Jozef Gécz

Q: What Schools Are Affiliated With Jozef Gécz

Jozef Gécz is affiliated with the following schools: University of South Australia, University of Melbourne, University of Adelaide

Jozef Gécz's AcademicInfluence.com Rankings

Jozef Gécz

Biology

#13748

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#17312

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Genetics

#1551

World Rank

#1655

Historical Rank

Neuroscience

#2413

World Rank

#2478

Historical Rank

biology Degrees

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Biology

Jozef Gécz's Degrees

PhD Genetics University of Adelaide
Bachelors Genetics University of Adelaide

Why Is Jozef Gécz Influential?

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According to Wikipedia, Dr Jozef Gécz is a senior researcher at The University of Adelaide studying the various mutations of a small part of the X chromosome that lead to mental retardation. Gécz was elected Fellow of the Australian Academy of Health and Medical Sciences in 2015 and SA Scientist of the Year for 2019.

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Jozef Gécz's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. (2005) (615)
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation (2009) (582)
A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay (2010) (561)
Refining analyses of copy number variation identifies specific genes associated with developmental delay (2014) (536)
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. (2004) (458)
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy (2002) (424)
Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases (2017) (392)
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment (2008) (386)
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. (2005) (363)
Identification of the gene FMR2, associated with FRAXE mental retardation (1996) (303)
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. (2003) (296)
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. (2004) (295)
Mutations in DEPDC5 cause familial focal epilepsy with variable foci (2013) (291)
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. (2002) (277)
Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay. (2011) (271)
PHF6 mutations in T-cell acute lymphoblastic leukemia (2010) (264)
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation (2007) (248)
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes (2015) (229)
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. (2012) (228)
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. (2010) (224)
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort (2016) (218)
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. (2008) (212)
Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome (2002) (205)
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. (2008) (205)
The genetic landscape of intellectual disability arising from chromosome X. (2009) (201)
Cerebral palsy: causes, pathways, and the role of genetic variants. (2015) (201)
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. (2007) (199)
Rett syndrome: clinical review and genetic update (2005) (197)
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. (2016) (197)
Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX (2002) (197)
Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability (2010) (193)
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations (2014) (190)
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders (2018) (189)
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. (2015) (187)
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda (1999) (187)
Epilepsy and mental retardation limited to females: an under-recognized disorder. (2008) (180)
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene (2007) (175)
Early onset seizures and Rett-like features associated with mutations in CDKL5 (2005) (174)
COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A (2015) (172)
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. (2004) (170)
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy (2015) (167)
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. (2007) (160)
Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability (2015) (158)
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation (2003) (158)
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation (1999) (152)
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. (2008) (151)
ARX spectrum disorders: making inroads into the molecular pathology (2010) (148)
ARX: a gene for all seasons. (2006) (141)
La FAM fatale: USP9X in development and disease (2015) (140)
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability (2010) (139)
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID (2016) (133)
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. (2002) (128)
Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains (2017) (128)
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. (2006) (127)
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. (2003) (123)
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. (2016) (123)
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders. (2020) (121)
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. (2010) (120)
A UPF3-mediated regulatory switch that maintains RNA surveillance (2009) (120)
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. (2010) (120)
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. (2004) (119)
