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Page 1
Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA.
Ganesh VS, Riquin K, Chatron N, Lamar KM, Aziz MC, Monin P, O'Leary M, Goodrich JK, Garimella KV, England E, Yoon E, Weisburd B, Aguet F, Bacino CA, Murdock DR, Dai H, Rosenfeld JA, Emrick LT, Ketkar S; Undiagnosed Diseases Network; Sarusi Y, Sanlaville D, Kayani S, Broadbent B, Isidor B, Pengam A, Cogné B, MacArthur DG, Ulitsky I, Carvill GL, O'Donnell-Luria A. Ganesh VS, et al. Among authors: isidor b. medRxiv [Preprint]. 2024 Feb 7:2024.01.31.24301497. doi: 10.1101/2024.01.31.24301497. medRxiv. 2024. PMID: 38496558 Free PMC article. Preprint.
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel C, Ellis JL, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann S, van der Schoot V, Brunet T, Bußmann C, Mignot C, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, Wang T. Blackburn PR, et al. Among authors: isidor b. medRxiv [Preprint]. 2023 Jun 16:2023.06.13.23290941. doi: 10.1101/2023.06.13.23290941. medRxiv. 2023. Update in: Ann Neurol. 2024 Sep 20. doi: 10.1002/ana.27077 PMID: 37398376 Free PMC article. Updated. Preprint.
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Küry S, Stanton JE, van Woerden G, Hsieh TC, Rosenfelt C, Scott-Boyer MP, Most V, Wang T, Papendorf JJ, de Konink C, Deb W, Vignard V, Studencka-Turski M, Besnard T, Hajdukowicz AM, Thiel F, Möller S, Florenceau L, Cuinat S, Marsac S, Wentzensen I, Tuttle A, Forster C, Striesow J, Golnik R, Ortiz D, Jenkins L, Rosenfeld JA, Ziegler A, Houdayer C, Bonneau D, Torti E, Begtrup A, Monaghan KG, Mullegama SV, Volker-Touw CMLN, van Gassen KLI, Oegema R, de Pagter M, Steindl K, Rauch A, Ivanovski I, McDonald K, Boothe E, Dauber A, Baker J, Fabie NAV, Bernier RA, Turner TN, Srivastava S, Dies KA, Swanson L, Costin C, Jobling RK, Pappas J, Rabin R, Niyazov D, Tsai AC, Kovak K, Beck DB, Malicdan M, Adams DR, Wolfe L, Ganetzky RD, Muraresku C, Babikyan D, Sedláček Z, Hančárová M, Timberlake AT, Al Saif H, Nestler B, King K, Hajianpour MJ, Costain G, Prendergast D, Li C, Geneviève D, Vitobello A, Sorlin A, Philippe C, Harel T, Toker O, Sabir A, Lim D, Hamilton M, Bryson L, Cleary E, Weber S, Hoffman TL, Cueto-González AM, Tizzano EF, Gómez-Andrés D, Codina-Solà M, Ververi A, Pavlidou E, Lambropoulos A, Garganis K, Rio M, Levy J, Jurgensmeyer S, McRae AM, Lessard MK, D'Agostino MD, De Bie I, We… See abstract for full author list ➔ Küry S, et al. Among authors: isidor b. medRxiv [Preprint]. 2024 Jan 26:2024.01.13.24301174. doi: 10.1101/2024.01.13.24301174. medRxiv. 2024. PMID: 38293138 Free PMC article. Preprint.
A new neurodevelopmental disorder linked to heterozygous variants in UNC79.
Bayat A, Liu Z, Luo S, Fenger CD, Højte AF, Isidor B, Cogne B, Larson A, Zanus C, Faletra F, Keren B, Musante L, Gourfinkel-An I, Perrine C, Demily C, Lesca G, Liao W, Ren D. Bayat A, et al. Among authors: isidor b. Genet Med. 2023 Sep;25(9):100894. doi: 10.1016/j.gim.2023.100894. Epub 2023 May 11. Genet Med. 2023. PMID: 37183800 Free article.
USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.
Koch I, Slovik M, Zhang Y, Liu B, Rennie M, Konz E, Cogne B, Daana M, Davids L, Diets IJ, Gold NB, Holtz AM, Isidor B, Mor-Shaked H, Neira Fresneda J, Niederhoffer KY, Nizon M, Pfundt R, Simon M, Stegmann A, Guillen Sacoto MJ, Wevers M, Barakat TS, Yanovsky-Dagan S, Atanassov BS, Toth R, Gao C, Bustos F, Harel T. Koch I, et al. Among authors: isidor b. Life Sci Alliance. 2024 Jan 5;7(3):e202302258. doi: 10.26508/lsa.202302258. Print 2024 Mar. Life Sci Alliance. 2024. PMID: 38182161 Free PMC article.
