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PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J, Nishimura G, Rustad CF, Abrahamsen TG, Rønnestad A, Osnes LT, Egeland T, Rødningen OK, Beck CR; Baylor-Johns Hopkins Center for Mendelian Genomics; Boerwinkle EA, Gibbs RA, Lupski JR, Orange JS, Lausch E, Hanson IC. Stray-Pedersen A, et al. Among authors: wlodarski mw. Am J Hum Genet. 2014 Jul 3;95(1):96-107. doi: 10.1016/j.ajhg.2014.05.007. Epub 2014 Jun 12. Am J Hum Genet. 2014. PMID: 24931394 Free PMC article.
Clinical and Molecular Heterogeneity of RTEL1 Deficiency.
Speckmann C, Sahoo SS, Rizzi M, Hirabayashi S, Karow A, Serwas NK, Hoemberg M, Damatova N, Schindler D, Vannier JB, Boulton SJ, Pannicke U, Göhring G, Thomay K, Verdu-Amoros JJ, Hauch H, Woessmann W, Escherich G, Laack E, Rindle L, Seidl M, Rensing-Ehl A, Lausch E, Jandrasits C, Strahm B, Schwarz K, Ehl SR, Niemeyer C, Boztug K, Wlodarski MW. Speckmann C, et al. Among authors: wlodarski mw. Front Immunol. 2017 May 1;8:449. doi: 10.3389/fimmu.2017.00449. eCollection 2017. Front Immunol. 2017. PMID: 28507545 Free PMC article.
A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism.
Paolini NA, Attwood M, Sondalle SB, Vieira CMDS, van Adrichem AM, di Summa FM, O'Donohue MF, Gleizes PE, Rachuri S, Briggs JW, Fischer R, Ratcliffe PJ, Wlodarski MW, Houtkooper RH, von Lindern M, Kuijpers TW, Dinman JD, Baserga SJ, Cockman ME, MacInnes AW. Paolini NA, et al. Among authors: wlodarski mw. Am J Hum Genet. 2017 Mar 2;100(3):506-522. doi: 10.1016/j.ajhg.2017.01.034. Am J Hum Genet. 2017. PMID: 28257692 Free PMC article.
Corrigendum: Clinical and Molecular Heterogeneity of RTEL1 Deficiency.
Speckmann C, Sahoo SS, Rizzi M, Hirabayashi S, Karow A, Serwas NK, Hoemberg M, Damatova N, Schindler D, Vannier JB, Boulton SJ, Pannicke U, Göhring G, Thomay K, Verdu-Amoros JJ, Hauch H, Woessmann W, Escherich G, Laack E, Rindle L, Seidl M, Rensing-Ehl A, Lausch E, Jandrasits C, Strahm B, Schwarz K, Ehl SR, Niemeyer C, Boztug K, Wlodarski MW. Speckmann C, et al. Among authors: wlodarski mw. Front Immunol. 2017 Oct 2;8:1250. doi: 10.3389/fimmu.2017.01250. eCollection 2017. Front Immunol. 2017. PMID: 28989339 Free PMC article.
HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.
Duijkers FA, McDonald A, Janssens GE, Lezzerini M, Jongejan A, van Koningsbruggen S, Leeuwenburgh-Pronk WG, Wlodarski MW, Moutton S, Tran-Mau-Them F, Thauvin-Robinet C, Faivre L, Monaghan KG, Smol T, Boute-Benejean O, Ladda RL, Sell SL, Bruel AL, Houtkooper RH, MacInnes AW. Duijkers FA, et al. Among authors: wlodarski mw. Am J Hum Genet. 2019 Jun 6;104(6):1040-1059. doi: 10.1016/j.ajhg.2019.03.024. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079900 Free PMC article.
Somatic mosaicism in inherited bone marrow failure syndromes.
Gutierrez-Rodrigues F, Sahoo SS, Wlodarski MW, Young NS. Gutierrez-Rodrigues F, et al. Among authors: wlodarski mw. Best Pract Res Clin Haematol. 2021 Jun;34(2):101279. doi: 10.1016/j.beha.2021.101279. Epub 2021 Jun 27. Best Pract Res Clin Haematol. 2021. PMID: 34404533 Free PMC article. Review.
Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.
Pastor VB, Sahoo SS, Boklan J, Schwabe GC, Saribeyoglu E, Strahm B, Lebrecht D, Voss M, Bryceson YT, Erlacher M, Ehninger G, Niewisch M, Schlegelberger B, Baumann I, Achermann JC, Shimamura A, Hochrein J, Tedgård U, Nilsson L, Hasle H, Boerries M, Busch H, Niemeyer CM, Wlodarski MW. Pastor VB, et al. Among authors: wlodarski mw. Haematologica. 2018 Mar;103(3):427-437. doi: 10.3324/haematol.2017.180778. Epub 2017 Dec 7. Haematologica. 2018. PMID: 29217778 Free PMC article. Clinical Trial.
Heterogeneity of GATA2-related myeloid neoplasms.
Hirabayashi S, Wlodarski MW, Kozyra E, Niemeyer CM. Hirabayashi S, et al. Among authors: wlodarski mw. Int J Hematol. 2017 Aug;106(2):175-182. doi: 10.1007/s12185-017-2285-2. Epub 2017 Jun 22. Int J Hematol. 2017. PMID: 28643018 Review.
86 results