Defects in tRNA Anticodon Loop 2′‐O‐Methylation Are Implicated in Nonsyndromic X‐Linked Intellectual Disability due to Mutations in FTSJ1 (2015) (117)
The genetic basis of cerebral palsy (2017) (116)
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism (2010) (109)
Mutation frequencies of X‐linked mental retardation genes in families from the EuroMRX consortium (2007) (109)
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. (2013) (107)
Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. (2014) (106)
The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth. (2013) (105)
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes (2010) (104)
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy (2009) (104)
Nonsense-mediated mRNA decay: Inter-individual variability and human disease (2014) (103)
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction (2017) (102)
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. (2011) (101)
Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. (2006) (100)
Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability (2012) (99)
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans (2007) (99)
XNP mutation in a large family with Juberg-Marsidi syndrome (1996) (97)
Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients (2008) (92)
Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation. (1999) (91)
X-linked myoclonic epilepsy with spasticity and intellectual disability: Mutation in the homeobox gene ARX (2002) (90)
CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling. (2013) (89)
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency. (2015) (89)
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. (2012) (88)
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant (2015) (88)
Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome. (2016) (86)
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. (2006) (86)
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 (2019) (84)
Nonsyndromic X-linked mental retardation: where are the missing mutations? (2003) (84)
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy (2009) (83)
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. (2001) (83)
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families (2009) (81)
FOXP1 mutations cause intellectual disability and a recognizable phenotype (2013) (81)
Mouse orthologue of ARX, a gene mutated in several X‐linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons (2004) (79)
Evolution of the human X – a smart and sexy chromosome that controls speciation and development (2003) (78)
Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy (2017) (78)
Gene structure and subcellular localization of FMR2, a member of a new family of putative transcription activators. (1997) (77)
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. (2007) (77)
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. (2016) (75)
Loss of Usp9x Disrupts Cortical Architecture, Hippocampal Development and TGFβ-Mediated Axonogenesis (2013) (75)
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy (2020) (75)
Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient (1999) (74)
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 (2019) (73)
Genes for cognitive function: developments on the X. (2000) (72)
FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure (2009) (71)
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 (2017) (70)
Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males (2004) (70)
TBC1D24 genotype–phenotype correlation (2016) (70)
Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor (2007) (70)
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation (2005) (69)
The clinical picture of the Börjeson–Forssman–Lehmann syndrome in males and heterozygous females with PHF6 mutations (2004) (69)
X‐linked mild non‐syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3 (2003) (69)
Rare copy number variation in cerebral palsy (2013) (68)
Three new families with X‐linked mental retardation caused by the 428–451dup(24bp) mutation in ARX (2004) (68)
MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression (2008) (67)
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (2020) (67)
Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability. (2011) (67)
A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity (2018) (66)
Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase (2015) (66)
Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia. (1996) (66)
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. (2013) (65)
Cloning and characterization of a new human Xq13 gene, encoding a putative helicase. (1994) (64)
A ubiquitin-dependent signaling axis specific for ALKBH-mediated DNA dealkylation repair (2017) (64)
Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy (2019) (62)
FMR2 expression in families with FRAXE mental retardation. (1997) (61)
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy (2016) (58)
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. (2013) (58)
Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator (2001) (58)
Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein. (2004) (56)
Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE. (1995) (56)
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity. (2015) (54)
A Upf3b-mutant mouse model with behavioral and neurogenesis defects (2017) (53)
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. (2010) (53)
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation (2010) (52)
