List of works - Tracy Briggs

Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease

scientific article published on 09 December 2016

Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.

scientific article published in December 2008

Brief Report: Vitamin D Deficiency Is Associated With Endothelial Dysfunction and Increases Type I Interferon Gene Expression in a Murine Model of Systemic Lupus Erythematosus.

scientific article published on 7 July 2016

Cerebral screening in patients with hereditary haemorrhagic telangiectasia

scientific article published in October 2014

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

scientific article published in January 2008

Childhood-onset autoimmune cytopenia as the presenting feature of biallelic ACP5 mutations

scientific article

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

Controlled clinical trials in cystic fibrosis--are we doing better?

scientific article published on 03 November 2005

DDX58 and Classic Singleton-Merten Syndrome

scientific article published on 20 December 2018

Detection of interferon alpha protein reveals differential levels and cellular sources in disease.

scientific article published on 18 April 2017

Disease modeling of core pre-mRNA splicing factor haploinsufficiency

scientific article published on 01 November 2019

Expression of Cyclic GMP-AMP Synthase in Patients With Systemic Lupus Erythematosus.

scientific article published on 18 November 2016

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum

scientific article published on 29 August 2016

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

scientific article published on 10 April 2017

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease

scientific article published on 28 August 2018

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated exons

article published in the Proceedings of the National Academy of Sciences of the United States of America

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

scientific article

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

scientific article published on 20 July 2015

Osteopontin - a biomarker for organ damage in paediatric lupus?

scientific article published on 8 March 2013

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

scientific article published on 20 April 2021

RNASEH2B Related Adult-Onset Interferonopathy

scientific article published on 31 July 2019

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2

scientific article published on 01 December 2019

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

scientific article

Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus

scientific article published on 7 July 2016

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

scientific article

Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region

scientific article published on 23 September 2015

The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum.

scientific article

The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience

scientific article published in 2021

The value of microarray-based comparative genomic hybridisation (aCGH) testing in the paediatric clinic

scientific article published on 25 March 2015

Treatment of Gastrointestinal Bleeding in a Probable Case of Cerebroretinal Microangiopathy with Calcifications and Cysts

scientific article

Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation

scientific article published on 01 November 2008

Type I interferon in patients with systemic autoimmune rheumatic disease is associated with haematological abnormalities and specific autoantibody profiles

scientific article published on 14 June 2019

Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.

scientific article published on 18 August 2015

List of works by Tracy Briggs

Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease

Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.

Brief Report: Vitamin D Deficiency Is Associated With Endothelial Dysfunction and Increases Type I Interferon Gene Expression in a Murine Model of Systemic Lupus Erythematosus.

Cerebral screening in patients with hereditary haemorrhagic telangiectasia

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

Childhood-onset autoimmune cytopenia as the presenting feature of biallelic ACP5 mutations

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Controlled clinical trials in cystic fibrosis--are we doing better?

DDX58 and Classic Singleton-Merten Syndrome

Detection of interferon alpha protein reveals differential levels and cellular sources in disease.

Disease modeling of core pre-mRNA splicing factor haploinsufficiency

Expression of Cyclic GMP-AMP Synthase in Patients With Systemic Lupus Erythematosus.

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated exons

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

Osteopontin - a biomarker for organ damage in paediatric lupus?

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

RNASEH2B Related Adult-Onset Interferonopathy

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region

The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum.

The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience

The value of microarray-based comparative genomic hybridisation (aCGH) testing in the paediatric clinic

Treatment of Gastrointestinal Bleeding in a Probable Case of Cerebroretinal Microangiopathy with Calcifications and Cysts

Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation

Type I interferon in patients with systemic autoimmune rheumatic disease is associated with haematological abnormalities and specific autoantibody profiles

Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.