List of works by Yanick J. Crow

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

scientific article

3C syndrome

scientific article published on 01 April 2010

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

scientific article

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

scientific article

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

scientific article published on 01 October 2010

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

scientific article published in July 2008

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

scientific article

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

scientific article published in August 2001

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

scientific article

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

scientific article

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

scientific article published on 21 November 2013

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

scientific article published on 16 May 2016

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

scientific article

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

scientific article published on 2 December 2015

ASPM is a major determinant of cerebral cortical size

scientific article (publication date: October 2002)

Adult-onset familial vocal fold paralysis.

scientific article published on September 2015

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

scientific article

Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up

scientific article published on 23 July 2009

Aicardi-Goutières syndrome and the type I interferonopathies

scientific article

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

scientific article

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

scientific article published on 20 February 2008

Aicardi-Goutières syndrome presenting with haematemesis in infancy

scientific article published on 22 September 2009

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

scientific article

Aicardi-Goutières syndrome: description of a late onset case

scientific article published on August 2008

Aicardi–Goutières syndrome

scientific article published on 01 January 2013

Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease

scientific article published on 09 December 2016

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

scientific article

Atypical progeroid syndrome due to heterozygous missense LMNA mutations

scientific article published on 29 October 2009

Autoimmunity

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

Autosomal dominant juvenile recurrent parotitis.

scientific article

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

scientific article published on 04 June 2018

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

scientific article published in December 2008

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

scientific article

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

scientific article published on June 1997

Biallelic mutations in NRROS cause an early onset lethal microgliopathy

scientific article published on 25 February 2020

Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS

scientific article published on 01 April 2019

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

scientific article published in October 2009

Brief Report: Blockade of TANK-Binding Kinase 1/IKKɛ Inhibits Mutant Stimulator of Interferon Genes (STING)-Mediated Inflammatory Responses in Human Peripheral Blood Mononuclear Cells

scientific article published on 20 April 2017

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

scientific article

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

scientific article

COL4A1 mutations associated with a characteristic pattern of intracranial calcification.

scientific article published in December 2011

Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations

scientific article published on June 2011

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

scientific article published in January 2008

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

scientific article

Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Goutières syndrome.

scientific article published on 11 February 2015

Chilblains as a Diagnostic Sign of Aicardi-Goutières Syndrome

scientific article published on 01 February 2010

Chromosome 1q42 deletion and agenesis of the corpus callosum

scientific article published on 01 September 2005

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

Clinical and mutational spectrum of Mowat-Wilson syndrome.

scientific article published on 25 February 2005

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

scientific article

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

scientific article

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

scientific article

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.

scientific article

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

scientific article published on 7 April 2017

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

scientific article published in September 2004

Congenital palmar polyonychia with postaxial limb defects may be the same as the ulnar-mammary syndrome

scientific article published on 01 August 2005

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

scientific article

Cutaneous histopathological findings of AicardiGoutires syndrome, overlap with chilblain lupus

scientific article published on 17 April 2008

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

scientific article

Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction Syndrome

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

scientific article published on 18 April 2017

Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies

scientific article published on 14 July 2012

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

scientific article published on 3 January 2017

Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition.

scientific article

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

scientific article published on 20 August 2016

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

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

scientific article published on 18 August 2009

Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome

scientific article published on 13 February 2013

Enlarging the clinical spectrum of SAVI syndrome.

scientific article published on 28 September 2015

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

scientific article published on 29 April 2016

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

scientific article published on 01 January 2017

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

scientific article published in Nature

Expanding the clinical spectrum of SLC29A3 gene defects

article

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

scientific article published on 03 July 2013

Familial Aicardi-Goutières syndrome due toSAMHD1mutations is associated with chronic arthropathy and contractures

scientific article published on 01 April 2010

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

scientific article published on 27 December 2016

Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum

scientific article published in January 2007

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

scientific article

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

scientific article published on 30 March 2014

Genetic syndromes mimic congenital infections

scientific article published on 01 May 2005

Genetic syndromes that mimic congenital infections: report of 2 cases

scientific article published on 2 October 2011

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

scientific article published on 23 September 2005

HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase

scientific article

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

scientific article published on 19 February 2007

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

scientific article published on 13 August 2016

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

scientific article published on 30 November 2011

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

scientific article published on 20 June 2016

Human disease phenotypes associated with mutations in TREX1.

