E. Thompson

发表

Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies.

E. Haan, L. Hinton, G. Sutherland, 2002, American journal of medical genetics.

Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development

A. Sinclair, L. Looijenga, R. Hersmus, 2017, Human mutation.

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Richard A Marini, W. T. Harvey, Bradley P. Coe, 2020, Nature Communications.

Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis

Nick C Fox, Alan J. Thomas, D. Hernandez, 2020, Scientific Reports.

Pedigree with frontotemporal lobar degeneration – motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9

P. Schofield, G. Halliday, W. Brooks, 2008, BMC neurology.

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements

F. Rivier, A. Destrée, C. Philippe, 2012, European Journal of Human Genetics.

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.

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia.

Nick C. Fox, Pietro Pietrini, Alexander Gerhard, 2018, Nature Medicine.

Novel and recurrent mutations in the C‐terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia – multiple epiphyseal dysplasia disease group

G. Mortier, J. Bella, M. Wright, 2005, Human mutation.

Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

M. Nalls, A. Ramasamy, P. Pietrini, 2019, Scientific Reports.

C9ORF72 Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients

E. Haan, P. Schofield, W. Brooks, 2013, PloS one.

Hereditary non‐polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations

A. Spigelman, C. Meldrum, E. Thompson, 2004, Clinical genetics.

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Richard A Marini, W. T. Harvey, B. Coe, 2020, Nature Communications.

Familial 22q11.2 duplication: a three‐generation family with a 3‐Mb duplication and a familial 1.5‐Mb duplication

S. Yu, J. Liebelt, E. Thompson, 2007, Clinical genetics.

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

John Hutson, Alicia Oshlack, Tiong Yang Tan, 2016, Genome Biology.

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Kali T. Witherspoon, Bradley P. Coe, J. Shendure, 2014, Nature Genetics.

Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains

Bradley P. Coe, B. Coe, K. Friend, 2017, Nature Neuroscience.

Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

Alessandra Renieri, Bernard Keavney, Michael Field, 2015, Human mutation.

Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda

J. Gécz, D. Sillence, J. Mulley, 1999, Nature Genetics.

Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH

K. Friend, E. Haan, J. Mulley, 2014, Pathology.

Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes

Nick C Fox, Alan J. Thomas, D. Hernandez, 2021, Biological Psychiatry.

Detection Of Chromosomal Instability And Subtelomeric Rearrangements In Sick Neonate And Children With Multiple Congenital Malformations

E. Haan, L. Shaffer, L. Hinton, 2015 .

A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology

E. Haan, B. Talseth-Palmer, C. Meldrum, 2009, Cytogenetic and Genome Research.

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

Wolfgang Müller-Felber, Arnold Munnich, Laurence Hubert, 2010, Human mutation.

High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

A. Wagner, R. Kuiper, M. Ligtenberg, 2018, Clinical Cancer Research.

Mutation detection in FGFR2 craniosynostosis syndromes

E. Haan, J. Gécz, J. Mulley, 1997, Human Genetics.

Targeted Next Generation Sequencing Analysis of 1000 individuals with Intellectual Disability

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

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

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

Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH

K. Friend, E. Haan, J. Mulley, 2013, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric 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.

across RNA cell death gene networks is implicated in the semantic variant of primary progressive aphasia.

L. Ferrucci, A. Ramasamy, E. Haan, 2019 .

Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS

E. Haan, P. Pietrini, R. Petersen, 2017, Scientific Reports.

Immune-related genetic enrichment in frontotemporal dementia

D. Hernandez, M. Nalls, L. Ferrucci, 2017, bioRxiv.

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.

Shankaracharya, J. Hodges, J. Fullerton, 2020, Brain : a journal of neurology.

Frontotemporal dementia and its subtypes: a genome-wide association study

Alexander Gerhard, Adrian Danek, Luigi Ferrucci, 2014, The Lancet Neurology.

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

E. Haan, A. Buckle, Meredith Wilson, 2018, Clinical Epigenetics.

CAG repeat expansion in autosomal dominant familial spastic paraparesis: novel expansion in a subset of patients.

R I Richards, T D Bird, K. Friend, 1998, Human molecular genetics.

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia.

Nick C Fox, Alan J. Thomas, D. Hernandez, 2018, Nature Medicine.

Frontotemporal dementia–amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1–q12.2: genetic, clinical and neuropathological analysis

J. Fullerton, P. Schofield, G. Halliday, 2013, Acta Neuropathologica.

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

Nick C Fox, Alan J. Thomas, D. Hernandez, 2018, Brain : a journal of neurology.

Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS

Nick C Fox, D. Hernandez, M. Nalls, 2017, Scientific Reports.

CXCR4 involvement in neurodegenerative diseases

O. Andreassen, G. Schellenberg, A. Dale, 2017, bioRxiv.

Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

P. Pietrini, R. Desikan, J. Trojanowski, 2019, Scientific Reports.

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

J. Gécz, A. Sinclair, C. Kimber, 2016, Genome Biology.