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De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

https://doi.org/10.1038/ng.868
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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1001/archpedi.1975.02120480062016openalex-snapshot
The Opitz Trigonocephaly Syndrome
inferredcites →https://doi.org/10.1002/ajmg.a.31265openalex-snapshot
New cases of Bohring–Opitz syndrome, update, and critical review of the literature
inferredcites →https://doi.org/10.1016/j.ajhg.2010.06.002openalex-snapshot
Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome
inferredcites →https://doi.org/10.1016/j.ajhg.2010.08.004openalex-snapshot
Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome
inferredcites →https://doi.org/10.1016/j.ejmg.2007.03.004openalex-snapshot
Transmitted cytogenetic abnormalities in patients with mental retardation: Pathogenic or normal variants?
inferredcites →https://doi.org/10.1016/j.ydbio.2009.10.004openalex-snapshot
Additional sex combs-like 1 belongs to the enhancer of trithorax and polycomb group and genetically interacts with Cbx2 in mice
inferredcites →https://doi.org/10.1038/ejhg.2010.234openalex-snapshot
Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis
inferredcites →https://doi.org/10.1038/leu.2010.20openalex-snapshot
Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia
inferredcites →https://doi.org/10.1038/ng.581openalex-snapshot
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
inferredcites →https://doi.org/10.1038/ng.646openalex-snapshot
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
inferredcites →https://doi.org/10.1038/sj.onc.1203728openalex-snapshot
Chromosome 20 deletions in myeloid malignancies: reduction of the common deleted region, generation of a PAC/BAC contig and identification of candidate genes
inferredcites →https://doi.org/10.1086/522014openalex-snapshot
Mutations in CD96, a Member of the Immunoglobulin Superfamily, Cause a Form of the C (Opitz Trigonocephaly) Syndrome
inferredcites →https://doi.org/10.1111/j.1365-2141.2010.08381.xopenalex-snapshot
ASXL1 mutation is associated with poor prognosis and acute transformation in chronic myelomonocytic leukaemia

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

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De Novo Mutations Promote Inflammation in Children with Stat3 Gain-of-Functionsyndrome by Affecting Il-1β Expression
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The Mutational Spectrum of Neurodevelopmental Disorders
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The myelodysplastic syndromes
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Variant Interpretation and Genomic Medicine
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Two novel patients with Bohring–Opitz syndrome caused by de novo ASXL1 mutations
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Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene
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Early presentation of cystic kidneys in a family with a homozygous INVS mutation
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Clinical management of patients with ASXL1 mutations and Bohring–Opitz syndrome, emphasizing the need for Wilms tumor surveillance
inferred← citeshttps://doi.org/10.1002/ajmg.a.37342openalex-snapshot
Bohring–Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome
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Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring–Opitz syndromes
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Novel splicing mutation in the ASXL3 gene causing Bainbridge–Ropers syndrome
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Lethal persistent pulmonary hypertension of the newborn in Bohring–Opitz syndrome
inferred← citeshttps://doi.org/10.1002/ajmg.a.38686openalex-snapshot
Bohring‐Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother
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Extending the phenotypic spectrum of Bohring‐Opitz syndrome: Mild case confirmed by functional studies
inferred← citeshttps://doi.org/10.1002/ajmg.a.62156openalex-snapshot
Understanding the phenotypic spectrum of ASXL ‐related disease: Ten cases and a review of the literature
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Clinical findings in 39 individuals with Bohring–Opitz syndrome from a global patient‐driven registry with implications for tumor surveillance and recurrence risk
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Chromatin regulators in neurodevelopment and disease: Analysis of fly neural circuits provides insights
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Prognosis and risk factors for ASXL1 mutations in patients with newly diagnosed acute myeloid leukemia and myelodysplastic syndrome
inferred← citeshttps://doi.org/10.1002/ccr3.1603openalex-snapshot
The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome
inferred← citeshttps://doi.org/10.1002/dvg.22793openalex-snapshot
Additional sex combs‐like family genes are required for normal cardiovascular development
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Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders
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Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome?
