| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1043037714 |
| P356 | DOI | 10.1038/NG.868 |
| P698 | PubMed publication ID | 21706002 |
| P50 | author | Anita Rauch | Q21253643 |
| Han G. Brunner | Q22669719 | ||
| Dagmar Wieczorek | Q30170225 | ||
| Christian Gilissen | Q39793064 | ||
| Lisenka Vissers | Q42700373 | ||
| Benjamín Rodríguez-Santiago | Q51638537 | ||
| Joris A Veltman | Q57687954 | ||
| Ruth Newbury-Ecob | Q58327180 | ||
| Alexander Hoischen | Q75069951 | ||
| Bregje W van Bon | Q96009330 | ||
| Bert B A de Vries | Q100959846 | ||
| Judith A Goodship | Q115121469 | ||
| P2093 | author name string | Joris A Veltman | |
| Deborah Bartholdi | |||
| Gabriele Gillessen-Kaesbach | |||
| Sarah F Smithson | |||
| Jan M Cobben | |||
| Susanne Kjaergaard | |||
| Rob Hastings | |||
| Ruth McGowan | |||
| Irene Janssen | |||
| Petra de Vries | |||
| Maarit Peippo | |||
| Bart van Lier | |||
| P2860 | cites work | Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome | Q24622470 |
| Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome | Q28115607 | ||
| Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome | Q28292428 | ||
| Additional sex combs-like 1 belongs to the enhancer of trithorax and polycomb group and genetically interacts with Cbx2 in mice | Q33595603 | ||
| Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome | Q33960537 | ||
| Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis | Q34168200 | ||
| De novo mutations of SETBP1 cause Schinzel-Giedion syndrome | Q45340629 | ||
| Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants? | Q48154899 | ||
| The Opitz trigonocephaly syndrome. A case report | Q55984307 | ||
| Chromosome 20 deletions in myeloid malignancies: reduction of the common deleted region, generation of a PAC/BAC contig and identification of candidate genes | Q57239979 | ||
| Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia | Q60668455 | ||
| New cases of Bohring-Opitz syndrome, update, and critical review of the literature | Q83324727 | ||
| ASXL1 mutation is associated with poor prognosis and acute transformation in chronic myelomonocytic leukaemia | Q85109789 | ||
| P433 | issue | 8 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | Bohring-Opitz syndrome | Q4938225 |
| P304 | page(s) | 729-31 | |
| 729-731 | |||
| P577 | publication date | 2011-06-26 | |
| P1433 | published in | Nature Genetics | Q976454 |
| P1476 | title | De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome | |
| P478 | volume | 43 |
| Q35843227 | 2011 William Allan Award introduction: John M. Opitz |
| Q37692326 | A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. |
| Q26784240 | A Genetic-Pathophysiological Framework for Craniosynostosis |
| Q58695813 | A bidentate Polycomb Repressive-Deubiquitinase complex is required for efficient activity on nucleosomes |
| Q41847426 | A new era in the discovery of de novo mutations underlying human genetic disease |
| Q38013966 | A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease |
| Q47139897 | A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders |
| Q42689905 | ASXL gain-of-function truncation mutants: defective and dysregulated forms of a natural ribosomal frameshifting product? |
| Q44113808 | ASXL1 mutations are infrequent in young patients with primary acute myeloid leukemia and their detection has a limited role in therapeutic risk stratification |
| Q24296658 | ASXL1 mutations promote myeloid transformation through loss of PRC2-mediated gene repression |
| Q90265215 | Aberrant histone modifications induced by mutant ASXL1 in myeloid neoplasms |
| Q28585968 | Additional sex combs-like family genes are required for normal cardiovascular development |
| Q93080968 | An Adversarial DNA N6-Methyladenine-Sensor Network Preserves Polycomb Silencing |
| Q41671673 | An interstitial 20q11.21 microdeletion causing mild intellectual disability and facial dysmorphisms |
| Q30830820 | Analyzing structure-function relationships of artificial and cancer-associated PARP1 variants by reconstituting TALEN-generated HeLa PARP1 knock-out cells |
| Q36362825 | Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders |
| Q38401146 | Asxl1 deficiency in embryonic fibroblasts leads to cellular senescence via impairment of the AKT-E2F pathway and Ezh2 inactivation |
| Q58615781 | Asxl1 exerts an antiproliferative effect on mouse lung maturation via epigenetic repression of the E2f1-Nmyc axis |
| Q38806099 | BAP1/ASXL1 recruitment and activation for H2A deubiquitination. |
| Q41921612 | Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition |
| Q56266778 | Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome |
| Q34287662 | Cancer genetics and epigenetics: two sides of the same coin? |
| Q36018603 | Cancer-associated ASXL1 mutations may act as gain-of-function mutations of the ASXL1-BAP1 complex |
| Q36017136 | Cantú syndrome is caused by mutations in ABCC9. |
| Q38234538 | Chromatin regulators in neurodevelopment and disease: Analysis of fly neural circuits provides insights: Networks of chromatin regulators and transcription factors underlie Drosophila neurogenesis and cognitive defects in intellectual disability and |
| Q54857775 | Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance. |
| Q64039275 | Comparative Analysis for the Performance of Variant Calling Pipelines on Detecting the Mutations in Humans |
| Q37342092 | De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype |
| Q89936646 | De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders |
| Q34371843 | De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies |
| Q34288731 | De novo mutations in human genetic disease |
| Q28260677 | De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome |
| Q34326370 | De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome |
| Q30413034 | Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo |
| Q56318982 | Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene |
| Q26866283 | Disease gene identification strategies for exome sequencing |
| Q37968529 | Disordered epigenetic regulation in the pathophysiology of myeloproliferative neoplasms |
| Q64080065 | Double outlet right ventricle and aortopulmonary window in a neonate with Bohring-Opitz (Oberklaid-Danks) syndrome: First case report |
| Q55738668 | Early presentation of cystic kidneys in a family with a homozygousINVSmutation |
| Q34129835 | Epigenetic modifications by dietary phytochemicals: implications for personalized nutrition |
