Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing

Authors: Evans, D. Gareth, Hartley, Claire L., Smith, Philip T., King, Andrew T., Bowers, Naomi L., Tobi, Simon, Wallace, Andrew J., Perry, Mary, Anup, Raji, Lloyd, Simon K.W., Rutherford, Scott A., Hammerbeck-Ward, Charlotte, Pathmanaban, Omar N., Stapleton, Emma, Freeman, Simon R., Kellett, Mark, Halliday, Dorothy, Parry, Allyson, Gair, Juliette J., Axon, Patrick, Laitt, Roger, Thomas, Owen, Afridi, Shazia K., Obholzer, Rupert, Duff, Chris, Stivaros, Stavros M., Vassallo, Grace, Harkness, Elaine F., Smith, Miriam J.

Source: In Genetics in Medicine January 2020 22(1):53-59

Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis.

Authors: Smith, Miriam J., Perez-Becerril, Cristina, van der Meer, Mwee, Burghel, George J., Waller, Sarah J., Carney, Megan, Bunstone, Sancha, Fryer, Katherine, Bowers, Naomi L., Hartley, Claire L., Smith, Philip T., Rutherford, Scott A., Freeman, Simon R., Lloyd, Simon K. W., Pathmanaban, Omar N., King, Andrew Thomas, Halliday, Dorothy, Duff, Chris, Evans, D. Gareth

Source: Journal of Medical Genetics; Nov2024, Vol. 61 Issue 11, p1011-1015, 5p

XBP1 signalling is essential for alleviating mutant protein aggregation in ER-stress related skeletal disease.

Authors: Pirog, Katarzyna A.¹, katarzyna.pirog@ncl.ac.uk, Dennis, Ella P.¹, Hartley, Claire L.², Jackson, Robert M.¹, Soul, Jamie², Schwartz, Jean-Marc², Bateman, John F.³, Boot-Handford, Raymond P.², Briggs, Michael D.¹

Source: PLoS Genetics; 7/1/2019, Vol. 15 Issue 7, p1-30, 30p

Re‐evaluation of missense variant classifications in NF2.

Authors: Sadler, Katherine V., Rowlands, Charlie F., Smith, Philip T., Hartley, Claire L., Bowers, Naomi L., Roberts, Nicola Y., Harris, Jade L., Wallace, Andrew J., Evans, D. Gareth, Messiaen, Ludwine M., Smith, Miriam J.

Source: Human Mutation; May2022, Vol. 43 Issue 5, p643-654, 12p

CRELD2 Is a Novel LRP1 Chaperone That Regulates Noncanonical WNT Signaling in Skeletal Development.

Authors: Dennis, Ella P, Edwards, Sarah M, Jackson, Robert M, Hartley, Claire L, Tsompani, Dimitra, Capulli, Mattia, Teti, Anna, Boot‐Handford, Raymond P, Young, David A, Piróg, Katarzyna A, Briggs, Michael D

Source: Journal of Bone & Mineral Research; Aug2020, Vol. 35 Issue 8, p1452-1469, 18p

Challenge for a new era—importance of ensuring accuracy of genotype in cystic fibrosis registries

Authors: Hartley, Claire L., Barry, Peter J., Green, Heather, Henchliffe, Jennifer, Brock, Joanna, Tobi, Simon E., Ramsden, Simon C., Horsley, Alexander R.

Source: In Journal of Cystic Fibrosis September 2016 15(5):e50-e51

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