Mutation detection in FGFR2 craniosynostosis syndromes (1997) (51)
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations (2012) (51)
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability (2012) (50)
Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome. (2000) (50)
The FMR2 gene, FRAXE and non‐specific X‐linked mental retardation: clinical and molecular aspects (2000) (49)
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability. (2015) (49)
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. (2018) (49)
Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity. (2007) (49)
The Börjeson–Forssman–Lehman syndrome (BFLS, MIM #301900) (2006) (49)
Mutation screening in Börjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient (2005) (48)
Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene. (2007) (48)
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region (2007) (47)
Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice (2016) (47)
Identification of three novel SEDL mutations, including mutation in the rare, non‐canonical splice site of exon 4 (2003) (47)
New insights into Brunner syndrome and potential for targeted therapy (2016) (46)
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. (2018) (45)
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda. (2001) (44)
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions. (2006) (43)
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain. (2015) (43)
Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders (2015) (42)
Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda. (2000) (42)
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study (2016) (41)
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum (2016) (40)
Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversal. (2015) (40)
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A (2015) (39)
O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling (2018) (39)
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders (2019) (38)
Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders (2010) (38)
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. (2013) (37)
‘Big issues’ in neurodevelopment for children and adults with congenital heart disease (2019) (37)
Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3. (1994) (37)
FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3 (2014) (36)
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene (2005) (35)
Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response (2019) (35)
PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy (2018) (35)
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X) (2010) (35)
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C (2010) (34)
Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome (2003) (34)
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females (2016) (34)
Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay. (2012) (34)
Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division (2010) (34)
Reduced steroidogenesis in patients with PCDH19‐female limited epilepsy (2017) (34)
Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy (2018) (33)
Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability (2010) (33)
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling (2020) (33)
Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation (2002) (33)
TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation (2013) (32)
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment (2019) (32)
Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not. (2003) (31)
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform (2008) (31)
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems. (2015) (31)
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency (2017) (31)
Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2‐1 (2012) (30)
Targeted knockout of a chemokine-like gene increases anxiety and fear responses (2018) (30)
Screening and cell‐based assessment of mutations in the Aristaless‐related homeobox (ARX) gene (2011) (30)
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders (2021) (28)
A survey of rare epigenetic variation in 23,116 human genomes identifies disease-relevant epivariations and novel CGG expansions (2020) (28)
Glutamate receptors and learning and memory (2010) (28)
1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson–Forssman–Lehmann syndrome family (2004) (28)
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission (2019) (27)
Identification of an IGSF1‐specific deletion in a five‐generation pedigree with X‐linked Central Hypothyroidism without macroorchidism (2016) (27)
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis. (2015) (27)
Lessons learnt from large-scale exon re-sequencing of the X chromosome (2009) (27)
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1 (2011) (25)
PHF6 regulates hematopoietic stem and progenitor cells and its loss synergizes with expression of TLX3 to cause leukemia. (2019) (25)
Restoring reproductive confidence in families with X‐linked mental retardation by finding the causal mutation (2007) (24)
Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism (2018) (24)
An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase (2020) (24)
Assignment of a Polycomb-like chromobox gene (CBX2) to human chromosome 17q25. (1995) (24)
Severe childhood speech disorder: gene discovery highlights transcriptional dysregulation (2019) (24)
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders (2021) (24)
Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder. (2015) (23)
USP9X deubiquitylating enzyme maintains RAPTOR protein levels, mTORC1 signalling and proliferation in neural progenitors (2017) (23)
Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation (2007) (23)
A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations (2009) (23)
Clinical study of two brothers with a novel 33 bp duplication in the ARX gene (2009) (23)
FMR3 is a novel gene associated withFRAXE CpG island and transcriptionally silent in FRAXE full mutations (2000) (23)
The molecular basis of intellectual disability: novel genes with naturally occurring mutations causing altered gene expression in the brain. (2004) (23)
ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression. (2012) (22)
Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα) (2017) (22)
Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX (2003) (21)
Severe childhood speech disorder (2020) (21)
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder (2019) (21)
Targeted resequencing identifies genes with recurrent variation in cerebral palsy (2019) (21)
Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400) (2003) (21)
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2 (2016) (20)
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. (2017) (20)
In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy (2021) (20)
A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability (2012) (20)
Multiplex families with epilepsy (2016) (20)
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation (2018) (19)
NHS-A isoform of the NHS gene is a novel interactor of ZO-1. (2009) (19)
A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation (2002) (19)
Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes (2008) (19)
Polyalanine tract disorders and neurocognitive phenotypes. (2012) (19)
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression (2017) (18)
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay (2018) (18)
Characterisation and expression of a large, 13.7 kb FMR2 isoform. (1999) (18)
A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene. (2019) (18)
Partial Androgen Insensitivity Syndrome and t(X;5): Are There Upstream Regulatory Elements of the Androgen Receptor Gene? (2004) (18)
Physical and transcriptional mapping of DXS56-PGK1 1 Mb region: identification of three new transcripts. (1993) (18)
Erratum: Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome (American Journal of Human Genetics (2016) 99(4) (942–949) (S0002929716303275) (10.1016/j.ajhg.2016.08.004)) (2016) (18)
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy (2020) (18)
Construction of a YAC contig spanning the Xq13.3 subband. (1995) (18)
Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia (2011) (17)
Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation. (2014) (17)
Borjeson-Forssman-Lehmann Syndrome and Multiple Pituitary Hormone Deficiency (2003) (17)
Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females (2019) (16)
NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy. (2013) (16)
A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts (2016) (16)
Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders. (2019) (16)
Human disease genes website series: An international, open and dynamic library for up‐to‐date clinical information (2021) (15)
BDNF and DYRK1A Are Variable and Inversely Correlated in Lymphoblastoid Cell Lines from Down Syndrome Patients (2012) (15)
Missense variant contribution to USP9X-female syndrome (2020) (15)
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery (2018) (15)
Targeted Next Generation Sequencing Analysis of 1000 individuals with Intellectual Disability (2015) (15)
Definition and diagnosis of cerebral palsy in genetic studies: a systematic review (2020) (15)
Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1 (1999) (14)
Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene (2015) (14)
Cerebral palsy and genomics: an international consortium (2018) (14)
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability (2018) (14)
Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome. (2016) (14)
Functional characterization of GATA 3 mutations causing the hypoparathyroidism-deafness-renal ( HDR ) dysplasia syndrome : insight into mechanisms of DNA binding by the GATA 3 transcription factor (2007) (14)
Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics. (2020) (14)
Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy. (2020) (14)
Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome. (2015) (13)
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders. (2021) (13)
Disrupted Excitatory Synaptic Contacts and Altered Neuronal Network Activity Underpins the Neurological Phenotype in PCDH19-Clustering Epilepsy (PCDH19-CE) (2021) (13)
Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability. (2013) (12)
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families (2020) (12)
Regulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor (2018) (12)
PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum. (2020) (12)
Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation? (2012) (11)
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation (2012) (11)
The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects. (2000) (11)
X‐linked intellectual disability: Phenotypic expression in carrier females (2019) (11)
Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH. (2007) (10)
A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability (2016) (10)
Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction (2017) (10)
X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia (2017) (10)
PCR amplification of large VNTR alleles of D17S5 (YNZ22) locus. (1991) (10)
Genetics of the epilepsies: Genetic twists in the channels and other tales (2010) (9)
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing (2021) (9)
Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene. (2016) (9)
Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders (2019) (9)
EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. (2020) (9)
Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations. (2017) (9)
TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation (2004) (9)
A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks (2020) (8)
Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Börjeson-Forssman-Lehmann syndrome and MRX27. (2001) (8)
A genomic cause of cerebral palsy should not change the clinical classification (2018) (8)
Fine mapping and cloning of the breakpoint associated with Menkes syndrome in a female patient. (1992) (8)
A novel locus for X-linked congenital cataract on Xq24 (2008) (8)
Lack of FMR3 expression in a male with non-syndromic mental retardation and a microdeletion immediately distal to FRAXE CCG repeat (2006) (7)
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor (2020) (7)
Cyclin-Dependent Kinase-Like 5 ( CDKL 5 ) Mutation Screening in Rett Syndrome and Related Disorders (2010) (7)
UPF3B gene and nonsense-mediated mRNA decay in autism spectrum disorders (2014) (7)
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation (2010) (7)
Oligosaccharyltransferase subunits mutations in non-syndromic mental retardation (2007) (6)
PCR amplification and sequence analysis of GC-rich sequences: Aristaless-related homeobox example. (2013) (6)
FRA 2 A Is a CGG Repeat Expansion Associated with Silencing of AFF 3 (2014) (6)
RAB40AL loss-of-function mutation does not cause X-linked intellectual disability (2013) (6)
Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus? (2016) (6)
Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes.: WGS in transposition of the great arteries. (2021) (6)
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy (2022) (6)
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. (2019) (6)
Chromatin-Binding Protein PHF6 Regulates Activity-Dependent Transcriptional Networks to Promote Hunger Response. (2020) (6)
Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus (2021) (6)
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. (2021) (5)
A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32 (2010) (5)
Developmental disorders: deciphering exomes on a grand scale (2015) (5)
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (2020) (5)
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X (2022) (4)
P.1.20 GOSR2: A novel form of Congenital Muscular Dystrophy (2013) (4)
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders (2022) (4)
A multicenter, open-label trial of ganaxolone in children with PCDH19 epilepsy (P5.236) (2017) (4)
Distribution of ApoBII, MCT118 (D1S80), YNZ22 (D17S30), and COL2A1 Amp-FLPs (amplified fragment length polymorphisms) in Caucasoid population of Slovakia. (1994) (4)
“Blinders, phenotype, and fashionable genetic analysis”: Setting the record straight for epilepsy! (2011) (4)
Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders (2008) (4)
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity. (2022) (3)
UPF3B mutations including a novel synonymous variant associated with absent speech implicate nonsense mediated mRNA decay as a regulator of neurodevelopmental disorder gene networks. (2020) (3)
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features. (2020) (3)
Loss of FMR 2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability (2013) (3)
Developmental Abnormalities Due to Mutations in the Aristaless-Related Homeobox Gene (2016) (3)
Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay (2019) (3)
Great expectations: using massively parallel sequencing to solve inherited disorders (2010) (3)
A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract (2021) (3)
A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family (2009) (3)
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Oral Presentations (2020) (3)
Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy (2021) (3)
Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia (2004) (2)
Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy (2019) (2)
Frequency and distribution of deletions in dystrophin gene in Duchenne muscular dystrophy patients from an east-European Slavonic population. (1991) (2)
Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsy (2023) (2)
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice (2022) (2)
EXOME REPORT: Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion. (2020) (2)
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants (2021) (2)
Downregulation of the GHRH/GH/IGF-1 axis in a mouse model of Börjeson-Forssman-Lehman Syndrome. (2020) (2)
Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome (BFLS). (2021) (2)
Molecular genetics of X-linked mental retardation: a complex picture emerging (2001) (2)
New mutations and sporadic intellectual disability (2012) (2)
Robust imaging and gene delivery to study human lymphoblastoid cell lines (2018) (2)
Avascular necrosis of bone in childhood cancer patients: a possible role of genetic susceptibility. (2015) (2)