inferred← citeshttps://doi.org/10.1002/humu.23203openalex-snapshot
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome
inferred← citeshttps://doi.org/10.1002/humu.23295openalex-snapshot
The role of de novo mutations in the development of amyotrophic lateral sclerosis
inferred← citeshttps://doi.org/10.1002/jcla.24388openalex-snapshot
Rapid progression of myelofibrosis in polycythemia vera patient carrying SRSF2 c.284C>A p.(Pro95His) and unique ASXL1 splice site c.1720‐2A>G variant
inferred← citeshttps://doi.org/10.1002/mgg3.1755openalex-snapshot
Interstitial duplication of 20q11.22q13.11: A case report and review of literature
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A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders
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inferred← citeshttps://doi.org/10.1007/s00018-019-03084-7openalex-snapshot
The role of ASXL1 in hematopoiesis and myeloid malignancies
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Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective
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H2A monoubiquitination: insights from human genetics and animal models
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Exom-Sequenzierung zur Identifizierung von Krankheitsgenen
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NGS: Gestern, heute und morgen
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Disordered Epigenetic Regulation in the Pathophysiology of Myeloproliferative Neoplasms
inferred← citeshttps://doi.org/10.1007/s11899-022-00665-5openalex-snapshot
Germline Abnormalities in DNA Methylation and Histone Modification and Associated Cancer Risk
inferred← citeshttps://doi.org/10.1007/s12015-024-10737-zopenalex-snapshot
Generation and Characterization of Induced Pluripotent Stem Cells Carrying An ASXL1 Mutation
inferred← citeshttps://doi.org/10.1007/s12041-019-1155-5openalex-snapshot
A de novo truncating mutation in ASXL1 associated with segmental overgrowth
inferred← citeshttps://doi.org/10.1007/s12094-015-1379-7openalex-snapshot
Familial hematological malignancies: ASXL1 gene investigation
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Perithyroidal Salivary Gland Acinic Cell Carcinoma: Morphological and Molecular Attributes of a Unique Lesion
inferred← citeshttps://doi.org/10.1007/s12185-018-2563-7openalex-snapshot
Aberrant histone modifications induced by mutant ASXL1 in myeloid neoplasms
inferred← citeshttps://doi.org/10.1007/s12185-023-03586-yopenalex-snapshot
Epigenetic regulation by ASXL1 in myeloid malignancies
inferred← citeshttps://doi.org/10.1007/s12414-011-0078-8openalex-snapshot
Ontwikkelingen in genetische diagnostiek van verstandelijke beperking
inferred← citeshttps://doi.org/10.1007/s12456-014-0005-xopenalex-snapshot
Exoom-sequencing in de diagnostiek van ontwikkelingsachterstand/verstandelijke beperking
inferred← citeshttps://doi.org/10.1007/s40484-013-0009-zopenalex-snapshot
Systems biomedicine: It’s your turn —Recent progress in systems biomedicine
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The Role of ASXL1/2 and Their Associated Proteins in Malignant Hematopoiesis
inferred← citeshttps://doi.org/10.1016/b978-0-12-417114-5.00018-8openalex-snapshot
Epigenetics in Intellectual Disability
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Pediatric Diseases and Epigenetics
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Abnormal Body Size and Proportion
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A contemporary view on the molecular basis of neurodevelopmental disorders
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Epigenetics in intellectual disability
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Pediatric diseases and epigenetics
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Epilepsy
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Genetic mechanisms of neurodevelopmental disorders
inferred← citeshttps://doi.org/10.1016/j.ajhg.2012.01.011openalex-snapshot
2011 William Allan Award Introduction: John M. Opitz 1
inferred← citeshttps://doi.org/10.1016/j.ajhg.2012.04.014openalex-snapshot
Cantú Syndrome Is Caused by Mutations in ABCC9
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Mutations in ANTXR1 Cause GAPO Syndrome
