J. Vogt

发表

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

S. Scherer, J. Rosenfeld, A. V. Vulto-van Silfhout, 2016, Molecular Psychiatry.

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

William J. Astle, Dorothy A. Thompson, Sri V. V. Deevi, 2018, American journal of human genetics.

2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Alessandro, G. J. Swaminathan, A. Green, 2019 .

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

Unique Case of Helicobacter sp. Osteomyelitis in an Immunocompetent Child Diagnosed by Broad-Range 16S PCR

N. Klein, K. Harris, J. Vogt, 2002, Journal of Clinical Microbiology.

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

L. Lagae, A. Vanderver, K. Devriendt, 2015, American journal of medical genetics. Part A.

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

A. Vanderver, C. Bodemer, B. Gener, 2013, The Lancet Neurology.

A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies

Hyung-Goo Kim, J. D. Labonne, I. Kong, 2015, American journal of medical genetics. Part A.

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins

Mark T. Handley, I. Jackson, R. Ribchester, 2017, American journal of human genetics.

Mutations in PLAA cause a lethal infantile epileptic encephalopathy by disrupting ubiquitin-mediated endolysosomal degradation of synaptic proteins

Mark T. Handley, R. Ribchester, C. Woods, 2017 .

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

G. Mortier, H. Dietz, W. Wuyts, 2016, Genetics in Medicine.

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

R. Pfundt, M. Reijnders, J. Gécz, 2018 .

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

R. Pfundt, M. Reijnders, J. Gécz, 2016, American journal of human genetics.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

J. Lupski, K. Devriendt, J. Vermeesch, 2019, Human mutation.

A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.

Anthony R. Dallosso, J. Rosenfeld, A. Pagnamenta, 2021, American journal of human genetics.

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

Z. Tümer, K. Bhatia, H. Lerche, 2022, Clinical genetics.

CHRNG genotype–phenotype correlations in the multiple pterygium syndromes

R. Touraine, S. Holder, J. Fryns, 2011, Journal of Medical Genetics.

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

E. Bertini, R. Carrozzo, H. Prokisch, 2022, American journal of human genetics.

A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.

Ania, Eleanor, Dewhurst, 2018 .

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

H. Hakonarson, M. Bamshad, H. Firth, 2022, HGG advances.

A. Vanderver, R. Taft, C. V. van Karnebeek, 2017, Pediatric neurology.

Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2016, American Journal of Medical Genetics. Part A.

Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder.

M. Kurian, Martin Smith, F. Gibbon, 2022, Movement disorders : official journal of the Movement Disorder Society.

Edinburgh Research Explorer Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2018 .

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

Clinical and molecular genetics of the multiple pterygium syndromes

J. Vogt, 2017 .

Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.

S. Vermeer, J. Cossins, D. Beeson, 2008, American journal of human genetics.

G. Houge, N. Kiely, T. Willis, 2022, American journal of medical genetics. Part A.

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome

Soo-Mi Park, M. Weiss, K. Stuurman, 2014, Acta neuropathologica communications.

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

Shin Lin, M. Snyder, M. Simpson, 2015, Nature Communications.

A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome‐related disorders

Alison M. Male, E. Maher, N. Kiely, 2020, Clinical genetics.

Germline mutation in DOK7 associated with fetal akinesia deformation sequence

D. Beeson, E. Maher, J. Vogt, 2009, Journal of Medical Genetics.

MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus

G. Cooper, M. Williamson, A. McNeill, 2017, PLoS genetics.

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

Carol J. Saunders, C. Saunders, I. Thiffault, 2019, bioRxiv.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, G. J. Swaminathan, A. Green, 2019 .

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

Colin A. Johnson, I. Glass, S. Bowdin, 2015, Journal of Medical Genetics.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Partial trisomy 17p12pter, associated with pre and postnatal growth retardation, dysmorphic facial and digital features, developmental delay, and signs of HMSN1 in early childhood.

