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

Autor Nguyen, Lam Son, Wilkinson, Miles, Gecz, Jozef
Vydáno 2013

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

Autor Shoubridge, Cheryl, Walikonis, Randall S, Gécz, Jozef, Harvey, Robert J
Vydáno 2010

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

Autor Raymond, F. Lucy, Whibley, Annabel, Stratton, Michael R., Gecz, Jozef
Vydáno 2009

La FAM fatale: USP9X in development and disease

Autor Murtaza, Mariyam, Jolly, Lachlan A., Gecz, Jozef, Wood, Stephen A.
Vydáno v Cell Mol Life Sci (2015)

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

Autor Shoubridge, Cheryl, Gardner, Alison, Schwartz, Charles E, Hackett, Anna, Field, Michael, Gecz, Jozef
Vydáno 2012

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

Autor Mattiske, Tessa, Tan, May H., Dearsley, Oliver, Cloosterman, Desiree, Hii, Charles S., Gécz, Jozef, Shoubridge, Cheryl
Vydáno v PLoS One (2018)

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

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

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

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

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

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

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

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

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

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

A novel locus for X-linked congenital cataract on Xq24

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

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

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

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

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

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

Autor Brookes, Emily, Laurent, Benoit, Õunap, Katrin, Carroll, Renee, Moeschler, John B., Field, Michael, Schwartz, Charles E., Gecz, Jozef, Shi, Yang
Vydáno v 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...

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

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

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

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

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

Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome

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

Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome

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