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PreviewIssue DateTitleAuthor(s)
2012Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculatureKazenwadel, J.; Secker, G.; Liu, Y.; Rosenfeld, J.; Wildin, R.; Cuellar-Rodriguez, J.; Hsu, A.; Dyack, S.; Fernandez, C.; Chong, C.; Babic, M.; Bardy, P.; Shimamura, A.; Zhang, M.; Walsh, T.; Holland, S.; Hickstein, D.; Horwitz, M.; Hahn, C.; Scott, H.; et al.
2013Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horseBellone, R.; Holl, H.; Sealuri, V.; Devi, S.; Maddodi, N.; Archer, S.; Sandmeyer, L.; Ludwig, A.; Foerster, D.; Pruvost, M.; Reissmann, M.; Bortfeldt, R.; Adelson, D.; Lim, S.; Nelson, J.; Haase, B.; Engensteiner, M.; Leeb, T.; Forsyth, G.; Mienaltowski, M.; et al.
2015Progesterone receptor modulates ERα action in breast cancerMohammed, H.; Russell, I.; Stark, R.; Rueda, O.; Hickey, T.; Tarulli, G.; Serandour, A.; Birrell, S.; Bruna, A.; Saadi, A.; Menon, S.; Hadfield, J.; Pugh, M.; Raj, G.; Brown, G.; D'Santos, C.; Robinson, J.; Silva, G.; Launchbury, R.; Perou, C.; et al.
2016TBC1D24 genotype-phenotype correlationBalestrini, S.; Milh, M.; Castiglioni, C.; Lüthy, K.; Finelli, M.; Verstreken, P.; Cardon, A.; Stražišar, B.; Holder, J.; Lesca, G.; Mancardi, M.; Poulat, A.; Repetto, G.; Banka, S.; Bilo, L.; Birkeland, L.; Bosch, F.; Brockmann, K.; Cross, J.; Doummar, D.; et al.
2013Identification Of KLHL41 mutations implicates BTB-Kelch-Mediated Ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathyGupta, V.; Ravenscroft, G.; Shaheen, R.; Todd, E.; Swanson, L.; Shiina, M.; Ogata, K.; Hsu, C.; Clarke, N.; Darras, B.; Farrar, M.; Hashem, A.; Manton, N.; Muntoni, F.; North, K.; Sandaradura, S.; Nishino, I.; Hayashi, Y.; Sewry, C.; Thompson, E.; et al.
2002Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndromeLower, K.; Turner, G.; Kerr, B.; Mathews, K.; Shaw, M.; Gedeon, A.; Schelley, S.; Hoyme, H.; White, S.; Delatycki, M.; Lampe, A.; Clayton-Smith, J.; Stewart, H.; van Ravenswaay, C.; de Vries, B.; Cox, B.; Grompe, M.; Ross, S.; Thomas, P.; Mulley, J.; et al.
2017Antenatal suppression of il-1 protects against inflammation-induced fetal injury and improves neonatal and developmental outcomes in miceNadeau-Vallée, M.; Chin, P.; Belarbi, L.; Brien, M.; Pundir, S.; Berryer, M.; Beaudry-Richard, A.; Madaan, A.; Sharkey, D.; Lupien-Meilleur, A.; Hou, X.; Quiniou, C.; Beaulac, A.; Boufaied, I.; Boudreault, A.; Carbonaro, A.; Doan, N.; Joyal, J.; Lubell, W.; Olson, D.; et al.
2018Plasmacytoid dendritic cells protect from viral bronchiolitis and asthma through semaphorin 4a-mediated T reg expansionLynch, J.; Werder, R.; Loh, Z.; Sikder, M.; Curren, B.; Zhang, V.; Rogers, M.; Lane, K.; Simpson, J.; Mazzone, S.; Spann, K.; Hayball, J.; Diener, K.; Everard, M.; Blyth, C.; Forstner, C.; Dennis, P.; Murtaza, N.; Morrison, M.; Cuív, P.; et al.
2008X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairmentDibbens, L.; Tarpey, P.; Hynes, K.; Bayly, M.; Scheffer, I.; Smith, R.; Bomar, J.; Sutton, E.; Vandeleur, L.; Shoubridge, C.; Edkins, S.; Turner, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Jones, D.; et al.
2010Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determinationPearlman, A.; Loke, J.; Le Caignec, C.; White, S.; Chin, L.; Friedman, A.; Warr, N.; Willan, J.; Brauer, D.; Farmer, C.; Brooks, E.; Oddoux, C.; Riley, B.; Shajahan, S.; Camerino, G.; Homfray, T.; Crosby, A.; Couper, J.; David, A.; Greenfield, A.; et al.