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Author Details

Anneke T Vulto-van Silfhout
Radboud University Medical Center
2009
53
28
PMIDPaper TitleJournal TitlePublished Year
36745127Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.Genet Med2023
37550531PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.Nat Genet2023
37126546Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.Sci Adv2023
36399134Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.Genet Med2023
34521999Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.Eur J Hum Genet2022
35579625Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.Genet Med2022
35499524Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.Genet Med2022
35120629Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity.Am J Hum Genet2022
34906484Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders.Genet Med2022
33244165De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.Genet Med2021
32383243Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.Hum Mutat2020
29724491Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.Biol Psychiatry2019
30929739De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.Am J Hum Genet2019
30349098The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.Genet Med2019
302913431 in 38 individuals at risk of a dominant medically actionable disease.Eur J Hum Genet2019
30696996Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.Genet Med2019
29351919High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer.Clin Cancer Res2018
30092902Severe Positional Central Sleep Apnea in an Asymptomatic Adult With a <i>PHOX2B</i> Frameshift Mutation.J Clin Sleep Med2018
28074630Quantification of Phenotype Information Aids the Identification of Novel Disease Genes.Hum Mutat2017
28575647YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.Am J Hum Genet2017
26757981De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.Eur J Hum Genet2016
27312080A novel MED12 mutation: Evidence for a fourth phenotype.Am J Med Genet A2016
25385192Variants in CUL4B are associated with cerebral malformations.Hum Mutat2015
26119818Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.Am J Hum Genet2015
25887030The clustering of functionally related genes contributes to CNV-mediated disease.Genome Res2015
25704603Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.Am J Hum Genet2015
25781962Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders.PLoS Genet2015
25817016DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.Am J Hum Genet2015
24217912The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.Nucleic Acids Res2014
25217958Refining analyses of copy number variation identifies specific genes associated with developmental delay.Nat Genet2014
24998929Disruptive CHD8 mutations define a subtype of autism early in development.Cell2014
25169753The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.Am J Med Genet C Semin Med Genet2014
24614104Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.J Clin Invest2014
24531329A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.Nat Genet2014
24674232Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.Orphanet J Rare Dis2014
24726472Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.Am J Hum Genet2014
23183317Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3.Clin Dysmorphol2013
24123876Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.J Med Genet2013
24038936Clinical significance of de novo and inherited copy-number variation.Hum Mutat2013
23851227An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations.Eur J Med Genet2013
23929686Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.Hum Mutat2013
23623387Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.Am J Hum Genet2013
23395478Mutations in MED12 cause X-linked Ohdo syndrome.Am J Hum Genet2013
23390136Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.Hum Mol Genet2013
22670141Update on Kleefstra Syndrome.Mol Syndromol2012
23176823Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.Am J Hum Genet2012
23033978Diagnostic exome sequencing in persons with severe intellectual disability.N Engl J Med2012
22822384A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome.Mol Syndromol2012
21881559Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.Nature2011
21834056Pierpont syndrome: a collaborative study.Am J Med Genet A2011
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Collaborators

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