Y. Crow

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

Clinical Delineation and Natural History of the PIK3CA-Related Overgrowth Spectrum**

Julie C. Sapp, R. Whitehouse, L. Biesecker, 2014, American journal of medical genetics. Part A.

Recognizable phenotypes associated with intracranial calcification

Y. Crow, M. S. van der Knaap, J. Livingston, 2013, Developmental medicine and child neurology.

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.

D. Bonthron, Z. Molnár, Y. Crow, 2009, American journal of human genetics.

A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus

Y. Crow, D. Chitayat, H. Takai, 2016, Genes & development.

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

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

Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes

Y. Crow, J. Livingston, D. Warren, 2014, Developmental medicine and child neurology.

Mendelian disorders of immunity related to an upregulation of type I interferon

Y. Crow, 2020, Stiehm's Immune Deficiencies.

Insulin dependent diabetes in childhood and material deprivation in northern England, 1977-86.

Y. Crow, K. Alberti, J. M. Parkin, 1991, BMJ.

Treatments in Aicardi–Goutières syndrome

Y. Crow, J. Livingston, J. Shetty, 2020, Developmental medicine and child neurology.

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.

The type I interferonopathies: 10 years on

Y. Crow, D. Stetson, 2021, Nature reviews. Immunology.

Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction Syndrome

A. Munnich, Y. Crow, M. Polak, 2008, Pediatric Research.

Clinical and mutational spectrum of Mowat-Wilson syndrome.

I. Krantz, K. Devriendt, H. Firth, 2005, European journal of medical genetics.

The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS

A. Vanderver, Y. Crow, S. Orcesi, 2022, Arthritis & rheumatology.

Global mapping of RNA homodimers in living cells

Y. Crow, Grzegorz Kudla, R. O’Keefe, 2022, Genome research.

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.

Paediatric stroke: genetic insights into disease mechanisms and treatment targets

Y. Crow, P. Munot, V. Ganesan, 2011, The Lancet Neurology.

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.

STING-Mediated Lung Inflammation and Beyond

Y. Crow, M. Frémond, 2021, Journal of Clinical Immunology.

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.

Neuromyelitis optica in patients with increased interferon alpha concentrations

Y. Crow, J. Wardlaw, A. Hayday, 2020, The Lancet Neurology.

Circulating Interferon‐α Measured With a Highly Sensitive Assay as a Biomarker for Juvenile Inflammatory Myositis Activity: Comment on the Article by Mathian et al

C. Bodemer, Y. Crow, D. Duffy, 2020, Arthritis & rheumatology.

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.

Inhibition of IFNα secretion in cells from patients with juvenile dermatomyositis under TBK1 inhibitor treatment revealed by single-molecular assay technology.

C. Bodemer, Y. Crow, D. Duffy, 2019, Rheumatology.

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.

Development and Validation of an Ultrasensitive Single Molecule Array Digital Enzyme-linked Immunosorbent Assay for Human Interferon-α

Y. Crow, D. Duffy, M. Rodero, 2018, Journal of visualized experiments : JoVE.

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.

Type I interferon–mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview

Y. Crow, M. Rodero, 2016, The Journal of experimental medicine.

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.

Familial and syndromic lupus share the same phenotype as other early-onset forms of lupus.

F. Rieux-Laucat, Y. Crow, B. Ranchin, 2017, Joint, bone, spine : revue du rhumatisme.

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.

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.

Y. Crow, D. Pilz, W. Dobyns, 2010, American journal of human genetics.

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.

A Brief Historical Perspective on the Pathological Consequences of Excessive Type I Interferon Exposure In vivo

J. Casanova, Y. Crow, I. Gresser, 2018, Journal of Clinical Immunology.

Neuromyelitis optica in a child with Aicardi-GoutiÈres syndrome

Y. Crow, A. Vincent, S. Zuberi, 2015, Neurology.

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.

