Hughes, Joel J;Alkhunaizi, Ebba;Kruszka, Paul;Pyle, Louise C;Grange, Dorothy K;Berger, Seth I;Payne, Katelyn K;Masser-Frye, Diane;Hu, Tommy;Christie, Michelle R;Clegg, Nancy J;Everson, Joshua L;Martinez, Ariel F;Walsh, Laurence E;Bedoukian, Emma;Jones, Marilyn C;Harris, Catharine Jean;Riedhammer, Korbinian M;Choukair, Daniela;Fechner, Patricia Y;Rutter, Meilan M;Hufnagel, Sophia B;Roifman, Maian;Kletter, Gad B;Delot, Emmanuele;Vilain, Eric;Lipinski, Robert J;Vezina, Chad M;Muenke, Maximilian;Chitayat, David
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.
Am J Hum Genet
2020
106
1
121-128

Riedhammer, K. M.;Nguyen, M.;Alhaddad, B.;Arnold, S. J.;Kim, G. J.;Heemann, U.;Schmidts, M.;Hoefele, J.
Implication of FOXD2 in autosomal recessive syndromic CAKUT
Eur J Hum Genet
2020
28 Suppl 1
SUPPL 1
75-75

Schneider, Ronen;Deutsch, Konstantin;Hoeprich, Gregory J;Marquez, Jonathan;Hermle, Tobias;Braun, Daniela A;Seltzsam, Steve;Kitzler, Thomas M;Mao, Youying;Buerger, Florian;Majmundar, Amar J;Onuchic-Whitford, Ana C;Kolvenbach, Caroline M;Schierbaum, Luca;Schneider, Sophia;Halawi, Abdul A;Nakayama, Makiko;Mann, Nina;Connaughton, Dervla M;Klämbt, Verena;Wagner, Matias;Riedhammer, Korbinian M;Renders, Lutz;Katsura, Yoshichika;Thumkeo, Dean;Soliman, Neveen A;Mane, Shrikant;Lifton, Richard P;Shril, Shirlee;Khokha, Mustafa K;Hoefele, Julia;Goode, Bruce L;Hildebrandt, Friedhelm
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.
Am J Hum Genet
2020
107
6
1113-1128

Murck, Harald;Lehr, Lisa;Hahn, Johannes;Braunisch, Matthias C;Jezova, Daniela;Zavorotnyy, Maxim
Adjunct Therapy With Glycyrrhiza Glabra Rapidly Improves Outcome in Depression-A Pilot Study to Support 11-Beta-Hydroxysteroid Dehydrogenase Type 2 Inhibition as a New Target.
Front Psychiatry
2020
11

Riedhammer, Korbinian M;Braunisch, Matthias C;Günthner, Roman;Wagner, Matias;Hemmer, Clara;Strom, Tim M;Schmaderer, Christoph;Renders, Lutz;Tasic, Velibor;Gucev, Zoran;Nushi-Stavileci, Valbona;Putnik, Jovana;Stajić, Nataša;Weidenbusch, Marc;Uetz, Barbara;Montoya, Carmen;Strotmann, Peter;Ponsel, Sabine;Lange-Sperandio, Baerbel;Hoefele, Julia
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies.
Am J Kidney Dis
2020
76
4
460-470

Moschovaki-Filippidou, Foteini;Steiger, Stefanie;Lorenz, Georg;Schmaderer, Christoph;Ribeiro, Andrea;von Rauchhaupt, Ekaterina;Cohen, Clemens D;Anders, Hans-Joachim;Lindenmeyer, Maja;Lech, Maciej
Growth Differentiation Factor 15 Ameliorates Anti-Glomerular Basement Membrane Glomerulonephritis in Mice.
Int J Mol Sci
2020
21
19

