Jozef Gecz

发表

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.

Andrew Menzies, Keiran Raine, Sarah Edkins, 2007, American journal of human genetics.

Polyalanine tract disorders and neurocognitive phenotypes.

Cheryl Shoubridge, J. Gécz, C. Shoubridge, 2012, Advances in experimental medicine and biology.

Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability

Tao Wang, Emil Alexov, Brent Weatherly, 2017, The Journal of Biological Chemistry.

PHF6 mutations in T-cell acute lymphoblastic leukemia

Rob Pieters, Raul Rabadan, Frank Speleman, 2010, Nature Genetics.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Klaus Lehnert, Holger Lerche, Annapurna Poduri, 2018, American journal of human genetics.

Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay.

Rachid Karam, Anjana Bhardwaj, J. Gécz, 2011, Molecular cell.

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.

Andrew Menzies, Keiran Raine, Sarah Edkins, 2007, American journal of human genetics.

Targeted Next Generation Sequencing Analysis of 1000 individuals with Intellectual Disability

Roger E. Stevenson, Alessandra Renieri, Bernard Keavney, 2015 .

Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response

Melanie Bahlo, Bo T. Porse, Ola Larsson, 2019, Neuron.

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.

Melanie Bahlo, Bastiaan R Bloem, Luke C Gandolfo, 2011, American journal of human genetics.

Disruption at the Ptchd1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability Nih Public Access

Chi-Chung Hui, Andre Franke, Geraldine Dawson, 2010 .

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Andrew Menzies, Sarah Edkins, Sara Widaa, 2009, Nature Genetics.

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

François Dubeau, Frederick Andermann, Samuel F. Berkovic, 2013, Nature Genetics.

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

Caroline F. Wright, Nicholas G. Martin, Helen V. Firth, 2018, Nature.

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.

Sander B Nabuurs, Lionel Willatt, Jamel Chelly, 2006, American journal of human genetics.

Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

Alessandra Renieri, Bernard Keavney, Michael Field, 2015, Human mutation.

Defects in tRNA Anticodon Loop 2′‐O‐Methylation Are Implicated in Nonsyndromic X‐Linked Intellectual Disability due to Mutations in FTSJ1

Zornitza Stark, Katherine Rose, Marie Shaw, 2015, Human mutation.

Cerebral palsy and genomics: an international consortium

Gareth Baynam, Richard F Wintle, J. Gécz, 2018, Developmental medicine and child neurology.

Cerebral palsy: causes, pathways, and the role of genetic variants.

J. Gécz, A. Maclennan, Jozef Gecz, 2015, American journal of obstetrics and gynecology.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Tommaso Pippucci, Josemir W. Sander, Edouard Hirsch, 2019, Nature Communications.

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans

Tao Wang, Gavin Rumbaugh, Lilei Zhang, 2007, Proceedings of the National Academy of Sciences.

Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation.

J. Gécz, M. Mangelsdorf, M. Partington, 2002, American journal of medical genetics.

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

John Hutson, Alicia Oshlack, Tiong Yang Tan, 2016, Genome Biology.

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

Michael R Stratton, N. Brown, I. Scheffer, 2009, Journal of Medical Genetics.

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Thomas Bourgeron, Christopher Schröder, Bernhard Horsthemke, 2019, Nature Communications.

Characterisation and expression of a large, 13.7 kb FMR2 isoform.

J. Gécz, J. Mulley, Jozef Gecz, 1999, European Journal of Human Genetics.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.