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Research Studies

Our POGZ Research Hub 

01.

PMID: 38350721

Exploring the molecular pathways linking sleep phenotypes and POGZ-associated neurodevelopmental disorder

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02.

PMID: 35367590

Loss of POGZ alters neural differentiation of human embryonic stem cells

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03.

PMID: 35052493

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring

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04.

PMID: 34206215

Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome (POGZ): Case Report and Review of the Literature

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05.

PMID: 33726803

Intranasal oxytocin administration ameliorates social behavioral deficits in a POGZ<sup>WT/Q1038R</sup> mouse model of autism spectrum disorder

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06.

PMID: 33277917

Neuropsychological study in 19 French patients with White–Sutton syndrome and POGZ mutations

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07.

PMID:  32359026

A novel patient with White–Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype

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08.

PMID: 31782611

Phenotypic expansion of POGZ-related intellectual disability syndrome (White–Sutton syndrome)

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09.

PMID: 34879283

Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes

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10.

PMID: 37494184

POGZ suppresses 2C transcriptional program and retrotransposable elements

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11.

PMID: 34758190

POGZ promotes homology-directed DNA repair in an HP1-dependent manner

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12.

PMID: 31196716

Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development

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13.

PMID: 31347273

POGZ de novo missense variants in neuropsychiatric disorders

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14.

PMID: 26739615

POGZ truncating alleles cause syndromic intellectual disability (White–Sutton syndrome)

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15.

PMID: 26763879

A novel de novo POGZ mutation in a patient with intellectual disability

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16.

PMID: 20562864

Human POGZ modulates dissociation of HP1alpha from mitotic chromosome arms through Aurora B activation

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17.

PMID: 20562864

Human POGZ modulates dissociation of HP1alpha from mitotic chromosome arms through Aurora B activation

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Details

18.

PMID: 26739615

POGZ truncating alleles cause syndromic intellectual disability

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Details

19.

PMID: 26763879

A novel de novo POGZ mutation in a patient with intellectual disability

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Details

20.

PMID: 27103995

De novo POGZ mutations in sporadic autism disrupt the DNA-binding activity of POGZ

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Details

21.

PMID: 27148570

De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly

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Details

22.

PMID: 28480548

Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism

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Details

23.

PMID: 31196716

Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development

External Link
Details

24.

PMID: 31347273

POGZ de novo missense variants in neuropsychiatric disorders

External Link
Details

25.

PMID: 31782611

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome)

External Link
Details

26.

PMID: 32103003

Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes

External Link
Details

27.

PMID: 33203851

Pogz deficiency leads to transcription dysregulation and impaired cerebellar activity underlying autism-like behavior in mice

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Details

28.

PMID: 33277917

Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations

External Link
Details

29.

PMID: 33726803

Intranasal oxytocin administration ameliorates social behavioral deficits in a POGZWT/Q1038R mouse model of autism spectrum disorder

External Link
Details

30.

PMID: 34206215

Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome (POGZ): Case Report and Review of the Literature

External Link
Details

31.

PMID: 34758190

POGZ promotes homology-directed DNA repair in an HP1-dependent manner

External Link
Details

32.

PMID: 34879283

Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes

External Link
Details

33.

PMID: 35052493

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring

External Link
Details

34.

PMID: 35367590

Loss of POGZ alters neural differentiation of human embryonic stem cells

External Link
Details

35.

PMID: 35396900

A novel, de novo intronic variant in POGZ causes White-Sutton syndrome through haploinsufficiency

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Details

36.

PMID: 35650610

Autism-associated protein POGZ controls ESCs and neural gene expression during differentiation

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37.

PMID: 35948257

Congenital corneal opacities as a new feature in an unusual case of White-Sutton syndrome

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38.

PMID: 36658409

Chromodomain on Y-like 2 (CDYL2) implicated in mitosis and genome stability regulation via interaction with CHAMP1 and POGZ

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Details

39.

PMID: 37494184

POGZ suppresses 2C transcriptional program and retrotransposable elements

External Link
Details

40.

PMID: 37619992

Congenital hypogonadotropic hypogonadism in a patient with a de novo POGZ mutation

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Details

41.

PMID: 38350721

Exploring the molecular pathways linking sleep phenotypes and POGZ-associated neurodevelopmental disorder

External Link
Details

42.

PMID: 27103995

De novo POGZ mutations in sporadic autism disrupt the DNA-binding activity of POGZ

External Link
Details

43.

PMID: 27148570

De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly

External Link
Details

44.

PMID: 32103003

Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes

External Link
Details

45.

PMID: 35948257

Congenital corneal opacities as a new feature in an unusual case of White-Sutton syndrome

External Link
Details

46.

PMID: 41279137

CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling

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Details

47.

PMID: 39829763

The zinc-finger protein POGZ associates with Polycomb repressive complex 1 to regulate BMP signaling during neuronal differentiation

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48.

PMID: 39829763

The zinc-finger protein POGZ associates with Polycomb repressive complex 1 to regulate bone morphogenetic protein signaling during neuronal differentiation (preprint)

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49.

PMID: 41279137

CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling (preprint)

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Details
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