Bryant, Laura;Li, Dong;Cox, Samuel G;Marchione, Dylan;Joiner, Evan F;Wilson, Khadija;Janssen, Kevin;Lee, Pearl;March, Michael E;Nair, Divya;Sherr, Elliott;Fregeau, Brieana;Wierenga, Klaas J;Wadley, Alexandrea;Mancini, Grazia M S;Powell-Hamilton, Nina;van de Kamp, Jiddeke;Grebe, Theresa;Dean, John;Ross, Alison;Crawford, Heather P;Powis, Zoe;Cho, Megan T;Willing, Marcia C;Manwaring, Linda;Schot, Rachel;Nava, Caroline;Afenjar, Alexandra;Lessel, Davor;Wagner, Matias;Klopstock, Thomas;Winkelmann, Juliane;Catarino, Claudia B;Retterer, Kyle;Schuette, Jane L;Innis, Jeffrey W;Pizzino, Amy;Lüttgen, Sabine;Denecke, Jonas;Strom, Tim M;Monaghan, Kristin G;Yuan, Zuo-Fei;Dubbs, Holly;Bend, Renee;Lee, Jennifer A;Lyons, Michael J;Hoefele, Julia;Günthner, Roman;Reutter, Heiko;Keren, Boris;Radtke, Kelly;Sherbini, Omar;Mrokse, Cameron;Helbig, Katherine L;Odent, Sylvie;Cogne, Benjamin;Mercier, Sandra;Bezieau, Stephane;Besnard, Thomas;Kury, Sebastien;Redon, Richard;Reinson, Karit;Wojcik, Monica H;Õunap, Katrin;Ilves, Pilvi;Innes, A Micheil;Kernohan, Kristin D;Costain, Gregory;Meyn, M Stephen;Chitayat, David;Zackai, Elaine;Lehman, Anna;Kitson, Hilary;Martin, Martin G;Martinez-Agosto, Julian A;Nelson, Stan F;Palmer, Christina G S;Papp, Jeanette C;Parker, Neil H;Sinsheimer, Janet S;Vilain, Eric;Wan, Jijun;Yoon, Amanda J;Zheng, Allison;Brimble, Elise;Ferrero, Giovanni Battista;Radio, Francesca Clementina;Carli, Diana;Barresi, Sabina;Brusco, Alfredo;Tartaglia, Marco;Thomas, Jennifer Muncy;Umana, Luis;Weiss, Marjan M;Gotway, Garrett;Stuurman, K E;Thompson, Michelle L;McWalter, Kirsty;Stumpel, Constance T R M;Stevens, Servi J C;Stegmann, Alexander P A;Tveten, Kristian;Vøllo, Arve;Prescott, Trine;Fagerberg, Christina;Laulund, Lone Walentin;Larsen, Martin J;Byler, Melissa;Lebel, Robert Roger;Hurst, Anna C;Dean, Joy;Schrier Vergano, Samantha A;Norman, Jennifer;Mercimek-Andrews, Saadet;Neira, Juanita;Van Allen, Margot I;Longo, Nicola;Sellars, Elizabeth;Louie, Raymond J;Cathey, Sara S;Brokamp, Elly;Heron, Delphine;Snyder, Molly;Vanderver, Adeline;Simon, Celeste;de la Cruz, Xavier;Padilla, Natália;Crump, J Gage;Chung, Wendy;Garcia, Benjamin;Hakonarson, Hakon H;Bhoj, Elizabeth J
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Sci Adv
2020
6
49

Radelfahr, Florentine;Riedhammer, Korbinian M;Keidel, Leonie F;Gramer, Gwendolyn;Meitinger, Thomas;Klopstock, Thomas;Wagner, Matias
Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis.
Neurol Genet
2020
6
6

Heemann, Uwe;Oberbauer, Rainer;Sprangers, Ben;Gökalp, Cenk;Bemelman, Frederike
Deceased donor kidney allocation schemes and international exchange.
Curr Opin Organ Transplant
2020
25
1
66-73

Fan, Li;Steubl, Dominik;Inker, Lesley A;Tighiouart, Hocine;Simon, Andrew L;Foster, Meredith C;Karger, Amy B;Eckfeldt, John H;Li, Hongyan;Tang, Jiamin;He, Yongcheng;Xie, Minyan;Xiong, Fei;Li, Hongbo;Zhang, Hao;Hu, Jing;Liao, Yunhua;Ye, Xudong;Shafi, Tariq;Chen, Wei;Yu, Xueqing;Levey, Andrew S
Estimating total small solute clearance in patients treated with continuous ambulatory peritoneal dialysis without urine and dialysate collection.
Perit Dial Int
2020
40
1
84-92