Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

Autor: Loong, Lucy, Tardivo, Agostina, Knaus, Alexej, Hashim, Mona, Pagnamenta, Alistair T., Alt, Kerstin, Böhrer-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., Płoski, Rafał, Quarrell, Oliver W., Rosello, Monica, Rydzanicz, Małgorzata, Sabir, Ataf, Śmigiel, Robert, Stegmann, Alexander P.A., Stewart, Helen, Stumpel, Constance, Szczepanik, Elżbieta, Tzschach, Andreas, Wolfe, Lynne, Taylor, Jenny C., Murakami, Yoshiko, Kinoshita, Taroh, Bayat, Allan, Kini, Usha

Publikováno v: In Genetics in Medicine January 2023 25(1):37-48

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A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder

Autor: Thompson, Miles D., Knaus, Alexej A., Barshop, Bruce A., Caliebe, Almuth, Muhle, Hiltrud, Nguyen, Thi Tuyet Mai, Baratang, Nissan V., Kinoshita, Taroh, Percy, Maire E., Campeau, Philippe M., Murakami, Yoshiko, Cole, David E., Krawitz, Peter M., Mabry, C. Charlton

Publikováno v: In European Journal of Medical Genetics April 2020 63(4)

PEDIA: prioritization of exome data by image analysis

Autor: Hsieh, Tzung-Chien ^{1, 2, 3}, Mensah, Martin A. ^{2, 3}, Pantel, Jean T. ^{1, 2, 3}, Aguilar, Dione ⁴, Bar, Omri ⁵, Bayat, Allan ⁶, Becerra-Solano, Luis ⁷, Bentzen, Heidi B. ⁸, Biskup, Saskia ⁹, Borisov, Oleg ¹, Braaten, Oivind ¹⁰, Ciaccio, Claudia ¹¹, Coutelier, Marie ², Cremer, Kirsten ¹², Danyel, Magdalena ², Daschkey, Svenja ¹³, Eden, Hilda David ⁵, Devriendt, Koenraad ¹⁴, Wilson, Sandra ¹⁵, Douzgou, Sofia ^{16, 17}, Đukić, Dejan ¹, Ehmke, Nadja ², Fauth, Christine ¹⁸, Fischer-Zirnsak, Björn ², Fleischer, Nicole ⁵, Gabriel, Heinz ¹⁹, Graul-Neumann, Luitgard ², Gripp, Karen W. ²⁰, Gurovich, Yaron ⁵, Gusina, Asya ²¹, Haddad, Nechama ², Hajjir, Nurulhuda ², Hanani, Yair ⁵, Hertzberg, Jakob ², Hoertnagel, Konstanze ⁹, Howell, Janelle ²², Ivanovski, Ivan ²³, Kaindl, Angela ²⁴, Kamphans, Tom ²⁵, Kamphausen, Susanne ²⁶, Karimov, Catherine ²⁷, Kathom, Hadil ²⁸, Keryan, Anna ²⁷, Knaus, Alexej ¹, Köhler, Sebastian ²⁹, Kornak, Uwe ², Lavrov, Alexander ³⁰, Leitheiser, Maximilian ², Lyon, Gholson J. ³¹, Mangold, Elisabeth ³², Reina, Purificación Marín ³³, Carrascal, Antonio Martinez ³⁴, Mitter, Diana ³⁵, Herrador, Laura Morlan ³⁶, Nadav, Guy ⁵, Nöthen, Markus ¹², Orrico, Alfredo ³⁷, Ott, Claus-Eric ², Park, Kristen ³⁸, Peterlin, Borut ³⁹, Pölsler, Laura ¹⁸, Raas-Rothschild, Annick ⁴⁰, Randolph, Linda ²⁷, Revencu, Nicole ⁴¹, Fagerberg, Christina Ringmann ⁴², Robinson, Peter Nick ⁴³, Rosnev, Stanislav ², Rudnik, Sabine ¹⁸, Rudolf, Gorazd ³⁹, Schatz, Ulrich ¹⁸, Schossig, Anna ¹⁸, Schubach, Max ³, Shanoon, Or ⁵, Sheridan, Eamonn ⁴⁴, Smirin-Yosef, Pola ⁴⁵, Spielmann, Malte ², Suk, Eun-Kyung ⁴⁶, Sznajer, Yves ⁴⁷, Thiel, Christian T. ⁴⁸, Thiel, Gundula ⁴⁶, Verloes, Alain ⁴⁹, Vrecar, Irena ³⁹, Wahl, Dagmar ⁵⁰, Weber, Ingrid ¹⁸, Winter, Korina ², Wiśniewska, Marzena ⁵¹, Wollnik, Bernd ⁵², Yeung, Ming W. ¹, Zhao, Max ², Zhu, Na ², Zschocke, Johannes ¹⁸, Mundlos, Stefan ², Horn, Denise ², Krawitz, Peter M. ¹

Publikováno v: In Genetics in Medicine December 2019 21(12):2807-2814

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

Autor: Murakami, Yoshiko, Nguyen, Thi Tuyet Mai, Baratang, Nissan, Raju, Praveen K., Knaus, Alexej, Ellard, Sian, Jones, Gabriela, Lace, Baiba, Rousseau, Justine, Ajeawung, Norbert Fonya, Kamei, Atsushi, Minase, Gaku, Akasaka, Manami, Araya, Nami, Koshimizu, Eriko, van den Ende, Jenneke, Erger, Florian, Altmüller, Janine, Krumina, Zita, Strautmanis, Jurgis, Inashkina, Inna, Stavusis, Janis, El-Gharbawy, Areeg, Sebastian, Jessica, Puri, Ratna Dua, Kulshrestha, Samarth, Verma, Ishwar C., Maier, Esther M., Haack, Tobias B., Israni, Anil, Baptista, Julia, Gunning, Adam, Rosenfeld, Jill A., Liu, Pengfei, Joosten, Marieke, Rocha, María Eugenia, Hashem, Mais O., Aldhalaan, Hesham M., Alkuraya, Fowzan S., Miyatake, Satoko, Matsumoto, Naomichi, Krawitz, Peter M., Rossignol, Elsa, Kinoshita, Taroh, Campeau, Philippe M.

Publikováno v: In The American Journal of Human Genetics 1 August 2019 105(2):384-394