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Year Number of Results
2003 1
2004 3
2006 1
2007 1
2009 1
2010 1
2012 6
2013 3
2014 7
2015 9
2016 9
2017 8
2018 11
2019 11
2020 7
2021 9
2022 4
2023 10
2024 2

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90 results

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Page 1
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Efthymiou S, Scala M, Nagaraj V, Ochenkowska K, Komdeur FL, Liang RA, Abdel-Hamid MS, Sultan T, Barøy T, Van Ghelue M, Vona B, Maroofian R, Zafar F, Alkuraya FS, Zaki MS, Severino M, Duru KC, Tryon RC, Brauteset LV, Ansari M, Hamilton M, van Haelst MM, van Haaften G, Zara F, Houlden H, Samarut É, Nichols CG, Smeland MF, McClenaghan C. Efthymiou S, et al. Among authors: van haaften g. Brain. 2024 May 3;147(5):1822-1836. doi: 10.1093/brain/awae010. Brain. 2024. PMID: 38217872 Free PMC article.
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez … See abstract for full author list ➔ Li D, et al. Among authors: van haaften g. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
ABL-class Genomic Breakpoint Q-PCR: A Patient-specific Approach for MRD Monitoring in Acute Lymphoblastic Leukemia.
van Outersterp I, van der Velden VHJ, Hoogeveen PG, Vaitkevičienė GE, Sonneveld E, van Haaften G, Kuiper RP, Zur Stadt U, Escherich G, Boer JM, den Boer ML. van Outersterp I, et al. Among authors: van haaften g. Hemasphere. 2023 Sep 19;7(10):e967. doi: 10.1097/HS9.0000000000000967. eCollection 2023 Oct. Hemasphere. 2023. PMID: 37736661 Free PMC article. No abstract available.
Identification of candidate genes for developmental colour agnosia in a single unique family.
Nijboer TCW, Hessel EVS, van Haaften GW, van Zandvoort MJ, van der Spek PJ, Troelstra C, de Kovel CGF, Koeleman BPC, van der Zwaag B, Brilstra EH, Burbach JPH. Nijboer TCW, et al. Among authors: van haaften gw. PLoS One. 2023 Sep 6;18(9):e0290013. doi: 10.1371/journal.pone.0290013. eCollection 2023. PLoS One. 2023. PMID: 37672513 Free PMC article.
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Claus LR, Chen C, Stallworth J, Turner JL, Slaats GG, Hawks AL, Mabillard H, Senum SR, Srikanth S, Flanagan-Steet H, Louie RJ, Silver J, Lerner-Ellis J, Morel C, Mighton C, Sleutels F, van Slegtenhorst M, van Ham T, Brooks AS, Dorresteijn EM, Barakat TS, Dahan K, Demoulin N, Goffin EJ, Olinger E; Genomics England Research Consortium; Larsen M, Hertz JM, Lilien MR, Obeidová L, Seeman T, Stone HK, Kerecuk L, Gurgu M, Yousef Yengej FA, Ammerlaan CME, Rookmaaker MB, Hanna C, Rogers RC, Duran K, Peters E, Sayer JA, van Haaften G, Harris PC, Ling K, Mason JM, van Eerde AM, Steet R. Claus LR, et al. Among authors: van haaften g. Kidney Int. 2023 Nov;104(5):995-1007. doi: 10.1016/j.kint.2023.07.021. Epub 2023 Aug 19. Kidney Int. 2023. PMID: 37598857
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 haaften g. Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130. Hum Mol Genet. 2023. PMID: 37552066 Free PMC article.
WEE1 inhibitor adavosertib in combination with carboplatin in advanced TP53 mutated ovarian cancer: A biomarker-enriched phase II study.
Embaby A, Kutzera J, Geenen JJ, Pluim D, Hofland I, Sanders J, Lopez-Yurda M, Beijnen JH, Huitema ADR, Witteveen PO, Steeghs N, van Haaften G, van Vugt MATM, de Ridder J, Opdam FL. Embaby A, et al. Among authors: van haaften g. Gynecol Oncol. 2023 Jul;174:239-246. doi: 10.1016/j.ygyno.2023.05.063. Epub 2023 May 24. Gynecol Oncol. 2023. PMID: 37236033 Clinical Trial.
Histones: coming of age in Mendelian genetic disorders.
Knapp K, Naik N, Ray S, van Haaften G, Bicknell LS. Knapp K, et al. Among authors: van haaften g. J Med Genet. 2023 Mar;60(3):213-222. doi: 10.1136/jmg-2022-109085. Epub 2023 Jan 23. J Med Genet. 2023. PMID: 36690428 Review.
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.
Muffels IJJ, Schene IF, Rehmann H, Massink MPG, van der Wal MM, Bauder C, Labeur M, Armando NG, Lequin MH, Houben ML, Giltay JC, Haitjema S, Huisman A, Vansenne F, Bluvstein J, Pappas J, Shailee LV, Zarate YA, Mokry M, van Haaften GW, Nieuwenhuis EES, Refojo D, van Wijk F, Fuchs SA, van Hasselt PM. Muffels IJJ, et al. Among authors: van haaften gw. Am J Hum Genet. 2023 Jan 5;110(1):146-160. doi: 10.1016/j.ajhg.2022.12.003. Am J Hum Genet. 2023. PMID: 36608681 Free PMC article.
90 results