B. V. Bon

发表

A de novo paradigm for mental retardation

Christian Gilissen, Alexander Hoischen, Nienke Wieskamp, 2010, Nature Genetics.

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Christian Gilissen, Alexander Hoischen, Alex Henderson, 2010, Nature Genetics.

Genotype–Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2

K. Grzeschik, A. Mégarbané, R. Happle, 2013, Human mutation.

Cantú Syndrome Resulting from Activating Mutation in the KCNJ8 Gene

A. Hoischen, C. Nichols, H. Engels, 2014, Human mutation.

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

A. Hoischen, E. Bongers, H. Brunner, 2013, European Journal of Human Genetics.

Erratum: Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems (The American Journal of Human Genetics (2014) 94(5) (649–661) (S0002929714001153) (10.1016/j.ajhg.2014.03.013))

L. Vissers, A. Hoischen, G. Carvill, 2015 .

Homozygosity mapping in outbred families with mental retardation

J. Schuurs-Hoeijmakers, R. Pfundt, J. Hehir-Kwa, 2011, European Journal of Human Genetics.

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.

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

L. Vissers, A. Hoischen, J. Veltman, 2011, Nature Genetics.

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 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

R. Pfundt, M. Fichera, C. Romano, 2010, European Journal of Human Genetics.

The phenotype of recurrent 10q22q23 deletions and duplications

R. Pfundt, P. Stankiewicz, Ankita Patel, 2011, European Journal of Human Genetics.

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

R. Pfundt, M. Fichera, C. Romano, 2010, European Journal of Human Genetics.

Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

R. Pfundt, M. Fichera, C. Romano, 2010, European Journal of Human Genetics.

The development of Kalyan Dombivili : fringe city in a metropolitan region

K. Pfeffer, I. Baud, N. Sridharan, 2016 .

Detecting de novo mutations in intellectual disability.

A. Hoischen, J. Veltman, H. Brunner, 2014 .

DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.

B. V. van Bon, A. Hoischen, J. Lupski, 2016, 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.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

B. V. van Bon, N. de Leeuw, M. Fichera, 2009, Journal of Medical Genetics.

Mutations in MAST1 cause mega-corpus-callosum with

Martin W. Breuss, A. Pagnamenta, D. Keays, 2019 .

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Edwin Cuppen, Claire Redin, Ryan L. Collins, 2016, Nature Genetics.

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

B. V. van Bon, R. Pfundt, G. Cooper, 2019, American journal of human genetics.

PhenomAD-NDD: the Phenomics Aggregation Database of comorbidities in 51,227 pediatric individuals with NeuroDevelopmental Disorders

J. Schuurs-Hoeijmakers, R. Pfundt, T. Kleefstra, 2023, medRxiv.