A. Gardner

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.

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.

B. V. van Bon, K. Friend, M. Shaw, 2015, American journal of human genetics.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

CBFA 2 T 3 ( MTG 16 ) Is a Putative Breast Tumor Suppressor Gene from the Breast Cancer Loss of Heterozygosity Region at 16 q 24 . 31

N. O’Callaghan, G. Secker, Julie M Martin, 2002 .

CBFA2T3 (MTG16) is a putative breast tumor suppressor gene from the breast cancer loss of heterozygosity region at 16q24.3.

N. O’Callaghan, G. Secker, Julie M Martin, 2002, Cancer research.

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.

J. Rosenfeld, B. V. van Bon, K. Friend, 2015, Human molecular genetics.

NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy.

E. Haan, J. Gécz, A. Maclennan, 2013, European journal of medical genetics.

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

M. Shaw, J. Gécz, P. Tarpey, 2016, BMJ Open.

Sequencing, transcript identification, and quantitative gene expression profiling in the breast cancer loss of heterozygosity region 16q24.3 reveal three potential tumor-suppressor genes.

N. Doggett, G. Sutherland, D. Callen, 2002, Genomics.

The spectrum of SCN1A-related infantile epileptic encephalopathies.

I. Scheffer, F. Andermann, S. Berkovic, 2007, Brain : a journal of neurology.

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

James N. Hughes, I. Scheffer, E. Haan, 2012, American journal of human genetics.

Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing

J. Gécz, L. Pérez-Jurado, A. Maclennan, 2021, NPJ genomic medicine.

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.

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy

R A Gibbs, B. V. van Bon, E. Haan, 2015, Molecular Psychiatry.

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

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

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

J. Gécz, G. Jackson, S. Berkovic, 2010, American journal of human genetics.

Aberrant CBFA2T3B gene promoter methylation in breast tumors

G. Sutherland, D. Callen, A. Gardner, 2004, Molecular Cancer.

Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing

A. Minoche, M. Corbett, A. Gardner, 2021, npj Genomic Medicine.

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

J. Rosenfeld, M. Shaw, E. Haan, 2013, American journal of human genetics.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

J. Rosenfeld, R. Pfundt, M. Shaw, 2018, American 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.

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.

Identification of an IGSF1‐specific deletion in a five‐generation pedigree with X‐linked Central Hypothyroidism without macroorchidism

James N. Hughes, J. Gécz, A. Gardner, 2016, Clinical endocrinology.

Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse

L. Matthews, T. Strachan, J. Goodship, 1998, Nature Genetics.

The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene

J. Mulley, D. Callen, A. Gardner, 2004, Journal of Human Genetics.

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.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

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

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

Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.

I. Scheffer, J. Gécz, G. Jackson, 2017, European journal of medical genetics.

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.

M. Shaw, J. Gécz, F. McKenzie, 2020, European journal of medical genetics.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2023, Nature Medicine.

Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism

B. V. van Bon, J. Gécz, A. Maclennan, 2018, Translational Psychiatry.

Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

J. Gécz, K. Woodward, L. Pérez-Jurado, 2018, npj Genomic Medicine.

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.

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

K. Friend, I. Scheffer, M. Shaw, 2012, European Journal of Human Genetics.

Materials and methods Samples

J. Gécz, A. Maclennan, M. Corbett, 2018 .

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

H. Mefford, J. Gécz, T. Strom, 2018, Human mutation.

Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome.

M. Shaw, E. Haan, J. Gécz, 2015, European journal of medical genetics.

EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities.

I. Scheffer, M. Shaw, J. Gécz, 2020, European journal of medical 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.

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.

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

J. Gécz, C. Marshall, M. Tarnopolsky, 2020, Frontiers in Molecular Neuroscience.

Missense variant contribution to USP9X-female syndrome

M. Shaw, J. Gécz, L. Pérez-Jurado, 2020, npj Genomic Medicine.

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.

Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus

I. Scheffer, J. Gécz, M. Sperling, 2021, Neurology.

Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants

I. Scheffer, J. Gécz, S. Robertson, 2021, Human mutation.

Aicardi Syndrome Is a Genetically Heterogeneous Disorder

I. Scheffer, J. Gécz, L. Richards, 2023, Genes.

Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

J. Gécz, K. Woodward, L. Pérez-Jurado, 2018 .

Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein.

G. Sutherland, D. Callen, A. Savoia, 2001, Genomics.

Identical by descent L 1 CAM mutation in two apparently unrelated families with intellectual disability without L 1 syndrome

E. Haan, J. Gécz, M. Bahlo, 2015 .

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

I. Scheffer, S. Berkovic, D. Lev, 2001, American journal of human genetics.

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

I. Scheffer, J. Gécz, F. Dubeau, 2013, Nature Genetics.

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

James N. Hughes, I. Scheffer, E. Haan, 2012, American journal of human genetics.