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Picketts D, Mirzaa G, Yan K, Relator R, Timpano S, Yalcin B, Collins S, Ziegler A, Pao E, Oyama N, Brischoux-Boucher E, Piard J, Monaghan K, Sacoto MG, Dobyns W, Park K, Fernández-Mayoralas D, Fernández-Jaén A, Jayakar P, Brusco A, Antona V, Giorgio E, Kvarnung M, Isidor B, Conrad S, Cogné B, Deb W, Stuurman KE, Sterbova K, Smal N, Weckhuysen S, Oegema R, Innes M, Latsko M, Ben-Omran T, Yeh R, Kruer M, Bakhtiari S, Papavasiliou A, Moutton S, Nambot S, Chanprasert S, Paolucci S, Miller K, Burton B, Kim K, O'Heir E, Bruwer Z, Donald K, Kleefstra T, Goldstein A, Angle B, Bontempo K, Miny P, Joset P, Demurger F, Hobson E, Pang L, Carpenter L, Li D, Bonneau D, Sadikovic B. Picketts D, et al. Among authors: isidor b. Res Sq [Preprint]. 2023 Sep 29:rs.3.rs-3317938. doi: 10.21203/rs.3.rs-3317938/v1. Res Sq. 2023. PMID: 37841849 Free PMC article. Preprint.
A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease.
Molitor A, Lederle A, Radosavljevic M, Sapuru V, Zavorka Thomas ME, Yang J, Shirin M, Collin-Bund V, Jerabkova-Roda K, Miao Z, Bernard A, Rolli V, Grenot P, Castro CN, Rosenzwajg M, Lewis EG, Person R, Esperón-Moldes US, Kaare M, Nokelainen PT, Batzir NA, Hoffer GZ, Paul N, Stemmelen T, Naegely L, Hanauer A, Bibi-Triki S, Grün S, Jung S, Busnelli I, Tripolszki K, Al-Ali R, Ordonez N, Bauer P, Song E, Zajo K, Partida-Sanchez S, Robledo-Avila F, Kumanovics A, Louzoun Y, Hirschler A, Pichot A, Toker O, Mejía CAM, Parvaneh N, Knapp E, Hersh JH, Kenney H, Delmonte OM, Notarangelo LD, Goetz JG, Kahwash SB, Carapito C, Bajwa RPS, Thomas C, Ehl S, Isidor B, Carapito R, Abraham RS, Hite RK, Marcus N, Bertoli-Avella A, Bahram S. Molitor A, et al. Among authors: isidor b. Sci Adv. 2024 Sep 13;10(37):eado5545. doi: 10.1126/sciadv.ado5545. Epub 2024 Sep 13. Sci Adv. 2024. PMID: 39270020 Free PMC article.
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.
Rötig A, Gaignard P, Barcia G, Assouline Z, Berat CM, Barth M, Damaj L, Laborde N, Abi-Warde MT, Chabrol B, De Lonlay P, Desguerre I, Goldenberg A, Gonzales E, Jacquemin E, Amati-Bonneau P, Bonneau D, Abadie V, Bonnemains C, Broue P, De Saint-Martin A, Durand P, Fouilhoux A, Isidor B, Jaroussie M, Jedraszak G, Maurey H, Mention K, Odent SS, Pasquier L, Rougeot-Jung C, Gitiaux C, Roux CJ, Boddaert N, Munnich A, Schiff M. Rötig A, et al. Among authors: isidor b. Neurol Genet. 2024 Jul 3;10(4):e200167. doi: 10.1212/NXG.0000000000200167. eCollection 2024 Aug. Neurol Genet. 2024. PMID: 38975049 Free PMC article.
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.
Jeanne M, Ronce N, Remizé S, Arpin S, Baujat G, Breton S, Petit F, Vanlerberghe C, Coeslier-Dieux A, Manouvrier-Hanu S, Vincent-Delorme C, Khau Van Kien P, Van-Gils J, Quélin C, Pasquier L, Odent S, Demurger F, Laffargue F, Francannet C, Martin-Coignard D, Afenjar A, Whalen S, Verloes A, Capri Y, Delahaye A, Plaisancié J, Labrune P, Destree A, Maystadt I, Ciorna Monferrato V, Isidor B, Vincent M, Jean Marçais N, Nambot S, Schaefer E, El Chehadeh S, Lespinasse J, Collignon P, Busa T, Philip N, Willems M, Planes M, Vanakker OM, Lambert L, Leheup B, Mathieu-Dramard M, Morin G, Dieterich K, Ginglinger E, Bayat A, Balasubramanian M, Dauriat B, Haye D, Amiel J, Rio M, Cormier-Daire V, Toutain A. Jeanne M, et al. Among authors: isidor b. J Med Genet. 2025 Jan 11:jmg-2022-108868. doi: 10.1136/jmg-2022-108868. Online ahead of print. J Med Genet. 2025. PMID: 39798962
376 results