inferred← citeshttps://doi.org/10.1016/j.ajhg.2015.07.006openalex-snapshot
A Genetic-Pathophysiological Framework for Craniosynostosis
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2015 ASHG Awards and Addresses
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Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
inferred← citeshttps://doi.org/10.1016/j.ajhg.2016.08.017openalex-snapshot
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
inferred← citeshttps://doi.org/10.1016/j.ajhg.2017.01.013openalex-snapshot
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
inferred← citeshttps://doi.org/10.1016/j.ajhg.2017.05.013openalex-snapshot
Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life
inferred← citeshttps://doi.org/10.1016/j.ajhg.2018.09.012openalex-snapshot
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features
inferred← citeshttps://doi.org/10.1016/j.ajhg.2020.02.001openalex-snapshot
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders
inferred← citeshttps://doi.org/10.1016/j.bbagrm.2024.195033openalex-snapshot
To Ub or not to Ub: The epic dilemma of histones that regulate gene expression and epigenetic cross-talk
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Positive regulation of additional sex comb-like 1 gene expression by the pluripotency factor SOX2
inferred← citeshttps://doi.org/10.1016/j.bbrc.2013.11.124openalex-snapshot
Reciprocal regulation of LXRα activity by ASXL1 and ASXL2 in lipogenesis
inferred← citeshttps://doi.org/10.1016/j.bbrc.2014.07.080openalex-snapshot
WTIP interacts with ASXL2 and blocks ASXL2-mediated activation of retinoic acid signaling
inferred← citeshttps://doi.org/10.1016/j.bbrc.2015.09.077openalex-snapshot
Role of Asxl1 in kidney podocyte development via its interaction with Wtip
inferred← citeshttps://doi.org/10.1016/j.cca.2014.07.016openalex-snapshot
Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease
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Cancer Genetics and Epigenetics: Two Sides of the Same Coin?
inferred← citeshttps://doi.org/10.1016/j.ccr.2012.06.032openalex-snapshot
ASXL1 Mutations Promote Myeloid Transformation through Loss of PRC2-Mediated Gene Repression
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Wilms tumour surveillance in at-risk children: Literature review and recommendations from the SIOP-Europe Host Genome Working Group and SIOP Renal Tumour Study Group
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Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders
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Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases
inferred← citeshttps://doi.org/10.1016/j.ejmg.2019.02.007openalex-snapshot
Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome
inferred← citeshttps://doi.org/10.1016/j.ejmg.2020.103849openalex-snapshot
A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features
inferred← citeshttps://doi.org/10.1016/j.ejmg.2021.104155openalex-snapshot
Novel truncating mutations in ASXL1 identified in two boys with Bohring-Opitz syndrome
inferred← citeshttps://doi.org/10.1016/j.ejmg.2022.104454openalex-snapshot
A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi–Pena syndrome
inferred← citeshttps://doi.org/10.1016/j.gde.2013.01.007openalex-snapshot
Point mutations as a source of de novo genetic disease
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The pathogenesis of congenital radial head dislocation/subluxation
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De novo mutations promote inflammation in children with STAT3 gain-of-function syndrome by affecting IL-1β expression
inferred← citeshttps://doi.org/10.1016/j.jmb.2021.167242openalex-snapshot
Oncogenic Truncations of ASXL1 Enhance a Motif for BRD4 ET-Domain Binding
inferred← citeshttps://doi.org/10.1016/j.molcel.2013.06.005openalex-snapshot
RETRACTED: Histone H2B Ubquitination Regulates Retinoic Acid Signaling through the Cooperation of ASXL1 and BAP1
inferred← citeshttps://doi.org/10.1016/j.molcel.2019.03.018openalex-snapshot
An Adversarial DNA N6-Methyladenine-Sensor Network Preserves Polycomb Silencing
inferred← citeshttps://doi.org/10.1016/j.molcel.2021.06.020openalex-snapshot
