Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features
Lessel, Davor, Vaz, Bruno, Halder, Swagata, Lockhart, Paul J, Marinovic-Terzic, Ivana, Lopez-Mosqueda, Jaime, Philipp, Melanie, Sim, Joe C H, Smith, Katherine R, Oehler, Judith, Cabrera, Elisa, Freire, Raimundo, Pope, Kate, Nahid, Amsha, Norris, Fiona, Leventer, Richard J, Delatycki, Martin B, Barbi, Gotthold, von Ameln, Simon, Högel, Josef, Degoricija, Marina, Fertig, Regina, Burkhalter, Martin D, Hofmann, Kay, Thiele, Holger, Altmüller, Janine, Nürnberg, Gudrun, Nürnberg, Peter, Bahlo, Melanie, Martin, George M, Aalfs, Cora M, Oshima, Junko, Terzic, Janos, Amor, David J, Dikic, Ivan, Ramadan, Kristijan, Kubisch, Christian
Published in Nature genetics (01.11.2014)
Published in Nature genetics (01.11.2014)
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Journal Article
ARID1B-mediated disorders: Mutations and possible mechanisms
Sim, Joe C. H., White, Susan M, Lockhart, Paul J.
Published in Intractable & Rare Diseases Research (01.02.2015)
Published in Intractable & Rare Diseases Research (01.02.2015)
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Journal Article
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency
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
Published in Orphanet journal of rare diseases (27.03.2014)
Published in Orphanet journal of rare diseases (27.03.2014)
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Journal Article
Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology
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.
Published in American journal of human genetics (04.12.2014)
Published in American journal of human genetics (04.12.2014)
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Journal Article
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss
Marsh, Ashley P L, Lukic, Vesna, Pope, Kate, Bromhead, Catherine, Tankard, Rick, Ryan, Monique M, Yiu, Eppie M, Sim, Joe C H, Delatycki, Martin B, Amor, David J, McGillivray, George, Sherr, Elliott H, Bahlo, Melanie, Leventer, Richard J, Lockhart, Paul J
Published in Neurology. Genetics (01.08.2015)
Published in Neurology. Genetics (01.08.2015)
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Journal Article
Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with [alpha]-Synuclein Pathology
Wilson, Gabrielle R, Sim, Joe CH, McLean, Catriona, Giannandrea, Maila, Galea, Charles A, Riseley, Jessica R, Stephenson, Sarah EM, 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 PL, 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
Published in American journal of human genetics (04.12.2014)
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Published in American journal of human genetics (04.12.2014)
Journal Article