Piloting an automated query and scoring system to facilitate APDS patient identification from health systems by Amy M. FitzPatrick, Aaron T. Chin, Sharon Nirenberg, Charlotte Cunningham-Rundles, Keith Sacco, Jesse Perlmutter, Joseph F. Dasso, Athanasios Tsalatsanis, Jay Maru, Jessica Creech, Jolan E. Walter, Nicholas Hartog, Neema Izadi, Mandy Palmucci, Manish J. Butte, Klaus Loewy, Anurag Relan, Nicholas L. Rider

Get full text

Factors associated with and kinetics of anti–IFN-α autoantibodies in RAG1/2 deficiency by Chen Wang, MD, David Evan Potts, MSc, Bijun Sun, MD, Marta Toth, PhD, Boglarka Ujhazi, MSc, Svetlana Sharapova, PhD, Rahim Miller, BS, Lindsey Rosen, PhD, Melis Yilmaz, BS, Kellie Larsen, MSc, Ottavia M. Delmonte, MD, PhD, Laura E. Poskitt, DO, Eric J. Allenspach, MD, PhD, Maria Teresa de la Morena, MD, Brant R. Ward, MD, PhD, Joseph D. Hernandez, MD, PhD, Christoph B. Geier, MD, MSc, Hannie Zomer Bolanos, MD, Waleed Al-Herz, MD, Taco W. Kuijpers, MD, PhD, Andrej A. Petrov, MD, Sinisa Savic, MBBS, PhD, Karin Chen, MD, Emma Westermann-Clark, MD, Cullen M. Dutmer, MD, Maria G. Kanariou, MD, Mehdi Adeli, MD, Paolo Palma, MD, PhD, Carmem Bonfim, MD, PhD, Evangelia Lycopoulou, MD, Beata Wolska-Kusnierz, PhD, Mayra de Barros Dorna, MD, Ghassan Dbaibo, MD, Jack Bleesing, MD, PhD, Despina Moshous, MD, PhD, Francesco Licciardi, MD, Benedicte Neven, MD, PhD, Catharina Schuetz, MD, Raif S. Geha, MD, Maurizio Miano, MD, Stanton C. Goldman, MD, Jason Raasch, MD, Luis Ignacio Gonzalez-Granado, MD, Fatih Celmeli, MD, Safa Baris, MD, Roshini S. Abraham, PhD, David K. Buchbinder, MD, MSHS, Manish J. Butte, MD, PhD, Ji-Yang Wang, PhD, Xiaochuan Wang, MD, Kevin A. Strauss, MD, Steven M. Holland, MD, Luigi D. Notarangelo, MD, Jolan E. Walter, MD, PhD

Get full text

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative. by Guillaume Butler-Laporte, Gundula Povysil, Jack A Kosmicki, Elizabeth T Cirulli, Theodore Drivas, Simone Furini, Chadi Saad, Axel Schmidt, Pawel Olszewski, Urszula Korotko, Mathieu Quinodoz, Elifnaz Çelik, Kousik Kundu, Klaudia Walter, Junghyun Jung, Amy D Stockwell, Laura G Sloofman, Daniel M Jordan, Ryan C Thompson, Diane Del Valle, Nicole Simons, Esther Cheng, Robert Sebra, Eric E Schadt, Seunghee Kim-Schulze, Sacha Gnjatic, Miriam Merad, Joseph D Buxbaum, Noam D Beckmann, Alexander W Charney, Bartlomiej Przychodzen, Timothy Chang, Tess D Pottinger, Ning Shang, Fabian Brand, Francesca Fava, Francesca Mari, Karolina Chwialkowska, Magdalena Niemira, Szymon Pula, J Kenneth Baillie, Alex Stuckey, Antonio Salas, Xabier Bello, Jacobo Pardo-Seco, Alberto Gómez-Carballa, Irene Rivero-Calle, Federico Martinón-Torres, Andrea Ganna, Konrad J Karczewski, Kumar Veerapen, Mathieu Bourgey, Guillaume Bourque, Robert Jm Eveleigh, Vincenzo Forgetta, David Morrison, David Langlais, Mark Lathrop, Vincent Mooser, Tomoko Nakanishi, Robert Frithiof, Michael Hultström, Miklos Lipcsey, Yanara Marincevic-Zuniga, Jessica Nordlund, Kelly M Schiabor Barrett, William Lee, Alexandre Bolze, Simon White, Stephen Riffle, Francisco Tanudjaja, Efren Sandoval, Iva Neveux, Shaun Dabe, Nicolas Casadei, Susanne Motameny, Manal Alaamery, Salam Massadeh, Nora Aljawini, Mansour S Almutairi, Yaseen M Arabi, Saleh A Alqahtani, Fawz S Al Harthi, Amal Almutairi, Fatima Alqubaishi, Sarah Alotaibi, Albandari Binowayn, Ebtehal A Alsolm, Hadeel El Bardisy, Mohammad Fawzy, Fang Cai, Nicole Soranzo, Adam Butterworth, COVID-19 Host Genetics Initiative, DeCOI Host Genetics Group, GEN-COVID Multicenter Study (Italy), Mount Sinai Clinical Intelligence Center, GEN-COVID consortium (Spain), GenOMICC Consortium, Japan COVID-19 Task Force, Regeneron Genetics Center, Daniel H Geschwind, Stephanie Arteaga, Alexis Stephens, Manish J Butte, Paul C Boutros, Takafumi N Yamaguchi, Shu Tao, Stefan Eng, Timothy Sanders, Paul J Tung, Michael E Broudy, Yu Pan, Alfredo Gonzalez, Nikhil Chavan, Ruth Johnson, Bogdan Pasaniuc, Brian Yaspan, Sandra Smieszek, Carlo Rivolta, Stephanie Bibert, Pierre-Yves Bochud, Maciej Dabrowski, Pawel Zawadzki, Mateusz Sypniewski, Elżbieta Kaja, Pajaree Chariyavilaskul, Voraphoj Nilaratanakul, Nattiya Hirankarn, Vorasuk Shotelersuk, Monnat Pongpanich, Chureerat Phokaew, Wanna Chetruengchai, Katsushi Tokunaga, Masaya Sugiyama, Yosuke Kawai, Takanori Hasegawa, Tatsuhiko Naito, Ho Namkoong, Ryuya Edahiro, Akinori Kimura, Seishi Ogawa, Takanori Kanai, Koichi Fukunaga, Yukinori Okada, Seiya Imoto, Satoru Miyano, Serghei Mangul, Malak S Abedalthagafi, Hugo Zeberg, Joseph J Grzymski, Nicole L Washington, Stephan Ossowski, Kerstin U Ludwig, Eva C Schulte, Olaf Riess, Marcin Moniuszko, Miroslaw Kwasniewski, Hamdi Mbarek, Said I Ismail, Anurag Verma, David B Goldstein, Krzysztof Kiryluk, Alessandra Renieri, Manuel A R Ferreira, J Brent Richards

Get full text