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Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.
Lancet Neurol
2025
24
3
218-229

Dafsari, Hormos Salimi;Deneubourg, Celine;Singh, Kritarth;Maroofian, Reza;Suprenant, Zita;Kho, Ay Lin;Ingham, Neil J;Steel, Karen P;Sheshadri, Preethi;Baur, Franciska;Hentrich, Lea;Gerisch, Birgit;Zamani, Mina;Alves, Cesar;Siddiqui, Ata;Dafsari, Haidar S;Salari, Mehri;Lang, Anthony E;Harris, Michael;Abdelaleem, Alice;Sadeghian, Saeid;Azizimalamiri, Reza;Galehdari, Hamid;Shariati, Gholamreza;Sedaghat, Alireza;Zeighami, Jawaher;Calame, Daniel;Marafi, Dana;Duan, Ruizhi;Boehnke, Adrian;Clark, Gary D;Rosenfeld, Jill A;Mohila, Carrie A;Steel, Dora;Chopra, Saurabh;Sharma, Suvasini;Kohlschmidt, Nicolai;Patzer, Steffi;Saffari, Afshin;Ebrahimi-Fakhari, Darius;Çavdartepe, Büşra Eser;Chang, Irene J;Beckman, Erika;Peters, Renate;Fennell, Andrew Paul;Lo, Bernice;Averdunk, Luisa;Distelmaier, Felix;Baethmann, Martina;Elmslie, Frances;Joost, Kairit;Nampoothiri, Sheela;Yesodharan, Dhanya;Mandel, Hanna;Kimball, Amy;Kline, Antonie D;Mignot, Cyril;Keren, Boris;Laugel, Vincent;Õunap, Katrin;Devadathan, Kalpana;van Berkestijn, Frederique M C;Silwal, Arpana;Koene, Saskia;Verma, Sumit;Karim, Mohammed Yousuf;Boubidi, Chahynez;Aziz, Majid;ElGhazali, Gehad;Mattas, Lauren;Miryounesi, Mohammad;Hashemi-Gorji, Farzad;Alavi, Shahryar;Nouri, Nayereh;Noruzinia, Mehrdad;Kavousi, Saeideh;Kamath, Arveen;Jayawant, Sandeep;Saneto, Russell;Haridy, Nourelhoda A;Kart, Pinar Ozkan;Cansu, Ali;Joubert, Madeleine;Beneteau, Claire;Stuurman, Kyra E;Wilke, Martina;Barakat, Tahsin Stefan;Tajsharghi, Homa;Scardamaglia, Annarita;Vallian, Sadeq;Hız, Semra;Shoeibi, Ali;Boostani, Reza;Hashemi, Narges;Babaei, Meisam;Alsaleh, Norah Saleh;Porter, Julie;Attié-Bitach, Tania;Marzin, Pauline;Wicher, Dorota;Gold, Jessica I;Schuler, Elisabeth;Kashgari, Amna;Alanazi, Rakan F;Eyaid, Wafaa;Engelen, Marc;Langeveld, Mirjam;Stüve, Burkhard;Li, Yun;Yigit, Gökhan;Wollnik, Bernd;Monje, Mariana H G;Krainc, Dimitri;Mencacci, Niccolò E;Bakhtiari, Somayeh;Kruer, Michael;Argilli, Emanuela;Sherr, Elliott;Jamshidi, Yalda;Karimiani, Ehsan Ghayoor;Cheung, Yiu Wing Sunny;Karin, Ivan;Zifarelli, Giovanni;Bauer, Peter;Chung, Wendy K;Lupski, James R;Kurian, Manju A;Dötsch, Jörg;von Kleist-Retzow, Jürgen-Christoph;Klopstock, Thomas;Wagner, Matias;Yip, Calvin;Roos, Andreas;Carsetti, Rita;Dionisi-Vici, Carlo;Gautel, Mathias;Duchen, Michael R;Antebi, Adam;Houlden, Henry;Fanto, Manolis;Jungbluth, Heinz
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.
Ann Neurol
2025
98
5
932-950

