C. Shoubridge

发表

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

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

Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene.

J. Gécz, C. Shoubridge, D. Cloosterman, 2007, Genomics.

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

J. Gécz, T. Kleefstra, G. Mancini, 2010, PathoGenetics.

Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity.

J. Gécz, A. Voss, T. Thomas, 2007, Gene expression patterns : GEP.

Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX

Soma Das, S. Topper, C. Shoubridge, 2015, European Journal of Human Genetics.

A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.

J. Gécz, F. Fusco, M. Miano, 2013, American Journal of Human Genetics.

M. Mangelsdorf, S. Stifani, V. Broccoli, 2007, Neuroscience.

Large Scale Gene Expression Meta-Analysis Reveals Tissue-Specific, Sex-Biased Gene Expression in Humans

T. Bianco-Miotto, C. Roberts, C. Shoubridge, 2016, Front. Genet..

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

J. Gécz, C. Shoubridge, C. Hii, 2018, PloS one.

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

J. Gécz, C. Shoubridge, R. Harvey, 2010, Small GTPases.

Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy

I. Scheffer, M. Cowley, M. Dinger, 2017, European Journal of Human Genetics.

The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

R. Pfundt, E. Kossoff, E. Leshinsky‐Silver, 2016, Epilepsia.

Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene.

J. Gécz, C. Shoubridge, G. Friocourt, 2016, Human molecular genetics.

IGFBP mRNA expression in small intestine of rat during postnatal development.

C. Shoubridge, L. Read, C. Steeb, 2001, American journal of physiology. Gastrointestinal and liver physiology.

X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia

F. Wong, C. Shoubridge, G. McGillivray, 2017, Child neurology open.

An Emerging Female Phenotype with Loss‐of‐Function Mutations in the Aristaless‐Related Homeodomain Transcription Factor ARX

L. Vissers, N. Thorne, C. Shoubridge, 2017, Human mutation.

ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression.

J. Gécz, C. Shoubridge, M. Tan, 2012, Human molecular genetics.

Degradation of IGF-I in the adult rat gastrointestinal tract is limited by a specific antiserum or the dietary protein casein.

C. Shoubridge, C. Xian, L. Read, 1995, The Journal of endocrinology.

Preferential intestinal delivery of long[Arg3] insulin-like growth factor (LR3IGF-I) over IGF-I in preweaning and adult rats.

C. Shoubridge, L. Read, 2003, Endocrinology.

Systemic infusion of IGF-I or LR(3)IGF-I stimulates visceral organ growth and proliferation of gut tissues in suckling rats.

C. Shoubridge, L. Read, D. Tivey, 1997, The American journal of physiology.

L. Pasquier, T. Dudding-Byth, C. Shoubridge, 2022, Clinical genetics.

Systemically but Not Orogastrically Delivered Insulin-Like Growth Factor (IGF)-I and Long [Arg3]IGF-I Stimulates Intestinal Disaccharidase Activity in Two Age Groups of Suckling Rats

C. Shoubridge, L. Read, D. Tivey, 1998, Pediatric Research.

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Andrew Menzies, Sarah Edkins, Sara Widaa, 2008, Nature Genetics.

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

J. Gécz, M. Stratton, P. Futreal, 2007, Nature Genetics.

The genetic landscape of intellectual disability arising from chromosome X.

J. Gécz, C. Shoubridge, M. Corbett, 2009, Trends in genetics : TIG.

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

J. Gécz, J. Fryns, T. Kleefstra, 2010, Molecular Psychiatry.

Polyalanine tract disorders and neurocognitive phenotypes.

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

Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes

J. Gécz, A. Zinn, M. Stratton, 2008, Human Genetics.

Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders

J. Gécz, N. Brunetti‐Pierri, B. Kamien, 2015, European Journal of Human Genetics.

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

M. Shaw, J. Gécz, M. Stratton, 2010, Nature Genetics.

Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability

J. Gécz, A. Addington, J. Rapoport, 2012, Molecular Psychiatry.

Enhancement of intestinal growth and repair by growth factors.

C. Shoubridge, G. Howarth, Gordon S. Howarth, 2001, Current opinion in pharmacology.

Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies

S. Mundlos, S. Kummerfeld, L. Hesson, 2021, Neurology.

Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene

Stephen W. Wilson, Thomas A. Hawkins, J. Gécz, 2015, Human Genetics.

