Nonsense-mediated mRNA decay: inter-individual variability and human disease

由 Nguyen, Lam Son, Wilkinson, Miles, Gecz, Jozef
出版 2013

Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability

由 Shoubridge, Cheryl, Walikonis, Randall S, Gécz, Jozef, Harvey, Robert J
出版 2010

Lessons learnt from large-scale exon re-sequencing of the X chromosome

由 Raymond, F. Lucy, Whibley, Annabel, Stratton, Michael R., Gecz, Jozef
出版 2009

La FAM fatale: USP9X in development and disease

由 Murtaza, Mariyam, Jolly, Lachlan A., Gecz, Jozef, Wood, Stephen A.
發表在 Cell Mol Life Sci (2015)

Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?

由 Shoubridge, Cheryl, Gardner, Alison, Schwartz, Charles E, Hackett, Anna, Field, Michael, Gecz, Jozef
出版 2012

Regulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor

由 Mattiske, Tessa, Tan, May H., Dearsley, Oliver, Cloosterman, Desiree, Hii, Charles S., Gécz, Jozef, Shoubridge, Cheryl
發表在 PLoS One (2018)

Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction

由 Carroll, Renée, Kumar, Raman, Shaw, Marie, Slee, Jennie, Kalscheuer, Vera M, Corbett, Mark A, Gecz, Jozef
發表在 Eur J Hum Genet (2017)

TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation

由 Christophe-Hobertus, Christiane, Kooy, Frank, Gecz, Jozef, Abramowicz, Marc J, Holinski-Feder, Elke, Schwartz, Charles, Christophe, Daniel
出版 2004

Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)

由 Fullston, Tod, Brueton, Louise, Willis, Tracey, Philip, Sunny, MacPherson, Lesley, Finnis, Merran, Gecz, Jozef, Morton, Jenny
出版 2010

Loss of Usp9x Disrupts Cortical Architecture, Hippocampal Development and TGFβ-Mediated Axonogenesis

由 Stegeman, Shane, Jolly, Lachlan A., Premarathne, Susitha, Gecz, Jozef, Richards, Linda J., Mackay-Sim, Alan, Wood, Stephen A.
出版 2013

A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity

由 Kolc, Kristy L, Sadleir, Lynette G, Scheffer, Ingrid E, Ivancevic, Atma, Roberts, Rachel, Pham, Duyen H, Gecz, Jozef
發表在 Mol Psychiatry (2018)

A novel locus for X-linked congenital cataract on Xq24

由 Craig, Jamie E., Friend, Kathryn L., Gecz, Jozef, Rattray, Kate M, Troski, Mark, Mackey, David A., Burdon, Kathryn P.
出版 2008

A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32

由 Hattersley, Kathryn, Laurie, Kate J, Liebelt, Jan E, Gecz, Jozef, Durkin, Shane R, Craig, Jamie E, Burdon, Kathryn P
出版 2010

FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure

由 Bensaid, Mounia, Melko, Mireille, Bechara, Elias G., Davidovic, Laetitia, Berretta, Antonio, Catania, Maria Vincenza, Gecz, Jozef, Lalli, Enzo, Bardoni, Barbara
出版 2009

Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity

由 Brookes, Emily, Laurent, Benoit, Õunap, Katrin, Carroll, Renee, Moeschler, John B., Field, Michael, Schwartz, Charles E., Gecz, Jozef, Shi, Yang
發表在 Hum Mol Genet (2015)

Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcript...

由 Shoubridge, Cheryl, Tan, May Huey, Fullston, Tod, Cloosterman, Desiree, Coman, David, McGillivray, George, Mancini, Grazia M, Kleefstra, Tjitske, Gécz, Jozef
出版 2010

Defects in tRNA anticodon loop 2'-O-methylation are implicated in non-syndromic X-linked intellectual disability due to mutations in FTSJ1

由 Guy, Michael P., Shaw, Marie, Weiner, Catherine L., Hobson, Lynne, Stark, Zornitza, Rose, Katherine, Kalscheuer, Vera M., Gecz, Jozef, Phizicky, Eric M.
發表在 Hum Mutat (2015)

Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform

由 Sharma, Shiwani, Burdon, Kathryn P., Dave, Alpana, Jamieson, Robyn V., Yaron, Yuval, Billson, Frank, Van Maldergem, Lionel, Lorenz, Birgit, Gécz, Jozef, Craig, Jamie E.
出版 2008

Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome

由 Zhu, Fuxi, Wang, Fengsong, Yang, Xiaoyu, Zhang, Jingjing, Wu, Huan, Zhang, Zhou, Zhang, Zhiguo, He, Xiaojin, Zhou, Ping, Wei, Zhaolian, Gecz, Jozef, Cao, Yunxia
發表在 Am J Hum Genet (2016)

Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome

由 Zhu, Fuxi, Wang, Fengsong, Yang, Xiaoyu, Zhang, Jingjing, Wu, Huan, Zhang, Zhou, Zhang, Zhiguo, He, Xiaojin, Zhou, Ping, Wei, Zhaolian, Gecz, Jozef, Cao, Yunxia
發表在 Am J Hum Genet (2016)