Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia von Muir, Alison M., Gardner, Jennifer F., van Jaarsveld, Richard H., de Lange, Iris M., van der Smagt, Jasper J., Wilson, Golder N., Dubbs, Holly, Goldberg, Ethan M., Zitano, Lia, Bupp, Caleb, Martinez, Jose, Srour, Myriam, Accogli, Andrea, Alhakeem, Afnan, Meltzer, Meira, Gropman, Andrea, Brewer, Carole, Caswell, Richard C., Montgomery, Tara, McKenna, Caoimhe, McKee, Shane, Powell, Corinna, Vasudevan, Pradeep C., Brady, Angela F., Joss, Shelagh, Tysoe, Carolyn, Noh, Grace, Tarnopolsky, Mark, Brady, Lauren, Zafar, Muhammad, Schrier Vergano, Samantha A., Murray, Brianna, Sawyer, Lindsey, Hainline, Bryan E., Sapp, Katherine, DeMarzo, Danielle, Huismann, Darcy J., Wentzensen, Ingrid M., Schnur, Rhonda E., Monaghan, Kristin G., Juusola, Jane, Rhodes, Lindsay, Dobyns, William B., Lecoquierre, Francois, Goldenberg, Alice, Polster, Tilman, Axer-Schaefer, Susanne, Platzer, Konrad, Klöckner, Chiara, Hoffman, Trevor L., MacArthur, Daniel G., O’Leary, Melanie C., VanNoy, Grace E., England, Eleina, Varghese, Vinod C., Mefford, Heather C.

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Protein‐extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation von Ranta‐aho, Johanna, Felice, Kevin J., Jonson, Per Harald, Sarparanta, Jaakko, Yvorel, Cédric, Harzallah, Ines, Touraine, Renaud, Pais, Lynn, Austin‐Tse, Christina A., Ganesh, Vijay S., O'Leary, Melanie C., Rehm, Heidi L., Hehir, Michael K., Subramony, Sub, Wu, Qian, Udd, Bjarne, Savarese, Marco

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Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project von Stenton, Sarah L, O'Leary, Melanie C, Lemire, Gabrielle, VanNoy, Grace E, DiTroia, Stephanie, Ganesh, Vijay S, Groopman, Emily, O'Heir, Emily, Mangilog, Brian, Osei-Owusu, Ikeoluwa, Pais, Lynn S, Serrano, Jillian, Singer-Berk, Moriel, Weisburd, Ben, Wilson, Michael W, Austin-Tse, Christina, Abdelhakim, Marwa, Althagafi, Azza, Babbi, Giulia, Bellazzi, Riccardo, Bovo, Samuele, Carta, Maria Giulia, Casadio, Rita, Coenen, Pieter-Jan, De Paoli, Federica, Floris, Matteo, Gajapathy, Manavalan, Hoehndorf, Robert, Jacobsen, Julius O B, Joseph, Thomas, Kamandula, Akash, Katsonis, Panagiotis, Kint, Cyrielle, Lichtarge, Olivier, Limongelli, Ivan, Lu, Yulan, Magni, Paolo, Mamidi, Tarun Karthik Kumar, Martelli, Pier Luigi, Mulargia, Marta, Nicora, Giovanna, Nykamp, Keith, Pejaver, Vikas, Peng, Yisu, Pham, Thi Hong Cam, Podda, Maurizio S, Rao, Aditya, Rizzo, Ettore, Saipradeep, Vangala G, Savojardo, Castrense, Schols, Peter, Shen, Yang, Sivadasan, Naveen, Smedley, Damian, Soru, Dorian, Srinivasan, Rajgopal, Sun, Yuanfei, Sunderam, Uma, Tan, Wuwei, Tiwari, Naina, Wang, Xiao, Wang, Yaqiong, Williams, Amanda, Worthey, Elizabeth A, Yin, Rujie, You, Yuning, Zeiberg, Daniel, Zucca, Susanna, Bakolitsa, Constantina, Brenner, Steven E, Fullerton, Stephanie M, Radivojac, Predrag, Rehm, Heidi L, O'Donnell-Luria, Anne

