Suleiman, Jehan;Riedhammer, Korbinian M;Jicinsky, Timothy;Mundt, Melinda;Werner, Laurie;Gusic, Mirjana;Burgemeister, Anna L;Alsaif, Hessa S;Abdulrahim, Maha;Moghrabi, Nabil N;Nicolas-Jilwan, Manal;AlSayed, Moeenaldeen;Bi, Weimin;Sampath, Srirangan;Alkuraya, Fowzan S;El-Hattab, Ayman W
Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.
Hum Mutat
2019
40
11
1985-1992

Zweier, Markus;Begemann, Anaïs;McWalter, Kirsty;Cho, Megan T;Abela, Lucia;Banka, Siddharth;Behring, Bettina;Berger, Andrea;Brown, Chester W;Carneiro, Maryline;Chen, Jiani;Cooper, Gregory M;Finnila, Candice R;Guillen Sacoto, Maria J;Henderson, Alex;Hüffmeier, Ulrike;Joset, Pascal;Kerr, Bronwyn;Lesca, Gaetan;Leszinski, Gloria S;McDermott, John Henry;Meltzer, Meira R;Monaghan, Kristin G;Mostafavi, Roya;Ounap, Katrin;Plecko, Barbara;Powis, Zöe;Purcarin, Gabriela;Reimand, Tiia;Riedhammer, Korbinian M;Schreiber, John M;Sirsi, Deepa;Wierenga, Klaas J;Wojcik, Monica H;Papuc, Sorina M;Steindl, Katharina;Sticht, Heinrich;Rauch, Anita
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.
Eur J Hum Genet
2019
27
5
747-759

Lorenz, Georg;Hettwer, Stefan;McCallum, Wendy;Angermann, Susanne;Wen, Ming;Schmaderer, Christoph;Heemann, Uwe;Roos, Marcel;Renders, Lutz;Steubl, Dominik
Plasma C-terminal agrin fragment and rapid kidney function decline in chronic kidney disease patients.
Medicine (Baltimore)
2019
98
19

Matschkal, Julia;Mayer, Christopher C;Sarafidis, Pantelis A;Lorenz, Georg;Braunisch, Matthias C;Guenthner, Roman;Angermann, Susanne;Steubl, Dominik;Kemmner, Stephan;Bachmann, Quirin;Hauser, Christine;Nerl, Louisa;Baumann, Marcus;Mann, Johannes F;Moog, Philipp;Kuechle, Claudius;Renders, Lutz;Heemann, Uwe;Wassertheurer, Siegfried;Schmaderer, Christoph
Comparison of 24-hour and Office Pulse Wave Velocity for Prediction of Mortality in Hemodialysis Patients.
Am J Nephrol
2019
49
4
317-327

Kemmner, Stephan;Bachmann, Quirin;Steiger, Stefanie;Lorenz, Georg;Honarpisheh, Mohsen;Foresto-Neto, Orestes;Wang, Shijun;Carbajo-Lozoya, Javier;Alt, Verena;Schulte, Christian;Chmielewski, Stefan;Bluyssen, Hans A R;Heemann, Uwe;Baumann, Marcus;Lech, Maciej;Schmaderer, Christoph
STAT1 regulates macrophage number and phenotype and prevents renal fibrosis after ischemia-reperfusion injury.
Am J Physiol Renal Physiol
2019
316
2
F277-F291

Lorenz, Georg;Moschovaki-Filippidou, Foteini;Würf, Vivian;Metzger, Philipp;Steiger, Stefanie;Batz, Falk;Carbajo-Lozoya, Javier;Koziel, Joanna;Schnurr, Max;Cohen, Clemens D;Schmaderer, Christoph;Anders, Hans-Joachim;Lindenmeyer, Maja;Lech, Maciej
IFN Regulatory Factor 4 Controls Post-ischemic Inflammation and Prevents Chronic Kidney Disease.
Front Immunol
2019
10

Steubl, Dominik;Block, Matthias;Herbst, Victor;Nockher, Wolfgang Andreas;Schlumberger, Wolfgang;Kemmner, Stephan;Bachmann, Quirin;Angermann, Susanne;Wen, Ming;Heemann, Uwe;Renders, Lutz;Garimella, Pranav S;Scherberich, Jürgen
Urinary uromodulin independently predicts end-stage renal disease and rapid kidney function decline in a cohort of chronic kidney disease patients.
Medicine (Baltimore)
2019
98
21

Macheroux, Eva Pauline;Braunisch, Matthias C;Pucci Pegler, Stephanie;Satanovskij, Robin;Riedhammer, Korbinian M;Günthner, Roman;Gross, Oliver;Nagel, Mato;Renders, Lutz;Hoefele, Julia
The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome.
Front Pediatr
2019
7

Bañares, Rafael;Ibáñez-Samaniego, Luis;Torner, Josep María;Pavesi, Marco;Olmedo, Carmen;Catalina, María Vega;Albillos, Agustín;Larsen, Fin Stolze;Nevens, Frederik;Hassanein, Tarek;Schmidt, Harmuth;Heeman, Uwe;Jalan, Rajiv;Moreau, Richard;Arroyo, Vicente
Meta-analysis of individual patient data of albumin dialysis in acute-on-chronic liver failure: focus on treatment intensity.
Therap Adv Gastroenterol
2019
12

Maggiore, Umberto;Abramowicz, Daniel;Budde, Klemens;Crespo, Marta;Mariat, Christophe;Oberbauer, Rainer;Pascual, Julio;Peruzzi, Licia;Schwartz Sorensen, Soren;Viklicky, Ondrej;Watschinger, Bruno;Oniscu, Gabriel C;Heemann, Uwe;Hilbrands, Luuk B
Standard work-up of the low-risk kidney transplant candidate: a European expert survey of the ERA-EDTA Developing Education Science and Care for Renal Transplantation in European States Working Group.
Nephrol Dial Transplant
2019
34
9
1605-1611