A Novel Hypomorphic CSF1R Gene Mutation in the Biallelic State Leading to Fatal Childhood Neurodegeneration

Y. Crow, T. Ikeuchi, J. Livingston, 2020, Neuropediatrics.

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation

A. Munnich, Y. Crow, D. Krakow, 2008, Nature Genetics.

Mosaic Tetrasomy 9p: A Mendelian Condition Associated With Pediatric-Onset Overlap Myositis

Y. Crow, B. Bader-Meunier, M. Frémond, 2015, Pediatrics.

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

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

a Ponto-Bulbar Palsy with Deafness , Is Caused by Mutations in C 20 orf 54

Y. Crow, H. Houlden, F. L. Raymond, 2010 .

Mental retardation, keratoconus, febrile seizures and sinoatrial block: a previously undescribed autosomal recessive disorder

Y. Crow, G. Karbani, D. Kirby, 2005, Clinical genetics.

Understanding the evolving phenotype of vascular complications in telomere biology disorders

Anne R. Pariser, G. Raghu, F. Johnson, 2018, Angiogenesis.

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.

Sort Your Self Out!

Y. Crow, C. Uggenti, 2018, Cell.

JAK inhibition in the type I interferonopathies.

Y. Crow, M. Frémond, B. Neven, 2021, The Journal of allergy and clinical immunology.

Brown–Vialetto–Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease

Y. Crow, A. Childs, J. Livingston, 2005, Brain and Development.

Rheumatoid factor positive polyarticular juvenile idiopathic arthritis associated with a novel COPA mutation.

Y. Crow, J. Marsh, B. Bader-Meunier, 2020, Rheumatology.

Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3

Julian R. E. Davis, Y. Crow, W. Newman, 2011, American journal of medical genetics. Part A.

Degos disease: a C5b-9/interferon-α-mediated endotheliopathy syndrome.

G. Nuovo, Y. Crow, M. Crow, 2011, American journal of clinical pathology.

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.

Intracranial calcification in early infantile Krabbe disease: nothing new under the sun

Y. Crow, G. Uziel, C. Graziano, 2012, Developmental medicine and child neurology.

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.

STING-associated vasculopathy with onset in infancy--a new interferonopathy.

J. Casanova, Y. Crow, 2014, The New England journal of medicine.

Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum

R. Hennekam, Y. Crow, M. Hannibal, 2004, Journal of Medical Genetics.

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 .

Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification

Y. Crow, G. Coppola, D. Campion, 2015, Human mutation.

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

W. V. van IJcken, Y. Crow, T. Goldmann, 2016, The Journal of experimental medicine.

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.

Resolution of Saphenous Vein Graft Stenosis with Exercise: A Case Report

Y. Crow, M. Bailey, D. Scott, 2009 .

Atypical progeroid syndrome due to heterozygous missense LMNA mutations.

Y. Crow, G. Novelli, A. Garg, 2009, The Journal of clinical endocrinology and metabolism.

Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome

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

Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion.

Y. Crow, P. Debeer, C. Hall, 2006, European journal of medical genetics.

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

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

Human Couples An Association Between the Kinship and Fertility

R. Hennekam, Y. Crow, A. Ekici, 2008 .

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

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

The neonatal form of Aicardi-Goutières syndrome masquerading as congenital infection.

Y. Crow, L. Hattingh, S. Seal, 2008, Early human development.

Severe combined immunodeficiency in stimulator of interferon genes (STING) V154M/wild‐type mice

F. Rieux-Laucat, Y. Crow, Sophie Jung, 2019, The Journal of allergy and clinical immunology.

Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description

Angela N. Viaene, A. Vanderver, R. Schiffmann, 2020, Journal of child neurology.

Y. Crow, J. Brognard, A. Belot, 2014 .

Reply: To PMID 23666743.

Y. Crow, J. Brognard, A. Belot, 2014, Arthritis & rheumatology.

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

A. Vanderver, Y. Crow, S. Orcesi, 2016, Neurology.

Novel monogenic diseases causing human autoimmunity.

Y. Crow, I. Melki, 2015, Current opinion in immunology.

Blue (or purple) toes: chilblains or chilblain lupus-like lesions are a manifestation of Aicardi-Goutières syndrome and familial chilblain lupus.

Y. Crow, J. Prendiville, 2009, Journal of the American Academy of Dermatology.

COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification

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

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

W. Reardon, D. Cooper, Y. Crow, 2005, Journal of Medical Genetics.

Mosaic structural variation in children with developmental disorders

Tom R. Gaunt, Hashem A. Shihab, Blair H. Smith, 2015, Human molecular genetics.

