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

Bằng Nguyen, Lam Son, Wilkinson, Miles, Gecz, Jozef
Được phát hành 2013

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

Bằng Shoubridge, Cheryl, Walikonis, Randall S, Gécz, Jozef, Harvey, Robert J
Được phát hành 2010

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

Bằng Raymond, F. Lucy, Whibley, Annabel, Stratton, Michael R., Gecz, Jozef
Được phát hành 2009

La FAM fatale: USP9X in development and disease

Bằng Murtaza, Mariyam, Jolly, Lachlan A., Gecz, Jozef, Wood, Stephen A.
Xuất bản năm Cell Mol Life Sci (2015)

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

Bằng Shoubridge, Cheryl, Gardner, Alison, Schwartz, Charles E, Hackett, Anna, Field, Michael, Gecz, Jozef
Được phát hành 2012

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

Bằng Mattiske, Tessa, Tan, May H., Dearsley, Oliver, Cloosterman, Desiree, Hii, Charles S., Gécz, Jozef, Shoubridge, Cheryl
Xuất bản năm PLoS One (2018)

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

Bằng Carroll, Renée, Kumar, Raman, Shaw, Marie, Slee, Jennie, Kalscheuer, Vera M, Corbett, Mark A, Gecz, Jozef
Xuất bản năm Eur J Hum Genet (2017)

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

Bằng Christophe-Hobertus, Christiane, Kooy, Frank, Gecz, Jozef, Abramowicz, Marc J, Holinski-Feder, Elke, Schwartz, Charles, Christophe, Daniel
Được phát hành 2004

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

Bằng Fullston, Tod, Brueton, Louise, Willis, Tracey, Philip, Sunny, MacPherson, Lesley, Finnis, Merran, Gecz, Jozef, Morton, Jenny
Được phát hành 2010

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

Bằng Stegeman, Shane, Jolly, Lachlan A., Premarathne, Susitha, Gecz, Jozef, Richards, Linda J., Mackay-Sim, Alan, Wood, Stephen A.
Được phát hành 2013

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

Bằng Kolc, Kristy L, Sadleir, Lynette G, Scheffer, Ingrid E, Ivancevic, Atma, Roberts, Rachel, Pham, Duyen H, Gecz, Jozef
Xuất bản năm Mol Psychiatry (2018)

A novel locus for X-linked congenital cataract on Xq24

Bằng Craig, Jamie E., Friend, Kathryn L., Gecz, Jozef, Rattray, Kate M, Troski, Mark, Mackey, David A., Burdon, Kathryn P.
Được phát hành 2008

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

Bằng Hattersley, Kathryn, Laurie, Kate J, Liebelt, Jan E, Gecz, Jozef, Durkin, Shane R, Craig, Jamie E, Burdon, Kathryn P
Được phát hành 2010

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

Bằng Bensaid, Mounia, Melko, Mireille, Bechara, Elias G., Davidovic, Laetitia, Berretta, Antonio, Catania, Maria Vincenza, Gecz, Jozef, Lalli, Enzo, Bardoni, Barbara
Được phát hành 2009

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

Bằng Brookes, Emily, Laurent, Benoit, Õunap, Katrin, Carroll, Renee, Moeschler, John B., Field, Michael, Schwartz, Charles E., Gecz, Jozef, Shi, Yang
Xuất bản năm 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...

Bằng Shoubridge, Cheryl, Tan, May Huey, Fullston, Tod, Cloosterman, Desiree, Coman, David, McGillivray, George, Mancini, Grazia M, Kleefstra, Tjitske, Gécz, Jozef
Được phát hành 2010

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

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

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

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

Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome

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

Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome

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