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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 3
2008 1
2009 4
2010 4
2011 4
2012 3
2013 8
2014 7
2015 7
2016 9
2017 6
2018 3
2019 3
2020 4
2021 5
2022 8
2023 4
2024 1

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70 results

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Page 1
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE. Coe BP, et al. Among authors: hehir kwa jy. Nat Genet. 2014 Oct;46(10):1063-71. doi: 10.1038/ng.3092. Epub 2014 Sep 14. Nat Genet. 2014. PMID: 25217958 Free PMC article.
Genome sequencing identifies major causes of severe intellectual disability.
Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BW, Willemsen MH, Kwint M, Janssen IM, Hoischen A, Schenck A, Leach R, Klein R, Tearle R, Bo T, Pfundt R, Yntema HG, de Vries BB, Kleefstra T, Brunner HG, Vissers LE, Veltman JA. Gilissen C, et al. Among authors: hehir kwa jy. Nature. 2014 Jul 17;511(7509):344-7. doi: 10.1038/nature13394. Epub 2014 Jun 4. Nature. 2014. PMID: 24896178 Free article.
Mesenchymal tumor organoid models recapitulate rhabdomyosarcoma subtypes.
Meister MT, Groot Koerkamp MJA, de Souza T, Breunis WB, Frazer-Mendelewska E, Brok M, DeMartino J, Manders F, Calandrini C, Kerstens HHD, Janse A, Dolman MEM, Eising S, Langenberg KPS, van Tuil M, Knops RRG, van Scheltinga ST, Hiemcke-Jiwa LS, Flucke U, Merks JHM, van Noesel MM, Tops BBJ, Hehir-Kwa JY, Kemmeren P, Molenaar JJ, van de Wetering M, van Boxtel R, Drost J, Holstege FCP. Meister MT, et al. Among authors: hehir kwa jy. EMBO Mol Med. 2022 Oct 10;14(10):e16001. doi: 10.15252/emmm.202216001. Epub 2022 Aug 2. EMBO Mol Med. 2022. PMID: 35916583 Free PMC article.
Epigenetic regulator genes direct lineage switching in MLL/AF4 leukemia.
Tirtakusuma R, Szoltysek K, Milne P, Grinev VV, Ptasinska A, Chin PS, Meyer C, Nakjang S, Hehir-Kwa JY, Williamson D, Cauchy P, Keane P, Assi SA, Ashtiani M, Kellaway SG, Imperato MR, Vogiatzi F, Schweighart EK, Lin S, Wunderlich M, Stutterheim J, Komkov A, Zerkalenkova E, Evans P, McNeill H, Elder A, Martinez-Soria N, Fordham SE, Shi Y, Russell LJ, Pal D, Smith A, Kingsbury Z, Becq J, Eckert C, Haas OA, Carey P, Bailey S, Skinner R, Miakova N, Collin M, Bigley V, Haniffa M, Marschalek R, Harrison CJ, Cargo CA, Schewe D, Olshanskaya Y, Thirman MJ, Cockerill PN, Mulloy JC, Blair HJ, Vormoor J, Allan JM, Bonifer C, Heidenreich O, Bomken S. Tirtakusuma R, et al. Among authors: hehir kwa jy. Blood. 2022 Oct 27;140(17):1875-1890. doi: 10.1182/blood.2021015036. Blood. 2022. PMID: 35839448 Free PMC article.
Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers.
Boen R, Kaufmann T, van der Meer D, Frei O, Agartz I, Ames D, Andersson M, Armstrong NJ, Artiges E, Atkins JR, Bauer J, Benedetti F, Boomsma DI, Brodaty H, Brosch K, Buckner RL, Cairns MJ, Calhoun V, Caspers S, Cichon S, Corvin AP, Crespo-Facorro B, Dannlowski U, David FS, de Geus EJC, de Zubicaray GI, Desrivières S, Doherty JL, Donohoe G, Ehrlich S, Eising E, Espeseth T, Fisher SE, Forstner AJ, Fortaner-Uyà L, Frouin V, Fukunaga M, Ge T, Glahn DC, Goltermann J, Grabe HJ, Green MJ, Groenewold NA, Grotegerd D, Grøntvedt GR, Hahn T, Hashimoto R, Hehir-Kwa JY, Henskens FA, Holmes AJ, Håberg AK, Haavik J, Jacquemont S, Jansen A, Jockwitz C, Jönsson EG, Kikuchi M, Kircher T, Kumar K, Le Hellard S, Leu C, Linden DE, Liu J, Loughnan R, Mather KA, McMahon KL, McRae AF, Medland SE, Meinert S, Moreau CA, Morris DW, Mowry BJ, Mühleisen TW, Nenadić I, Nöthen MM, Nyberg L, Ophoff RA, Owen MJ, Pantelis C, Paolini M, Paus T, Pausova Z, Persson K, Quidé Y, Marques TR, Sachdev PS, Sando SB, Schall U, Scott RJ, Selbæk G, Shumskaya E, Silva AI, Sisodiya SM, Stein F, Stein DJ, Straube B, Streit F, Strike LT, Teumer A, Teutenberg L, Thalamuthu A, Tooney PA, Tordesillas-Gutierrez D, Trollor JN, … See abstract for full author list ➔ Boen R, et al. Among authors: hehir kwa jy. Biol Psychiatry. 2024 Jan 15;95(2):147-160. doi: 10.1016/j.biopsych.2023.08.018. Epub 2023 Sep 3. Biol Psychiatry. 2024. PMID: 37661008 Free PMC article.