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3

Y. Crow, W. Newman, S. Banka, 2011, European Journal of Human Genetics.

Aicardi‐Goutières syndrome: an important Mendelian mimic of congenital infection

Y. Crow, J. Livingston, Yanick J Crow, 2008, Developmental medicine and child neurology.

Neuroimaging of Fetal Infection

M. L. Rossi, L. Tychsen, M. Recio, 2017, Journal of Pediatric Neurology.

Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi–Goutières Syndrome and Beyond

Y. Crow, J. Livingston, 2016, Neuropediatrics.

Human Disease Phenotypes Associated With Mutations in TREX1

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

The eukaryotic elongation factor eEF1A1 interacts with SAMHD1.

I. Taylor, Y. Crow, D. Schwefel, 2015, The Biochemical journal.

Early-Onset Aicardi-Goutières Syndrome

A. Vanderver, Y. Crow, S. Orcesi, 2014, Journal of child neurology.

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

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

Type I interferonopathies: a novel set of inborn errors of immunity

Y. Crow, 2011, Annals of the New York Academy of Sciences.

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.

New subtype of familial intracranial calcification in a mother and two children

Y. Crow, T. Ben-Omran, J. Livingston, 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.

Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity.

Y. Crow, J. Rehwinkel, 2009, Human molecular genetics.

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.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

A. Green, D. Bonthron, E. Bertini, 2007, American journal of human genetics.

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

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

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.

D. Barnes, Y. Crow, W. Newman, 2007, American journal of human genetics.

Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

D. Barnes, D. Bonthron, H. Brunner, 2006, Nature Genetics.

A second locus for Aicardi-Goutières syndrome at chromosome 13q14–21

L. Lagae, H. Brunner, Y. Crow, 2005, Journal of Medical Genetics.

Congenital glaucoma and brain stem atrophy as features of Aicardi–Goutières syndrome

C. Woods, Y. Crow, R. Winter, 2004, American journal of medical genetics. Part A.

Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism

C. Woods, Y. Crow, J. Bond, 2003, Journal of medical genetics.

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

C. Woods, J. Tolmie, H. Brunner, 2000, American journal of human genetics.

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.

"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.

J. Tolmie, Y. Crow, S. Zuberi, 1998, Journal of medical genetics.

Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument

J. Tolmie, Y. Crow, D. Hadley, 2004, Neuropediatrics.

Mitochondrial double-stranded RNA triggers antiviral signalling in humans

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

Identification of microcephalin, a protein implicated in determining the size of the human brain.

Hussain Jafri, Emma Roberts, Jimi Adu, 2002, American journal of human genetics.

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.

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

Steven M. Holland, Christoph Klein, Amos Etzioni, 2017, Journal of Clinical Immunology.

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.

SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage.

D. Bentley, M. Ross, A. Pettitt, 2014, Blood.

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.

Aicardi–Goutières syndrome and the type I interferonopathies

Y. Crow, N. Manel, 2015, Nature Reviews Immunology.

A Brief Historical Perspective on the Pathological Consequences of Excessive Type I Interferon Exposure In vivo

J. Casanova, Y. Crow, I. Gresser, 2018, Journal of Clinical Immunology.

LACC1 deficiency links juvenile arthritis with autophagy and metabolism in macrophages

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

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

P. Munroe, F. Andermann, Y. Crow, 1998, Human molecular genetics.

Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland.

R M Gardiner, P B Munroe, N D Greene, 1998, Journal of medical genetics.

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.

Spondylocostal dysostosis associated with a 46, XX,+15,dic(6;15)(q25;q11.2) translocation.

J. Tolmie, Y. Crow, K. Rippard, 1997, Clinical dysmorphology.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, 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 .

Modeling of TREX1-Dependent Autoimmune Disease using Human Stem Cells Highlights L1 Accumulation as a Source of Neuroinflammation.

A. Muotri, Y. Crow, C. Trujillo, 2017, Cell stem cell.

Lupus: how much "complexity" is really (just) genetic heterogeneity?

Y. Crow, 2011, Arthritis and rheumatism.

Faculty Opinions recommendation of Type I interferons and the cytokine TNF cooperatively reprogram the macrophage epigenome to promote inflammatory activation.

Y. Crow, Yanick J. Crow, 2017 .

Corrigendum: Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits (Human Molecular Genetics (1998) 7 (291-297))

P. Munroe, F. Andermann, Y. Crow, 1998 .

Batten disease in the west of Scotland 1974-1995 including five cases of the juvenile form with granular osmiophilic deposits.

