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Year Number of Results
2003 1
2005 2
2006 2
2007 2
2008 2
2009 2
2010 3
2011 3
2012 2
2013 7
2014 12
2015 7
2016 4
2017 5
2018 7
2019 8
2020 5
2021 3
2022 7
2023 6
2024 5

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78 results

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Page 1
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Díaz-Manera J, Gallardo E, Karaduman AA, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Béroud C, Lochmüller H. Bladen CL, et al. Among authors: van den bergen jc. Hum Mutat. 2015 Apr;36(4):395-402. doi: 10.1002/humu.22758. Epub 2015 Mar 17. Hum Mutat. 2015. PMID: 25604253 Free PMC article.
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH. Eggers S, et al. Among authors: van den bergen ja. Genome Biol. 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y. Genome Biol. 2016. PMID: 27899157 Free PMC article.
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Ayers KL, Eggers S, Rollo BN, Smith KR, Davidson NM, Siddall NA, Zhao L, Bowles J, Weiss K, Zanni G, Burglen L, Ben-Shachar S, Rosensaft J, Raas-Rothschild A, Jørgensen A, Schittenhelm RB, Huang C, Robevska G, van den Bergen J, Casagranda F, Cyza J, Pachernegg S, Wright DK, Bahlo M, Oshlack A, O'Brien TJ, Kwan P, Koopman P, Hime GR, Girard N, Hoffmann C, Shilon Y, Zung A, Bertini E, Milh M, Ben Rhouma B, Belguith N, Bashamboo A, McElreavey K, Banne E, Weintrob N, BenZeev B, Sinclair AH. Ayers KL, et al. Among authors: van den bergen j. Nat Commun. 2023 Jun 9;14(1):3403. doi: 10.1038/s41467-023-39040-0. Nat Commun. 2023. PMID: 37296101 Free PMC article.
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.
Bakhshalizadeh S, Hock DH, Siddall NA, Kline BL, Sreenivasan R, Bell KM, Casagranda F, Kamalanathan S, Sahoo J, Narayanan N, Naik D, Suryadevara V, Compton AG, Amarasekera SSC, Kapoor R, Jaillard S, Simpson A, Robevska G, van den Bergen J, Pachernegg S, Ayers KL, Thorburn DR, Stroud DA, Hime GR, Sinclair AH, Tucker EJ. Bakhshalizadeh S, et al. Among authors: van den bergen j. Hum Genet. 2023 Jul;142(7):879-907. doi: 10.1007/s00439-023-02563-z. Epub 2023 May 6. Hum Genet. 2023. PMID: 37148394 Free PMC article.
A joint international consensus statement for measuring quality of survival for patients with childhood cancer.
van Kalsbeek RJ, Hudson MM, Mulder RL, Ehrhardt M, Green DM, Mulrooney DA, Hakkert J, den Hartogh J, Nijenhuis A, van Santen HM, Schouten-van Meeteren AYN, van Tinteren H, Verbruggen LC, Conklin HM, Jacola LM, Webster RT, Partanen M, Kollen WJW, Grootenhuis MA, Pieters R, Kremer LCM; International Childhood Cancer Outcome Project participants. van Kalsbeek RJ, et al. Nat Med. 2023 Jun;29(6):1340-1348. doi: 10.1038/s41591-023-02339-y. Epub 2023 Jun 15. Nat Med. 2023. PMID: 37322119 Review.
Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.
Tucker EJ, Baker MJ, Hock DH, Warren JT, Jaillard S, Bell KM, Sreenivasan R, Bakhshalizadeh S, Hanna CA, Caruana NJ, Wortmann SB, Rahman S, Pitceathly RDS, Donadieu J, Alimi A, Launay V, Coppo P, Christin-Maitre S, Robevska G, van den Bergen J, Kline BL, Ayers KL, Stewart PN, Stroud DA, Stojanovski D, Sinclair AH. Tucker EJ, et al. Among authors: van den bergen j. J Clin Endocrinol Metab. 2022 Nov 25;107(12):3328-3340. doi: 10.1210/clinem/dgac528. J Clin Endocrinol Metab. 2022. PMID: 36074910 Free PMC article.
TP63-truncating variants cause isolated premature ovarian insufficiency.
Tucker EJ, Jaillard S, Grover SR, van den Bergen J, Robevska G, Bell KM, Sadedin S, Hanna C, Dulon J, Touraine P, Sinclair AH. Tucker EJ, et al. Among authors: van den bergen j. Hum Mutat. 2019 Jul;40(7):886-892. doi: 10.1002/humu.23744. Epub 2019 Mar 29. Hum Mutat. 2019. PMID: 30924587
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.
Tucker EJ, Gutfreund N, Belaud-Rotureau MA, Gilot D, Brun T, Kline BL, Bell KM, Domin-Bernhard M, Théard C, Touraine P, Robevska G, van van den Bergen J, Ayers KL, Sinclair AH, Dötsch V, Jaillard S. Tucker EJ, et al. Among authors: van van den bergen j. Hum Mutat. 2022 Oct;43(10):1443-1453. doi: 10.1002/humu.24432. Epub 2022 Jul 29. Hum Mutat. 2022. PMID: 35801529 Free PMC article.
Author Correction: A joint international consensus statement for measuring quality of survival for patients with childhood cancer.
van Kalsbeek RJ, Hudson MM, Mulder RL, Ehrhardt M, Green DM, Mulrooney DA, Hakkert J, den Hartogh J, Nijenhuis A, van Santen HM, Schouten-van Meeteren AYN, van Tinteren H, Verbruggen LC, Conklin HM, Jacola LM, Webster RT, Partanen M, Kollen WJW, Grootenhuis MA, Pieters R, Kremer LCM; International Childhood Cancer Outcome Project participants. van Kalsbeek RJ, et al. Nat Med. 2024 Feb;30(2):603. doi: 10.1038/s41591-023-02651-7. Nat Med. 2024. PMID: 37963955 No abstract available.
Author Correction: A joint international consensus statement for measuring quality of survival for patients with childhood cancer.
van Kalsbeek RJ, Hudson MM, Mulder RL, Ehrhardt M, Green DM, Mulrooney DA, Hakkert J, den Hartogh J, Nijenhuis A, van Santen HM, Schouten-van Meeteren AYN, van Tinteren H, Verbruggen LC, Conklin HM, Jacola LM, Webster RT, Partanen M, Kollen WJW, Grootenhuis MA, Pieters R, Kremer LCM; International Childhood Cancer Outcome Project participants. van Kalsbeek RJ, et al. Nat Med. 2024 Feb;30(2):605. doi: 10.1038/s41591-023-02753-2. Nat Med. 2024. PMID: 38092898 No abstract available.
78 results