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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

104 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
Lecoquierre F, Punt AM, Ebstein F, Wallaard I, Verhagen R, Studencka-Turski M, Duffourd Y, Moutton S, Tran Mau-Them F, Philippe C, Dean J, Tennant S, Brooks AS, van Slegtenhorst MA, Jurgens JA, Barry BJ, Chan WM, England EM, Martinez Ojeda M, Engle EC, Robson CD, Morrow M, Innes AM, Lamont R, Sanderson M, Krüger E, Thauvin C, Distel B, Faivre L, Elgersma Y, Vitobello A. Lecoquierre F, et al. Among authors: moutton s. Genet Med. 2024 Jun;26(6):101119. doi: 10.1016/j.gim.2024.101119. Epub 2024 Mar 7. Genet Med. 2024. PMID: 38465576 Free PMC article.
In utero seizures revealing dentato-olivary dysplasia caused by SCN2A mutation.
Sauvestre F, Moutton S, Badens C, Broussin B, Carles D, Houcinat N, Lacoste C, Marguet F, Pecheux C, Villard L, Pelluard F, Laquerrière A, André G. Sauvestre F, et al. Among authors: moutton s. Neuropathol Appl Neurobiol. 2017 Dec;43(7):631-635. doi: 10.1111/nan.12409. Epub 2017 Jun 9. Neuropathol Appl Neurobiol. 2017. PMID: 28489313 No abstract available.
Clinical and Molecular Spectrum of Nonsyndromic Early-Onset Osteoarthritis.
Ruault V, Yauy K, Fabre A, Fradin M, Van-Gils J, Angelini C, Baujat G, Blanchet P, Cuinat S, Isidor B, Jorgensen C, Lacombe D, Moutton S, Odent S, Sanchez E, Sigaudy S, Touitou I, Willems M, Apparailly F, Geneviève D, Barat-Houari M. Ruault V, et al. Among authors: moutton s. Arthritis Rheumatol. 2020 Oct;72(10):1689-1693. doi: 10.1002/art.41387. Epub 2020 Aug 25. Arthritis Rheumatol. 2020. PMID: 32510848 Free article.
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, Devinsky O, Duffourd Y, Duplomb-Jego L, Gérard B, Jacquette A, Kuentz P, Masurel-Paulet A, McDougall C, Moutton S, Olivié H, Park SM, Rauch A, Revencu N, Rivière JB, Rubin K, Simonic I, Shears DJ, Smol T, Taylor Tavares AL, Terhal P, Thevenon J, Van Gassen K, Vincent-Delorme C, Willemsen MH, Wilson GN, Zackai E, Zweier C, Callier P, Thauvin-Robinet C, Faivre L. Lehalle D, et al. Among authors: moutton s. J Med Genet. 2017 Jul;54(7):479-488. doi: 10.1136/jmedgenet-2016-104468. Epub 2017 Jan 24. J Med Genet. 2017. PMID: 28119487
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.
Bourchany A, Thauvin-Robinet C, Lehalle D, Bruel AL, Masurel-Paulet A, Jean N, Nambot S, Willems M, Lambert L, El Chehadeh-Djebbar S, Schaefer E, Jaquette A, St-Onge J, Poe C, Jouan T, Chevarin M, Callier P, Mosca-Boidron AL, Laurent N, Lefebvre M, Huet F, Houcinat N, Moutton S, Philippe C, Tran-Mau-Them F, Vitobello A, Kuentz P, Duffourd Y, Rivière JB, Thevenon J, Faivre L. Bourchany A, et al. Among authors: moutton s. Eur J Med Genet. 2017 Nov;60(11):595-604. doi: 10.1016/j.ejmg.2017.08.011. Epub 2017 Aug 12. Eur J Med Genet. 2017. PMID: 28807864
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.
Bruel AL, Thevenon J, Huet F, Jean-Marcais N, Odent S, Dubourg C, Lehalle D, Tran Mau-Them F, Philippe C, Moutton S, Houcinat N, Gay S, Guibaud L, Duffourd Y, Rivière JB, Faivre L, Thauvin-Robinet C. Bruel AL, et al. Among authors: moutton s. Clin Genet. 2018 Jul;94(1):182-184. doi: 10.1111/cge.13211. Epub 2018 Mar 2. Clin Genet. 2018. PMID: 29498412 No abstract available.
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogné B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH; University of Washington Center for Mendelian Genomics; DDD Study; Reis A, Sticht H, Zweier C. Gregor A, et al. Among authors: moutton s. Am J Hum Genet. 2018 Aug 2;103(2):305-316. doi: 10.1016/j.ajhg.2018.07.003. Epub 2018 Jul 26. Am J Hum Genet. 2018. PMID: 30057029 Free PMC article.
2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases.
Bruel AL, Vitobello A, Mau-Them FT, Nambot S, Duffourd Y, Quéré V, Kuentz P, Garret P, Thevenon J, Moutton S, Lehalle D, Jean-Marçais N; Orphanomix Physicians’ Group; Garde A, Delanne J, Lefebvre M, Lecoquierre F, Trost D, Cho M, Begtrup A, Telegrafi A, Vabres P, Mosca-Boidron AL, Callier P, Philippe C, Faivre L, Thauvin-Robinet C. Bruel AL, et al. Among authors: moutton s. Genet Med. 2019 Jul;21(7):1657-1661. doi: 10.1038/s41436-018-0383-z. Epub 2018 Dec 19. Genet Med. 2019. PMID: 30563986 Free article.
Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants.
Lecoquierre F, Duffourd Y, Vitobello A, Bruel AL, Urteaga B, Coubes C, Garret P, Nambot S, Chevarin M, Jouan T, Moutton S; Orphanomix Physician’s Group; Tran-Mau-Them F, Philippe C, Sorlin A, Faivre L, Thauvin-Robinet C. Lecoquierre F, et al. Among authors: moutton s. Genet Med. 2019 Nov;21(11):2504-2511. doi: 10.1038/s41436-019-0518-x. Epub 2019 Apr 30. Genet Med. 2019. PMID: 31036916 Free article.
104 results