J. Tolmie, Y. Crow, A. Howatson, 1997, Neuropediatrics.

The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland.

P. Munroe, N. Greene, Y. Crow, 1999, Molecular genetics and metabolism.

A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation.

J. Tolmie, Y. Crow, J. Connor, 1998, Journal of medical genetics.

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

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

TREX 1-deficient human astrocytes secrete neurotoxic type I interferons d Blocking L 1 reverse transcription or type I interferon signaling rescues toxicity

A. Muotri, Y. Crow, C. Trujillo, 2017 .

Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies

J. Clayton-Smith, Y. Crow, B. Kerr, 2012, Archives of Disease in Childhood.

Sequencing revolution

Y. Crow, 2011, Developmental medicine and child neurology.

A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?

J. Thompson, Y. Crow, N. Lench, 2001, Journal of medical genetics.

Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.

Y. Crow, F. Raymond, H. Houlden, 2010, American journal of human genetics.

The type I interferonopathies: 10 years on

Y. Crow, D. Stetson, Daniel B. Stetson, 2021, Nature Reviews 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.

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

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

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

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

Type I interferonopathies: mendelian type I interferon up-regulation.

Y. Crow, Yanick J Crow, 2015, Current opinion in immunology.

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.

SAMHD 1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage

Glen Wright Colopy, D. Bentley, M. Ross, 2014 .

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.

Cerebral vasculopathy is a common feature in Aicardi–Goutières syndrome associated with SAMHD1 mutations

Y. Crow, P. Nürnberg, M. du Moulin, 2011, Proceedings of the National Academy of Sciences.

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.

ASPM is a major determinant of cerebral cortical size

Alexander F. Markham, Emma Roberts, Christopher A. Walsh, 2002, Nature Genetics.

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.

S. Mundlos, G. Mortier, Y. Crow, 2004, American journal of human genetics.

Type I interferon-mediated autoinflammation due to DNase II deficiency

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

Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.

M. Adams, A. Fasano, A. Bassuk, 2009, American journal of human genetics.

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 .

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Marc S. Williams, J. Shendure, D. Nickerson, 2014, American journal of human genetics.

8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH

Shuwen Huang, V. Maloney, J. Barber, 2008, European Journal of Human Genetics.

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

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

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

W. Reardon, A. Collins, J. Clayton-Smith, 2011, European Journal of Human Genetics.

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

J. Casanova, J. Franco, A. Bousfiha, 2017, Journal of Clinical Immunology.

Inflammatory profiles across the spectrum of disease reveal a distinct role for GM-CSF in severe COVID-19

Y. Crow, J. Baillie, T. Solomon, 2021, Science Immunology.

Neurological presentation of Griscelli syndrome: Obstructive hydrocephalus without haematological abnormalities or organomegaly

Y. Crow, A. Tyagi, Mamata Rajadhyax, 2007, Brain and Development.

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.

Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36

C. Woods, A. Mubaidin, Y. Crow, 2001, Journal of medical genetics.

A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features

Y. Crow, A. Gennery, J. Goodship, 2006, American journal of medical genetics. Part A.

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

S. Elledge, D. Chaussabel, J. Casanova, 2018, The Journal of experimental medicine.

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.

COPA Syndrome as a Cause of Lupus Nephritis

Y. Crow, A. Belot, M. Frémond, 2019, Kidney international reports.

A partial form of inherited human USP18 deficiency underlies infection and inflammation

J. Casanova, A. Sher, A. Bousfiha, 2022, 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.

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Ingeborg Krägeloh-Mann, Francesco Muntoni, Peter Nürnberg, 2008, Nature Genetics.

cGMP-AMP synthase paves the way to autoimmunity

Y. Crow, M. Rodero, 2015, Proceedings of the National Academy of Sciences.

Type I interferon-related kidney disorders.

Y. Crow, A. Vaglio, P. Romagnani, 2022, Kidney international.

Mutations in MFSD8/CLN7 are a frequent cause of variant‐late infantile neuronal ceroid lipofuscinosis

R. Boldrini, E. Bertini, R. Carrozzo, 2009, Human mutation.

The genetics of Aicardi-Goutières syndrome.