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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death von Byrne, Alicia B., Arts, Peer, Ha, Thuong T., Kassahn, Karin S., Pais, Lynn S., O’Donnell-Luria, Anne, Babic, Milena, Frank, Mahalia S. B., Feng, Jinghua, Wang, Paul, Lawrence, David M., Eshraghi, Leila, Arriola, Luis, Toubia, John, Nguyen, Hung, McGillivray, George, Pinner, Jason, McKenzie, Fiona, Morrow, Rebecca, Lipsett, Jill, Manton, Nick, Khong, T. Yee, Moore, Lynette, Liebelt, Jan E., Schreiber, Andreas W., King-Smith, Sarah L., Hardy, Tristan S. E., Jackson, Matilda R., Barnett, Christopher P., Scott, Hamish S.

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Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death von Byrne, Alicia B., Arts, Peer, Ha, Thuong T., Kassahn, Karin S., Pais, Lynn S., O’Donnell-Luria, Anne, Babic, Milena, Frank, Mahalia S. B., Feng, Jinghua, Wang, Paul, Lawrence, David M., Eshraghi, Leila, Arriola, Luis, Toubia, John, Nguyen, Hung, McGillivray, George, Pinner, Jason, McKenzie, Fiona, Morrow, Rebecca, Lipsett, Jill, Manton, Nick, Khong, T. Yee, Moore, Lynette, Liebelt, Jan E., Schreiber, Andreas W., King-Smith, Sarah L., Hardy, Tristan S. E., Jackson, Matilda R., Barnett, Christopher P., Scott, Hamish S.

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Additional file 1 of Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project von Stenton, Sarah L., O’Leary, Melanie C., Lemire, Gabrielle, VanNoy, Grace E., DiTroia, Stephanie, Ganesh, Vijay S., Groopman, Emily, O’Heir, Emily, Mangilog, Brian, Osei-Owusu, Ikeoluwa, Pais, Lynn S., Serrano, Jillian, Singer-Berk, Moriel, Weisburd, Ben, Wilson, Michael W., Austin-Tse, Christina, Abdelhakim, Marwa, Althagafi, Azza, Babbi, Giulia, Bellazzi, Riccardo, Bovo, Samuele, Carta, Maria Giulia, Casadio, Rita, Coenen, Pieter-Jan, De Paoli, Federica, Floris, Matteo, Gajapathy, Manavalan, Hoehndorf, Robert, Jacobsen, Julius O. B., Joseph, Thomas, Kamandula, Akash, Katsonis, Panagiotis, Kint, Cyrielle, Lichtarge, Olivier, Limongelli, Ivan, Lu, Yulan, Magni, Paolo, Mamidi, Tarun Karthik Kumar, Martelli, Pier Luigi, Mulargia, Marta, Nicora, Giovanna, Nykamp, Keith, Pejaver, Vikas, Peng, Yisu, Pham, Thi Hong Cam, Podda, Maurizio S., Rao, Aditya, Rizzo, Ettore, Saipradeep, Vangala G., Savojardo, Castrense, Schols, Peter, Shen, Yang, Sivadasan, Naveen, Smedley, Damian, Soru, Dorian, Srinivasan, Rajgopal, Sun, Yuanfei, Sunderam, Uma, Tan, Wuwei, Tiwari, Naina, Wang, Xiao, Wang, Yaqiong, Williams, Amanda, Worthey, Elizabeth A., Yin, Rujie, You, Yuning, Zeiberg, Daniel, Zucca, Susanna, Bakolitsa, Constantina, Brenner, Steven E., Fullerton, Stephanie M., Radivojac, Predrag, Rehm, Heidi L., O’Donnell-Luria, Anne

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A single inactivating amino acid change in the SARS-CoV-2 NSP3 Mac1 domain attenuates viral replication in vivo von Taha, Taha Y, Suryawanshi, Rahul K, Chen, Irene P, Correy, Galen J, McCavitt-Malvido, Maria, O'Leary, Patrick C, Jogalekar, Manasi P, Diolaiti, Morgan E, Kimmerly, Gabriella R, Tsou, Chia-Lin, Gascon, Ronnie, Montano, Mauricio, Martinez-Sobrido, Luis, Krogan, Nevan J, Ashworth, Alan, Fraser, James S, Ott, Melanie

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Association Between Intestinal Microbiota Collected at Hospital Admission and Outcomes of Patients With Cirrhosis von Bajaj, Jasmohan S., Vargas, Hugo E., Reddy, K. Rajender, Lai, Jennifer C., O’Leary, Jacqueline G., Tandon, Puneeta, Wong, Florence, Mitrani, Robert, White, Melanie B., Kelly, Megan, Fagan, Andrew, Patil, Rohan, Sait, Shaimaa, Sikaroodi, Masoumeh, Thacker, Leroy R., Gillevet, Patrick M.

