Varaico: Literature-Extracted Genetic Variants

Gene:ZMYND11
Variant:p.R600W
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ZMYND11

NM_001370100.5:p.R600W

Associated Papers

ZMYND11 Restrains KMT2A to Enable a Neuronal Developmental Program.

Greben AW et al.

Biorxiv : the Preprint Server for Biology, 2025

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Zech M et al.

Brain : a Journal of Neurology, 2025

39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf

Clinically relevant variants detected in Chinese children with global developmental delay/intellectual disability: An exome-wide sequencing study.

Qiao Y et al.

Genes & Diseases, 2025

40212794 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Probing the biological consequences of a previously undescribed de novo mutation of ZMYND11 in a schizophrenia patient by CRISPR genome editing and induced pluripotent stem cell based in vitro disease-modeling.

Tordai C et al.

Schizophrenia Research, 2024

Clinical variants paired with phenotype: A rich resource for brain gene curation.

Chopra M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

38059438 (PubMed )
Supplement: NIHMS1951004-supplement-1.xlsx › All_Variants

Untangling neurodevelopmental disorders in the adulthood: a movement disorder is the clue.

Indelicato E et al.

Orphanet Journal of Rare Diseases, 2022

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8

ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.

Yates TM et al.

Human Mutation, 2020

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.

Elliott AM et al.

European Journal of Pediatrics, 2019

Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome.

Tumiene B et al.

Journal of Applied Genetics, 2017

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.

Moskowitz AM et al.

Cold Spring Harbor Molecular Case Studies, 2016

A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability.

Cobben JM et al.

European Journal of Medical Genetics, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."