| Q42930390 | Epigenetics and mutations in chronic myeloproliferative neoplasms |
| Q38175288 | Exome sequencing greatly expedites the progressive research of Mendelian diseases |
| Q91857502 | Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome |
| Q39419169 | Expanding our knowledge of conditions associated with the ASXL gene family |
| Q41716411 | FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations |
| Q47248762 | Familial and Somatic BAP1 Mutations Inactivate ASXL1/2-Mediated Allosteric Regulation of BAP1 Deubiquitinase by Targeting Multiple Independent Domains. |
| Q53791586 | Familial hematological malignancies: ASXL1 gene investigation. |
| Q37040682 | Functional and cancer genomics of ASXL family members |
| Q34469971 | Functional proteomics of the epigenetic regulators ASXL1, ASXL2 and ASXL3: a convergence of proteomics and epigenetics for translational medicine |
| Q47070224 | GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. |
| Q60895552 | Gain-of-function mutations in DNMT3A in patients with paraganglioma |
| Q93043673 | Genetic Causes of Craniosynostosis: An Update |
| Q38216145 | Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era. |
| Q50071717 | Genetic epidemiology of neural tube defects |
| Q38616789 | Genetic studies in intellectual disability and related disorders |
| Q41560420 | Genomic research to identify novel pathways in the development of abdominal aortic aneurysm |
| Q43520378 | Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay |
| Q96297605 | Hcfc1a regulates neural precursor proliferation and asxl1 expression in the developing brain |
| Q28118506 | Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia |
| Q39409765 | Histone H2A Monoubiquitination in Neurodevelopmental Disorders. |
| Q22065433 | Human genome sequencing in health and disease |
| Q47445785 | Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing. |
| Q47701145 | Insight into the molecular genetics of myopia |
| Q30781978 | Integrating multiple genomic data to predict disease-causing nonsynonymous single nucleotide variants in exome sequencing studies |
| Q49380618 | Loss of ASXL1 in the bone marrow niche dysregulates hematopoietic stem and progenitor cell fates |
| Q37014700 | Loss of Asxl1 Alters Self-Renewal and Cell Fate of Bone Marrow Stromal Cell, Leading to Bohring-Opitz-like Syndrome in Mice |
| Q37512080 | Loss of Asxl1 leads to myelodysplastic syndrome-like disease in mice |
| Q38124929 | Making headway with genetic diagnostics of intellectual disabilities |
| Q44258965 | Maps for the world of genomic medicine: the 2011 CSHL Personal Genomes meeting |
| Q57814695 | Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features |
| Q89393874 | Modeling ASXL1 mutation revealed impaired hematopoiesis caused by derepression of p16Ink4a through aberrant PRC1-mediated histone modification |
| Q36817312 | Mutations in ANTXR1 cause GAPO syndrome. |
| Q37995804 | Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases |
| Q30668595 | Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome |
| Q38683360 | Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. |
| Q27001068 | Neurogenomics of speech and language disorders: the road ahead |
| Q28073446 | New insights into the generation and role of de novo mutations in health and disease |
| Q57083784 | Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders |
| Q41220493 | Next-generation diagnostics: gene panel, exome, or whole genome? |
| Q38092689 | Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective |
| Q38029472 | Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders |
| Q56266522 | Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome |
| Q36323864 | Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies |
| Q39147564 | Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome |
| Q102369118 | Polycomb group-mediated histone H2A monoubiquitination in epigenome regulation and nuclear processes |
| Q33830995 | Prioritization of neurodevelopmental disease genes by discovery of new mutations |
| Q50242626 | Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing |
| Q21563368 | Rapid-throughput skeletal phenotyping of 100 knockout mice identifies 9 new genes that determine bone strength |
| Q48014985 | Retracted: Histone H2B ubquitination regulates retinoic acid signaling through the cooperation of ASXL1 and BAP1. |
| Q38046443 | SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability |
| Q53209241 | Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes. |
| Q93043682 | Structural Genome Variations Related to Craniosynostosis |
| Q39412586 | Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma |
| Q45423315 | Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples. |
| Q38059391 | The ASXL-BAP1 axis: new factors in myelopoiesis, cancer and epigenetics |
| Q45058952 | The Clinical Manifestations and Genetic Implications of Baraitser-Winter Syndrome Type 2. |
| Q34107107 | The HARE-HTH and associated domains: novel modules in the coordination of epigenetic DNA and protein modifications |
| Q38928350 | The Role of Additional Sex Combs-Like Proteins in Cancer |
| Q34238113 | The clinical significance of small copy number variants in neurodevelopmental disorders |
| Q33892323 | The distinct biological implications of Asxl1 mutation and its roles in leukemogenesis revealed by a knock-in mouse model |
| Q42576043 | The exome factor |
| Q38586076 | The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders. |
| Q58050322 | The mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome |
| Q38676238 | The role of de novo mutations in the development of amyotrophic lateral sclerosis. |
| Q47117053 | The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features. |
| Q30765921 | The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors |
| Q92858606 | The tale of two genes: from next-generation sequencing to phenotype |
| Q47438429 | Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA). |
| Q37501682 | Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms |
| Q55055822 | Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. |
| Q40150370 | Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life |
| Q37932636 | Unlocking Mendelian disease using exome sequencing |
| Q38466830 | Walking on multiple disease-gene networks to prioritize candidate genes |
| Q41919376 | Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis |
| Q36686140 | Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios |
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