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Serum Levels of Metabolites Produced by Intestinal Microbes and Lipid Moieties Independently Associated With Acute-on-Chronic Liver Failure and Death in Patients With Cirrhosis von Bajaj, Jasmohan S., Reddy, K. Rajender, O’Leary, Jacqueline G., Vargas, Hugo E., Lai, Jennifer C., Kamath, Patrick S., Tandon, Puneeta, Wong, Florence, Subramanian, Ram M., Thuluvath, Paul, Fagan, Andrew, White, Melanie B., Gavis, Edith A., Sehrawat, Tejasav, de la Rosa Rodriguez, Randolph, Thacker, Leroy R., Sikaroodi, Masoumeh, Garcia-Tsao, Guadalupe, Gillevet, Patrick M.

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Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes von Zech, Michael, Kopajtich, Robert, Steinbrücker, Katja, Bris, Céline, Gueguen, Naig, Feichtinger, René G., Achleitner, Melanie T., Duzkale, Neslihan, Périvier, Maximilien, Koch, Johannes, Engelhardt, Harald, Freisinger, Peter, Wagner, Matias, Brunet, Theresa, Berutti, Riccardo, Smirnov, Dmitrii, Navaratnarajah, Tharsini, Rodenburg, Richard J.T., Pais, Lynn S, Austin‐Tse, Christina, O'Leary, Melanie, Boesch, Sylvia, Jech, Robert, Bakhtiari, Somayeh, Jin, Sheng Chih, Wilbert, Friederike, Kruer, Michael C, Wortmann, Saskia B., Eckenweiler, Matthias, Mayr, Johannes A., Distelmaier, Felix, Steinfeld, Robert, Winkelmann, Juliane, Prokisch, Holger

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Return of Individual Research Results: A Guide for Biomedical Researchers Utilizing Human Biospecimens von Sobel, Mark E, Dreyfus, Jennifer C, Dillehay McKillip, Kelsey, Kolarcik, Christi, Muller, William A, Scott, Melanie J, Siegal, Gene P, Wadosky, Kristine, O'Leary, Timothy J

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Closure of Patent Foramen Ovale versus Medical Therapy after Cryptogenic Stroke von Carroll, John D, Saver, Jeffrey L, Thaler, David E, Smalling, Richard W, Berry, Scott, MacDonald, Lee A, Marks, David S, Tirschwell, David L

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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort von van der Sluijs, Pleuntje J., Joosten, Marieke, Alby, Caroline, Attié-Bitach, Tania, Gilmore, Kelly, Dubourg, Christele, Fradin, Mélanie, Wang, Tianyun, Kurtz-Nelson, Evangeline C., Ahlers, Kaitlyn P., Arts, Peer, Barnett, Christopher P., Ashfaq, Myla, Baban, Anwar, van den Born, Myrthe, Borrie, Sarah, Busa, Tiffany, Byrne, Alicia, Carriero, Miriam, Cesario, Claudia, Chong, Karen, Cueto-González, Anna Maria, Dempsey, Jennifer C., Diderich, Karin E.M., Doherty, Dan, Farholt, Stense, Gerkes, Erica H., Gorokhova, Svetlana, Govaerts, Lutgarde C.P., Gregersen, Pernille A., Hickey, Scott E., Lefebvre, Mathilde, Mari, Francesca, Martinovic, Jelena, Northrup, Hope, O’Leary, Melanie, Parbhoo, Kareesma, Patrier, Sophie, Popp, Bernt, Santos-Simarro, Fernando, Stoltenburg, Corinna, Thauvin-Robinet, Christel, Thompson, Elisabeth, Vulto-van Silfhout, Anneke T., Zahir, Farah R., Scott, Hamish S., Earl, Rachel K., Eichler, Evan E., Vora, Neeta L., Wilnai, Yael, Giordano, Jessica L., Wapner, Ronald J., Rosenfeld, Jill A., Haak, Monique C., Santen, Gijs W.E.