Y. Crow, 2002, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

A. Munnich, K. Devriendt, R. Hennekam, 2011, Journal of Medical Genetics.

Natural history of cardiac involvement in geleophysic dysplasia

Y. Crow, G. Karbani, D. Dickinson, 2005, American journal of medical genetics. Part A.

Cerebrospinal fluid neopterin as a biomarker of treatment response to Janus kinase inhibition in Aicardi–Goutières syndrome

Y. Crow, R. Dale, S. Mohammad, 2021, Developmental medicine and child neurology.

Elevated pterins in cerebral spinal fluid– biochemical marker of Aicardi–Goutières syndrome

Y. Crow, E. Wassmer, S. Santra, 2009, Developmental medicine and child neurology.

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.

C. Woods, Y. Crow, C. Woods, 2000, American journal of human genetics.

Mitochondrial Nucleic Acid as a Driver of Pathogenic Type I Interferon Induction in Mendelian Disease

Y. Crow, T. Wai, A. Lepelley, 2021, Frontiers in Immunology.

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.

Self-Awareness: Nucleic Acid-Driven Inflammation and the Type I Interferonopathies.

Y. Crow, A. Lepelley, C. Uggenti, 2019, Annual review of 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 .

Chromosome 1q42 deletion and agenesis of the corpus callosum

Y. Crow, J. Simpson, Mani J. Puthuran, 2005, American journal of medical genetics. Part A.

, patients in both classical and atypical Rett syndrome gene are foundMECP 2 Gross rearrangements

W. Reardon, D. Cooper, Y. Crow, 2006 .

, in both classical and atypical Rett Syndrome Gross rearrangements of the MECP 2 gene are found

W. Reardon, D. Cooper, Y. Crow, 2005 .

Elevated antiviral, myeloid and endothelial inflammatory markers in severe COVID-19

Y. Crow, J. Baillie, T. Solomon, 2020, medRxiv.

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

K. Devriendt, R. Hennekam, H. Brunner, 2008, Science.

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.

Expanding the clinical spectrum of SLC29A3 gene defects.

Y. Crow, W. Newman, R. Spiegel, 2010, European journal of medical genetics.

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

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

Human Disease Phenotypes Associated With Mutations in TREX1

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

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation

C. Woods, Y. Crow, J. Bond, 2002, Journal of medical genetics.

DDX58 and Classic Singleton-Merten Syndrome

Y. Crow, W. Gahl, C. Ferreira, 2018, 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.

Genetic syndromes mimic congenital infections.

Y. Crow, L. Cerveró, M. Martínez‐Frías, 2005, The Journal of pediatrics.

Infantile neurological Degos disease.

Y. Crow, G. Vassallo, M. Judge, 2011, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Erythrocyte-derived mitochondria take to the lupus stage.

Y. Crow, A. Lepelley, 2021, Cell metabolism.

The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS

A. Vanderver, Y. Crow, S. Orcesi, 2022, Annals of the Rheumatic Diseases.

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.

DDX58 and Classic Singleton-Merten Syndrome

Y. Crow, W. Gahl, C. Ferreira, 2018, Journal of Clinical Immunology.

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.

Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome

H. Firth, Y. Crow, A. Parker, 2021, Molecular genetics & genomic medicine.

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

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

An Indian child with Coats plus syndrome due to mutations in STN1.

Y. Crow, M. Faruq, Pooja Sharma, 2020, American journal of medical genetics. Part A.

Treatment of Leukoencephalopathy With Calcifications and Cysts With Bevacizumab.

J. Shimony, Y. Crow, A. Fay, 2017, Pediatric neurology.

Leukoencephalopathy with calcification and cysts: A cerebral microangiopathy caused by mutations in SNORD118

Y. Crow, J. Livingston, 2017, Journal of the Neurological Sciences.

Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: A new syndrome?

Y. Crow, É. Lainey, B. Isidor, 2013, American journal of medical genetics. Part A.

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

Y. Crow, T. Briggs, J. Livingston, 2010, Molecular Syndromology.

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.

Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsy

Y. Crow, K. Kothur, Kirsty Stewart, 2021, Brain and Development.

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.

Aicardi‐Goutières syndrome: description of a late onset case

Y. Crow, D. Riva, L. Chiapparini, 2008, Developmental medicine and child neurology.

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

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

Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome.

