Lista de obras - Michael Simpson - Dominio Público Uruguay

A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis

artículo científico publicado en 2012

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.

artículo científico publicado en 2013

A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle.

artículo científico publicado en 2008

A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14.

artículo científico publicado en 2005

A three-stage genome-wide association study of general cognitive ability: hunting the small effects.

artículo científico publicado en 2010

AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking

artículo científico publicado en 2014

Acne and Telomere Length: A New Spectrum Between Senescence and Apoptosis Pathways

artículo científico publicado en 2016

Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A.

artículo científico publicado en 2013

Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.

artículo científico publicado en 2012

An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element.

artículo científico publicado en 2013

Assessment of Minimal Residual Disease in Standard-Risk AML.

artículo científico publicado en 2016

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome

artículo científico publicado en 2015

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

artículo científico publicado en 2018

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

artículo científico publicado en 2017

Candidate driver genes involved in genome maintenance and DNA repair in Sézary syndrome.

artículo científico publicado en 2016

Cardiac Genetic Predisposition in Sudden Infant Death Syndrome

scientific article published on 01 March 2018

Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset

artículo científico publicado en 2005

Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3

artículo científico publicado en 2017

Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1)

scientific article published on 01 February 2019

De novo mutation associated with mitochondrial epilepsy syndrome with fever sensitivity

scientific article published on 02 August 2018

De novo mutations implicate novel genes in Systemic Lupus Erythematosus.

artículo científico publicado en 2017

De novo mutations in MLL cause Wiedemann-Steiner syndrome

artículo científico publicado en 2012

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome

artículo científico publicado en 2012

De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

artículo científico publicado en 2019

Defective mitochondrial mRNA maturation is associated with spastic ataxia

artículo científico publicado en 2010

Defects of CRB2 cause steroid-resistant nephrotic syndrome.

artículo científico publicado en 2014

Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease

artículo científico publicado en 2013

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

scientific article published on 25 August 2013

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.

artículo científico publicado en 2018

EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features

artículo científico publicado en 2015

Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1.

artículo científico publicado en 2016

Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons.

artículo científico publicado en 2006

Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects

artículo científico publicado en 2013

Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR

artículo científico publicado en 2014

Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes

scientific article published on 30 May 2018

Exome sequencing and genotyping identify a rare variant in NLRP7 gene associated with ulcerative colitis.

artículo científico publicado en 2017

Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow up.

artículo científico publicado en 2015

Exome-Wide Rare Variant Analyses in Sudden Infant Death Syndrome

artículo científico publicado en 2018

Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling

artículo científico publicado en 2017

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

artículo científico publicado en 2014

Fine mapping genetic associations between the HLA region and extremely high intelligence

artículo científico publicado en 2017

Frontal fibrosing alopecia: reflections and hypotheses on aetiology and pathogenesis

artículo científico publicado en 2016

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies

artículo científico publicado en 2011

Generalized pustular eruptions: time to adapt the disease taxonomy to the genetic architecture?

artículo científico publicado en 2013

Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype

article

Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.

artículo científico publicado en 2014

Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02

artículo científico publicado en 2019

Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne

artículo científico publicado en 2018

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

artículo científico publicado en 2017

Germline FH mutations presenting with pheochromocytoma.

artículo científico publicado en 2014

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility

artículo científico publicado en 2012

Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma.

artículo científico publicado en 2015

HLA-C*06:02 genotype is a predictive biomarker of biologic treatment response in psoriasis

artículo científico publicado en 2018

Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility.

artículo científico publicado en 2017

Homozygous missense mutation in IL36RN in generalized pustular dermatosis with intraoral involvement compatible with both AGEP and generalized pustular psoriasis

artículo científico publicado en 2015

Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish.

artículo científico publicado en 2008

Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.

artículo científico publicado en 2008

Identification of Rare, Disease-Associated Variants in the Promoter Region of the RNF114 Psoriasis Susceptibility Gene

article

Impact of next generation sequencing on diagnostics in a genetic skin disease clinic

artículo científico publicado en 2013

Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series

artículo científico publicado en 2018

Induced Pluripotent Stem Cell Differentiation and Three-Dimensional Tissue Formation Attenuate Clonal Epigenetic Differences in Trichohyalin

artículo científico publicado en 2016

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

artículo científico publicado en 2004

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

artículo científico publicado en 2015

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.

artículo científico publicado en 2017

Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis

artículo científico publicado en 2016

Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3.

artículo científico publicado en 2009

MAGI2 Mutations Cause Congenital Nephrotic Syndrome

artículo científico publicado en 2016

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

artículo científico publicado en 2013

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia

artículo científico publicado en 2003

Massively parallel sequencing and identification of genes for primary lymphoedema: a perfect fit.

scientific article published on 13 June 2011

Mutation in is associated with severe congenital thrombocytopenia

Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema.

artículo científico publicado en 2013

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

artículo científico publicado en 2017

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

article by Pia Ostergaard et al published 4 September 2011 in Nature Genetics

Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome

artículo científico publicado en 2014

Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.

artículo científico publicado en 2011

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy

artículo científico publicado en 2012

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

artículo científico publicado en 2011

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia

artículo científico publicado en 2016

Mutations in TJP2 cause progressive cholestatic liver disease

artículo científico publicado en 2014

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia

artículo científico publicado en 2013

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

scientific journal article

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

artículo científico publicado en 2017

Mutations in the γ-Secretase Genes NCSTN , PSENEN , and PSEN1 Underlie Rare Forms of Hidradenitis Suppurativa (Acne Inversa)

article

Negligible impact of rare autoimmune-locus coding-region variants on missing heritability

artículo científico publicado en 2013

Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic Disease

artículo científico publicado en 2015

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

artículo científico publicado en 2017

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes

artículo científico publicado en 2012

Next-generation diagnostics for genodermatoses.

