M, Calvo J, Funalot B. Vallat JM, et al. Among authors: funalot b. Presse Med. 2009 Sep;38(9):1325-34. doi: 10.1016/j.lpm.2009.01.014. Epub 2009 Mar 26. Presse Med. 2009. PMID: 19327944 Review. French.
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.
Pacot L, Blok M, Vidaud D, Fertitta L, Laurendeau I, Coustier A, Maillard T, Barbance C, Hadjadj D, Ye M, Lallemand D, Ferkal S, Funalot B, Lunati-Rozie A, Hebrard B, Bhouri R, Spruijt L, Bessis D, Geneviève D, Vernimmen V, Broen MPG, Sigaudy S, Odent S, Damaj L, Quélin C, Pasquier L, Layet V, Gilbert-Dussardier B, Nicolas G, Guerrot AM, Leheup B, Bursztejn AC, Petit F, Boute-Bénéjean O, Capri Y, Guimier A, Lyonnet S, Baujat G, Bourrat E, Isidor B, Nizon M, Barbarot S, Toutain A, Blesson S, Van-Gils J, Morice-Picard F, Audebert-Bellanger S, Mazereeuw-Hautier J, Ziegler A, Alembik Y, Piard J, Brischoux-Boucher E, Guerrini-Rousseau L, Morera J, Paquis-Flucklinger V, Delobel B, Alessandri JL, Parfait B; NF-France network; Wolkenstein P, Pasmant E. Pacot L, et al. Among authors: funalot b. J Med Genet. 2025 Aug 28:jmg-2025-110783. doi: 10.1136/jmg-2025-110783. Online ahead of print. J Med Genet. 2025. PMID: 40759488 Free article.
The various Charcot-Marie-Tooth diseases.
Vallat JM, Mathis S, Funalot B. Vallat JM, et al. Among authors: funalot b. Curr Opin Neurol. 2013 Oct;26(5):473-80. doi: 10.1097/WCO.0b013e328364c04b. Curr Opin Neurol. 2013. PMID: 23945280 Review.
Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics.
Pacot L, Vidaud D, Ye M, Chansavang A, Coustier A, Maillard T, Barbance C, Laurendeau I, Hébrard B, Lunati-Rozie A, Funalot B, Wolkenstein P, Vidaud M, Goldenberg A, Morice-Picard F, Hadjadj D, Parfait B, Pasmant E. Pacot L, et al. Among authors: funalot b. NPJ Genom Med. 2024 Sep 8;9(1):41. doi: 10.1038/s41525-024-00425-9. NPJ Genom Med. 2024. PMID: 39245665 Free PMC article.
The French hypertrophic cardiomyopathy gene register: A systematic large gene screening for hypertrophic cardiomyopathy.
Hagège A, Puscas T, El Hachmi M, Parodi A, Bacher A, Funalot B, Wahbi K, Jeunemaître X, Damy T, Billon C; GEREMY Working Group of the French Society of Cardiology. Hagège A, et al. Among authors: funalot b. Int J Cardiol. 2024 Dec 15;417:132542. doi: 10.1016/j.ijcard.2024.132542. Epub 2024 Sep 10. Int J Cardiol. 2024. PMID: 39260623 Free article.
121 results