Y. Crow, Marco L. Leung, Margie A. Ream, 2023, European journal of medical genetics.

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

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

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.

Elevated Interferon-Alpha in Fetal Blood in the Prenatal Diagnosis of Aicardi-Goutières Syndrome

Y. Crow, C. Garel, D. Luton, 2005, Fetal Diagnosis and Therapy.

Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab.

Y. Crow, L. Pedrola, F. Martínez-Castellano, 2020, Pediatric neurology.

Leukoencephalopathy, intracranial calcifications, cysts and SNORD118 mutation (Labrune Syndrome) with obstructive hydrocephalus.

Y. Crow, F. Elmslie, A. Shtaya, 2019, World neurosurgery.

Polymorphisms in IFIH1: the good and the bad

Y. Crow, M. Rodero, E. Della Mina, 2017, Nature Immunology.

Adult-Onset ANCA-Associated Vasculitis in SAVI: Extension of the Phenotypic Spectrum, Case Report and Review of the Literature

Y. Crow, A. Liston, A. Corveleyn, 2020, Frontiers in Immunology.

The story of DNase II: A stifled death‐wish leads to self‐harm

Y. Crow, 2010, European journal of immunology.

[Type I interferonopathies].

Y. Crow, D. Bessis, L. Meunier, 2015, Annales de dermatologie et de venereologie.

[Type I interferonopathies].

Y. Crow, D. Bessis, L. Meunier, 2015, Annales de dermatologie et de venereologie.

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.

Opsoclonus‐myoclonus in Aicardi‐Goutières syndrome

Y. Crow, O. Boespflug-Tanguy, I. Melki, 2021, Developmental medicine and child neurology.

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 .

Recurrence risks in mental retardation.

Y J Crow, J. Tolmie, Y. Crow, 1998, Journal of medical genetics.

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 .

P270 Moyamoya syndrome and peripheral vascular disease due to mutation in newly described Aicardi Goutieres syndrome 5 gene SAMHD1

Y. Crow, D. Mitra, V. Ramesh, 2009 .

Phenotypic spectrum of Microcephalic osteodysplastic primordial dwarfism type Majewski II caused by mutations in the Pericentrin (PCNT) Gene

K. Devriendt, R. Hennekam, H. Brunner, 2008 .

3C syndrome

Y. Crow, E. Craft, C. Wildig, 2010, American Journal of Medical Genetics. Part A.

Understanding the evolving phenotype of vascular complications in telomere biology disorders

G. Raghu, F. Johnson, Y. Crow, 2018, Angiogenesis.

Aicardi-Goutières Syndrome: Neuroradiologic Findings and Follow-Up

Y. Crow, S. Orcesi, E. Fazzi, 2009, American Journal of Neuroradiology.

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.

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

I. Scheffer, Siddharth Srivastava, B. Bourgeois, 2023, JAMA neurology.

Familial Blau syndrome: First molecularly confirmed report from India

Y. Crow, S. Sudharshan, M. Janarthanan, 2019, Indian journal of ophthalmology.

Identification of microcephalin, a protein implicated in determining the size of the human brain

Y. Crow, A. Markham, D. Hampshire, 2002 .

Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders

Y. Crow, P. Hogarth, S. Rahman, 2020, Brain communications.

Variable Phenotype Including Leigh Syndrome with a 9185T>C Mutation in the MTATP6 Gene

Y. Crow, J. Bamford, A. Childs, 2007, Neuropediatrics.

Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene

M. Z. Cader, F. Muntoni, Y. Crow, 2006, Neurology.

Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum

Y. Crow, R. Arthur, N. Gayatri, 2006, American journal of medical genetics. Part A.

Type I interferonopathies: a novel set of inborn errors of immunity

Y. Crow, 2011, Annals of the New York Academy of Sciences.

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.

Treatment of Leukoencephalopathy With Calcifications and Cysts With Bevacizumab.

J. Shimony, Y. Crow, A. Fay, 2017, Pediatric neurology.

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation

C. Woods, Y. Crow, J. Bond, 2002, Journal of medical genetics.

Periodic Febrile Encephalopathy with Mixed Connective Tissue Disease: a Novel Phenotype?

Y. Crow, T. Briggs, P. Brogan, 2014 .