artículo científico publicado en 2012

Noncardiac genetic predisposition in sudden infant death syndrome

scientific article published on 24 August 2018

Novel ADA2 mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 (DADA2)

scientific article published on 28 March 2019

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

artículo científico publicado en 2017

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.

artículo científico publicado en 2016

Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.

artículo científico publicado en 2017

Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis

artículo científico publicado en 2015

Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy

artículo científico publicado en 2005

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

artículo científico publicado en 2015

Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families

artículo científico publicado en 2007

PIK3CA mutations are common in lobular carcinoma in situ, but are not a biomarker of progression.

scientific article published on 17 January 2017

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

artículo científico publicado en 2017

PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa).

artículo científico publicado en 2011

Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.

artículo científico publicado en 2016

Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing.

artículo científico publicado en 2013

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

artículo científico publicado en 2020

Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes

artículo científico publicado en 2015

Predicting the functional consequences of non-synonymous DNA sequence variants--evaluation of bioinformatics tools and development of a consensus strategy

artículo científico publicado en 2013

Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinent.

artículo científico publicado en 2010

Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes.

artículo científico publicado en 2013

Rare variations in IL36RN in severe adverse drug reactions manifesting as acute generalized exanthematous pustulosis.

artículo científico publicado en 2013

Recessive mutation in FAM83G associated with palmoplantar keratoderma and exuberant scalp hair

artículo científico publicado en 2017

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

artículo científico publicado en 2012

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

scientific journal article

Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome.

artículo científico publicado en 2012

Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.

artículo científico publicado en 2016

Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration

artículo científico publicado en 2008

Text-mined phenotype annotation and vector-based similarity to improve identification of similar phenotypes and causative genes in monogenic disease patients

artículo científico publicado en 2018

The ADAMTS13-VWF axis is dysregulated in chronic thromboembolic pulmonary hypertension

artículo científico publicado en 2019

The ErbB4 CYT2 variant protects EGFR from ligand-induced degradation to enhance cancer cell motility

artículo científico publicado en 2014

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome

artículo científico publicado en 2014

The future of genomics for developmentalists

artículo científico publicado en 2013

The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome

artículo científico publicado en 2013

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.

artículo científico publicado en 2015

Tissue and Circulating MicroRNA Co-expression Analysis Shows Potential Involvement of miRNAs in the Pathobiology of Frontal Fibrosing Alopecia

artículo científico publicado en 2017

Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54).

artículo científico publicado en 2015

WNT10A mutation results in severe tooth agenesis in a family of three sisters

artículo científico publicado en 2018

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects

artículo científico publicado en 2016

Lista de obras de Michael Simpson

A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.

A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle.

A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14.

A three-stage genome-wide association study of general cognitive ability: hunting the small effects.

AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking

Acne and Telomere Length: A New Spectrum Between Senescence and Apoptosis Pathways

Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A.

Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.

An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element.

Assessment of Minimal Residual Disease in Standard-Risk AML.

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

Candidate driver genes involved in genome maintenance and DNA repair in Sézary syndrome.

Cardiac Genetic Predisposition in Sudden Infant Death Syndrome

Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset

Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3

Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1)

De novo mutation associated with mitochondrial epilepsy syndrome with fever sensitivity

De novo mutations implicate novel genes in Systemic Lupus Erythematosus.

De novo mutations in MLL cause Wiedemann-Steiner syndrome

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome

De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

Defective mitochondrial mRNA maturation is associated with spastic ataxia

Defects of CRB2 cause steroid-resistant nephrotic syndrome.

Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.

EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features

Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1.

Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons.

Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects

Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR

Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes

Exome sequencing and genotyping identify a rare variant in NLRP7 gene associated with ulcerative colitis.

Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow up.

Exome-Wide Rare Variant Analyses in Sudden Infant Death Syndrome

Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

Fine mapping genetic associations between the HLA region and extremely high intelligence

Frontal fibrosing alopecia: reflections and hypotheses on aetiology and pathogenesis

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies

Generalized pustular eruptions: time to adapt the disease taxonomy to the genetic architecture?

Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype

Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.

Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02

Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

Germline FH mutations presenting with pheochromocytoma.

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility

Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma.

HLA-C*06:02 genotype is a predictive biomarker of biologic treatment response in psoriasis

Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility.

Homozygous missense mutation in IL36RN in generalized pustular dermatosis with intraoral involvement compatible with both AGEP and generalized pustular psoriasis

Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish.

Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.

Identification of Rare, Disease-Associated Variants in the Promoter Region of the RNF114 Psoriasis Susceptibility Gene

Impact of next generation sequencing on diagnostics in a genetic skin disease clinic

Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series

Induced Pluripotent Stem Cell Differentiation and Three-Dimensional Tissue Formation Attenuate Clonal Epigenetic Differences in Trichohyalin

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.

Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis

Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3.

MAGI2 Mutations Cause Congenital Nephrotic Syndrome

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia

Massively parallel sequencing and identification of genes for primary lymphoedema: a perfect fit.

Mutation in is associated with severe congenital thrombocytopenia

Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome

Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss