Human NK cell deficiency as a result of biallelic mutations in MCM10

by Mace, Emily M, Paust, Silke, Conte, Matilde I, Baxley, Ryan M, Schmit, Megan M, Patil, Sagar L, Guilz, Nicole C, Mukherjee, Malini, Pezzi, Ashley E, Chmielowiec, Jolanta, Tatineni, Swetha, Chinn, Ivan K, Akdemir, Zeynep Coban, Jhangiani, Shalini N, Muzny, Donna M, Stray-Pedersen, Asbjørg, Bradley, Rachel E, Moody, Mo, Connor, Philip P, Heaps, Adrian G, Steward, Colin, Banerjee, Pinaki P, Gibbs, Richard A, Borowiak, Malgorzata, Lupski, James R, Jolles, Stephen, Bielinsky, Anja K, Orange, Jordan S
Published in The Journal of clinical investigation

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

by Thaventhiran, James E D, Lango Allen, Hana, Burren, Oliver S, Rae, William, Greene, Daniel, Staples, Emily, Zhang, Zinan, Farmery, James H R, Simeoni, Ilenia, Rivers, Elizabeth, Maimaris, Jesmeen, Penkett, Christopher J, Stephens, Jonathan, Deevi, Sri V V, Sanchis-Juan, Alba, Gleadall, Nicholas S, Thomas, Moira J, Sargur, Ravishankar B, Gordins, Pavels, Baxendale, Helen E, Brown, Matthew, Tuijnenburg, Paul, Worth, Austen, Hanson, Steven, Linger, Rachel J, Buckland, Matthew S, Rayner-Matthews, Paula J, Gilmour, Kimberly C, Samarghitean, Crina, Seneviratne, Suranjith L, Sansom, David M, Lynch, Andy G, Megy, Karyn, Ellinghaus, Eva, Ellinghaus, David, Jorgensen, Silje F, Karlsen, Tom H, Stirrups, Kathleen E, Cutler, Antony J, Kumararatne, Dinakantha S, Chandra, Anita, Edgar, J David M, Herwadkar, Archana, Cooper, Nichola, Grigoriadou, Sofia, Huissoon, Aarnoud P, Goddard, Sarah, Jolles, Stephen, Schuetz, Catharina, Boschann, Felix, Lyons, Paul A, Hurles, Matthew E, Savic, Sinisa, Burns, Siobhan O, Kuijpers, Taco W, Turro, Ernest, Ouwehand, Willem H, Thrasher, Adrian J, Smith, Kenneth G C
Published in Nature (London)