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

Year Number of Results
2002 4
2003 1
2004 4
2005 1
2006 2
2007 4
2008 3
2010 4
2011 2
2012 5
2013 5
2014 4
2015 1
2016 4
2017 6
2018 2
2019 4
2020 5
2021 12
2022 7
2023 7
2024 7
2025 9
2026 5

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98 results

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Page 1
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tümer Z, Van Balkom IDC, Hennekam RC. Kline AD, et al. Among authors: wierzba j. Nat Rev Genet. 2018 Oct;19(10):649-666. doi: 10.1038/s41576-018-0031-0. Nat Rev Genet. 2018. PMID: 29995837 Free PMC article. Review.
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
Accogli A, Shakya S, Yang T, Insinna C, Kim SY, Bell D, Butov KR, Severino M, Niceta M, Scala M, Lee HS, Yoo T, Stauffer J, Zhao H, Fiorillo C, Pedemonte M, Diana MC, Baldassari S, Zakharova V, Shcherbina A, Rodina Y, Fagerberg C, Roos LS, Wierzba J, Dobosz A, Gerard A, Potocki L, Rosenfeld JA, Lalani SR, Scott TM, Scott D, Azamian MS, Louie R, Moore HW, Champaigne NL, Hollingsworth G, Torella A, Nigro V, Ploski R, Salpietro V, Zara F, Pizzi S, Chillemi G, Ognibene M, Cooney E, Do J, Linnemann A, Larsen MJ, Specht S, Walters KJ, Choi HJ, Choi M, Tartaglia M, Youkharibache P, Chae JH, Capra V, Park SG, Westlake CJ. Accogli A, et al. Among authors: wierzba j. Nat Commun. 2024 Jan 8;15(1):365. doi: 10.1038/s41467-023-44611-2. Nat Commun. 2024. PMID: 38191484 Free PMC article.
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.
Groeneweg S, van Geest FS, Martín M, Dias M, Frazer J, Medina-Gomez C, Sterenborg RBTM, Wang H, Dolcetta-Capuzzo A, de Rooij LJ, Teumer A, Abaci A, van den Akker ELT, Ambegaonkar GP, Armour CM, Bacos I, Bakhtiani P, Barca D, Bauer AJ, van den Berg SAA, van den Berge A, Bertini E, van Beynum IM, Brunetti-Pierri N, Brunner D, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, Chesover A, Christian P, Coenen-van der Spek J, de Coo IFM, Coutant R, Craiu D, Crock P, DeGoede C, Demir K, Dewey C, Dica A, Dimitri P, Dremmen MHG, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi L, George B, Gevers EF, Greenup E, Hackenberg A, Halász Z, Heinrich B, Hurst AC, Huynh T, Isaza AR, Klosowska A, van der Knoop MM, Konrad D, Koolen DA, Krude H, Kulkarni A, Laemmle A, LaFranchi SH, Lawson-Yuen A, Lebl J, Leeuwenburgh S, Linder-Lucht M, López Martí A, Lorea CF, Lourenço CM, Lunsing RJ, Lyons G, Malikova JK, Mancilla EE, McCormick KL, McGowan A, Mericq V, Lora FM, Moran C, Muller KE, Nicol LE, Oliver-Petit I, Paone L, Paul PG, Polak M, Porta F, Poswar FO, Reinauer C, Rozenkova K, Seckold R, Seven Menevse T, Simm P, Simon A, Singh Y, Spada M, Stals MAM, Stegenga MT, Stoupa A, Subr… See abstract for full author list ➔ Groeneweg S, et al. Among authors: wierzba j. Nat Commun. 2025 Mar 12;16(1):2479. doi: 10.1038/s41467-025-56628-w. Nat Commun. 2025. PMID: 40075072 Free PMC article.
Clinical presentation of 13 children with alkaptonuria.
Kujawa MJ, Świętoń D, Wierzba J, Grzywińska M, Budziło O, Limanówka M, Pierzynowska K, Gaffke L, Grabowski Ł, Cyske Z, Rintz E, Rąbalski Ł, Kosiński M, Węgrzyn G, Mański A, Anikiej-Wiczenbach P, Ranganath L, Piskunowicz M. Kujawa MJ, et al. Among authors: wierzba j. J Inherit Metab Dis. 2023 Sep;46(5):916-930. doi: 10.1002/jimd.12647. Epub 2023 Jul 10. J Inherit Metab Dis. 2023. PMID: 37395296
NGS sequencing reveals the cause of hearing loss in a group of Polish patients with an isolated, non-DFNB1 hearing loss.
Niepokój K, Rygiel AM, Wertheim-Tysarowska K, Sawicka J, Dorożko B, Grabarczyk A, Obersztyn E, Kutkowska-Kaźmierczak A, Klapecki J, Barczyk A, Własienko P, Jurczak P, Lebiedzińska A, Śmigiel R, Jakubiak A, Wierzba J, Kaczorowska E, Pietrzyk A, Sorbaj-Sucharska G, Limon J, Bal J. Niepokój K, et al. Among authors: wierzba j. J Appl Genet. 2025 Aug 13. doi: 10.1007/s13353-025-00991-3. Online ahead of print. J Appl Genet. 2025. PMID: 40796707
Down syndrome, increased risk of dementia and lipid disturbances.
Kłosowska A, Ćwiklińska A, Kuchta A, Berlińska A, Jankowski M, Wierzba J. Kłosowska A, et al. Among authors: wierzba j. Dev Period Med. 2017;21(1):69-73. doi: 10.34763/devperiodmed.20172101.6973. Dev Period Med. 2017. PMID: 28551695 Free PMC article. Review.
Transition From Children's to Adults' Healthcare for Youth With (Genetic) Intellectual Disabilities: An ERN-ITHACA Guideline.
Klein Haneveld MJ, Świeczkowska K, Grybek T, Labunets K, van Amelsvoort TAMJ, Bedeschi MF, Behan C, Dufke A, Dupont J, Gaasterland CMW, Garavelli L, Helverschou SB, McAnallen S, Milska-Musa KA, van Staa A, Streață I, Stumpel CTRM, Tamburrino F, Vasseghi M, Vyshka K, Wierzba JM; ERN‐ITHACA Guideline Working Group; van Eeghen AM. Klein Haneveld MJ, et al. Among authors: wierzba jm. J Intellect Disabil Res. 2026 Jan;70(1):29-47. doi: 10.1111/jir.70049. Epub 2025 Oct 20. J Intellect Disabil Res. 2026. PMID: 41115693 Free PMC article.
98 results