Rots, Dmitrijs;Jakub, Taryn E;Keung, Crystal;Jackson, Adam;Banka, Siddharth;Pfundt, Rolph;de Vries, Bert B A;van Jaarsveld, Richard H;Hopman, Saskia M J;van Binsbergen, Ellen;Valenzuela, Irene;Hempel, Maja;Bierhals, Tatjana;Kortüm, Fanny;Lecoquierre, Francois;Goldenberg, Alice;Hertz, Jens Michael;Andersen, Charlotte Brasch;Kibæk, Maria;Prijoles, Eloise J;Stevenson, Roger E;Everman, David B;Patterson, Wesley G;Meng, Linyan;Gijavanekar, Charul;De Dios, Karl;Lakhani, Shenela;Levy, Tess;Wagner, Matias;Wieczorek, Dagmar;Benke, Paul J;Lopez Garcia, María Soledad;Perrier, Renee;Sousa, Sergio B;Almeida, Pedro M;Simões, Maria José;Isidor, Bertrand;Deb, Wallid;Schmanski, Andrew A;Abdul-Rahman, Omar;Philippe, Christophe;Bruel, Ange-Line;Faivre, Laurence;Vitobello, Antonio;Thauvin, Christel;Smits, Jeroen J;Garavelli, Livia;Caraffi, Stefano G;Peluso, Francesca;Davis-Keppen, Laura;Platt, Dylan;Royer, Erin;Leeuwen, Lisette;Sinnema, Margje;Stegmann, Alexander P A;Stumpel, Constance T R M;Tiller, George E;Bosch, Daniëlle G M;Potgieter, Stephanus T;Joss, Shelagh;Splitt, Miranda;Holden, Simon;Prapa, Matina;Foulds, Nicola;Douzgou, Sofia;Puura, Kaija;Waltes, Regina;Chiocchetti, Andreas G;Freitag, Christine M;Satterstrom, F Kyle;De Rubeis, Silvia;Buxbaum, Joseph;Gelb, Bruce D;Branko, Aleksic;Kushima, Itaru;Howe, Jennifer;Scherer, Stephen W;Arado, Alessia;Baldo, Chiara;Patat, Olivier;Bénédicte, Demeer;Lopergolo, Diego;Santorelli, Filippo M;Haack, Tobias B;Dufke, Andreas;Bertrand, Miriam;Falb, Ruth J;Rieß, Angelika;Krieg, Peter;Spranger, Stephanie;Bedeschi, Maria Francesca;Iascone, Maria;Josephi-Taylor, Sarah;Roscioli, Tony;Buckley, Michael F;Liebelt, Jan;Dagli, Aditi I;Aten, Emmelien;Hurst, Anna C E;Hicks, Alesha;Suri, Mohnish;Aliu, Ermal;Naik, Sunil;Sidlow, Richard;Coursimault, Juliette;Nicolas, Gaël;Küpper, Hanna;Petit, Florence;Ibrahim, Veyan;Top, Deniz;Di Cara, Francesca;Louie, Raymond J;Stolerman, Elliot;Brunner, Han G;Vissers, Lisenka E L M;Kramer, Jamie M;Kleefstra, Tjitske
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Am J Hum Genet
2025
112
11

Kasprzak, Jakub;Dulski, Jarosław;Schinwelski, Michał;Krygier, Magdalena;Zech, Michael;Sławek, Jarosław
ACTB-associated dystonia-deafness syndrome with good response to DBS GPi revisited.
Clin Park Relat Disord
2025
13

Lemoine, Lison;Hoelzl, Sarah;Hasenbein, Tim P;Graf, Elisabeth;Andergassen, Daniel
Long-read sequencing disentangles isoform complexity at allele-specific loci.
Sci Rep
2025
15
1

