A. V. Vulto-van Silfhout

发表

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Kali T. Witherspoon, Bradley P. Coe, J. Shendure, 2014, Nature Genetics.

Diagnostic exome sequencing in persons with severe intellectual disability.

B. V. van Bon, A. V. Vulto-van Silfhout, L. Vissers, 2012, The New England journal of medicine.

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

S. Scherer, J. Rosenfeld, A. V. Vulto-van Silfhout, 2016, Molecular Psychiatry.

Update on Kleefstra Syndrome

A. V. Vulto-van Silfhout, W. Reardon, N. Philip, 2012, Molecular Syndromology.

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

B. V. van Bon, A. V. Vulto-van Silfhout, L. Vissers, 2013, Journal of Medical Genetics.

Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.

A. V. Vulto-van Silfhout, S. Antonarakis, B. Asselbergh, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Gene Networks Underlying Convergent and Pleiotropic Phenotypes in a Large and Systematically-Phenotyped Cohort with Heterogeneous Developmental Disorders

A. V. Vulto-van Silfhout, R. Pfundt, N. de Leeuw, 2015, PLoS genetics.

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.

A. V. Vulto-van Silfhout, R. Pfundt, M. Reijnders, 2019, American journal of human genetics.

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.

A. V. Vulto-van Silfhout, L. Vissers, T. Wienker, 2015, American journal of human genetics.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Golder N Wilson, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.

A. V. Vulto-van Silfhout, E. Haan, R. Gibbs, 2013, American journal of human genetics.

PhenoScore: AI-based phenomics to quantify rare disease and genetic variation

Baralle, A. V. Vulto-van Silfhout, L. Vissers, 2022, medRxiv.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

J. Rosenfeld, A. V. Vulto-van Silfhout, E. Eichler, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

A. V. Vulto-van Silfhout, R. Pfundt, B. D. de Vries, 2019, Genetics in Medicine.

Clinical Significance of De Novo and Inherited Copy‐Number Variation

A. V. Vulto-van Silfhout, J. Schuurs-Hoeijmakers, R. Pfundt, 2013, Human mutation.

Quantification of Phenotype Information Aids the Identification of Novel Disease Genes

A. V. Vulto-van Silfhout, J. Goeman, H. Brunner, 2017, Human mutation.

Kali T. Witherspoon, Bradley P. Coe, B. Coe, 2014, Nature Genetics.

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.

B. V. van Bon, A. V. Vulto-van Silfhout, L. Vissers, 2014, American journal of human genetics.

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.

Valter Tucci, Angelo Bifone, Alessandro Gozzi, 2014, The Journal of clinical investigation.

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.

B. V. van Bon, A. V. Vulto-van Silfhout, A. Hoischen, 2015, American journal of human genetics.

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

J. Rosenfeld, B. V. van Bon, A. V. Vulto-van Silfhout, 2017, American journal of human genetics.

A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome

A. V. Vulto-van Silfhout, N. de Leeuw, B. D. de Vries, 2012, Molecular Syndromology.

Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients

A. V. Vulto-van Silfhout, A. Hoischen, D. Horn, 2013, Human mutation.

The clustering of functionally related genes contributes to CNV-mediated disease

Caleb Webber, Bert de Vries, Nicole de Leeuw, 2015, Genome research.

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

J. Rosenfeld, A. V. Vulto-van Silfhout, B. D. de Vries, 2019, Biological Psychiatry.

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

Christian Gilissen, Bonnie Nijhof, Annette Schenck, 2013, Human molecular genetics.

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.

A. V. Vulto-van Silfhout, L. Vissers, J. Schuurs-Hoeijmakers, 2012, American journal of human genetics.

Mutations in MED12 cause X-linked Ohdo syndrome.

B. V. van Bon, A. V. Vulto-van Silfhout, A. Hoischen, 2013, American journal of human genetics.

An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations.

Nicole de Leeuw, Jayne Y Hehir-Kwa, A. V. Vulto-van Silfhout, 2013, European journal of medical genetics.

1 in 38 individuals at risk of a dominant medically actionable disease

A. V. Vulto-van Silfhout, L. Vissers, H. Brunner, 2018, European Journal of Human Genetics.

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

A. V. Vulto-van Silfhout, L. Vissers, B. D. de Vries, 2021, European Journal of Human Genetics.

Diagnostic exome sequencing in persons with severe intellectual disability.

Christian Gilissen, Alexander Hoischen, Han G. Brunner, 2012, New England Journal of Medicine.

Variants in CUL4B are Associated with Cerebral Malformations

A. V. Vulto-van Silfhout, L. Vissers, S. Haas, 2015, Human mutation.

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

A. V. Vulto-van Silfhout, P. Lockhart, D. Muzny, 2014, Orphanet Journal of Rare Diseases.

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Barbara N. Pusey, Janice S. Lee, A. V. Vulto-van Silfhout, 2015, American journal of human genetics.

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

A. V. Vulto-van Silfhout, D. Baralle, P. Striano, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity.

A. V. Vulto-van Silfhout, F. Cremers, S. Roosing, 2022, American journal of human genetics.

Genetic risk estimates for offspring of patients with Stargardt disease

A. V. Vulto-van Silfhout, F. Cremers, S. Roosing, 2021, medRxiv.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Patricia H. Wheeler, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

A novel MED12 mutation: Evidence for a fourth phenotype

A. V. Vulto-van Silfhout, G. Merla, A. Mencarelli, 2016, American journal of medical genetics. Part A.

Constraint and conservation of paired‐type homeodomains predicts the clinical outcome of missense variants of uncertain significance

A. V. Vulto-van Silfhout, R. Pfundt, M. Shaw, 2020, Human mutation.

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism

B. Coe, A. V. Vulto-van Silfhout, B. D. de Vries, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish

A. V. Vulto-van Silfhout, S. Mehta, Yiping Shen, 2023, Science advances.

Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3

A. V. Vulto-van Silfhout, R. Pfundt, N. de Leeuw, 2013, Clinical Dysmorphology.

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

B. V. van Bon, A. V. Vulto-van Silfhout, L. Vissers, 2023, Nature Genetics.

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism

Bradley P. Coe, A. V. Vulto-van Silfhout, B. D. de Vries, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals.

B. V. van Bon, A. V. Vulto-van Silfhout, L. Vissers, 2024, Nature medicine.