1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans.
Sønderby IE, van der Meer D, Moreau C, Kaufmann T, Walters GB, Ellegaard M, Abdellaoui A, Ames D, Amunts K, Andersson M, Armstrong NJ, Bernard M, Blackburn NB, Blangero J, Boomsma DI, Brodaty H, Brouwer RM, Bülow R, Bøen R, Cahn W, Calhoun VD, Caspers S, Ching CRK, Cichon S, Ciufolini S, Crespo-Facorro B, Curran JE, Dale AM, Dalvie S, Dazzan P, de Geus EJC, de Zubicaray GI, de Zwarte SMC, Desrivieres S, Doherty JL, Donohoe G, Draganski B, Ehrlich S, Eising E, Espeseth T, Fejgin K, Fisher SE, Fladby T, Frei O, Frouin V, Fukunaga M, Gareau T, Ge T, Glahn DC, Grabe HJ, Groenewold NA, Gústafsson Ó, Haavik J, Haberg AK, Hall J, Hashimoto R, Hehir-Kwa JY, Hibar DP, Hillegers MHJ, Hoffmann P, Holleran L, Holmes AJ, Homuth G, Hottenga JJ, Hulshoff Pol HE, Ikeda M, Jahanshad N, Jockwitz C, Johansson S, Jönsson EG, Jørgensen NR, Kikuchi M, Knowles EEM, Kumar K, Le Hellard S, Leu C, Linden DEJ, Liu J, Lundervold A, Lundervold AJ, Maillard AM, Martin NG, Martin-Brevet S, Mather KA, Mathias SR, McMahon KL, McRae AF, Medland SE, Meyer-Lindenberg A, Moberget T, Modenato C, Sánchez JM, Morris DW, Mühleisen TW, Murray RM, Nielsen J, Nordvik JE, Nyberg L, Loohuis LMO, Ophoff RA, Owen MJ, Pau… See abstract for full author list ➔ Sønderby IE, et al. Among authors: hehir kwa jy. Transl Psychiatry. 2021 Mar 22;11(1):182. doi: 10.1038/s41398-021-01213-0. Transl Psychiatry. 2021. PMID: 33753722 Free PMC article.
Systematic discovery of gene fusions in pediatric cancer by integrating RNA-seq and WGS.
van Belzen IAEM, Cai C, van Tuil M, Badloe S, Strengman E, Janse A, Verwiel ETP, van der Leest DFM, Kester L, Molenaar JJ, Meijerink J, Drost J, Peng WC, Kerstens HHD, Tops BBJ, Holstege FCP, Kemmeren P, Hehir-Kwa JY. van Belzen IAEM, et al. Among authors: hehir kwa jy. BMC Cancer. 2023 Jul 3;23(1):618. doi: 10.1186/s12885-023-11054-3. BMC Cancer. 2023. PMID: 37400763 Free PMC article.
Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'.
Langenberg KPS, Meister MT, Bakhuizen JJ, Boer JM, van Eijkelenburg NKA, Hulleman E, Ilan U, Looze EJ, Dierselhuis MP, van der Lugt J, Breunis W, Schild LG, Ober K, van Hooff SR, Scheijde-Vermeulen MA, Hiemcke-Jiwa LS, Flucke UE, Kranendonk MEG, Wesseling P, Sonneveld E, Punt S, Boltjes A, van Dijk F, Verwiel ETP, Volckmann R, Hehir-Kwa JY, Kester LA, Koudijs MMJ, Waanders E, Holstege FCP, Vormoor HJ, Hoving EW, van Noesel MM, Pieters R, Kool M, Stumpf M, Blattner-Johnson M, Balasubramanian GP, Van Tilburg CM, Jones BC, Jones DTW, Witt O, Pfister SM, Jongmans MCJ, Kuiper RP, de Krijger RR, Wijnen MHW, den Boer ML, Zwaan CM, Kemmeren P, Koster J, Tops BBJ, Goemans BF, Molenaar JJ. Langenberg KPS, et al. Among authors: hehir kwa jy. Eur J Cancer. 2022 Nov;175:311-325. doi: 10.1016/j.ejca.2022.09.001. Epub 2022 Sep 29. Eur J Cancer. 2022. PMID: 36182817 Free PMC article.
70 results