G. Rice

发表

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

F. Rieux-Laucat, C. Bodemer, Y. Crow, 2017, The Journal of experimental medicine.

PRKDC mutations associated with immunodeficiency, granuloma and aire-dependent autoimmunity

M. van der Burg, L. Notarangelo, J. Walter, 2014, Pediatric Rheumatology.

Synonymous Mutations in RNASEH2A Create Cryptic Splice Sites Impairing RNase H2 Enzyme Function in Aicardi–Goutières Syndrome

Martin A. M. Reijns, L. Lagae, B. Gener, 2013, Human mutation.

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

I. Bruce, A. Herrick, D. Duffy, 2019, Arthritis Research & Therapy.

Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease

C. Bodemer, Y. Crow, Naoki Kitabayashi, 2016, Journal of Clinical Immunology.

Aicardi–Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies

Kristy Brown, A. Vanderver, E. Aronica, 2014, Annals of the rheumatic diseases.

MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.

Y. Crow, G. Rice, I. Buers, 2017, Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research.

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Jonathan E. Dickerson, R. Schiffmann, J. Tolmie, 2012, Nature Genetics.

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.

Genetic polymorphism in C3 is associated with progression in chronic kidney disease (CKD) patients with IgA nephropathy but not in other causes of CKD

W. Newman, P. Kalra, G. Rice, 2020, PloS one.

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

I. Bruce, Y. Crow, M. Alarcón‐Riquelme, 2017, Arthritis & rheumatology.

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

C. Wouters, Y. Crow, L. Adès, 2016, Journal of Clinical Immunology.

Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature

L. Lagae, Y. Crow, P. de Cock, 2020, Clinical genetics.

Differential levels of IFNα subtypes in autoimmunity and viral infection

I. Bruce, B. Schwikowski, D. Isenberg, 2021, bioRxiv.

Vitamin D Deficiency Is Associated With Endothelial Dysfunction and Increases Type-1 Interferon Gene Expression in a Murine Model of SLE

I. Bruce, G. Rice, T. Briggs, 2019 .

Vitamin D Deficiency Is Associated With Endothelial Dysfunction and Increases Type-1 Interferon Gene Expression in a Murine Model of SLE

I. Bruce, J. Sergeant, G. Rice, 2016 .

Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis

Y. Crow, D. Mitra, B. Bernardi, 2010, Developmental medicine and child neurology.

Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A

C. Bodemer, C. Wouters, Y. Crow, 2021, bioRxiv.

Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A

C. Bodemer, C. Wouters, Y. Crow, 2021, The Journal of experimental medicine.

Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies

C. Bodemer, Y. Crow, S. Orcesi, 2021, Journal of Clinical Immunology.

Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling.

C. Bodemer, Y. Crow, Naoki Kitabayashi, 2019, Rheumatology.

Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage

Y. Crow, S. Amselem, D. Duffy, 2019, Thorax.

PSMB10, the last immunoproteasome gene missing for PRAAS.

Y. Crow, I. Touitou, D. Duffy, 2019, The Journal of allergy and clinical immunology.

Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency

Y. Crow, L. Chatenoud, D. Duffy, 2018, Annals of the rheumatic diseases.

Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS

Y. Crow, P. Revy, D. Duffy, 2019, The Journal of experimental medicine.

A child with severe juvenile dermatomyositis treated with ruxolitinib

C. Bodemer, Y. Crow, D. Duffy, 2018 .

Comment on: ‘Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors’ by Giannelou et al: mutations in TRNT1 result in a constitutive activation of type I interferon signalling

Y. Crow, D. Duffy, V. Bondet, 2018, Annals of the rheumatic diseases.

Autosomal‐dominant early‐onset spastic paraparesis with brain calcification due to IFIH1 gain‐of‐function

Y. Crow, W. Dobyns, A. M. de Noordhout, 2018, Human mutation.

A child with severe juvenile dermatomyositis treated with ruxolitinib.

C. Bodemer, Y. Crow, D. Duffy, 2018, Brain : a journal of neurology.

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

A. Vanderver, Y. Crow, Naoki Kitabayashi, 2017, Neuropediatrics.

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

A. Vanderver, Y. Crow, Naoki Kitabayashi, 2017, Neuropediatrics.

A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1

A. Munnich, Y. Crow, Jean-Pierre Lin, 2013, Journal of Medical Genetics.

Band‐like intracranial calcification with simplified gyration and polymicrogyria: A distinct “pseudo‐TORCH” phenotype

I. Harting, Y. Crow, D. Pilz, 2008, American journal of medical genetics. Part A.

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.

Christopher M. Clouthier, Y. Crow, H. Blom, 2011, American journal of human genetics.

