Genetic Analysis of RAB39B in an Early-Onset Parkinson's Disease Cohort

Tekijä Gao, Yujing, Wilson, Gabrielle R., Salce, Nicholas, Romano, Alexandra, Mellick, George D., Stephenson, Sarah E. M., Lockhart, Paul J.
Julkaisussa Front Neurol (2020)

Distribution of Parkinson’s disease associated RAB39B in mouse brain tissue

Tekijä Gao, Yujing, Wilson, Gabrielle R., Stephenson, Sarah E. M., Oulad-Abdelghani, Mustapha, Charlet-Berguerand, Nicolas, Bozaoglu, Kiymet, McLean, Catriona A., Thomas, Paul Q., Finkelstein, David I., Lockhart, Paul J.
Julkaisussa Mol Brain (2020)

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome

Tekijä Wilson, Gabrielle R, Sunley, Jasmine, Smith, Katherine R, Pope, Kate, Bromhead, Catherine J, Fitzpatrick, Elizabeth, Di Rocco, Maja, van Steensel, Maurice, Coman, David J, Leventer, Richard J, Delatycki, Martin B, Amor, David J, Bahlo, Melanie, Lockhart, Paul J
Julkaistu 2014

ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible

Tekijä Delatycki, Martin B, Wolthuizen, Michelle, Collins, Veronica, Varley, Elizabeth, Craven, Joanna, Allen, Katrina J, Gurrin, Lyle C, Aitken, Maryanne, Trembath, M Kaye, Bond, Lyndal, Wilson, Gabrielle R, Stephenson, Sarah EM, Macciocca, Ivan, Hickerton, Chriselle, Lockhart, Paul J, Metcalfe, Sylvia A
Julkaistu 2012

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

Tekijä Sim, Joe C H, White, Susan M, Fitzpatrick, Elizabeth, Wilson, Gabrielle R, Gillies, Greta, Pope, Kate, Mountford, Hayley S, Torring, Pernille M, McKee, Shane, Vulto-van Silfhout, Anneke T, Jhangiani, Shalini N, Muzny, Donna M, Leventer, Richard J, Delatycki, Martin B, Amor, David J, Lockhart, Paul J
Julkaistu 2014

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype

Tekijä de Vos, Ivo J H M, Tao, Evelyn Yaqiong, Ong, Sheena Li Ming, Goggi, Julian L, Scerri, Thomas, Wilson, Gabrielle R, Low, Chernis Guai Mun, Wong, Arnette Shi Wei, Grussu, Dominic, Stegmann, Alexander P A, van Geel, Michel, Janssen, Renske, Amor, David J, Bahlo, Melanie, Dunn, Norris R, Carney, Thomas J, Lockhart, Paul J, Coull, Barry J, van Steensel, Maurice A M
Julkaisussa Hum Mol Genet (2018)

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

Tekijä Wilson, Gabrielle R., Sim, Joe C.H., McLean, Catriona, Giannandrea, Maila, Galea, Charles A., Riseley, Jessica R., Stephenson, Sarah E.M., Fitzpatrick, Elizabeth, Haas, Stefan A., Pope, Kate, Hogan, Kirk J., Gregg, Ronald G., Bromhead, Catherine J., Wargowski, David S., Lawrence, Christopher H., James, Paul A., Churchyard, Andrew, Gao, Yujing, Phelan, Dean G., Gillies, Greta, Salce, Nicholas, Stanford, Lynn, Marsh, Ashley P.L., Mignogna, Maria L., Hayflick, Susan J., Leventer, Richard J., Delatycki, Martin B., Mellick, George D., Kalscheuer, Vera M., D’Adamo, Patrizia, Bahlo, Melanie, Amor, David J., Lockhart, Paul J.
Julkaisussa Am J Hum Genet (2014)