Survey of brain-expressed genes in a 7.3 mb region on proximal xp involved in non-syndromic X-linked mental retardation (2003) (2)
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder (2022) (2)
Cerebral palsy with autism and ADHD: time to pay attention (2020) (2)
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death (2023) (2)
Protocadherin 19 Clustering Epilepsy and Neurosteroids: Opportunities for Intervention (2021) (2)
The DUB Club: Deubiquitinating Enzymes and Neurodevelopmental Disorders (2022) (2)
Constraint and conservation of paired‐type homeodomains predicts the clinical outcome of missense variants of uncertain significance (2020) (1)
Review for "H258R mutation in KCNAB3 gene in a family with genetic epilepsy and febrile seizures plus" (2020) (1)
Massively parallel sequencing in >250 families with X-linked intellectual disability (2011) (1)
Targeted resequencing identifies genes with recurrent variation in cerebral palsy (2019) (1)
TaqI digestion of PCR product increases the informativity of St14 VNTR for the diagnosis of hemophilia A. (1993) (1)
Cerebral Palsy: Causes, Pathways, and the Role of Genetic Variants (2016) (1)
Nonsyndromal Mental Retardation Associated with the FRAXE Fragile Site and the FMR2 Gene (2003) (1)
University of Groningen De Novo Loss-of-Function Mutations in USP 9 X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations (2018) (1)
Simultaneous screening of the FRAXA and FRAXE loci for rapid detection of FMR1 CGG and/or AFF2 CCG repeat expansions by triplet-primed PCR. (2021) (1)
Overlapping submicroscopic deletions in Xq28 causing developmental disorders in two unrelated boys (1995) (1)
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort (2016) (1)
Review for "Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort" (2019) (1)
Erratum: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy (European Journal of Human Genetics (2009) vol. 17 (444-453) 10.1038/ejhg.2008.208) (2009) (1)
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. (2022) (1)
Next-generation sequencing in >240 families with X-linked intellectual disability (2013) (1)
Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes (2010) (1)
NMD‐deficient Upf3b‐null mice display behavioral and neuropathological defects (2012) (1)
Common data elements to standardize genomics studies in cerebral palsy (2022) (1)
Deletion ΔF508 and haplotype analysis of CFTR gene region in Slovak CF patients (1992) (1)
Protocadherin Mutations in Neurodevelopmental Disorders (2016) (1)
Deletion delta F508 and haplotype analysis of CFTR gene region in Slovak CF patients. (1992) (1)
Sarcosinemia (2020) (1)
Challenges of "sticky" co-immunoprecipitation: polyalanine tract protein-protein interactions. (2013) (1)
Fragile X Syndrome and other causes of X-Linked mental handicap (2007) (1)
Human RNA Nm-MTase FTSJ1: new tRNA targets and role in the regulation of brain-specific genes (1)
[Use of DNA analysis in the diagnosis and prevention of hemophilia A]. (1990) (1)
Mutations disrupting neuritogenesis genes represent a major independent risk factor for cerebral palsy (2020) (1)
Erratum: Fine mapping and cloning of the breakpoint associated with Menkes syndrome in a female patient (Genomics (1992) 14 (557-561)) (1993) (1)
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders (2021) (0)
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders (2018) (0)
Downregulation of the GHRH/GH/IGF-1 axis in a mouse model of Börjeson-Forssman-Lehman Syndrome. (2020) (0)
Non-Syndromic 46,XY Disorders of Sex Development (2018) (0)
Opitz-Kaveggia (FG) and Lujan syndromes are allelic having mutations in the MED12 gene (2007) (0)
Subject Index Vol. 99, 2002 (2003) (0)
Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy (2019) (0)
Announcements (2011) (0)
An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase (2020) (0)
Mutations in DEPDC5 : A major cause of familial focal epilepsy (2013) (0)
De novo and familial DDX3X mutations are associated with X-linked intellectual disability and a diverse phenotypic spectrum (2015) (0)
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder (2022) (0)
Search for mutations causing non-syndromic X-linked mental retardation (NS-XLMR) by high-throughput PCR based sequencing and mRNA expresssion profiling of candidate genes on prosimal Xp (2004) (0)
[Rapid prenatal diagnosis of cystic fibrosis using the polymerase chain reaction: results of the first 5 cases]. (1992) (0)
AFX mutations frequently cause X-linked mental retardation (2002) (0)
Systematic analysis and prediction of genes associated with disorders on chromosome X (2022) (0)
Mutations in human RAB39B gene are responsible for X-linked non-specific mental retardation (2009) (0)
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency (2017) (0)
A systematic review and meta-analysis of 271 PCDH19-variant individuals identi ﬁ es psychiatric comorbidities, and association of seizure onset and disease severity (2019) (0)
Endogenous protein interactomes resolved through immunoprecipitation-coupled quantitative proteomics in cell lines (2022) (0)
UvA-DARE ( Digital Academic Repository ) Mutation screening in Borjeson-Forssman-Lehmann syndrome : identification of a novel de novo PHF 6 mutation in a female patient (2006) (0)
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing (2021) (0)
Mutation screening of brain-expressed miRNA in patients with non-syndromic X-linked mental retardation (2006) (0)
An X-linked mental retardation resequencing array (2006) (0)
