Hotspots of Human Mutation von Nesta, Alex V., Tafur, Denisse, Beck, Christine R.

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Revising the human mutation rate: implications for understanding human evolution von Scally, Aylwyn, Durbin, Richard

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Predicting the clinical impact of human mutation with deep neural networks von Sundaram, Laksshman, Gao, Hong, Padigepati, Samskruthi Reddy, McRae, Jeremy F., Li, Yanjun, Kosmicki, Jack A., Fritzilas, Nondas, Hakenberg, Jörg, Dutta, Anindita, Shon, John, Xu, Jinbo, Batzoglou, Serafim, Li, Xiaolin, Farh, Kyle Kai-How

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Rapid evolution of the human mutation spectrum von Harris, Kelley, Pritchard, Jonathan K

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A direct characterization of human mutation based on microsatellites von Sun, James X, Helgason, Agnar, Masson, Gisli, Ebenesersdóttir, Sigríður Sunna, Li, Heng, Mallick, Swapan, Gnerre, Sante, Patterson, Nick, Kong, Augustine, Reich, David, Stefansson, Kari

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Rate, molecular spectrum, and consequences of human mutation von Lynch, Michael

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Human Mutation special issue on “Variant Effect Prediction von Laner, Andreas, Maver, Ales, Dunnen, Johan T.

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The origin of human mutation in light of genomic data von Seplyarskiy, Vladimir B., Sunyaev, Shamil

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Estimating the human mutation rate using autozygosity in a founder population von Campbell, Catarina D, Chong, Jessica X, Malig, Maika, Ko, Arthur, Dumont, Beth L, Han, Lide, Vives, Laura, O'Roak, Brian J, Sudmant, Peter H, Shendure, Jay, Abney, Mark, Ober, Carole, Eichler, Evan E

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Human mutation rate associated with DNA replication timing von Stamatoyannopoulos, John A, Adzhubei, Ivan, Thurman, Robert E, Kryukov, Gregory V, Mirkin, Sergei M, Sunyaev, Shamil R

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Rats with a Human Mutation of NFU1 Develop Pulmonary Hypertension von Niihori, Maki, Eccles, Cody A, Kurdyukov, Sergey, Zemskova, Marina, Varghese, Mathews Valuparampil, Stepanova, Anna A, Galkin, Alexander, Rafikov, Ruslan, Rafikova, Olga

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Evidence for recent, population-specific evolution of the human mutation rate von Harris, Kelley

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Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation von Koren, Amnon, Polak, Paz, Nemesh, James, Michaelson, Jacob J., Sebat, Jonathan, Sunyaev, Shamil R., McCarroll, Steven A.

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Essential role of carbonic anhydrase XII in secretory gland fluid and HCO3− secretion revealed by disease causing human mutation von Hong, Jeong Hee, Muhammad, Emad, Zheng, Changyu, Hershkovitz, Eli, Alkrinawi, Soliman, Loewenthal, Neta, Parvari, Ruti, Muallem, Shmuel

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VX‐809 mitigates disease in a mouse model of autosomal dominant polycystic kidney disease bearing the R3277C human mutation von Yanda, Murali K., Cebotaru, Liudmila

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Human Mutation special issue on innovations in genomic diagnostics von Scott, Stuart A., Wang, Kai, Spinner, Nancy B.

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Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes von Narasimhan, Vagheesh M., Rahbari, Raheleh, Scally, Aylwyn, Wuster, Arthur, Mason, Dan, Xue, Yali, Wright, John, Trembath, Richard C., Maher, Eamonn R., van Heel, David A., Auton, Adam, Hurles, Matthew E., Tyler-Smith, Chris, Durbin, Richard

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Efficient Generation of Gene-Modified Pigs Harboring Precise Orthologous Human Mutation via CRISPR/Cas9-Induced Homology-Directed Repair in Zygotes von Zhou, Xiaoyang, Wang, Lulu, Du, Yinan, Xie, Fei, Li, Liang, Liu, Yu, Liu, Chuanhong, Wang, Shiqiang, Zhang, Shibing, Huang, Xingxu, Wang, Yong, Wei, Hong

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The impact of recombination on human mutation load and disease von Alves, Isabel, Houle, Armande Ang, Hussin, Julie G., Awadalla, Philip

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A human mutation in STAT3 promotes type 1 diabetes through a defect in CD8+ T cell tolerance von Warshauer, Jeremy T, Belk, Julia A, Chan, Alice Y, Wang, Jiaxi, Gupta, Alexander R, Shi, Quanming, Skartsis, Nikolaos, Peng, Yani, Phipps, Jonah D, Acenas, Dante, Smith, Jennifer A, Tamaki, Stanley J, Tang, Qizhi, Gardner, James M, Satpathy, Ansuman T, Anderson, Mark S

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