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Authors: Jozef Gecz
Journal Article
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40
in
Brain
Brain, Volume 146, Issue 12, December 2023, Pages 5086–5097, https://doi.org/10.1093/brain/awad314
Published: 18 November 2023
Journal Article
Macrocephaly and developmental delay caused by missense variants in RAB5C
Human Molecular Genetics, Volume 32, Issue 21, 1 November 2023, Pages 3063–3077, https://doi.org/10.1093/hmg/ddad130
Published: 08 August 2023
Journal Article
In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy
in
Brain
Brain, Volume 145, Issue 1, January 2022, Pages 119–141, https://doi.org/10.1093/brain/awab209
Published: 02 June 2021
Journal Article
Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson–Forssman–Lehmann Syndrome
Human Molecular Genetics, Volume 30, Issue 7, 1 April 2021, Pages 575–594, https://doi.org/10.1093/hmg/ddab081
Published: 26 March 2021
Journal Article
A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks
Human Molecular Genetics, Volume 29, Issue 15, 1 August 2020, Pages 2568–2578, https://doi.org/10.1093/hmg/ddaa151
Published: 16 July 2020
Journal Article
Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders
Human Molecular Genetics, Volume 28, Issue 24, 15 December 2019, Pages 4089–4102, https://doi.org/10.1093/hmg/ddz254
Published: 06 November 2019
Includes: Multimedia
Journal Article
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability
Human Molecular Genetics, Volume 28, Issue 6, 15 March 2019, Pages 952–960, https://doi.org/10.1093/hmg/ddy391
Published: 21 November 2018
Journal Article
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation
Human Molecular Genetics, Volume 28, Issue 4, 15 February 2019, Pages 598–614, https://doi.org/10.1093/hmg/ddy371
Published: 17 October 2018
Journal Article
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression
Human Molecular Genetics, Volume 26, Issue 11, 1 June 2017, Pages 2062–2075, https://doi.org/10.1093/hmg/ddx099
Published: 24 March 2017
Journal Article
Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα)
Human Molecular Genetics, Volume 26, Issue 11, 1 June 2017, Pages 2042–2052, https://doi.org/10.1093/hmg/ddx094
Published: 17 March 2017
Journal Article
Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene
Human Molecular Genetics, Volume 25, Issue 24, 15 December 2016, Pages 5433–5443, https://doi.org/10.1093/hmg/ddw360
Published: 25 October 2016
Journal Article
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems
Human Molecular Genetics, Volume 24, Issue 25, 20 December 2015, Pages 7171–7181, https://doi.org/10.1093/hmg/ddv414
Published: 06 October 2015
Journal Article
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency
Human Molecular Genetics, Volume 24, Issue 18, September 2015, Pages 5250–5259, https://doi.org/10.1093/hmg/ddv245
Published: 29 June 2015
Journal Article
Interchromosomal Insertional Translocation at Xq26.3 Alters SOX3 Expression in an Individual With XX Male Sex Reversal Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 100, Issue 5, 1 May 2015, Pages E815–E820, https://doi.org/10.1210/jc.2014-4383
Published: 01 May 2015
Journal Article
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain Get access
Human Molecular Genetics, Volume 24, Issue 12, 15 June 2015, Pages 3335–3347, https://doi.org/10.1093/hmg/ddv083
Published: 03 March 2015
Journal Article
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity Get access
Human Molecular Genetics, Volume 24, Issue 10, 15 May 2015, Pages 2861–2872, https://doi.org/10.1093/hmg/ddv046
Published: 09 February 2015
Journal Article
Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder Get access
Human Molecular Genetics, Volume 24, Issue 7, 1 April 2015, Pages 2000–2010, https://doi.org/10.1093/hmg/ddu614
Published: 11 December 2014
Journal Article
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis Get access
Human Molecular Genetics, Volume 24, Issue 4, 15 February 2015, Pages 1106–1118, https://doi.org/10.1093/hmg/ddu523
Published: 09 October 2014
Journal Article
Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation Get access
Human Molecular Genetics, Volume 23, Issue 4, 15 February 2014, Pages 1084–1094, https://doi.org/10.1093/hmg/ddt503
Published: 10 October 2013
Journal Article
The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth Get access
Human Molecular Genetics, Volume 22, Issue 23, 1 December 2013, Pages 4673–4687, https://doi.org/10.1093/hmg/ddt315
Published: 02 July 2013