BAP1 enhances Polycomb repression by counteracting widespread H2AK119ub1 deposition and chromatin condensation
inferred← citeshttps://doi.org/10.1016/j.neuropharm.2013.12.025openalex-snapshot
The genetics of cognitive epigenetics
inferred← citeshttps://doi.org/10.1016/j.nrl.2017.01.022openalex-snapshot
Retraso global del desarrollo y microcefalia posnatal: síndrome de Bainbridge-Ropers con una nueva variante de novo en ASXL3
inferred← citeshttps://doi.org/10.1016/j.nrleng.2017.01.005openalex-snapshot
Global developmental delay and postnatal microcephaly: Bainbridge-Ropers syndrome with a new mutation in ASXL3
inferred← citeshttps://doi.org/10.1016/j.ophtha.2013.07.052openalex-snapshot
Mutations in the Mevalonate Kinase (MVK) Gene Cause Nonsyndromic Retinitis Pigmentosa
inferred← citeshttps://doi.org/10.1016/j.pharmthera.2012.11.002openalex-snapshot
Epigenetic modifications by dietary phytochemicals: Implications for personalized nutrition
inferred← citeshttps://doi.org/10.1016/j.semcancer.2016.11.005openalex-snapshot
Genome analyses identify the genetic modification of lung cancer subtypes
inferred← citeshttps://doi.org/10.1016/j.stemcr.2016.04.013openalex-snapshot
Loss of Asxl1 Alters Self-Renewal and Cell Fate of Bone Marrow Stromal Cells, Leading to Bohring-Opitz-like Syndrome in Mice
inferred← citeshttps://doi.org/10.1016/j.str.2018.11.013openalex-snapshot
Structural Basis for the Activation of the Deubiquitinase Calypso by the Polycomb Protein ASX
inferred← citeshttps://doi.org/10.1016/j.tig.2017.06.002openalex-snapshot
Histone H2A Monoubiquitination in Neurodevelopmental Disorders
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From chromatin dynamics to brain disease: Polycomb–Trithorax mechanisms in neurodevelopment
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The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders
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Functional and cancer genomics of ASXL family members
inferred← citeshttps://doi.org/10.1038/ejhg.2011.258openalex-snapshot
Disease gene identification strategies for exome sequencing
inferred← citeshttps://doi.org/10.1038/ejhg.2016.165openalex-snapshot
Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition
inferred← citeshttps://doi.org/10.1038/ejhg.2017.86openalex-snapshot
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
inferred← citeshttps://doi.org/10.1038/gim.2014.191openalex-snapshot
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
inferred← citeshttps://doi.org/10.1038/gim.2017.50openalex-snapshot
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders
inferred← citeshttps://doi.org/10.1038/hgv.2017.50openalex-snapshot
The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features
inferred← citeshttps://doi.org/10.1038/jhg.2012.91openalex-snapshot
Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders
inferred← citeshttps://doi.org/10.1038/leu.2012.288openalex-snapshot
The ASXL–BAP1 axis: new factors in myelopoiesis, cancer and epigenetics
inferred← citeshttps://doi.org/10.1038/mp.2012.58openalex-snapshot
A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease
inferred← citeshttps://doi.org/10.1038/ncomms10292openalex-snapshot
BAP1/ASXL1 recruitment and activation for H2A deubiquitination
inferred← citeshttps://doi.org/10.1038/ncomms8307openalex-snapshot
Cancer-associated ASXL1 mutations may act as gain-of-function mutations of the ASXL1–BAP1 complex
inferred← citeshttps://doi.org/10.1038/ng.1091openalex-snapshot
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
inferred← citeshttps://doi.org/10.1038/ng.2917openalex-snapshot
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability
inferred← citeshttps://doi.org/10.1038/nn.3703openalex-snapshot
Prioritization of neurodevelopmental disease genes by discovery of new mutations
inferred← citeshttps://doi.org/10.1038/nrg3241openalex-snapshot
De novo mutations in human genetic disease
inferred← citeshttps://doi.org/10.1038/nrg3999openalex-snapshot
Genetic studies in intellectual disability and related disorders
inferred← citeshttps://doi.org/10.1038/s41375-018-0198-6openalex-snapshot
Modeling ASXL1 mutation revealed impaired hematopoiesis caused by derepression of p16Ink4a through aberrant PRC1-mediated histone modification
inferred← citeshttps://doi.org/10.1038/s41419-018-1171-zopenalex-snapshot
