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Page 1
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Erger F, Aryal RP, Reusch B, Matsumoto Y, Meyer R, Zeng J, Knopp C, Noel M, Muerner L, Wenzel A, Kohl S, Tschernoster N, Rappl G, Rouvet I, Schröder-Braunstein J, Seibert FS, Thiele H, Häusler MG, Weber LT, Büttner-Herold M, Elbracht M, Cummings SF, Altmüller J, Habbig S, Cummings RD, Beck BB. Erger F, et al. Proc Natl Acad Sci U S A. 2023 May 30;120(22):e2211087120. doi: 10.1073/pnas.2211087120. Epub 2023 May 22. Proc Natl Acad Sci U S A. 2023. PMID: 37216524 Free PMC article.
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F. Velmans C, et al. Among authors: erger f. J Med Genet. 2022 Jul;59(7):697-705. doi: 10.1136/jmedgenet-2020-107470. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321323 Free PMC article.
The adult phenotype of Schaaf-Yang syndrome.
Marbach F, Elgizouli M, Rech M, Beygo J, Erger F, Velmans C, Stumpel CTRM, Stegmann APA, Beck-Wödl S, Gillessen-Kaesbach G, Horsthemke B, Schaaf CP, Kuechler A. Marbach F, et al. Among authors: erger f. Orphanet J Rare Dis. 2020 Oct 19;15(1):294. doi: 10.1186/s13023-020-01557-8. Orphanet J Rare Dis. 2020. PMID: 33076953 Free PMC article.
Expanding the Spectrum of FAT1 Nephropathies by Novel Mutations That Affect Hippo Signaling.
Fabretti F, Tschernoster N, Erger F, Hedergott A, Buescher AK, Dafinger C, Reusch B, Köntges VK, Kohl S, Bartram MP, Weber LT, Thiele H, Altmueller J, Schermer B, Beck BB, Habbig S. Fabretti F, et al. Among authors: erger f. Kidney Int Rep. 2021 Jan 29;6(5):1368-1378. doi: 10.1016/j.ekir.2021.01.023. eCollection 2021 May. Kidney Int Rep. 2021. PMID: 34013115 Free PMC article.
Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing.
Tschernoster N, Erger F, Walsh PR, McNicholas B, Fistrek M, Habbig S, Schumacher AL, Folz-Donahue K, Kukat C, Toliat MR, Becker C, Thiele H, Kavanagh D, Nürnberg P, Beck BB, Altmüller J. Tschernoster N, et al. Among authors: erger f. J Mol Diagn. 2022 Jun;24(6):619-631. doi: 10.1016/j.jmoldx.2022.02.006. Epub 2022 Apr 8. J Mol Diagn. 2022. PMID: 35398599 Free article.
29 results