Musculoskeletal Disease in MDA5‐Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy

D. Horn, Naoki Kitabayashi, M. Nogueira-Barbosa, 2017, Arthritis & rheumatology.

SAMHD1 is a nucleic‐acid binding protein that is mislocalized due to aicardi–goutières syndrome‐associated mutations

G. Superti-Furga, K. Bennett, Y. Crow, 2012, Human mutation.

Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.

T. Molina, F. Rieux-Laucat, A. Fischer, 2014, The Journal of clinical investigation.

Cutaneous histopathological findings of Aicardi–Goutières syndrome, overlap with chilblain lupus

Y. Crow, A. Aeby, A. Kolivras, 2008, Journal of cutaneous pathology.

Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement

P. Verloo, Y. Crow, B. Ogunjimi, 2022, Journal of Clinical Immunology.

DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling

Y. Crow, Emilie Chopin, A. Mathieu, 2022, Journal of Clinical Immunology.

Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Mimic of Childhood Granulomatosis With Polyangiitis.

F. Rieux-Laucat, Y. Crow, G. Rice, 2015, JAMA dermatology.

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

E. Bertini, W. Halliday, J. Tolmie, 2008, American journal of medical genetics. Part A.

Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus

Y. Crow, H. Stewart, K. Õunap, 2014, Neuropediatrics.

Biallelic mutations in NRROS cause an early onset lethal microgliopathy

M. Nolan, B. McColl, Y. Crow, 2020, Acta Neuropathologica.

Basal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration.

Y. Crow, G. Rice, J. Livingston, 2014, Pediatric neurology.

Characterization of samhd1 Morphant Zebrafish Recapitulates Features of the Human Type I Interferonopathy Aicardi-Goutières Syndrome

Y. Crow, G. Rice, J. Levraud, 2015, The Journal of Immunology.

Aicardi-Goutières Syndrome Human Type I Interferonopathy Zebrafish Recapitulates Features of the Morphant samhd1 Characterization of

Y. Crow, G. Rice, J. Levraud, 2015 .

Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy.

Y. Crow, R. Biancheri, S. Orcesi, 2008, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome

A. Vanderver, Y. Crow, T. Kuijpers, 2013, Neurology.

Lessons from the natural history of Aicardi – Goutières syndrome

A. Vanderver, S. Orcesi, G. Rice, 2013 .

Mutations in ADAR1, IFIH1, and RNASEH2B Presenting As Spastic Paraplegia

Y. Crow, J. Gleeson, D. Rodriguez, 2014, Neuropediatrics.

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

C. Wouters, Y. Crow, L. Adès, 2016, Journal of Clinical Immunology.

COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification

Y. Crow, S. Orcesi, D. Doherty, 2011, Neuropediatrics.

Human Disease Phenotypes Associated With Mutations in TREX1

Y. Crow, M. Rodero, G. Rice, 2015, Journal of Clinical Immunology.

Therapies in Aicardi–Goutières syndrome

A. Vanderver, S. Orcesi, G. Rice, 2014, Clinical and experimental immunology.

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

John H Livingston, Roberta Battini, Ivana Olivieri, 2012, Nature Genetics.

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

F. Rieux-Laucat, J. Casanova, S. Lovell, 2010, Nature Genetics.

A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi–Goutières syndrome

Y. Crow, M. Verbeek, C. Haaxma, 2010, American journal of medical genetics. Part A.

Familial Aicardi–Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures

Y. Crow, G. Rice, D. Singh-Grewal, 2010, American journal of medical genetics. Part A.

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Jonathan C. Fuller, D. Bonthron, E. Bertini, 2009, Nature Genetics.

Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation

T. Maisonobe, P. Lebon, G. Rice, 2008, American journal of medical genetics. Part A.

IAP019 Aicardi-Goutières syndrome presenting as a late onset sub-acute leukoencephalopathy

Y. Crow, R. Biancheri, S. Orcesi, 2007 .

Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children.

F. Rieux-Laucat, A. Fischer, C. Bodemer, 2016, The Journal of allergy and clinical immunology.

Mitochondrial double-stranded RNA triggers antiviral signalling in humans

A. Munnich, M. Teitell, Y. Crow, 2018, Nature.

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

S. Lovell, Y. Crow, J. Coxhead, 2019, Science Immunology.

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

J. Casanova, L. Notarangelo, Y. Crow, 2014, Nature.

Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood.

Y. Crow, A. Liston, G. Rice, 2017, The Journal of allergy and clinical immunology.

Overview of STING-associated vasculopathy with onset in infancy (SAVI) among 21 patients.

T. Molina, F. Rieux-Laucat, A. Fischer, 2020, The journal of allergy and clinical immunology. In practice.

HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase

Geoff Kelly, Michelle Webb, Jonathan P. Stoye, 2011, Nature.