Asxl1 exerts an antiproliferative effect on mouse lung maturation via epigenetic repression of the E2f1-Nmyc axis
inferred← citeshttps://doi.org/10.1038/s41421-017-0004-zopenalex-snapshot
Loss of ASXL1 in the bone marrow niche dysregulates hematopoietic stem and progenitor cell fates
inferred← citeshttps://doi.org/10.1038/s41431-022-01083-0openalex-snapshot
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes
inferred← citeshttps://doi.org/10.1038/s41436-018-0003-yopenalex-snapshot
Gain-of-function mutations in DNMT3A in patients with paraganglioma
inferred← citeshttps://doi.org/10.1038/s41436-021-01138-5openalex-snapshot
Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
inferred← citeshttps://doi.org/10.1038/s41467-018-06186-1openalex-snapshot
A bidentate Polycomb Repressive-Deubiquitinase complex is required for efficient activity on nucleosomes
inferred← citeshttps://doi.org/10.1038/s41467-020-19722-9openalex-snapshot
Polycomb group-mediated histone H2A monoubiquitination in epigenome regulation and nuclear processes
inferred← citeshttps://doi.org/10.1038/s41467-026-71797-yopenalex-snapshot
The role of Pth1r in posterior cranium cartilage regulation and craniosynostosis
inferred← citeshttps://doi.org/10.1038/s41568-024-00775-7openalex-snapshot
Re-envisioning genetic predisposition to childhood and adolescent cancers
inferred← citeshttps://doi.org/10.1038/s41598-017-05564-xopenalex-snapshot
Asxl1 deficiency in embryonic fibroblasts leads to cellular senescence via impairment of the AKT-E2F pathway and Ezh2 inactivation
inferred← citeshttps://doi.org/10.1038/srep44138openalex-snapshot
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes
inferred← citeshttps://doi.org/10.1039/9781782624202-00035openalex-snapshot
Diagnosis of Rare Inherited Diseases
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New Insights in AML Biology From Genomic Analysis
inferred← citeshttps://doi.org/10.1053/j.seminhematol.2017.04.008openalex-snapshot
Down syndrome, RASopathies, and other rare syndromes
inferred← citeshttps://doi.org/10.1055/s-0036-1593967openalex-snapshot
The Clinical Manifestations and Genetic Implications of Baraitser–Winter Syndrome Type 2
inferred← citeshttps://doi.org/10.1080/19768354.2025.2481979openalex-snapshot
Asxl1 loss in mice leads to microcephaly by regulating neural stem cell survival
inferred← citeshttps://doi.org/10.1080/21678707.2019.1589448openalex-snapshot
C syndrome - what do we know and what could the future hold?
inferred← citeshttps://doi.org/10.1084/jem.20131141openalex-snapshot
Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo
inferred← citeshttps://doi.org/10.1084/jem.20240945openalex-snapshot
ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma
inferred← citeshttps://doi.org/10.1093/ajcp/aqw025openalex-snapshot
Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing
inferred← citeshttps://doi.org/10.1093/bib/bbaf543openalex-snapshot
Systematic evaluation of de novo mutation calling tools using whole genome sequencing data
inferred← citeshttps://doi.org/10.1093/bioinformatics/bts319openalex-snapshot
A common ancestry for BAP1 and Uch37 regulators
inferred← citeshttps://doi.org/10.1093/brain/awt086openalex-snapshot
A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy
inferred← citeshttps://doi.org/10.1093/hmg/ddab110openalex-snapshot
Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features
inferred← citeshttps://doi.org/10.1093/hmg/ddac034openalex-snapshot
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders
inferred← citeshttps://doi.org/10.1093/jmcb/mjv008openalex-snapshot
Walking on multiple disease-gene networks to prioritize candidate genes
inferred← citeshttps://doi.org/10.1093/med/9780198713005.003.0023openalex-snapshot
Aetiology of intellectual disability and its clinical features
inferred← citeshttps://doi.org/10.1093/nar/gkw859openalex-snapshot
Analyzing structure–function relationships of artificial and cancer-associated PARP1 variants by reconstituting TALEN-generated HeLaPARP1knock-out cells
inferred← citeshttps://doi.org/10.1093/schbul/sbz057openalex-snapshot
Assessment of Potential Clinical Role for Exome Sequencing in Schizophrenia
inferred← citeshttps://doi.org/10.1097/eja.0000000000001317openalex-snapshot
