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

מאת Nguyen, Lam Son, Wilkinson, Miles, Gecz, Jozef
יצא לאור 2013

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

מאת Shoubridge, Cheryl, Walikonis, Randall S, Gécz, Jozef, Harvey, Robert J
יצא לאור 2010

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

מאת Raymond, F. Lucy, Whibley, Annabel, Stratton, Michael R., Gecz, Jozef
יצא לאור 2009

La FAM fatale: USP9X in development and disease

מאת Murtaza, Mariyam, Jolly, Lachlan A., Gecz, Jozef, Wood, Stephen A.
הוצא לאור ב Cell Mol Life Sci (2015)

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

מאת Shoubridge, Cheryl, Gardner, Alison, Schwartz, Charles E, Hackett, Anna, Field, Michael, Gecz, Jozef
יצא לאור 2012

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

מאת Mattiske, Tessa, Tan, May H., Dearsley, Oliver, Cloosterman, Desiree, Hii, Charles S., Gécz, Jozef, Shoubridge, Cheryl
הוצא לאור ב PLoS One (2018)

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

מאת Carroll, Renée, Kumar, Raman, Shaw, Marie, Slee, Jennie, Kalscheuer, Vera M, Corbett, Mark A, Gecz, Jozef
הוצא לאור ב Eur J Hum Genet (2017)

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

מאת Christophe-Hobertus, Christiane, Kooy, Frank, Gecz, Jozef, Abramowicz, Marc J, Holinski-Feder, Elke, Schwartz, Charles, Christophe, Daniel
יצא לאור 2004

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

מאת Fullston, Tod, Brueton, Louise, Willis, Tracey, Philip, Sunny, MacPherson, Lesley, Finnis, Merran, Gecz, Jozef, Morton, Jenny
יצא לאור 2010

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

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

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

מאת Kolc, Kristy L, Sadleir, Lynette G, Scheffer, Ingrid E, Ivancevic, Atma, Roberts, Rachel, Pham, Duyen H, Gecz, Jozef
הוצא לאור ב Mol Psychiatry (2018)

A novel locus for X-linked congenital cataract on Xq24

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

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

מאת Hattersley, Kathryn, Laurie, Kate J, Liebelt, Jan E, Gecz, Jozef, Durkin, Shane R, Craig, Jamie E, Burdon, Kathryn P
יצא לאור 2010

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

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

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

מאת Brookes, Emily, Laurent, Benoit, Õunap, Katrin, Carroll, Renee, Moeschler, John B., Field, Michael, Schwartz, Charles E., Gecz, Jozef, Shi, Yang
הוצא לאור ב 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...

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

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

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

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

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

Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome

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

Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome

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