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A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery Danis, Daniel; Bamshad, Michael J.; Bridges, Yasemin; Caballero-Oteyza, Andres; Cacheiro, Pilar; Carmody, Leigh C.; Chimirri, Leonardo; Chong, Jessica X.; Coleman, Ben; Dalgleish, Raymond; Freeman, Peter J.; Graefe, Adam S. L.; Groza, Tudor; Hansen, Peter; Jacobsen, Julius O. B.; Klocperk, Adam; Kusters, Maaike; Ladewig, Markus S.; Marcello, Allison J.; Mattina, Teresa; Mungall, Christopher J.; Munoz-Torres, Monica C.; Reese, Justin T.; Rehburg, Filip; Reis, Barbara C. S.; Schuetz, Catharina; Smedley, Damian; Strauss, Timmy; Sundaramurthi, Jagadish Chandrabose; Thun, Sylvia; Wissink, Kyran; Wagstaff, John F.; Zocche, David; Haendel, Melissa A.; Robinson, Peter N. 分享 收藏
Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing Alizadeh, Zahra; Fazlollahi, Mohammad Reza; Mazinani, Marzieh; Badalzadeh, Mohsen; Heydarlou, Hanieh; Carapito, Raphael; Molitor, Anne; de Oteyza, Andres Caballero Garcia; Proietti, Michele; Bavani, Maryam Soleimani; Shariat, Mansoureh; Fallahpour, Morteza; Movahedi, Masoud; Moradi, Leila; Grimbacher, Bodo; Bahram, Seiamak; Pourpak, Zahra 分享 收藏
ARPC5 deficiency leads to severe early-onset systemic inflammation and mortality ARPC5缺陷导致严重的早发性全身炎症和死亡率 Sindram, Elena; Caballero-Oteyza, Andres; Kogata, Naoko; Huang, Shaina Chor Mei; Alizadeh, Zahra; Gamez-Diaz, Laura; Fazlollhi, Mohammad Reza; Peng, Xiao; Grimbacher, Bodo; Way, Michael; Proietti, Michele 分享 收藏
The GAIN Registry - a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation Staus, Paulina; Rusch, Stephan; El-Helou, Sabine; Mueller, Gabriele; Krausz, Mate; Geisen, Ulf; Caballero-Oteyza, Andres; Krueger, Renate; Bakhtiar, Shahrzad; Lee-Kirsch, Min Ae; Fasshauer, Maria; Baumann, Ulrich; Hoyer, Bimba Franziska; Neves, Joao Farela; Borte, Michael; Carrabba, Maria; Hauck, Fabian; Ehl, Stephan; Bader, Peter; von Bernuth, Horst; Atschekzei, Faranaz; Seppaenen, Mikko R. J.; Warnatz, Klaus; Nieters, Alexandra; Kindle, Gerhard; Grimbacher, Bodo 分享 收藏
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Multi-omics analysis of naive B cells of patients harboring the C104R mutation in TACI Ramirez, Neftali; Posadas-Cantera, Sara; Langer, Niko; de Oteyza, Andres Caballero Garcia; Proietti, Michele; Keller, Baerbel; Zhao, Fangwen; Gernedl, Victoria; Pecoraro, Matteo; Eibel, Hermann; Warnatz, Klaus; Ballestar, Esteban; Geiger, Roger; Bossen, Claudia; Grimbacher, Bodo 分享 收藏
Copy Number Analysis in a Large Cohort Suggestive of Inborn Errors of Immunity Indicates a Wide Spectrum of Relevant Chromosomal Losses and Gains Wan, Rensheng; Schieck, Maximilian; Caballero-Oteyza, Andres; Hofmann, Winfried; Cochino, Alexis Virgil; Shcherbina, Anna; Sherkat, Roya; Wache-Mainier, Clarisse; Fernandez, Anita; Sultan, Marc; Illig, Thomas; Grimbacher, Bodo; Proietti, Michele; Steinemann, Doris 分享 收藏
Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study Rojas-Restrepo, Jessica; Caballero-Oteyza, Andres; Huebscher, Katrin; Haberstroh, Hanna; Fliegauf, Manfred; Keller, Baerbel; Kobbe, Robin; Warnatz, Klaus; Ehl, Stephan; Proietti, Michele; Grimbacher, Bodo 分享 收藏
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Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis 275例高IgE综合征和/或慢性粘膜皮肤念珠菌病患者的遗传分析 Frede, Natalie; Rojas-Restrepo, Jessica; Caballero Garcia de Oteyza, Andres; Buchta, Mary; Huebscher, Katrin; Gamez-Diaz, Laura; Proietti, Michele; Saghafi, Shiva; Chavoshzadeh, Zahra; Soler-Palacin, Pere; Galal, Nermeen; Adeli, Mehdi; Aldave-Becerra, Juan Carlos; Al-Ddafari, Moudjahed Saleh; Ardenyz, Omur; Atkinson, T. Prescott; Kut, Fulya Bektas; Celmeli, Fatih; Rees, Helen; Kilic, Sara S.; Kirovski, Ilija; Klein, Christoph; Kobbe, Robin; Korganow, Anne-Sophie; Lilic, Desa; Lunt, Peter; Makwana, Niten; Metin, Ayse; Ozgur, Tuba Turul; Karakas, Ayse Akman; Seneviratne, Suranjith; Sherkat, Roya; Sousa, Ana Berta; Unal, Ekrem; Patiroglu, Turkan; Wahn, Volker; von Bernuth, Horst; Whiteford, Margo; Doffinger, Rainer; Jouhadi, Zineb; Grimbacher, Bodo 分享 收藏
Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency Magg, Thomas; Okano, Tsubasa; Koenig, Lars M.; Boehmer, Daniel F. R.; Schwartz, Samantha L.; Inoue, Kento; Heimall, Jennifer; Licciardi, Francesco; Ley-Zaporozhan, Julia; Ferdman, Ronald M.; Caballero-Oteyza, Andres; Park, Esther N.; Calderon, Brenda M.; Dey, Debayan; Kanegane, Hirokazu; Cho, Kazutoshi; Montin, Davide; Reiter, Karl; Griese, Matthias; Albert, Michael H.; Rohlfs, Meino; Gray, Paul; Walz, Christoph; Conn, Graeme L.; Sullivan, Kathleen E.; Klein, Christoph; Morio, Tomohiro; Hauck, Fabian 分享 收藏
Agammaglobulinemia with normal B-cell numbers in a patient lacking Bob1 缺乏Bob1的患者中b细胞数量正常的丙种球蛋白血症 Kury, Patrick; Staniek, Julian; Wegehaupt, Oliver; Janowska, Iga; Eckenweiler, Matthias; Korinthenberg, Rudolf; Japaridze, Natia; Pendziwiat, Manuela; Helbig, Ingo; Verhoeyen, Els; Jung, Johannes; de Oteyza, Andres Caballero Garcia; Proietti, Michele; Phirtskhalaishvili, Tamar; Rtskhiladze, Irakli; Nielsen, Peter J.; Ehl, Stephan; Speckmann, Carsten; Rizzi, Marta 分享 收藏
Altered Spectrum of Lymphoid Neoplasms in a Single-Center Cohort of Common Variable Immunodeficiency with Immune Dysregulation Wehr, Claudia; Houet, Leonora; Unger, Susanne; Kindle, Gerhard; Goldacker, Sigune; Grimbacher, Bodo; Caballero Garcia de Oteyza, Andres; Marks, Reinhard; Pfeifer, Dietmar; Nieters, Alexandra; Proietti, Michele; Warnatz, Klaus; Schmitt-Graeff, Annette 分享 收藏
Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1) 具有Sec61易位 α1亚基 (SEC61A1) 杂合突变的人类受试者的浆细胞缺乏 Schubert, Desiree; Klein, Marie-Christine; Hassdenteufel, Sarah; Caballero-Oteyza, Andres; Yang, Linlin; Proietti, Michele; Bulashevska, Alla; Kemming, Janine; Kuehn, Johannes; Winzer, Sandra; Rusch, Stephan; Fliegauf, Manfred; Schaffer, Alejandro A.; Pfeffer, Stefan; Geiger, Roger; Cavalie, Adolfo; Cao, Hongzhi; Yang, Fang; Li, Yong; Rizzi, Marta; Eibel, Hermann; Kobbe, Robin; Marks, Amy L.; Peppers, Brian P.; Hostoffer, Robert W.; Puck, Jennifer M.; Zimmermann, Richard; Grimbacher, Bodo 分享 收藏
Motor protein mutations cause a new form of hereditary spastic paraplegia Oteyza, Andres Caballero; Battaloglu, Esra; Ocek, Levent; Lindig, Tobias; Reichbauer, Jennifer; Rebelo, Adriana P.; Gonzalez, Michael A.; Zorlu, Yasar; Ozes, Burcak; Timmann, Dagmar; Bender, Benjamin; Woehlke, Guenther; Zuechner, Stephan; Schoels, Ludger; Schuele, Rebecca 分享 收藏
Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia Boukhris, Amir; Schule, Rebecca; Loureiro, Jose L.; Lourenco, Charles Marques; Mundwiller, Emeline; Gonzalez, Michael A.; Charles, Perrine; Gauthier, Julie; Rekik, Imen; Acosta Lebrigio, Rafael F.; Gaussen, Marion; Speziani, Fiorella; Ferbert, Andreas; Feki, Imed; Caballero-Oteyza, Andres; Dionne-Laporte, Alexandre; Amri, Mohamed; Noreau, Anne; Forlani, Sylvie; Cruz, Vitor T.; Mochel, Fanny; Coutinho, Paula; Dion, Patrick; Mhiri, Chokri; Schols, Ludger; Pouget, Jean; Darios, Frederic; Rouleau, Guy A.; Marques, Wilson; Brice, Alexis; Durr, Alexandra; Zuchner, Stephan; Stevanin, Giovanni 分享 收藏
Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54) 磷脂酶DDHD2突变引起常染色体隐性遗传性痉挛性截瘫 (SPG54) Gonzalez, Michael; Nampoothiri, Sheela; Kornblum, Cornelia; Oteyza, Andres Caballero; Walter, Jochen; Konidari, Ioanna; Hulme, William; Speziani, Fiorella; Schoels, Ludger; Zuechner, Stephan; Schuele, Rebecca 分享 收藏
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