Anaesthesia and orphan diseases
inferred← citeshttps://doi.org/10.1097/mcd.0000000000000126openalex-snapshot
A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring–Opitz syndrome
inferred← citeshttps://doi.org/10.1097/ms9.0000000000001429openalex-snapshot
PERCHING syndrome caused by variant gene KLHL7 in the first Iranian patient: a case report study
inferred← citeshttps://doi.org/10.1097/wco.0b013e32835ef373openalex-snapshot
Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders
inferred← citeshttps://doi.org/10.1101/2020.12.10.419309openalex-snapshot
BAP1 activity regulates PcG occupancy and global chromatin condensation counteracting diffuse PCGF3/5-dependent H2AK119ub1 deposition
inferred← citeshttps://doi.org/10.1101/2021.07.20.452995openalex-snapshot
ASXL3 controls cortical neuron fate specification through extrinsic self-renewal pathways
inferred← citeshttps://doi.org/10.1101/2022.12.15.520167openalex-snapshot
Multi-omics on truncating ASXL1 mutations in Bohring Opitz syndrome identify dysregulation of canonical and non-canonical Wnt signaling
inferred← citeshttps://doi.org/10.1101/2025.07.07.663591openalex-snapshot
H2AK119ub Safeguards Against Ectopic Transcription Factor Mediated Gene Activation in the Developing Forebrain
inferred← citeshttps://doi.org/10.1101/209908openalex-snapshot
Neurodevelopmental disease genes implicated by de novo mutation and CNV morbidity
inferred← citeshttps://doi.org/10.1101/658658openalex-snapshot
Systematic detection of brain protein-coding genes under positive selection during primate evolution and their roles in cognition
inferred← citeshttps://doi.org/10.1101/cshperspect.a026526openalex-snapshot
The Role of Additional Sex Combs-Like Proteins in Cancer
inferred← citeshttps://doi.org/10.1101/gr.261016.120openalex-snapshot
PR-DUB maintains the expression of critical genes through FOXK1/2- and ASXL1/2/3-dependent recruitment to chromatin and H2AK119ub1 deubiquitination
inferred← citeshttps://doi.org/10.1101/gr.262113.120openalex-snapshot
Systematic detection of brain protein-coding genes under positive selection during primate evolution and their roles in cognition
inferred← citeshttps://doi.org/10.1101/mcs.a004846openalex-snapshot
The tale of two genes: from next-generation sequencing to phenotype
inferred← citeshttps://doi.org/10.1111/brv.12383openalex-snapshot
Identification of de novo germline mutations and causal genes for sporadic diseases using trio‐based whole‐exome/genome sequencing
inferred← citeshttps://doi.org/10.1111/cge.12244openalex-snapshot
Making headway with genetic diagnostics of intellectual disabilities
inferred← citeshttps://doi.org/10.1111/cge.14701openalex-snapshot
Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge–Ropers Syndrome
inferred← citeshttps://doi.org/10.1111/febs.70206openalex-snapshot
Unconventional structure and function of PHD domains from additional sex combs‐like proteins
inferred← citeshttps://doi.org/10.1111/ocr.12150openalex-snapshot
Whole‐exome sequencing identified a variant in EFTUD 2 gene in establishing a genetic diagnosis
inferred← citeshttps://doi.org/10.1126/sciadv.abo6371openalex-snapshot
Cancer-driving mutations are enriched in genic regions intolerant to germline variation
inferred← citeshttps://doi.org/10.1126/science.abm7993openalex-snapshot
Relating enhancer genetic variation across mammals to complex phenotypes using machine learning
inferred← citeshttps://doi.org/10.1136/bcr-2024-263643openalex-snapshot
Shashi-Pena syndrome with late-onset specific hypogammaglobinaemia and autoimmune cytopenia
inferred← citeshttps://doi.org/10.1136/bmjno-2025-001540openalex-snapshot
Expanding the clinical phenotype associated with an ASXL1 pathogenic variant causing a novel neuromuscular disorder with neurodevelopmental features
inferred← citeshttps://doi.org/10.1136/jmedgenet-2012-101490openalex-snapshot
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila
inferred← citeshttps://doi.org/10.1136/jmedgenet-2013-101519openalex-snapshot
From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease
inferred← citeshttps://doi.org/10.1136/jmedgenet-2014-102588openalex-snapshot
The clinical significance of small copy number variants in neurodevelopmental disorders
