Menke, Martin;Grossewinkelmann, Clara M.;Riedhammer, Korbinian M.;Comic, Jasmina;Wagner, Matias;Braunisch, Matthias C.;Hoefele, Julia
Lifetime risk of autosomal recessive Alport syndrome calculated from genetic databases
Pediatr Nephrol
2023
38
7
2444-2444

Girod, Amanda;Byrne, Alicia B.;Sampson, Matthew G.;Mallett, Andrew;Rasouly, Hila Milo;Hoefele, Julia;Gbadegesin, Rasheed A.
The ClinGen CAKUT Gene Curation Expert Panel
Pediatr Nephrol
2023
38
7
2276-2276

Hecker, Dennis;Behjati Ardakani, Fatemeh;Karollus, Alexander;Gagneur, Julien;Schulz, Marcel H
The adapted Activity-By-Contact model for enhancer-gene assignment and its application to single-cell data.
Bioinformatics
2023
39
2

Lischka, Annette;Eggermann, Katja;Record, Christopher J;Dohrn, Maike F;Laššuthová, Petra;Kraft, Florian;Begemann, Matthias;Dey, Daniela;Eggermann, Thomas;Beijer, Danique;Šoukalová, Jana;Laura, Matilde;Rossor, Alexander M;Mazanec, Radim;Van Lent, Jonas;Tomaselli, Pedro J;Ungelenk, Martin;Debus, Karlien Y;Feely, Shawna M E;Gläser, Dieter;Jagadeesh, Sujatha;Martin, Madelena;Govindaraj, Geeta M;Singhi, Pratibha;Baineni, Revanth;Biswal, Niranjan;Ibarra-Ramírez, Marisol;Bonduelle, Maryse;Gess, Burkhard;Romero Sánchez, Juan;Suthar, Renu;Udani, Vrajesh;Nalini, Atchayaram;Unnikrishnan, Gopikrishnan;Marques, Wilson;Mercier, Sandra;Procaccio, Vincent;Bris, Céline;Suresh, Beena;Reddy, Vaishnavi;Skorupinska, Mariola;Bonello-Palot, Nathalie;Mochel, Fanny;Dahl, Georg;Sasidharan, Karthika;Devassikutty, Fiji M;Nampoothiri, Sheela;Rodovalho Doriqui, Maria J;Müller-Felber, Wolfgang;Vill, Katharina;Haack, Tobias B;Dufke, Andreas;Abele, Michael;Stucka, Rolf;Siddiqi, Saima;Ullah, Noor;Spranger, Stephanie;Chiabrando, Deborah;Bolgül, Behiye S;Parman, Yesim;Seeman, Pavel;Lampert, Angelika;Schulz, Jörg B;Wood, John N;Cox, James J;Auer-Grumbach, Michaela;Timmerman, Vincent;de Winter, Jonathan;Themistocleous, Andreas C;Shy, Michael;Bennett, David L;Baets, Jonathan;Hübner, Christian A;Leipold, Enrico;Züchner, Stephan;Elbracht, Miriam;Çakar, Arman;Senderek, Jan;Hornemann, Thorsten;Woods, C Geoffrey;Reilly, Mary M;Kurth, Ingo
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Brain
2023
146
12
4880-4890

Zellner, Alicia;Schaaf, Christian;Buettner-Herold, Maike;Kuhn, Peer-Hendrik;Braunisch, Matthias;Comic, Jasmina;Renders, Lutz;Schmaderer, Christoph;Heemann, Uwe;Hoefele, Julia;Riedhammer, Korbinian M.
CLASSIFICATION OF BIOPSY FINDINGS IN INDIVIDUALS WITH NEPHROPATHIES USINGMOLECULAR GENETIC TESTING AND PROTEOMICS
Nephrol Dial Transplant
2023
38 Suppl 1
I228-I228

Werren, Elizabeth A;Guxholli, Alba;Jones, Natasha;Wagner, Matias;Hannibal, Iris;Granadillo, Jorge L;Tyndall, Amanda V;Moccia, Amanda;Kuehl, Ryan;Levandoski, Kristin M;Day-Salvatore, Debra L;Wheeler, Marsha;Chong, Jessica X;Bamshad, Michael J;Innes, A Micheil;Pierson, Tyler Mark;Mackay, Joel P;Bielas, Stephanie L;Martin, Donna M
De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder.
HGG Adv
2023
4
3

Di Fonzo, Alessio;Jinnah, H A;Zech, Michael
Dystonia genes and their biological pathways.
Int Rev Neurobiol
2023
169
61-103

Brechtmann, Felix;Bechtler, Thibault;Londhe, Shubhankar;Mertes, Christian;Gagneur, Julien
Evaluation of input data modality choices on functional gene embeddings.
NAR Genom Bioinform
2023
5
4

Schlieben, Lea D;Prokisch, Holger
Genetics of mitochondrial diseases: Current approaches for the molecular diagnosis.
Handb Clin Neurol
2023
194
141-165

Paul, Maimuna S;Duncan, Anna R;Genetti, Casie A;Pan, Hongling;Jackson, Adam;Grant, Patricia E;Shi, Jiahai;Pinelli, Michele;Brunetti-Pierri, Nicola;Garza-Flores, Alexandra;Shahani, Dave;Saneto, Russell P;Zampino, Giuseppe;Leoni, Chiara;Agolini, Emanuele;Novelli, Antonio;Blümlein Tobias B Haack, Ulrike;Heinritz, Wolfram;Matzker, Eva;Alhaddad, Bader;Jamra, Rami Abou;Bartolomaeus, Tobias;AlHamdan, Saber;Carapito, Raphael;Isidor, Bertrand;Bahram, Seiamak;Ritter, Alyssa;Izumi, Kosuke;Shakked, Ben Pode;Barel, Ortal;Ben Zeev, Bruria;Begtrup, Amber;Carere, Deanna Alexis;Mullegama, Sureni V;Palculict, Timothy Blake;Calame, Daniel G;Schwan, Katharina;Aycinena, Alicia R P;Traberg, Rasa;Douzgou, Sofia;Pirt, Harrison;Ismayilova, Naila;Banka, Siddharth;Chao, Hsiao-Tuan;Agrawal, Pankaj B
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
2023
110
3