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Year Number of Results
2013 2
2014 2
2015 2
2016 3
2017 1
2019 2
2020 3
2021 3
2022 5
2023 6
2024 1

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26 results

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Page 1
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study; Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study; Férec C, … See abstract for full author list ➔ Cogné B, et al. Among authors: guimier a. Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28. Am J Hum Genet. 2019. PMID: 30827496 Free PMC article.
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, Alkuraya FS, Baglioni V, Bagnasco I, Becmeur-Lefebvre M, Bertini E, Borggraefe I, Brischoux-Boucher E, Bruel AL, Brusco A, Bubshait DK, Cabrol C, Cilio MR, Cornet MC, Coubes C, Danhaive O, Delague V, Denommé-Pichon AS, Di Giacomo MC, Doco-Fenzy M, Engels H, Cremer K, Gérard M, Gleeson JG, Heron D, Goffeney J, Guimier A, Harms FL, Houlden H, Iacomino M, Kaiyrzhanov R, Kamien B, Karimiani EG, Kraus D, Kuentz P, Kutsche K, Lederer D, Massingham L, Mignot C, Morris-Rosendahl D, Nagarajan L, Odent S, Ormières C, Partlow JN, Pasquier L, Penney L, Philippe C, Piccolo G, Poulton C, Putoux A, Rio M, Rougeot C, Salpietro V, Scheffer I, Schneider A, Srivastava S, Straussberg R, Striano P, Valente EM, Venot P, Villard L, Vitobello A, Wagner J, Wagner M, Zaki MS, Zara F, Lesca G, Yassaee VR, Miryounesi M, Hashemi-Gorji F, Beiraghi M, Ashrafzadeh F, Galehdari H, Walsh C, Novelli A, Tacke M, Sadykova D, Maidyrov Y, Koneev K, Shashkin C, Capra V, Zamani M, Van Maldergem L, Burglen L, Piard J. Engel C, et al. Among authors: guimier a. Eur J Hum Genet. 2023 Sep;31(9):1023-1031. doi: 10.1038/s41431-023-01410-z. Epub 2023 Jun 21. Eur J Hum Genet. 2023. PMID: 37344571 Free article.
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: guimier a. 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.
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Engal E, Oja KT, Maroofian R, Geminder O, Le TL, Marzin P, Guimier A, Mor E, Zvi N, Elefant N, Zaki MS, Gleeson JG, Muru K, Pajusalu S, Wojcik MH, Pachat D, Elmaksoud MA, Chan Jeong W, Lee H, Bauer P, Zifarelli G, Houlden H, Daana M, Elpeleg O, Amiel J, Lyonnet S, Gordon CT, Harel T, Õunap K, Salton M, Mor-Shaked H. Engal E, et al. Among authors: guimier a. Am J Hum Genet. 2023 Dec 7;110(12):2112-2119. doi: 10.1016/j.ajhg.2023.10.013. Epub 2023 Nov 13. Am J Hum Genet. 2023. PMID: 37963460
Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.
Ranza E, Le Gouez M, Guimier A, Dunlop NK, Beaudoin S, Malan V, Michot C, Baujat G, Rio M, Cormier-Daire V, Abadie V, Sarnacki S, Delacourt C, Lyonnet S, Attié-Bitach T, Pingault V, Rousseau V, Amiel J. Ranza E, et al. Among authors: guimier a. Am J Med Genet A. 2023 Jan;191(1):77-83. doi: 10.1002/ajmg.a.62989. Epub 2022 Oct 21. Am J Med Genet A. 2023. PMID: 36271508
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
Motta M, Solman M, Bonnard AA, Kuechler A, Pantaleoni F, Priolo M, Chandramouli B, Coppola S, Pizzi S, Zara E, Ferilli M, Kayserili H, Onesimo R, Leoni C, Brinkmann J, Vial Y, Kamphausen SB, Thomas-Teinturier C, Guimier A, Cordeddu V, Mazzanti L, Zampino G, Chillemi G, Zenker M, Cavé H, den Hertog J, Tartaglia M. Motta M, et al. Among authors: guimier a. Hum Mol Genet. 2022 Aug 23;31(16):2766-2778. doi: 10.1093/hmg/ddac071. Hum Mol Genet. 2022. PMID: 35348676 Free PMC article.
Cleft palate lateral synechia syndrome in two patients and literature review.
Plantin S, Fabre M, Soupre V, Guimier A, Agostini V, Gordon CT, Galliani E, Picard A, Morice A. Plantin S, et al. Among authors: guimier a. Int J Oral Maxillofac Surg. 2022 Mar;51(3):347-354. doi: 10.1016/j.ijom.2021.07.012. Epub 2021 Aug 26. Int J Oral Maxillofac Surg. 2022. PMID: 34456081 Review.
16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing.
Nicolle R, Siquier-Pernet K, Rio M, Guimier A, Ollivier E, Nitschke P, Bole-Feysot C, Romana S, Hastie A, Cantagrel V, Malan V. Nicolle R, et al. Among authors: guimier a. Eur J Hum Genet. 2022 Jun;30(6):712-720. doi: 10.1038/s41431-022-01094-x. Epub 2022 Apr 7. Eur J Hum Genet. 2022. PMID: 35388186 Free PMC article.
Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans.
Guimier A, de Pontual L, Braddock SR, Torti E, Pérez-Jurado LA, Muñoz-Cabello P, Arumí M, Monaghan KG, Lee H, Wang LK, Pluym ID, Lynch SA, Stals K, Ellard S, Muller C, Houyel L, Cohen L, Lyonnet S, Bajolle F, Amiel J, Gordon CT. Guimier A, et al. Hum Mol Genet. 2023 Jan 13;32(3):353-356. doi: 10.1093/hmg/ddac084. Hum Mol Genet. 2023. PMID: 35396997 No abstract available.
26 results