De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.

doi:10.1002/ajmg.a.64242

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.

American journal of medical genetics. Part A - 1 Jan 2026

Bradbrook Samuel M, Graham Gail, Carter Melissa T, Kibaek Maria, Fagerberg Christina, Larsen Martin J, Dawson Katherine, Meuter Cheryl, Pepler Alexander, Besnard Thomas, Vincent Marie, Isidor Bertrand, Bezieau Stephane, Cogne Benjamin, Bjørgo Kathrine, Amundsen Silja Svanstrøm, Courtin Thomas, Emrick Lisa, Rosenfeld Jill A, Weisz-Hubshman Monika, Mak Bryan C, Martinez-Agosto Julian, Heulin Mathilde, Morin Gilles, Keren Boris, Schutz Sacha, Monin Pauline, Pujalte Mathilde, Januel Louis, Lesca Gaetan, Valence Marie-Noëlle Bonnet-Dupeyron, Margot Henri, Levy Jonathan, Iovino Emmanuela, Isidori Federica, Pippucci Tommaso, Montanari Francesca, Bell Lauren, Burton Jennifer, Torti Erin, Wentzensen Ingrid M, Marcadier Julien

Abstract excerpt

Despite significant knowledge advances in recent decades, the role of most protein-coding genes in human disease remains incompletely understood. Exome sequencing continues to improve our understanding by elucidating novel genotype-phenotype associations. Across multiple healthcare centers, either exome or genome sequencing was performed in 18 patients with shared features of global developmental delay,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to DNA-Binding Proteins

Share to Exome

Share to Exome Sequencing

Share to Genetic Association Studies

Share to Intellectual Disability

Share to Neurodevelopmental Disorders

Share to Zinc Fingers

Source

Open in PubMed Open full text

Identifiers

PMID: 40936200
DOI: 10.1002/ajmg.a.64242
PMCID: PMC13270575

Genes

ZNF865

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.PMID 40936200Read ↗

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.Semantic proximity Read ↗

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.Semantic proximity Read ↗

Phenotypic spectrum in Weiss-Kruszka syndrome caused by ZNF462 variants: Three new patients and literature review.Semantic proximity Read ↗

ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review.Semantic proximity Read ↗

Expanding the clinical spectrum of biallelic ZNF335 variants.Semantic proximity Read ↗

Whole exome sequencing identifies novel predisposing genes in neural tube defectsSemantic proximity Read ↗

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.Semantic proximity Read ↗

Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism.Semantic proximity Read ↗

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.Semantic proximity Read ↗

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.Semantic proximity Read ↗

Further delineation of the SCAF4-associated neurodevelopmental disorder.Semantic proximity Read ↗

Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.