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

Year Number of Results
2008 2
2010 1
2011 1
2012 5
2013 2
2014 5
2015 3
2016 4
2017 3
2018 4
2019 3
2020 4
2021 6
2022 4
2023 7
2024 2

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49 results

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Page 1
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
van Jaarsveld RH, Reilly J, Cornips MC, Hadders MA, Agolini E, Ahimaz P, Anyane-Yeboa K, Bellanger SA, van Binsbergen E, van den Boogaard MJ, Brischoux-Boucher E, Caylor RC, Ciolfi A, van Essen TAJ, Fontana P, Hopman S, Iascone M, Javier MM, Kamsteeg EJ, Kerkhof J, Kido J, Kim HG, Kleefstra T, Lonardo F, Lai A, Lev D, Levy MA, Lewis MES, Lichty A, Mannens MMAM, Matsumoto N, Maya I, McConkey H, Megarbane A, Michaud V, Miele E, Niceta M, Novelli A, Onesimo R, Pfundt R, Popp B, Prijoles E, Relator R, Redon S, Rots D, Rouault K, Saida K, Schieving J, Tartaglia M, Tenconi R, Uguen K, Verbeek N, Walsh CA, Yosovich K, Yuskaitis CJ, Zampino G, Sadikovic B, Alders M, Oegema R. van Jaarsveld RH, et al. Among authors: van den boogaard mj. Genet Med. 2023 Jan;25(1):49-62. doi: 10.1016/j.gim.2022.09.006. Epub 2022 Nov 1. Genet Med. 2023. PMID: 36322151 Free PMC article.
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Ebstein F, Küry S, Most V, Rosenfelt C, Scott-Boyer MP, van Woerden GM, Besnard T, Papendorf JJ, Studencka-Turski M, Wang T, Hsieh TC, Golnik R, Baldridge D, Forster C, de Konink C, Teurlings SMW, Vignard V, van Jaarsveld RH, Ades L, Cogné B, Mignot C, Deb W, Jongmans MCJ, Cole FS, van den Boogaard MH, Wambach JA, Wegner DJ, Yang S, Hannig V, Brault JA, Zadeh N, Bennetts B, Keren B, Gélineau AC, Powis Z, Towne M, Bachman K, Seeley A, Beck AE, Morrison J, Westman R, Averill K, Brunet T, Haasters J, Carter MT, Osmond M, Wheeler PG, Forzano F, Mohammed S, Trakadis Y, Accogli A, Harrison R, Guo Y, Hakonarson H, Rondeau S, Baujat G, Barcia G, Feichtinger RG, Mayr JA, Preisel M, Laumonnier F, Kallinich T, Knaus A, Isidor B, Krawitz P, Völker U, Hammer E, Droit A, Eichler EE, Elgersma Y, Hildebrand PW, Bolduc F, Krüger E, Bézieau S. Ebstein F, et al. Sci Transl Med. 2023 May 31;15(698):eabo3189. doi: 10.1126/scitranslmed.abo3189. Epub 2023 May 31. Sci Transl Med. 2023. PMID: 37256937 Free PMC article.
The ontogeny of Robin sequence.
Logjes RJH, Breugem CC, Van Haaften G, Paes EC, Sperber GH, van den Boogaard MH, Farlie PG. Logjes RJH, et al. Am J Med Genet A. 2018 Jun;176(6):1349-1368. doi: 10.1002/ajmg.a.38718. Epub 2018 Apr 25. Am J Med Genet A. 2018. PMID: 29696787 Review.
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Płoski R, Pienkowski VM, Kłosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Adès L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D; Undiagnosed Diseases Network; van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P. Koop K, et al. Among authors: van den boogaard mj. Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130. Hum Mol Genet. 2023. PMID: 37552066 Free PMC article.
Phenotype and genotype in Nicolaides-Baraitser syndrome.
Sousa SB, Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium. Sousa SB, et al. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):302-14. doi: 10.1002/ajmg.c.31409. Epub 2014 Aug 28. Am J Med Genet C Semin Med Genet. 2014. PMID: 25169058 Review.
Genetic outcomes in children with developmental language disorder: a systematic review.
van Wijngaarden V, de Wilde H, Mink van der Molen D, Petter J, Stegeman I, Gerrits E, Smit AL, van den Boogaard MJ. van Wijngaarden V, et al. Among authors: van den boogaard mj. Front Pediatr. 2024 Jan 17;12:1315229. doi: 10.3389/fped.2024.1315229. eCollection 2024. Front Pediatr. 2024. PMID: 38298611 Free PMC article. Review.
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.
Janssen BDE, van den Boogaard MH, Lichtenbelt K, Seaby EG, Stals K, Ellard S, Newbury-Ecob R, Dixit A, Roht L, Pajusalu S, Õunap K, Firth HV, Buckley M, Wilson M, Roscioli T, Tidwell T, Mao R, Ennis S, Holwerda SJ, van Gassen K, van Jaarsveld RH. Janssen BDE, et al. Hum Mutat. 2022 Dec;43(12):1844-1851. doi: 10.1002/humu.24444. Epub 2022 Aug 10. Hum Mutat. 2022. PMID: 35904126 Free PMC article.
49 results