Placental transcriptome co-expression analysis reveals conserved regulatory programs across gestation

T. Bianco-Miotto, K. Shankar, C. Roberts, 2017, BMC Genomics.

Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability

M. Shaw, J. Gécz, C. Schwartz, 2021, Human mutation.

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.

J. Gécz, S. Haas, H. Ropers, 2012, American journal of human genetics.

IQSEC2 mutation update and review of the female‐specific phenotype spectrum including intellectual disability and epilepsy

T. Dudding-Byth, C. Shoubridge, R. Harvey, 2018, Human mutation.

ARX spectrum disorders: making inroads into the molecular pathology

J. Gécz, C. Shoubridge, T. Fullston, 2010, Human mutation.

Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.

J. Gécz, C. Schwartz, M. Miano, 2019, Human molecular genetics.

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

K. Friend, A. Fortuna, C. Shoubridge, 2015, Molecular genetics & genomic medicine.

PCR amplification and sequence analysis of GC-rich sequences: Aristaless-related homeobox example.

J. Gécz, C. Shoubridge, M. Tan, 2013, Methods in molecular biology.

Production of a human epidermal growth factor fusion protein and its degradation in rat gastrointestinal flushings.

J. Wallace, Z. Upton, C. Shoubridge, 1996, Journal of Molecular Endocrinology.

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

I. Scheffer, E. Haan, J. Gécz, 2015, Human molecular genetics.

Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females

M. Shaw, J. Gécz, C. Shoubridge, 2019, Life Science Alliance.

Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis

C. Shoubridge, M. Field, L. Jolly, 2017, Translational Psychiatry.

dosage of IQSEC 2 , a known intellectual disability and epilepsy gene , disrupts dendritic spine morphogenesis

C. Shoubridge, M. Field, L. Jolly, 2017 .

ARX polyalanine expansion mutations lead to migration impediment in the rostral cortex coupled with a developmental deficit of calbindin-positive cortical GABAergic interneurons

C. Shoubridge, K. Lee, K. Ireland, 2017, Neuroscience.

Constraint and conservation of paired‐type homeodomains predicts the clinical outcome of missense variants of uncertain significance

A. V. Vulto-van Silfhout, R. Pfundt, M. Shaw, 2020, Human mutation.

Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation.

J. Gécz, C. Shoubridge, K. Kitamura, 2014, Human molecular genetics.

Challenges of "sticky" co-immunoprecipitation: polyalanine tract protein-protein interactions.

J. Gécz, C. Shoubridge, M. Tan, 2013, Methods in molecular biology.

Screening and cell‐based assessment of mutations in the Aristaless‐related homeobox (ARX) gene

J. Gécz, G. Baynam, C. Shoubridge, 2011, Clinical genetics.

Early 17β-estradiol treatment reduces seizures but not abnormal behaviour in mice with expanded polyalanine tracts in the Aristaless related homeobox gene (ARX)

J. Noebels, C. Shoubridge, T. Mattiske, 2021, Neurobiology of Disease.

Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy

B. Baune, E. Jaehne, C. Shoubridge, 2017, Neurobiology of Disease.

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

J. Gécz, C. Schwartz, C. Shoubridge, 2012, European Journal of Human Genetics.

Polyalanine expansions drive a shift into α-helical clusters without amyloid-fibril formation

James N. Hughes, A. Hill, C. Shoubridge, 2015, Nature Structural &Molecular Biology.

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

J. Gécz, J. Hettema, J. Fryns, 2010, Molecular Psychiatry.

Screening and cell‐based assessment of mutations in the Aristaless‐related homeobox (ARX) gene

J. Gécz, G. Baynam, C. Shoubridge, 2011, Clinical genetics.

Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation.

J. Gécz, C. Shoubridge, K. Kitamura, 2014, Human molecular genetics.

Polyalanine expansions drive a shift into -helical clusters without amyloid fibril formation.

C. Shoubridge, D. Hatters, T. Böcking, 2016 .

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Rebecca C. Spillmann, R. Pfundt, J. Gécz, 2023, The Journal of clinical investigation.

Splice variant in ARX leading to loss of C‐terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy

I. Scheffer, S. Berkovic, C. Shoubridge, 2019, American journal of medical genetics. Part A.