SAMHD1 restricts HIV-1 reverse transcription in quiescent CD4+ T-cells

Y. Crow, O. Schwartz, G. Rice, 2012, Retrovirology.

LACC1 deficiency links juvenile arthritis with autophagy and metabolism in macrophages

Y. Crow, A. Mathieu, G. Rice, 2021, The Journal of experimental medicine.

Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts.

Y. Crow, D. Lafontaine, R. O’Keefe, 2020, American journal of human genetics.

Novel intramolecular base-pairing of the U8 snoRNA underlies a Mendelian form of cerebral small vessel disease

Y. Crow, D. Lafontaine, R. O’Keefe, 2019, bioRxiv.

MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease

D. Baralle, S. Hubbard, W. Newman, 2022, American journal of human genetics.

MRSD: a novel quantitative approach for assessing suitability of RNA-seq in the clinical investigation of mis-splicing in Mendelian disease

D. Baralle, S. Hubbard, W. Newman, 2021, medRxiv.

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors

Y. Crow, Elizabeth E Gray, D. Stetson, 2014, Nature Immunology.

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

Martin A. M. Reijns, Y. Crow, H. Van Esch, 2020, Nature Genetics.

Combination of exome sequencing and immune testing confirms Aicardi–Goutières syndrome type 5 in a challenging pediatric neurology case

Jonathan S. Berg, James P. Evans, Karen E. Weck, 2018, Cold Spring Harbor molecular case studies.

ADAR1 Facilitates HIV-1 Replication in Primary CD4+ T Cells

Karel, A. Vanderver, Y. Crow, 2015, PloS one.

cGAS Expression in Patients with Systemic Lupus Erythematosus.

J. An, K. Elkon, G. Rice, 2016 .

ADAR1 Facilitates HIV-1 Replication in Primary CD4+ T Cells

A. Vanderver, Y. Crow, N. Kootstra, 2015, PloS one.

Mutations in CECR1 associated with a neutrophil signature in peripheral blood

Y. Crow, A. Mathieu, I. Durieu, 2014, Pediatric Rheumatology.

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

L. Lagae, A. Vanderver, J. Tolmie, 2014, Nature Genetics.

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus

Y. Crow, G. Rice, M. Suri, 2011, American journal of medical genetics. Part A.

Chilblains as a diagnostic sign of aicardi-goutières syndrome.

Y. Crow, P. Lebon, G. Rice, 2010, Neuropediatrics.

Type I interferon-mediated autoinflammation due to DNase II deficiency

F. Rieux-Laucat, C. Picard, Y. Crow, 2017, Nature Communications.

PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.

David J. Chen, M. van der Burg, L. Notarangelo, 2015, The Journal of allergy and clinical immunology.

Clinical Reasoning: A 25-year-old woman with recurrent episodes of collapse and loss of consciousness

Y. Crow, R. Thomas, Hrishikesh Kumar, 2020, Neurology.

A Mendelian Mimic of Jaccoud’s Arthropathy

D. Horn, Y. Crow, Naoki Kitabayashi, 2017 .

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

C. Wouters, Y. Crow, L. Adès, 2016, Journal of Clinical Immunology.

Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation.

Bohdan Waszkowycz, Leslie G Biesecker, Natalie Stephenson, 2013, Arthritis and rheumatism.

Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2

Y. Crow, Salima El-Chehadeh, J. Marsh, 2023, Journal of Clinical Immunology.

Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling

T. Molina, Y. Crow, J. Marsh, 2020, The Journal of experimental medicine.

ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters

Y. Crow, I. Touitou, M. Rodero, 2016, RMD Open.

Juvenile Neuropsychiatric Systemic Lupus Erythematosus: Identification of Novel Central Neuroinflammation Biomarkers

M. Elmaleh, S. Auvin, S. Costi, 2022, Journal of Clinical Immunology.

From Diagnosis to Prognosis: Revisiting the Meaning of Muscle ISG15 Overexpression in Juvenile Inflammatory Myopathies

C. Bodemer, M. Rodero, G. Rice, 2020, Arthritis & rheumatology.

Disease‐associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling

F. Rieux-Laucat, C. Bodemer, C. Wouters, 2017, The Journal of allergy and clinical immunology.

Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts.

R. Moots, R. Redon, I. Bruce, 2020, The Lancet. Rheumatology.

Large-scale analysis of the genetic basis of pediatric systemic lupus erythematosus

Quentin, Y. Crow, Emilie Chopin, 2020 .

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.

Isabella Moroni, John H Livingston, Odile Boespflug-Tanguy, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.

