Not logged inBiallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study
Loong, Lucy; Tardivo, Agostina; Knaus, Alexej; Hashim, Mona; Pagnamenta, Alistair T.; Alt, Kerstin; Boehrer-Rabel, Helena; Caro-Llopis, Alfonso; Cole, Trevor; Distelmaier, Felix; Edery, Patrick; Ferreira, Carlos R.; Jezela-Stanek, Aleksandra; Kerr, Bronwyn; Kluger, Gerhard; Krawitz, Peter M.; Kuhn, Marius; Lemke, Johannes R.; Lesca, Gaetan; Lynch, Sally Ann; Martinez, Francisco; Maxton, Caroline; Mierzewska, Hanna; Monfort, Sandra; Nicolai, Joost; Orellana, Carmen; Pal, Deb K.; Ploski, Rafal; Quarrell, Oliver W.; Rosello, Monica; Rydzanicz, Malgorzata; Sabir, Ataf; Smigiel, Robert; Stegmann, Alexander P. A.; Stewart, Helen; Stumpel, Constance; Szczepanik, Elzbieta; Tzschach, Andreas; Wolfe, Lynne; Taylor, Jenny C.; Murakami, Yoshiko; Kinoshita, Taroh; Bayat, Allan; Kini, Usha .png)
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SavePIGN encephalopathy: Characterizing the epileptologyBayat, Allan; Valles-Ibanez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro-Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carlos; Freeman, Jeremy; Gener, Blanca; Gorce, Magali; Heron, Delphine; Hildebrand, Michael S.; Jezela-Stanek, Aleksandra; Jouk, Pierre-Simon; Keren, Boris; Kloth, Katja; Kluger, Gerhard; Kuhn, Marius; Lemke, Johannes R.; Li, Hong; Martinez, Francisco; Maxton, Caroline; Mefford, Heather C.; Merla, Giuseppe; Mierzewska, Hanna; Muir, Alison; Monfort, Sandra; Nicolai, Joost; Norman, Jennifer; O'Grady, Gina; Oleksy, Barbara; Orellana, Carmen; Orec, Laura Elena; Peinhardt, Charlotte; Pronicka, Ewa; Rosello, Monica; Santos-Simarro, Fernando; Schwaibold, Eva Maria Christina; Stegmann, Alexander P. A.; Stumpel, Constance T.; Szczepanik, Elzbieta; Terczynska, Iwona; Thevenon, Julien; Tzschach, Andreas; Van Bogaert, Patrick; Vittorini, Roberta; Walsh, Sonja; Weckhuysen, Sarah; Weissman, Barbara; Wolfe, Lynne; Reymond, Alexandre; De Nittis, Pasquelena; Poduri, Annapurna; Olson, Heather; Striano, Pasquale; Lesca, Gaetan; Scheffer, Ingrid E.; Moller, Rikke S.; Sadleir, Lynette G. Share Save Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndromeVornweg, J.; Glaeser, S.; Ahmad-Anwar, M.; Zimmer, A. D.; Kuhn, M.; Hoerer, S.; Korenke, G. C.; Grothaus, J.; Ott, H.; Fischer, J. Share Save Improved Criteria for the Classification of Titin Variants in Inherited Skeletal MyopathiesSavarese, Marco; Johari, Mridul; Johnson, Katherine; Arumilli, Meharji; Torella, Annalaura; Topf, Ana; Rubegni, Anna; Kuhn, Marius; Giugliano, Teresa; Glaeser, Dieter; Fattori, Fabiana; Thompson, Rachel; Penttila, Sini; Lehtinen, Sara; Gibertini, Sara; Ruggieri, Alessandra; Mora, Marina; Maver, Ales; Peterlin, Borut; Mankodi, Ami; Lochmueller, Hanns; Santorelli, Filippo Maria; Schoser, Benedikt; Fajkusova, Lenka; Straub, Volker; Nigro, Vincenzo; Hackman, Peter; Udd, Bjarne Share Save SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathyVill, Katharina; Mueller-Felber, Wolfgang; Glaeser, Dieter; Kuhn, Marius; Teusch, Veronika; Schreiber, Herbert; Weis, Joachim; Klepper, Joerg; Schirmacher, Anja; Blaschek, Astrid; Wiessner, Manuela; Strom, Tim M.; Draeger, Bianca; Hofmeister-Kiltz, Kristina; Tacke, Moritz; Gerstl, Lucia; Young, Peter; Horvath, Rita; Senderek, Jan Share Save Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsyMignot, Cyril; von Stuelpnagel, Celina; Nava, Caroline; Ville, Dorothee; Sanlaville, Damien; Lesca, Gaetan; Rastetter, Agnes; Gachet, Benoit; Marie, Yannick; Korenke, G. Christoph; Borggraefe, Ingo; Hoffmann-Zacharska, Dorota; Szczepanik, Elzbieta; Rudzka-Dybala, Mariola; Yis, Uluc; Caglayan, Hande; Isapof, Arnaud; Marey, Isabelle; Panagiotakaki, Eleni; Korff, Christian; Rossier, Eva; Riess, Angelika; Beck-Woedl, Stefanie; Rauch, Anita; Zweier, Christiane; Hoyer, Juliane; Reis, Andre; Mironov, Mikhail; Bobylova, Maria; Mukhin, Konstantin; Hernandez-Hernandez, Laura; Maher, Bridget; Sisodiya, Sanjay; Kuhn, Marius; Glaeser, Dieter; Wechuysen, Sarah; Myers, Candace T.; Mefford, Heather C.; Hoertnagel, Konstanze; Biskup, Saskia; Lemke, Johannes R.; Heron, Delphine; Kluger, Gerhard; Depienne, Christel Share Save Share Save 
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