Transcriptional effects of mutations in the XLMR gene JARID1C (2007) (0)
Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene (2015) (0)
Allopregnanolone is reduced in patients with PCDH19-related epilepsy (2016) (0)
Materials and methods Samples (2018) (0)
Subject Index Vol. 100, 2003 (2003) (0)
Contents Vol. 99, 2002 (2003) (0)
Phenotype–genotype complexities: opening DOORS (2014) (0)
[Molecular genetic analysis of deletions in the Duchenne and Becker types of progressive muscular dystrophy]. (1993) (0)
The role of activating mutations in the common signalling subunit of the receptors for interieukin-3, interleukin-5 and granulocyte-macrophage colony stimulating factor in polycythemia vera. (2003) (0)
SEDL (SEDT) Gene (2002) (0)
gene MED12 missense mutation (p.N1007S) in the The original Lujan syndrome family has a novel (2008) (0)
Clinical features in patients with mutations in JARID1C (2005) (0)
Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay (2019) (0)
Identification and analysis of a novel gene causing the pleiotropic features of Nance–Horan Syndrome. (2004) (0)
Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy (2021) (0)
Overlapping Submicroscopic Deletions inXq28inTwo Unrelated BoyswithDevelopmental Disorders: Identification ofa GeneNearFRAXE (1995) (0)
[DNA diagnosis of hemophilia A in a family without an affected proband]. (1993) (0)
retardation2.3) and non-syndromic mental a female patient with an X;autosome translocation ) gene in ZNF741 ( KLF8 Abnormal expression of the (2008) (0)
Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability (2021) (0)
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare. (2023) (0)
The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance (2021) (0)
[DNA analysis as a method for the prevention of cystic fibrosis]. (1988) (0)
Genetics of Familial Adult Myoclonus Epilepsy: From linkage studies to non-coding repeat expansions. (2023) (0)
A study of "Chromatin-binding protein PHF6 regulates activity-dependent transcriptional networks to promote hunger response". Gan et. al (2020) (0)
Disruption of ARHGEF9 is associated with cognitive deficits: identification oa a new candidate for x-linked mental retardation (2006) (0)
Evaluation of an X-linked mental retardation resequencing array (2007) (0)
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants (2021) (0)
Direct cDNA Selection Using Human and Mouse cDNAs: Application to Xq13.3 Chromosomal Region (1994) (0)
Transactivation of cell lines for functional genomic studies (2023) (0)
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2 (2016) (0)
Erratum: Identification and characterization of two novel JARID1C mutations: Suggestion of an emerging genotype-phenotype correlation (European Journal of Human Genetics (2010) 18 (330-335) DOI: 10.1038/ejhg.2009.175) (2012) (0)
Preface (2003) (0)
[The delta F508 mutation which causes cystic fibrosis and its association with closely linked DNA polymorphisms in the Slovak population]. (1992) (0)
Spectrum of Neurological Phenotypes Caused by ARX Mutations (2003) (0)
People with Cerebral Palsy and Their Family’s Preferences about Genomics Research (2021) (0)
Unravelling the pathogenesis of the ARX homeobox mutations; role of IPO13 (2009) (0)
ZNF674: a new KRAB-containing zinc finger gene involved in non-syndromic X-linked mental retardation (2006) (0)
BDNF and DYRK1A Are Variable and Inversely Correlated in Lymphoblastoid Cell Lines from Down Syndrome Patients (2012) (0)
USP9X deubiquitylating enzyme maintains RAPTOR protein levels, mTORC1 signalling and proliferation in neural progenitors (2017) (0)
Identification and characterization of new mental retardation genes linked to the X chromosome (2005) (0)
Spectrum of Neurological Phenotypes Caused by ARX Mutations (2003) (0)
La FAM fatale: USP9X in development and disease (2015) (0)
Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy (2018) (0)
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases (2017) (0)
University of Dundee An intellectual disability syndrome with single nucleotide variants in O-GlcNAc Transferase Pravata, (2020) (0)
Familial Adult Myoclonic Epilepsy, Caused By A Pentanucleotide Repeat TTTCA Insertion In SAMD12, In Indian And Sri Lankan Families Extends The Occurrence Of This Mutation To A Wide Region Of Southern Asia (2019) (0)
Identification of a novel complex required for WASH-dependent receptor trafficking (2014) (0)
Identical by descent L 1 CAM mutation in two apparently unrelated families with intellectual disability without L 1 syndrome (2015) (0)
Frequency of cystic fibrosis mutations and associated haplotype distribution in Slovak CF patients. (1991) (0)
Reply to Dr Wei How Lim (2016) (0)
Mutations in Depdc5 Are a Major Cause of Lesional and Non-Lesional Focal Epilepsy (2014) (0)
Mutations in DEPDC5 (2013) (0)
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay (2018) (0)
Robust imaging and gene delivery to study human lymphoblastoid cell lines (2018) (0)
JARID1C, a novel gene involved in X-linked mental retardation, is frequently mutated (2005) (0)
Scheie syndrome (2020) (0)
A Locus for Congenital Cataract Maps to Chromosome Xq (2003) (0)
[Identification of a de novo mutation in a factor FVIII:C gene in a family requesting prenatal diagnosis of hemophilia A]. (1992) (0)
Haplotype analysis of the CFTR gene region and the proportion of delta F508 deletion in Slovak patients with cystic fibrosis. (1992) (0)
Contents Vol. 100, 2003 (2003) (0)

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