Klaproth-Andrade, Daniela;Scheller, Ines F;Tsitsiridis, Georgios;Loipfinger, Stefan;Mertes, Christian;Smirnov, Dmitrii;Prokisch, Holger;Yépez, Vicente A;Gagneur, Julien
PROTRIDER: protein abundance outlier detection from mass spectrometry-based proteomics data with a conditional autoencoder.
Bioinformatics
2025
41
12

Hingerl, Johannes C;Martens, Laura D;Karollus, Alexander;Manz, Trevor;Buenrostro, Jason D;Theis, Fabian J;Gagneur, Julien
scooby: modeling multimodal genomic profiles from DNA sequence at single-cell resolution.
Nat Methods
2025
22
11
2275-2285

Durvy, Béatrice;Schöner, Lukas;Ojopi, Tamara Reyes;Achstetter, Katharina;Busse, Reinhard;Carr, Katherine;Listl, Stefan;Németh, Orsolya;Skandrani, Amal;Tubert-Jeannin, Stéphanie;Vernazza, Chris;Winkelmann, Juliane;Waitzberg, Ruth
Conceptualising Essential Oral Health Benefits Baskets: A Thematic Analysis of Public and Expert Perspectives.
Health Expect
2025
28
6

Zech, Michael;Dzinovic, Ivana;Skorvanek, Matej;Harrer, Philip;Necpal, Jan;Kopajtich, Robert;Kittke, Volker;Tilch, Erik;Zhao, Chen;Tsoma, Eugenia;Sorrentino, Ugo;Indelicato, Elisabetta;Stehr, Antonia;Saparov, Alice;Abela, Lucia;Adamovicova, Miriam;Afenjar, Alexandra;Assmann, Birgit;Baloghova, Janette;Baumann, Matthias;Berutti, Riccardo;Brezna, Zuzana;Brugger, Melanie;Brunet, Theresa;Cogne, Benjamin;Colangelo, Isabel;Conboy, Erin;Distelmaier, Felix;Eckenweiler, Matthias;Garavaglia, Barbara;Geerlof, Arie;Graf, Elisabeth;Hackenberg, Annette;Harvanova, Denisa;Haslinger, Bernhard;Havrankova, Petra;Hoffmann, Georg F;Janzarik, Wibke G;Keren, Boris;Kolnikova, Miriam;Kolokotronis, Konstantinos;Kosutzka, Zuzana;Koy, Anne;Krenn, Martin;Krygier, Magdalena;Kusikova, Katarina;Maier, Oliver;Meitinger, Thomas;Mertes, Christian;Milenkovic, Ivan;Monfrini, Edoardo;Mourao, Andre Santos Dias;Musacchio, Thomas;Nizon, Mathilde;Ostrozovicova, Miriam;Pavlov, Martin;Prihodova, Iva;Rektorova, Irena;Romito, Luigi M;Rybanska, Barbora;Sadr-Nabavi, Ariane;Schwenger, Susanne;Shoeibi, Ali;Sitzberger, Alexandra;Smirnov, Dmitrii;Svantnerova, Jana;Tautanova, Raushana;Toelle, Sandra P;Ulmanova, Olga;Vetrini, Francesco;Vill, Katharina;Wagner, Matias;Weise, David;Zorzi, Giovanna;Di Fonzo, Alessio;Oexle, Konrad;Berweck, Steffen;Mall, Volker;Boesch, Sylvia;Schormair, Barbara;Prokisch, Holger;Jech, Robert;Winkelmann, Juliane
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Brain
2025
148
8
2827-2846

Sorrentino, Ugo;Pavlov, Martin;Tsoma, Eugenia;Havrankova, Petra;Necpal, Jan;Skorvanek, Matej;Jech, Robert;Prokisch, Holger;Winkelmann, Juliane;Zech, Michael
Integration of long-read nanopore sequencing for precision resolution of genomic variants in dystonia
Eur J Hum Genet
2025
33 Suppl 1
782-783