L. Brueton, J. Vogt, S. Hill, 2006, European journal of medical genetics.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Martin S. Taylor, A. Green, M. Bitner-Glindzicz, 2014, Journal of Medical Genetics.

Striking intrafamilial phenotypic variability in Aicardi–Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C

Y. Crow, T. Southwood, J. Vogt, 2013, American journal of medical genetics. Part A.

M. Hurles, L. Vissers, A. Hoischen, 2015, The Journal of clinical investigation.

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

I. Scheffer, E. Wirrell, S. Weiss, 2022, Brain : a journal of neurology.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Variants in nuclear factor I genes influence growth and development

L. Richards, R. Hennekam, R. Gronostajski, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

J. Graham, F. Alkuraya, N. Hauser, 2021, American journal of medical genetics. Part A.

Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu‐Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall–Smith Syndrome

R. Hennekam, A. Shaw, E. Seemanová, 2014, Human mutation.

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

Alex Henderson, Jing Yu, Alex Magee, 2017, American journal of human genetics.

The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

J. Clayton-Smith, B. Gener, D. Goudie, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders

Eleanor F. Dewhurst, Courtney E. French, Nicholas S. Gleadall, 2023, medRxiv.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

D. MacArthur, L. Vissers, M. Reijnders, 2016, American journal of human genetics.

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.

R. Redon, J. Honnorat, A. Toutain, 2021, American journal of human genetics.

M. Reijnders, D. Segal, E. Wirrell, 2021, Neurology. Genetics.

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

Robert W. Taylor, J. Casey, A. Vanderver, 2016, Journal of Medical Genetics.

Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report

Robert W. Taylor, D. Milford, N. Ragge, 2016, BMC Research Notes.

The tale of a nail sign in chromosome 4q34 deletion syndrome

W. Reardon, L. Brueton, M. Tischkowitz, 2006, Clinical dysmorphology.

Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype

J. Clayton-Smith, K. Lachlan, J. Morton, 2019, Clinical genetics.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Fengyuan Hu, Kevin Rue-Albrecht, Patrick Deegan, 2017, Circulation.

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

A. Pagnamenta, D. Horn, J. Hurst, 2019, Genetics in Medicine.

Further delineation of the KAT6B molecular and phenotypic spectrum

W. Reardon, K. Devriendt, J. Clayton-Smith, 2014, European Journal of Human Genetics.

FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia

C. Shaw, P. Donahoe, I. Campbell, 2021, Journal of Pediatric Genetics.

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

A. Vanderver, Y. Crow, D. Lev, 2020, Human mutation.

Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect

S. Stewart, N. Crabtree, T. Cole, 2017, The Journal of clinical endocrinology and metabolism.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Second‐trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray

M. Kilby, E. Quinlan-Jones, J. Vogt, 2020, Clinical case reports.

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

J. Hurst, A. Clarke, M. Greenslade, 2017, European Journal of Human Genetics.

Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.

Robert W. Taylor, R. Horvath, E. Ostergaard, 2021, Human molecular genetics.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, American journal of human genetics.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Dorothy A. Thompson, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, American journal of human genetics.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Andy G Lynch, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, Scientific Reports.

Familial multiple pterygium syndrome (MPS) is not associated with CHRNG gene mutation

P. Prontera, J. Vogt, C. Mckeown, 2007, American Journal of Medical Genetics. Part A.

Incontinentia pigmenti (Bloch-Sulzberger syndrome). A case report.

J. Vogt, J. Matheson, 1991, Oral surgery, oral medicine, and oral pathology.

Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu‐Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall–Smith Syndrome

R. Hennekam, A. Shaw, E. Seemanová, 2014, Human mutation.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Sri V. V. Deevi, Eleanor F. Dewhurst, Courtney E. French, 2017, Scientific Reports.

Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2016, American journal of medical genetics. Part A.

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

A. Pagnamenta, D. Horn, J. Hurst, 2019, Genetics in Medicine.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, Circulation.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, American journal of human genetics.