R. Hennekam, Y. Crow, P. Nürnberg, 2015, American journal of human genetics.

Characterization of a mutant samhd1 zebrafish model implicates dysregulation of cholesterol biosynthesis in Aicardi-Goutières syndrome

S. Allan, G. Rice, T. Briggs, 2023, Frontiers in Immunology.

Human Disease Phenotypes Associated With Mutations in TREX1

Y. Crow, M. Rodero, G. Rice, 2015, Journal of Clinical Immunology.

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

L. Lagae, A. Vanderver, R. Schiffmann, 2016, Nature Genetics.

Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype

Y. Crow, G. Rice, A. Ramanan, 2020, Pediatric Rheumatology.

JAK 1/2 Blockade in MDA5 Gain-of-Function

Y. Crow, G. Rice, B. Neven, 2018, Journal of Clinical Immunology.

Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

Y. Crow, Naoki Kitabayashi, N. Boddaert, 2018, The New England journal of medicine.

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

S. Mehta, Y. Crow, D. Clifford, 2020, American journal of medical genetics. Part A.

A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis

S. Ellard, Y. Crow, G. Rice, 2008, American journal of medical genetics. Part A.

Cardiac valve involvement in ADAR-related type I interferonopathy

Y. Crow, S. Rahman, A. Giardini, 2019, Journal of Medical Genetics.

An open-label trial of JAK 1/2 blockade in progressive IFIH1-associated neuroinflammation

Y. Crow, G. Rice, K. Kothur, 2018, Neurology.

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

C. Bodemer, G. Rice, T. Briggs, 2015, The British journal of dermatology.

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

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

JAK 1/2 Blockade in MDA5 Gain-of-Function

Y. Crow, G. Rice, B. Neven, 2018, Journal of Clinical Immunology.

Sine causa tetraparesis

R. Badolato, S. Giliani, S. Orcesi, 2018, Medicine.

JAK Inhibition in the Aicardi-Goutières Syndrome.

Y. Crow, N. Boddaert, D. Duffy, 2020, The New England journal of medicine.

Clinical Non-penetrance Associated with Biallelic Mutations in the RNase H2 Complex

Y. Crow, M. Zamani, G. Rice, 2023, Journal of Clinical Immunology.

Comprehensive molecular screening strategy of OCLN in band‐like calcification with simplified gyration and polymicrogyria

Y. Crow, N. Boddaert, R. Nabbout, 2018, Clinical genetics.

Aicardi–Goutières syndrome presenting with haematemesis in infancy

A. Meager, G. Rice, D. Hall, 2009, Acta paediatrica.

A. Herrick, G. Rice, T. Briggs, 2019, Journal of Clinical Immunology.

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

J. An, K. Elkon, G. Rice, 2017, Arthritis & rheumatology.

Identification of type I interferonopathies using blood interferon signature: the experience of a pediatric rheumatology center

Y. Crow, A. Martini, G. Rice, 2015, Pediatric Rheumatology.

Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy

Robert W. Taylor, Y. Crow, T. Roscioli, 2019, Neuropediatrics.

Erratum: Human intracellular ISG15 prevents interferon-α±/β 2 over-amplification and auto-inflammation (Nature 517 (2015) (89-93) 10.1038/nature13801))

J. Casanova, L. Notarangelo, Y. Crow, 2015 .

JAK inhibition in STING-associated interferonopathy

Y. Crow, M. Rodero, G. Rice, 2016, Annals of the rheumatic diseases.

Is Gain-of-function STAT1 CMC An Interferonopathy?

Y. Crow, A. Gennery, G. Rice, 2015 .

JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study

C. Bodemer, N. Boddaert, D. Duffy, 2023, Journal of Clinical Immunology.

Mitochondrial double-stranded RNA triggers antiviral signalling in humans

A. Munnich, M. Teitell, A. Rötig, 2018, Nature.

Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants

R. Petty, K. Brown, G. Rice, 2019, Pediatric Rheumatology.

Human Mutation

A. Vanderver, H. Brunner, P. Fockens, 2019 .

Systemic inflammatory syndrome in children with FARSA deficiency

M. Mirande, N. Boddaert, K. Borensztajn, 2022, Clinical genetics.

Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.

T. Molina, F. Rieux-Laucat, A. Fischer, 2014, The Journal of clinical investigation.

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

C. Wouters, Y. Crow, L. Adès, 2016, Journal of Clinical Immunology.

Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Mimic of Childhood Granulomatosis With Polyangiitis.

F. Rieux-Laucat, Y. Crow, G. Rice, 2015, JAMA dermatology.

Type I interferon-mediated autoinflammation due to DNase II deficiency

F. Rieux-Laucat, C. Picard, Naoki Kitabayashi, 2017, Nature Communications.

Mitochondrial double-stranded RNA triggers antiviral signalling in humans

D. Duffy, J. Rehwinkel, Somdutta Dhir, 2018, Nature.