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Publikationen

Publikationen 2024

  • Stamellou E, Nadal J, Hendry B, Mercer A, Bechtel-Walz W, Schiffer M, Eckardt KU, Kramann R, Moeller MJ, Floege J, GCKD study investigators , Eckardt KU, Meiselbach H, Schneider MP, Schiffer M, Prokosch HU, Bärthlein B, Beck A, Reis A, Ekici AB, Becker S, Alberth-Schmidt U, Marschall S, Weigel A, Walz G, Köttgen A, Schultheiß UT, Kotsis F, Meder S, Mitsch E, Reinhard U, Floege J, Saritas T, Schaeffner E, Baid-Agrawal S, Theisen K, Schmidt-Ott K, Zeier M, Sommerer C, Aykac M, Wolf G, Busch M, Steiner A, Sitter T, Wanner C, Krane V, Bauer B, Kronenberg F, Raschenberger J, Kollerits B, Forer L, Schönherr S, Weissensteiner H, Oefner P, Gronwald W, Schmid M, Nadal J:(2024)Long-term outcomes of adults with FSGS in the German Chronic Kidney Disease cohort.Clin Kidney J. 2024;17(7):
  • Furia F, Levy AM, Theunis M, Bamshad MJ, Bartos MN, Bijlsma EK, Brancati F, Cejudo L, Chong JX, De Luca C, Dean SJ, Egense A, Goel H, Guenzel AJ, Hüffmeier U, Legius E, Mancini GMS, Marcos-Alcalde I, Niclass T, Planes M, Redon S, Ros-Pardo D, Rouault K, Schot R, Schuhmann S, Shen JJ, Tao AM, Thiffault I, Van Esch H, Wentzensen IM, Barakat TS, Møller RS, Gomez-Puertas P, Chung WK, Gardella E, Tümer Z:(2024)The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.Clin Genet. 2024;106(5): 574-584
  • Al-Kateb H, Au PYB, Berland S, Cogne B, Demurger F, Fluss J, Isidor B, Frank LM, Varvagiannis K, Koolen DA, McDonald M, Montgomery S, Moortgat S, Deprez M, Karadurmus D, Paulsen J, Reis A, Rieger M, Vasileiou G, Willing M, Shinawi M:(2024)CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.Clin Genet. 2024;105(3): 294-301
  • Stamellou E, Nadal J, Hendry B, Mercer A, Seikrit C, Bechtel-Walz W, Schmid M, Moeller MJ, Schiffer M, Eckardt KU, Kramann R, Floege J, GCKD study investigators , Eckardt KU, Meiselbach H, Schneider MP, Schiffer M, Prokosch HU, Bärthlein B, Beck A, Reis A, Ekici AB, Becker S, Alberth-Schmidt U, Marschall S, Weigel A, Walz G, Köttgen A, Schultheiß UT, Kotsis F, Meder S, Mitsch E, Reinhard U, Floege J, Saritas T, Schaeffner E, Baid-Agrawal S, Theisen K, Schmidt-Ott K, Zeier M, Sommerer C, Aykac M, Wolf G, Busch M, Steiner A, Sitter T, Wanner C, Krane V, Bauer B, Kronenberg F, Raschenberger J, Kollerits B, Forer L, Schönherr S, Weissensteiner H, Oefner P, Gronwald W, Schmid M, Nadal J:(2024)Long-term outcomes of patients with IgA nephropathy in the German CKD cohort.Clin Kidney J. 2024;17(8):
  • Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, Angireddy R, Wang XM, Weiss E, Toutain A, Mendoza-Londono R, Dupuis L, Damseh N, Velasco D, Valenzuela I, Codina-Solà M, Ziats C, Have J, Clarkson K, Steel D, Kurian M, Barwick K, Carrasco D, Dagli AI, Nowaczyk MJM, Hančárová M, Bendová Š, Prchalova D, Sedláček Z, Baxová A, Nowak CB, Douglas J, Chung WK, Longo N, Platzer K, Klöckner C, Averdunk L, Wieczorek D, Krey I, Zweier C, Reis A, Balci T, Simon M, Kroes HY, Wiesener A, Vasileiou G, Marinakis NM, Veltra D, Sofocleous C, Kosma K, Synodinos JT, Voudris KA, Vuillaume ML, Gueguen P, Derive N, Colin E, Battault C, Au B, Delatycki M, Wallis M, Gallacher L, Majdoub F, Smal N, Weckhuysen S, Schoonjans AS, Kooy RF, Meuwissen M, Cocanougher BT, Taylor K, Pizoli CE, McDonald MT, James P, Roeder ER, Littlejohn R, Borja NA, Thorson W, King K, Stoeva R, Suerink M, Nibbeling E, Baskin S, Guyader GLE, Kaplan J, Muss C, Carere DA, Bhoj EJK, Bryant LM:(2024)Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.Eur J Hum Genet. 2024;32(8):
  • Kassabian B, Levy AM, Gardella E, Aledo-Serrano A, Ananth AL, Brea-Fernández AJ, Caumes R, Chatron N, Dainelli A, De Wachter M, Denommé-Pichon AS, Dye TJ, Fazzi E, Felt R, Fernández-Jaén A, Fernández-Prieto M, Gantz E, Gasperowicz P, Gil-Nagel A, Gómez-Andrés D, Greiner HM, Guerrini R, Haanpää MK, Helin M, Hoyer J, Hurst ACE, Kallish S, Karkare SN, Khan A, Kleinendorst L, Koch J, Kothare SV, Koudijs SV, Lagae L, Lakeman P, Leppig KA, Lesca G, Lopergolo D, Lusk L, Mackenzie A, Mei D, Møller RS, Pereira EM, Platzer K, Quelin C, Revah-Politi A, Rheims S, Rodríguez-Palmero A, Rossi A, Santorelli F, Seinfeld S, Sell E, Stephenson D, Szczaluba K, Trinka E, Umair M, Van Esch H, van Haelst MM, Veenma DCM, Weber S, Weckhuysen S, Zacher P, Tümer Z, Rubboli G:(2024)Developmental epileptic encephalopathy in DLG4-related synaptopathy.Epilepsia. 2024;65(4): 1029-1045
  • Baumann A, Ruckert C, Meier C, Hutschenreiter T, Remy R, Schnur B, Döbel M, Fankep RCN, Skowronek D, Kutz O, Arnold N, Katzke AL, Forster M, Kobiela AL, Thiedig K, Zimmer A, Ritter J, Weber BHF, Honisch E, Hackmann K, Bioinformatics Working Group of the German Consortium for Hereditary Breast & Ovarian Cancer , Schmidt G, Sturm M, Ernst C, Drukewitz S, Engel C, Frommolt P, Groß E, Helmuth J, Kowalzyk Z, Radtke M, Ramser J, Uebe S, Wang-Gohrke S:(2024)Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci.Eur J Hum Genet. 2024;32(8): 987-997
  • Pauly M, Krumbiegel M, Trumpp S, Braig S, Rupprecht T, Kraus C, Uebe S, Reis A, Vasileiou G:(2024)Severe manifestation of Rauch-Azzarello syndrome associated with biallelic deletion of CTNND2.Clin Genet. 2024;106(2): 180-186
  • Albuainain F, Shi Y, Lor-Zade S, Hüffmeier U, Pauly M, Reis A, Faivre L, Maraval J, Bruel AL, Them FTM, Haack TB, Grasshoff U, Horber V, Schot R, van Slegtenhorst M, Wilke M, Barakat TS:(2024)Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.Eur J Hum Genet. 2024;32(3): 350-356
  • Pauly M, Hüffmeier U, Schmitt-Haendle M:(2024)Clubbing of Fingers and Nails in Primary Hypertrophic Osteoarthropathy Type 1.Dtsch Arztebl Int. 2024;121(21):

Publikationen

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