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2002 1
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2011 6
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2013 12
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111 results

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Page 1
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.
Pérez Baca MDR, Jacobs EZ, Vantomme L, Leblanc P, Bogaert E, Dheedene A, De Cock L, Haghshenas S, Foroutan A, Levy MA, Kerkhof J, McConkey H, Chen CA, Batzir NA, Wang X, Palomares M, Carels M; ZFHX3 consortium; Dermaut B, Sadikovic B, Menten B, Yuan B, Vergult S, Callewaert B. Pérez Baca MDR, et al. Am J Hum Genet. 2024 Mar 7;111(3):509-528. doi: 10.1016/j.ajhg.2024.01.013. Epub 2024 Feb 26. Am J Hum Genet. 2024. PMID: 38412861 Free PMC article.
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA. Beunders G, et al. Among authors: vanakker o. Am J Hum Genet. 2013 Feb 7;92(2):210-20. doi: 10.1016/j.ajhg.2012.12.011. Epub 2013 Jan 17. Am J Hum Genet. 2013. PMID: 23332918 Free PMC article.
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.
Ervilha Pereira P, Schuermans N, Meylemans A, LeBlanc P, Versluys L, Copley KE, Rubien JD, Altheimer C, Peetermans M, Debackere E, Vanakker O, Janssens S, Baets J, Verhoeven K, Lammens M, Symoens S, De Paepe B, Barmada SJ, Shorter J, De Bleecker JL, Bogaert E, Dermaut B. Ervilha Pereira P, et al. Among authors: vanakker o. Acta Neuropathol. 2023 Jun;145(6):793-814. doi: 10.1007/s00401-023-02565-1. Epub 2023 Mar 31. Acta Neuropathol. 2023. PMID: 37000196 Free PMC article.
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.
Brooker SM, Novelli M, Coukos R, Prakash N, Kamel WA, Amengual-Gual M, Anheim M, Barcia G, Bardakjian T, Baur F, Berweck S, Bölsterli BK, Brugger M, Cassini T, Chatron N, Corner B, Dafsari HS, de Sainte Agathe JM, Ellis CA, Ezell KM, Foucard C, Frucht SJ, Garcia MC, Gill D, Guimier A, Hamid R, Heine-Suñer D, Herkenrath P, Hully M, Isaias IU, Januel L, Laurencin C, Laut T, Lavillaureix A, Lesca G, Lesieur-Sebellin M, Magistrelli L, Marelli C, Mefford HC, Mendelsohn BA, Mercimek-Andrews S, Miller C, Mohammad SS, Morgante F, Nandipati S, Opladen T, Padmanaban M, Pauni M, Pezzoli G, Piton A, Ramond F, Riboldi GM, Rougeot-Jung C, Santos-Simarro F, Scheffer IE, Serari N, Stahl CM, Kung AS, Tarongí Sanchez S, Thauvin-Robinet C, Till M, Tranchant C, Troedson C, Tropea TF, Vanakker O, Vega P, Wiese ML, Wieshmann U, Williams LJ, Wirth T, Zech M, Zempel H, Roze E, Leuzzi V, Galosi S, Fung VSC, Carvill G, Krainc D, Gerard E, Mencacci NE. Brooker SM, et al. Among authors: vanakker o. Ann Neurol. 2025 Sep;98(3):561-572. doi: 10.1002/ana.27272. Epub 2025 Jul 1. Ann Neurol. 2025. PMID: 40590478 Free PMC article.
Cellular signaling in pseudoxanthoma elasticum: an update.
Van Gils M, Nollet L, Verly E, Deianova N, Vanakker OM. Van Gils M, et al. Among authors: vanakker om. Cell Signal. 2019 Mar;55:119-129. doi: 10.1016/j.cellsig.2018.12.009. Epub 2019 Jan 4. Cell Signal. 2019. PMID: 30615970 Review.
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.
Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, Isidor B, Cogné B, Beysen D, Rollier P, Fradin M, Pasquier L, Guella I, Hickey SE, Benke PJ, Shillington A, Kumps C, Vanakker O, Gerkes EH, Lakhani S, Romanova I, Kanivets I, Brugger M, Vill K, Caylor RC, Skinner C, Tinker RJ, Stödberg T, Nümann A, Haack TB, Deininger N, Hengel H, Jury J, Conrad S, Mercier S, Yoon G, Tsuboyama M, Barcia G, Gitiaux C, Rio M, Bevot A, Redon S, Uguen K, Wonneberger A, Schulz A, Timmann D, Karlowicz DH, Chatron N, Carnevale A, Mahida S, Õunap K, Kury S, Cabet S, Lesca G. Talarico M, et al. Among authors: vanakker o. Genet Med. 2025 Apr;27(4):101347. doi: 10.1016/j.gim.2024.101347. Epub 2024 Dec 17. Genet Med. 2025. PMID: 39707840 Free article.
The Genetics of Soft Connective Tissue Disorders.
Vanakker O, Callewaert B, Malfait F, Coucke P. Vanakker O, et al. Annu Rev Genomics Hum Genet. 2015;16:229-55. doi: 10.1146/annurev-genom-090314-050039. Epub 2015 May 18. Annu Rev Genomics Hum Genet. 2015. PMID: 26002060 Review.
Genotype-phenotype correlation in pseudoxanthoma elasticum.
Bartstra JW, Risseeuw S, de Jong PA, van Os B, Kalsbeek L, Mol C, Baas AF, Verschuere S, Vanakker O, Florijn RJ, Hendrikse J, Mali W, Imhof S, Ossewaarde-van Norel J, van Leeuwen R, Spiering W. Bartstra JW, et al. Among authors: vanakker o. Atherosclerosis. 2021 May;324:18-26. doi: 10.1016/j.atherosclerosis.2021.03.012. Epub 2021 Mar 13. Atherosclerosis. 2021. PMID: 33812167 Free article.
111 results