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 28 September 2015

Infantile neurological Degos disease.

scientific article published on 24 July 2010

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

scientific article published on January 2009

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

scientific article

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

article

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

scientific article published on 30 December 2013

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

scientific article

JAK inhibition in STING-associated interferonopathy

article

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

scientific article

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

scientific article published on 24 October 2016

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

scientific article published on 07 October 2020

Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.

scientific article published on 9 January 2014

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

scientific article published on 24 August 2018

Lupus: How much “complexity” is really (just) genetic heterogeneity?

article

Maternal serum alpha-fetoprotein levels in congenital nephrosis

scientific article published on 01 November 1997

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

scientific article published in May 2005

Mitochondrial double-stranded RNA triggers antiviral signalling in humans

scientific article published in Nature

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

scientific article published on 17 March 2011

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

scientific article published on August 2015

Mosaic structural variation in children with developmental disorders

scientific article

Mosaic tetrasomy 9p: a mendelian interferonopathy associated with pediatric-onset overlap myositis

scientific article published on 28 September 2015

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

scientific article

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

scientific article

Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia

scientific article

Mutations in CECR1 associated with a neutrophil signature in peripheral blood

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 29 August 2016

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

scientific article

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

scientific article

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits [published erratum appears in Hum Mol Genet 1998 Apr;7(4):765]

article

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

scientific article

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

scientific article

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

scientific article

Natural history of cardiac involvement in geleophysic dysplasia.

scientific article published in January 2005

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

scientific article published on 19 September 2016

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

scientific article published on 7 November 2006

Neuromyelitis optica in a child with Aicardi-Goutières syndrome

scientific article published in July 2015

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

scientific article published on 18 November 2015

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

scientific article published on 01 April 2010

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

article

Novel monogenic diseases causing human autoimmunity

scientific article published on 08 August 2015

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

scientific article published on 17 September 2014

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

scientific article published on 2 April 2015

PReS-FINAL-2173: Protein kinase C delta deficiency is a new cause of monogenic SLE.

scientific article published on 5 December 2013

PReS13-SPK-1034: looking for new monogenic forms of lupus.

scientific article published on 5 December 2013

Paediatric stroke: genetic insights into disease mechanisms and treatment targets

scientific article published on March 2011

Phenotypic variation in familial chilblain lupus (FCL) and Aicardi-Goutières syndrome (AGS) associated with TREX1 mutation in 4 family members

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

article

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

scientific article

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

scientific article

Recognizable phenotypes associated with intracranial calcification

scientific article published on November 2012

Recurrence risks in mental retardation

scientific article

Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study

scientific article published in March 2007

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

scientific article

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

scientific article

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

scientific article

SAMHD1-dependent retroviral control and escape in mice.

scientific article published on 19 July 2013

STING-Associated Vasculopathy with Onset in Infancy — A New Interferonopathy

scientific article published on 16 July 2014

Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum.

scientific article published in September 2006

Sequencing revolution

Severe neonatal-onset panniculitis in a female infant with Prader-Willi syndrome

scientific article published on 03 November 2011

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

scientific article published on September 1998

Singleton-Merten Syndrome: a rare autoimmune disorder caused by a specific IFIH1 mutation.

scientific article

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

scientific article

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

scientific article published on 20 May 2015

Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation inRNASEH2C

article

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.

scientific article published on 13 May 2013

Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy

scientific article published on 7 May 2013

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

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

scientific article

The eukaryotic elongation factor eEF1A1 interacts with SAMHD1.

scientific article

The genetics of Aicardi-Goutières syndrome.

scientific article published in January 2002

The story of DNase II: a stifled death-wish leads to self-harm

scientific article

Therapies in Aicardi-Goutières syndrome.

scientific article published on January 2014

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

scientific article

Treatment of Leukoencephalopathy With Calcifications and Cysts With Bevacizumab

scientific article published on 23 March 2017

Treatments in Aicardi-Goutières syndrome

scientific article published on 07 June 2019

Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation

scientific article published on 01 November 2008

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

scientific article

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

scientific article published on 01 November 2011

Type I interferonopathies: mendelian type I interferon up-regulation

scientific article

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

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

scientific article published on 06 April 2015

Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.

scientific article published in December 2007

[Type I interferonopathies].

scientific article

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

scientific article published on 23 November 2020

cGMP-AMP synthase paves the way to autoimmunity

scientific article

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

scientific article

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