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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

72 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Coherent synchrotron radiation for broadband terahertz spectroscopy.
Barros J, Evain C, Manceron L, Brubach JB, Tordeux MA, Brunelle P, Nadolski L, Loulergue A, Couprie ME, Bielawski S, Szwaj C, Roy P. Barros J, et al. Among authors: brunelle p. Rev Sci Instrum. 2013 Mar;84(3):033102. doi: 10.1063/1.4793558. Rev Sci Instrum. 2013. PMID: 23556802
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Husson T, Lecoquierre F, Nicolas G, Richard AC, Afenjar A, Audebert-Bellanger S, Badens C, Bilan F, Bizaoui V, Boland A, Bonnet-Dupeyron MN, Brischoux-Boucher E, Bonnet C, Bournez M, Boute O, Brunelle P, Caumes R, Charles P, Chassaing N, Chatron N, Cogné B, Colin E, Cormier-Daire V, Dard R, Dauriat B, Delanne J, Deleuze JF, Demurger F, Denommé-Pichon AS, Depienne C, Dieux A, Dubourg C, Edery P, El Chehadeh S, Faivre L, Fergelot P, Fradin M, Garde A, Geneviève D, Gilbert-Dussardier B, Goizet C, Goldenberg A, Gouy E, Guerrot AM, Guimier A, Harzalla I, Héron D, Isidor B, Lacombe D, Le Guillou Horn X, Keren B, Kuechler A, Lacaze E, Lavillaureix A, Lehalle D, Lesca G, Lespinasse J, Levy J, Lyonnet S, Morel G, Jean-Marçais N, Marlin S, Marsili L, Mignot C, Nambot S, Nizon M, Olaso R, Pasquier L, Perrin L, Petit F, Pingault V, Piton A, Prieur F, Putoux A, Planes M, Odent S, Quélin C, Quemener-Redon S, Rama M, Rio M, Rossi M, Schaefer E, Rondeau S, Saugier-Veber P, Smol T, Sigaudy S, Touraine R, Mau-Them FT, Trimouille A, Van Gils J, Vanlerberghe C, Vantalon V, Vera G, Vincent M, Ziegler A, Guillin O, Campion D, Charbonnier C. Husson T, et al. Among authors: brunelle p. Eur J Hum Genet. 2024 Feb;32(2):190-199. doi: 10.1038/s41431-023-01474-x. Epub 2023 Oct 23. Eur J Hum Genet. 2024. PMID: 37872275 Free PMC article.
TRIT1 deficiency: Two novel patients with four novel variants.
Smol T, Brunelle P, Caumes R, Boute-Benejean O, Thuillier C, Figeac M, Ait-Yahya E, Bonte F, Mau-Them FT, Thauvin-Robinet C, Faivre L, Roche-Lestienne C, Manouvrier-Hanu S, Petit F, Ghoumid J. Smol T, et al. Among authors: brunelle p. Eur J Med Genet. 2022 Nov;65(11):104603. doi: 10.1016/j.ejmg.2022.104603. Epub 2022 Aug 29. Eur J Med Genet. 2022. PMID: 36049610
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Jia X, Zhang S, Tan S, Du B, He M, Qin H, Chen J, Duan X, Luo J, Chen F, Ouyang L, Wang J, Chen G, Yu B, Zhang G, Zhang Z, Lyu Y, Huang Y, Jiao J, Chen JYH, Swoboda KJ, Agolini E, Novelli A, Leoni C, Zampino G, Cappuccio G, Brunetti-Pierri N, Gerard B, Ginglinger E, Richer J, McMillan H, White-Brown A, Hoekzema K, Bernier RA, Kurtz-Nelson EC, Earl RK, Meddens C, Alders M, Fuchs M, Caumes R, Brunelle P, Smol T, Kuehl R, Day-Salvatore DL, Monaghan KG, Morrow MM, Eichler EE, Hu Z, Yuan L, Tan J, Xia K, Shen Y, Guo H. Jia X, et al. Among authors: brunelle p. Sci Adv. 2022 Aug 19;8(33):eabo7112. doi: 10.1126/sciadv.abo7112. Epub 2022 Aug 17. Sci Adv. 2022. PMID: 35977029 Free PMC article.
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Coëslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E. Drivas TG, et al. Among authors: brunelle p. Eur J Hum Genet. 2020 Oct;28(10):1422-1431. doi: 10.1038/s41431-020-0654-4. Epub 2020 Jun 1. Eur J Hum Genet. 2020. PMID: 32483341 Free PMC article.
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.
Boussion S, Escande F, Jourdain AS, Smol T, Brunelle P, Duhamel C, Alembik Y, Attié-Bitach T, Baujat G, Bazin A, Bonnière M, Carassou P, Carles D, Devisme L, Goizet C, Goldenberg A, Grotto S, Guichet A, Jouk PS, Loeuillet L, Mechler C, Michot C, Pelluard F, Putoux A, Whalen S, Ghoumid J, Manouvrier-Hanu S, Petit F. Boussion S, et al. Among authors: brunelle p. Hum Mutat. 2020 Jul;41(7):1220-1225. doi: 10.1002/humu.24021. Epub 2020 Apr 6. Hum Mutat. 2020. PMID: 32227665
Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations.
Jourdain AS, Petit F, Odou MF, Balduyck M, Brunelle P, Dufour W, Boussion S, Brischoux-Boucher E, Colson C, Dieux A, Gérard M, Ghoumid J, Giuliano F, Goldenberg A, Khau Van Kien P, Lehalle D, Morin G, Moutton S, Smol T, Vanlerberghe C, Manouvrier-Hanu S, Escande F. Jourdain AS, et al. Among authors: brunelle p. Hum Mutat. 2020 Jan;41(1):222-239. doi: 10.1002/humu.23912. Epub 2019 Sep 23. Hum Mutat. 2020. PMID: 31502745
72 results