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Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy von Verdura, Edgard, Rodríguez-Palmero, Agustí, Vélez-Santamaria, Valentina, Planas-Serra, Laura, de la Calle, Irene, Raspall-Chaure, Miquel, Roubertie, Agathe, Benkirane, Mehdi, Saettini, Francesco, Pavinato, Lisa, Mandrile, Giorgia, O'Leary, Melanie, O'Heir, Emily, Barredo, Estibaliz, Chacón, Almudena, Michaud, Vincent, Goizet, Cyril, Ruiz, Montserrat, Schlüter, Agatha, Rouvet, Isabelle, Sala-Coromina, Julia, Fossati, Chiara, Iascone, Maria, Canonico, Francesco, Marcé-Grau, Anna, de Souza, Precilla, Adams, David R, Casasnovas, Carlos, Rehm, Heidi L, Mefford, Heather C, González Gutierrez-Solana, Luis, Brusco, Alfredo, Koenig, Michel, Macaya, Alfons, Pujol, Aurora

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The whiff of decay: Linking volatile production and extracellular enzymes to outcomes of fungal interactions at different temperatures von O'Leary, Jade, Hiscox, Jen, Eastwood, Dan C., Savoury, Melanie, Langley, Andrew, McDowell, Stuart W., Rogers, Hilary J., Boddy, Lynne, Müller, Carsten T.

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Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies von Brooks, Daniel, Burke, Elizabeth, Lee, Sukyeong, Eble, Tanya N., O’Leary, Melanie, Osei-Owusu, Ikeoluwa, Rehm, Heidi L., Dhar, Shweta U., Emrick, Lisa, Bick, David, Nehrebecky, Michelle, Macnamara, Ellen, Casas-Alba, Dídac, Armstrong, Judith, Prat, Carolina, Martínez-Monseny, Antonio F., Palau, Francesc, Liu, Pengfei, Adams, David, Lalani, Seema, Rosenfeld, Jill A., Burrage, Lindsay C.

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DLG4-related synaptopathy: a new rare brain disorder von Rodríguez-Palmero, Agustí, Boerrigter, Melissa Maria, Gómez-Andrés, David, Aldinger, Kimberly A., Marcos-Alcalde, Íñigo, Popp, Bernt, Everman, David B., Lovgren, Alysia Kern, Arpin, Stephanie, Bahrambeigi, Vahid, Beunders, Gea, Bisgaard, Anne-Marie, Bjerregaard, V. A., Bruel, Ange-Line, Challman, Thomas D., Cogné, Benjamin, Coubes, Christine, de Man, Stella A., Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Elmslie, Frances, Feuk, Lars, García-Miñaúr, Sixto, Gertler, Tracy, Giorgio, Elisa, Gruchy, Nicolas, Haack, Tobias B., Haldeman-Englert, Chad R., Haukanes, Bjørn Ivar, Hoyer, Juliane, Hurst, Anna C. E., Isidor, Bertrand, Soller, Maria Johansson, Kushary, Sulagna, Kvarnung, Malin, Landau, Yuval E., Leppig, Kathleen A., Lindstrand, Anna, Kleinendorst, Lotte, MacKenzie, Alex, Mandrile, Giorgia, Mendelsohn, Bryce A., Moghadasi, Setareh, Morton, Jenny E., Moutton, Sebastien, Müller, Amelie J., O’Leary, Melanie, Pacio-Míguez, Marta, Palomares-Bralo, Maria, Parikh, Sumit, Pfundt, Rolph, Pode-Shakked, Ben, Rauch, Anita, Repnikova, Elena, Revah-Politi, Anya, Ross, Meredith J., Ruivenkamp, Claudia A. L., Sarrazin, Elisabeth, Savatt, Juliann M., Schlüter, Agatha, Schönewolf-Greulich, Bitten, Shad, Zohra, Shaw-Smith, Charles, Shieh, Joseph T., Shohat, Motti, Spranger, Stephanie, Thiese, Heidi, Mau-Them, Frederic Tran, van Bon, Bregje, van de Burgt, Ineke, van de Laar, Ingrid M. B. H., van Drie, Esmée, van Haelst, Mieke M., van Ravenswaaij-Arts, Conny M., Verdura, Edgard, Vitobello, Antonio, Waldmüller, Stephan, Whiting, Sharon, Zweier, Christiane, Prada, Carlos E., de Vries, Bert B. A., Dobyns, William B., Reiter, Simone F., Gómez-Puertas, Paulino, Pujol, Aurora, Tümer, Zeynep

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Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia von Saettini, Francesco, Guerra, Fabiola, Mauri, Mario, Salter, Claire G., Adam, Margaret P., Adams, David, Baple, Emma L., Barredo, Estibaliz, Bhatia, Sanil, Borkhardt, Arndt, Brusco, Alfredo, Bugarin, Cristina, Chinello, Clizia, Crosby, Andrew H., D’Souza, Precilla, Denti, Vanna, Fazio, Grazia, Giuliani, Silvia, Kuehn, Hye Sun, Amel, Hassan, Elmi, Asha, Lo, Bernice, Malighetti, Federica, Mandrile, Giorgia, Martín-Nalda, Andrea, Mefford, Heather C., Moratto, Daniele, Emam Mousavi, Fatemeh, Nelson, Zoe, Gutiérrez-Solana, Luis González, Macnamara, Ellen, Michaud, Vincent, O’Leary, Melanie, Pagani, Lisa, Pavinato, Lisa, Santamaria, Patricia VVelez, Planas-Serra, Laura, Quadri, Manuel, Raspall-Chaure, Miquel, Rebellato, Stefano, Rosenzweig, Sergio D., Roubertie, Agathe, Holzinger, Dirk, Deal, Christin, Vockley, Catherine Walsh, Savino, Angela Maria, L.Stoddard, Jennifer, Uhlig, Holm H., Pujol, Aurora, Magni, Fulvio, Paglia, Giuseppe, Cazzaniga, Gianni, Piazza, Rocco, Barberis, Matteo, Biondi, Andrea

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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort von van der Sluijs, Pleuntje J., Joosten, Marieke, Alby, Caroline, Attié-Bitach, Tania, Gilmore, Kelly, Dubourg, Christele, Fradin, Mélanie, Wang, Tianyun, Kurtz-Nelson, Evangeline C., Ahlers, Kaitlyn P., Arts, Peer, Barnett, Christopher P., Ashfaq, Myla, Baban, Anwar, van den Born, Myrthe, Borrie, Sarah, Busa, Tiffany, Byrne, Alicia, Carriero, Miriam, Cesario, Claudia, Chong, Karen, Cueto-González, Anna Maria, Dempsey, Jennifer C., Diderich, Karin E.M., Doherty, Dan, Farholt, Stense, Gerkes, Erica H., Gorokhova, Svetlana, Govaerts, Lutgarde C.P., Gregersen, Pernille A., Hickey, Scott E., Lefebvre, Mathilde, Mari, Francesca, Martinovic, Jelena, Northrup, Hope, O’Leary, Melanie, Parbhoo, Kareesma, Patrier, Sophie, Popp, Bernt, Santos-Simarro, Fernando, Stoltenburg, Corinna, Thauvin-Robinet, Christel, Thompson, Elisabeth, Vulto-van Silfhout, Anneke T., Zahir, Farah R., Scott, Hamish S., Earl, Rachel K., Eichler, Evan E., Vora, Neeta L., Wilnai, Yael, Giordano, Jessica L., Wapner, Ronald J., Rosenfeld, Jill A., Haak, Monique C., Santen, Gijs W.E.

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Return of Individual Research Results von Sobel, Mark E., Dreyfus, Jennifer C., Dillehay McKillip, Kelsey, Kolarcik, Christi, Muller, William A., Scott, Melanie J., Siegal, Gene P., Wadosky, Kristine, O'Leary, Timothy J.

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