inferred← citeshttps://doi.org/10.1136/jmedgenet-2014-102936openalex-snapshot
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA)
inferred← citeshttps://doi.org/10.1136/jmedgenet-2016-104360openalex-snapshot
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo , heterozygous, loss-of-function mutations in ASXL3 and review of published literature
inferred← citeshttps://doi.org/10.1136/jmedgenet-2017-104748openalex-snapshot
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype
inferred← citeshttps://doi.org/10.1136/jmedgenet-2018-105821openalex-snapshot
Advances in identification of genes involved in autosomal recessive intellectual disability: a brief review
inferred← citeshttps://doi.org/10.1136/jmg-2022-108920openalex-snapshot
Parental mosaicism detection and preimplantation genetic testing in families with multiple transmissions of de novo mutations
inferred← citeshttps://doi.org/10.1146/annurev-med-051010-162644openalex-snapshot
Human Genome Sequencing in Health and Disease
inferred← citeshttps://doi.org/10.1146/annurev-pathol-020712-164026openalex-snapshot
Diagnostic Applications of High-Throughput DNA Sequencing
inferred← citeshttps://doi.org/10.1155/2012/852829openalex-snapshot
Genomic Research to Identify Novel Pathways in the Development of Abdominal Aortic Aneurysm
inferred← citeshttps://doi.org/10.1155/2013/353028openalex-snapshot
An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms
inferred← citeshttps://doi.org/10.1158/0008-5472.can-17-2876openalex-snapshot
Familial and Somatic BAP1 Mutations Inactivate ASXL1/2-Mediated Allosteric Regulation of BAP1 Deubiquitinase by Targeting Multiple Independent Domains
inferred← citeshttps://doi.org/10.1158/1078-0432.ccr-17-0710openalex-snapshot
Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma
inferred← citeshttps://doi.org/10.1158/1078-0432.ccr-24-2100openalex-snapshot
Update on Surveillance for Wilms Tumor and Hepatoblastoma in Beckwith–Wiedemann Syndrome and Other Predisposition Syndromes
inferred← citeshttps://doi.org/10.1158/1541-7786.mcr-20-0080openalex-snapshot
Kinetic Characterization of ASXL1/2-Mediated Allosteric Regulation of the BAP1 Deubiquitinase
inferred← citeshttps://doi.org/10.1158/2643-3230.bcd-23-0235openalex-snapshot
Human ASXL1-Mutant Hematopoiesis Is Driven by a Truncated Protein Associated with Aberrant Deubiquitination of H2AK119
inferred← citeshttps://doi.org/10.1159/000346478openalex-snapshot
Rare Variants in Complex Traits: Novel Identification Strategies and the Role of de novo Mutations
inferred← citeshttps://doi.org/10.1159/000446884openalex-snapshot
FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations
inferred← citeshttps://doi.org/10.1159/000490480openalex-snapshot
Structural Genome Variations Related to Craniosynostosis
inferred← citeshttps://doi.org/10.1159/000492266openalex-snapshot
Genetic Causes of Craniosynostosis: An Update
inferred← citeshttps://doi.org/10.1159/000535157openalex-snapshot
Analysis of Rare Variants in 470,000 Exome-Sequenced UK Biobank Participants Implicates Novel Genes Affecting Risk of Hypertension
inferred← citeshttps://doi.org/10.1159/000541070openalex-snapshot
Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2 Variant Associated with Overgrowth and Minor Neurodevelopmental Features
inferred← citeshttps://doi.org/10.11606/t.41.2019.tde-18022019-173017openalex-snapshot
Investigação por sequenciamento do exoma completo da etiologia genética da deficiência intelectual familial
inferred← citeshttps://doi.org/10.11606/t.95.2015.tde-24082015-160400openalex-snapshot
Uma abordagem integrativa usando dados de interação proteína-proteína e estudos genéticos para priorizar genes e funções biológicas em transtorno de déficit de atenção e hiperatividade
inferred← citeshttps://doi.org/10.1172/jci.insight.167744openalex-snapshot
Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation
inferred← citeshttps://doi.org/10.1177/20552076241313407openalex-snapshot
eNSMBL-PASD: Spearheading early autism spectrum disorder detection through advanced genomic computational frameworks utilizing ensemble learning models
inferred← citeshttps://doi.org/10.1182/blood-2013-05-500272openalex-snapshot
Loss of Asxl1 leads to myelodysplastic syndrome–like disease in mice
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