B. Bon

发表

Genome sequencing identifies major causes of severe intellectual disability

L. Vissers, A. Hoischen, R. Pfundt, 2014, Nature.

Monogenic and chromosomal causes of isolated speech and language impairment

C. Barnett, B. V. van Bon, B. Bon, 2015, Journal of Medical Genetics.

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Martin W. Breuss, A. Reymond, A. Pagnamenta, 2018, Neuron.

Mutations in MAST 1 Caus e Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations Graphical

Martin W. Breuss, A. Reymond, A. Pagnamenta, 2018 .

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

Kali T. Witherspoon, Bradley P. Coe, R Bernier, 2016, Molecular Psychiatry.

BDNF and DYRK1A Are Variable and Inversely Correlated in Lymphoblastoid Cell Lines from Down Syndrome Patients

A. Hoischen, S. Antonarakis, B. Menten, 2012, Molecular Neurobiology.

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

L. Vissers, J. Schuurs-Hoeijmakers, A. Hoischen, 2016, European Journal of Human Genetics.

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

J. Tolmie, D. Wieczorek, J. Goodship, 2011, European Journal of Human Genetics.

A de novo balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNA

B. Ceulemans, R. Kooy, G. Vandeweyer, 2012, Epilepsy Research.

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy

R A Gibbs, B. V. van Bon, E. Haan, 2015, Molecular Psychiatry.

15q13.3 Microdeletion

H. Mefford, B. V. Bon, B. Vries, 2015 .

Materials and methods Samples

J. Gécz, A. Maclennan, M. Corbett, 2018 .

BDNF and DYRK1A Are Variable and Inversely Correlated in Lymphoblastoid Cell Lines from Down Syndrome Patients

B. V. van Bon, A. Hoischen, B. D. de Vries, 2012, Molecular Neurobiology.

Involvement of MAP3K7 in FMD2 and CSCF, delineation of genotype/phenotype correlations.

L. Bird, M. Tartaglia, Y. Elgersma, 2021 .

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

J. Rosenfeld, S. Schwartz, L. Shaffer, 2013, European Journal of Human Genetics.

phenotypes microduplications that show distinctive co-locating 17 p 13 . 3 microdeletions and Further molecular and clinical delineation of

R. Pfundt, C. Martin, A. Wallin, 2022 .