Items where Author is "McGrath, John A."

2022

Han, Ji Hoon and Ryan, Gavin and Guy, Alyson and Liu, Lu and Quinodoz, Mathieu and Helbling, Ingrid and Lai-Cheong, Joey E. and Genomics England Research Consortium, and Barwell, Julian and Folcher, Marc and McGrath, John A. and Moss, Celia and Rivolta, Carlo. (2022) Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder. Human Molecular Genetics, 31 (12). pp. 1970-1978.

2018

Petridis, Christos and Navarini, Alexander A. and Dand, Nick and Saklatvala, Jake and Baudry, David and Duckworth, Michael and Allen, Michael H. and Curtis, Charles J. and Lee, Sang Hyuck and Burden, A. David and Layton, Alison and Bataille, Veronique and Pink, Andrew E. and Carlavan, Isabelle and Voegel, Johannes J. and Spector, Timothy D. and Trembath, Richard C. and McGrath, John A. and Smith, Catherine H. and Barker, Jonathan N. and Simpson, Michael A.. (2018) Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne. Nature Communications, 9 (1). p. 5075.

2016

Zhong, Franklin L. and Mamaï, Ons and Sborgi, Lorenzo and Boussofara, Lobna and Hopkins, Richard and Robinson, Kim and Szeverényi, Ildikó and Takeichi, Takuya and Balaji, Reshmaa and Lau, Aristotle and Tye, Hazel and Roy, Keya and Bonnard, Carine and Ahl, Patricia J. and Jones, Leigh Ann and Baker, Paul and Lacina, Lukas and Otsuka, Atsushi and Fournie, Pierre R. and Malecaze, François and Lane, E. Birgitte and Akiyama, Masashi and Kabashima, Kenji and Connolly, John E. and Masters, Seth L. and Soler, Vincent J. and Omar, Salma Samir and McGrath, John A. and Nedelcu, Roxana and Gribaa, Moez and Denguezli, Mohamed and Saad, Ali and Hiller, Sebastian and Reversade, Bruno. (2016) Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation. Cell, 167 (1). pp. 187-202.e17.

2014

Has, Cristina and Kiritsi, Dimitra and Mellerio, Jemima E. and Franzke, Claus-Werner and Wedgeworth, Emma and Tantcheva-Poor, Iliana and Kernland-Lang, Kristin and Itin, Peter and Simpson, Michael A. and Dopping-Hepenstal, Patricia J. and Fujimoto, Wataru and McGrath, John A. and Bruckner-Tuderman, Leena. (2014) The Missense Mutation p.R1303Q in Type XVII Collagen Underlies Junctional Epidermolysis Bullosa Resembling Kindler Syndrome. Journal of investigative dermatology, Vol. 134, H. 3. pp. 845-849.

2008

Lugassy, Jennie and McGrath, John A. and Itin, Peter and Shemer, Revital and Verbov, Julian and Murphy, Helen R. and Ishida-Yamamoto, Akemi and Digiovanna, John J. and Bercovich, Dani and Karin, Nathan and Vitenshtein, Alon and Uitto, Jouni and Bergman, Reuven and Richard, Gabriele and Sprecher, Eli. (2008) KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome. Journal of investigative dermatology, Vol. 128, no. 6. pp. 1517-1524.