Kálmán Tory (Kalman Tory)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 6

Top Venues

Human mutation

Proceedings of the National Academy of Sciences of the United States of America

Nature metabolism

Pediatric nephrology (Berlin, Germany)

Semmelweis University, Hungarian Academy of Sciences

Semmelweis University (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Semmelweis University, Hungarian Academy of Sciences Jul 01 2015

Hungary

clinical geneticist, pediatrician, researcher :: Ist Department of Pediatrics, MTA-SE Lendulet Nephrogenetic Laboratory

INSERM Feb 01 2013 - Jan 31 2015

France

researcher :: Laboratory of Hereditary Kidney Disorders

Education History

Semmelweis University Oct 01 1999 - Sep 30 2001

Hungary

PHD :: School of PhD studies

Semmelweis University Sep 01 1993 - Sep 30 1999

Hungary

PHD

Publications

Kálmán Tory
The dominant findings of a recessive man: from Mendel's kid pea to kidney. Pediatric nephrology (Berlin, Germany) (2023)
Flora Szeri, Agnes Miko, Nastassia Navasiolava, Ambrus Kaposi, Shana Verschuere, Beatrix Molnar, Qiaoli Li, Sharon F Terry, Federica Boraldi, Jouni Uitto, Koen van de Wetering, Ludovic Martin, Daniela Quaglino, Olivier M Vanakker, Kálmán Tory, Tamás Arányi
The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals. Human mutation (2022)
Ágnes Mikó, Ambrus Kaposi, Karolina Schnabel, Dániel Seidl, Kálmán Tory
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach. Human mutation 42 (11) (2021)
Eszter Balogh, Jennifer C Chandler, Máté Varga, Mona Tahoun, Dóra K Menyhárd, Gusztáv Schay, Tomas Goncalves, Renáta Hamar, Regina Légrádi, Ákos Szekeres, Olivier Gribouval, Robert Kleta, Horia Stanescu, Detlef Bockenhauer, Andrea Kerti, Hywel Williams, Veronica Kinsler, Wei-Li Di, David Curtis, Maria Kolatsi-Joannou, Hafsa Hammid, Anna Szőcs, Kristóf Perczel, Erika Maka, Gergely Toldi, Florentina Sava, Christelle Arrondel, Magdolna Kardos, Attila Fintha, Ahmed Hossain, Felice D'Arco, Marios Kaliakatsos, Jutta Koeglmeier, William Mifsud, Mariya Moosajee, Ana Faro, Eszter Jávorszky, Gábor Rudas, Marwa H Saied, Salah Marzouk, Kata Kelen, Judit Götze, George S Reusz, Tivadar Tulassay, François Dragon, Geraldine Mollet, Susanne Motameny, Holger Thiele, Guillaume Dorval, Peter Nürnberg, András Perczel, Attila J Szabo, David A Long, Kazunori Tomita, Corinne Antignac, Aoife M Waters, Kálmán Tory
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. Proceedings of the National Academy of Sciences of the United States of America 117 (26) (2020)
Linus Butt, David Unnersjö-Jess, Martin Höhne, Aurelie Edwards, Julia Binz-Lotter, Dervla Reilly, Robert Hahnfeldt, Vera Ziegler, Katharina Fremter, Markus M Rinschen, Martin Helmstädter, Lena K Ebert, Hayo Castrop, Matthias J Hackl, Gerd Walz, Paul T Brinkkoetter, Max Christoph Liebau, Kálmán Tory, Peter F Hoyer, Bodo B Beck, Hjalmar Brismar, Hans Blom, Bernhard Schermer, Thomas Benzing
A molecular mechanism explaining albuminuria in kidney disease. Nature metabolism 2 (5) (2020)
Ágnes Mikó, Dóra K Menyhárd, Ambrus Kaposi, Corinne Antignac, Kálmán Tory
The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment. Human mutation 39 (12) (2018)

Kálmán Tory.css-eqlu8i{font-size:small;padding-left:4px;} (Kalman Tory)

Publication Activity (10 Years)

Top Topics

Top Venues

Kálmán Tory (Kalman Tory)