A. Hackett

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.

Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability

B. D. de Vries, B. Lovell, H. Brunner, 2017, BMC Biotechnology.

Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders

J. Gécz, P. Tarpey, C. Skinner, 2019, Molecular genetics & genomic medicine.

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

F. McKenzie, J. Christodoulou, A. Darmanian, 2012, European Journal of Human Genetics.

Cerebellar volume mediates the relationship between FMR1 mRNA levels and voluntary step initiation in males with the premutation

S. Lord, J. Trollor, W. Wen, 2017, Neurobiology of Aging.

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

J. Gécz, Wei Chen, R. Reinhardt, 2011, European Journal of Human Genetics.

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

M. Shaw, J. Gécz, M. Stratton, 2010, European Journal of Human Genetics.

CCDC22: a novel candidate gene for syndromic X-linked intellectual disability

K. Friend, E. Haan, J. Gécz, 2012, Molecular Psychiatry.

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation

J. Gécz, M. Stratton, P. Futreal, 2010, European Journal of Human Genetics.

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

M. Cowley, M. Dinger, A. Minoche, 2022, European Journal of Human Genetics.

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Katherine R. Smith, P. Lockhart, D. Zee, 2019, American journal of human genetics.

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

Peter Marynen, Rodney Scott, Patrick S Tarpey, 2008, American journal of human genetics.

Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability

I. Scheffer, Anand Vasudevan, K. Oliver, 2022, European Journal of Human Genetics.

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.

M. Hurles, D. Grozeva, Soo-Mi Park, 2014, American journal of human genetics.

Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.

V. Sheffield, M. Batterbury, E. Stone, 2001, Human molecular 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.

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Kali T. Witherspoon, Bradley P. Coe, B. Coe, 2017, European 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.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

L. Vissers, B. D. de Vries, E. Eichler, 2008, Journal of Medical Genetics.

Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.

J. Gécz, Y. Humeau, P. Billuart, 2015, Human molecular genetics.

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

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

J. Gécz, A. Epanchintsev, C. Skinner, 2017, Human molecular 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.

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Melanie Bahlo, Elsdon Storey, David Valle, 2019, American journal of human genetics.

FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report

A. Hackett, L. Rowe, 2006, Clinical dysmorphology.

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.

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.

A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation

K. Friend, M. Shaw, J. Gécz, 2018, Human molecular genetics.

Targeted Next Generation Sequencing Analysis of 1000 individuals with Intellectual Disability

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

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

J. Gécz, M. Bitner-Glindzicz, J. Tolmie, 2006, Human molecular genetics.

Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients

E. Haan, D. David, I. Glass, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C

J. Gécz, H. Ropers, J. Fryns, 2010, PathoGenetics.

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.

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

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

Refinement of genotype‐phenotype correlation in 18 patients carrying a 1q24q25 deletion

Z. Tümer, H. Stewart, C. Ruivenkamp, 2015, American journal of medical genetics. Part A.

n of 1 trial for an ornithine transcarbamylase deficiency carrier.

A. Hackett, B. Wilcken, J. Gillard, 2008, Molecular genetics and metabolism.

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

K. Friend, J. Gécz, M. Stratton, 2015, Journal of Medical Genetics.

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.

A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

K. Friend, M. Shaw, J. Gécz, 2016, European Journal of Human Genetics.

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

N. Freimer, T. Hudson, E. Silverman, 2007 .

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 .

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

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

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

M. Shaw, J. Gécz, M. Stratton, 2010, American journal of human genetics.

Validation of new tools to identify expanded repeats: an intronic pentamer expansion in RFC1 causes CANVAS

Melanie Bahlo, Elsdon Storey, David Valle, 2019, bioRxiv.

Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis

Y. Humeau, P. Billuart, R. Kooy, 2015 .