Daniëlle G. M. Bosch

发表

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.

Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1.

J. Schuurs-Hoeijmakers, B. D. de Vries, F. Riemslag, 2014, JAMA ophthalmology.

Cerebral visual impairment and intellectual disability caused by PGAP1 variants

J. Lupski, S. Jhangiani, F. Cremers, 2015, European Journal of Human Genetics.

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

J. Rosenfeld, B. D. de Vries, E. Zackai, 2016, American journal of human genetics.

The Multidisciplinary Guidelines for Diagnosis and Referral in Cerebral Visual Impairment

Daniëlle G. M. Bosch, F. Boonstra, C. Stellingwerf, 2022, Frontiers in Human Neuroscience.

Chromosomal aberrations in cerebral visual impairment.

R. Pfundt, M. Reijnders, B. D. de Vries, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Brachydactyly: a rare complication of sickle cell anaemia.

Daniëlle G. M. Bosch, A. Hoogeboom, C. V. van Nieuwenhoven, 2011, Clinical dysmorphology.

Novel genetic causes for cerebral visual impairment

R. Pfundt, N. de Leeuw, B. D. de Vries, 2015, European Journal of Human Genetics.

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

J. Rosenfeld, B. D. de Vries, W. Chung, 2016, Genetics in Medicine.

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

S. Scherer, L. Vissers, R. Pfundt, 2021, American journal of human genetics.

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Kali T. Witherspoon, B. Coe, K. Witherspoon, 2017, European Journal of Human Genetics.

Robert W. Williams, D. Heck, Shivakumar Keerthikumar, 2014, Front. Neurosci..

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.

L. Vissers, J. Schuurs-Hoeijmakers, A. Hoischen, 2016, Human molecular genetics.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

D. MacArthur, L. Vissers, M. Reijnders, 2016, American journal of human genetics.

NR2F1 mutations cause optic atrophy with intellectual disability.

L. Vissers, R. Pfundt, B. D. de Vries, 2014, American journal of human genetics.

Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes

B. D. de Vries, F. Cremers, Daniëlle G. M. Bosch, 2014, BMC Ophthalmology.

Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations

C. Shaw-Smith, C. Schaaf, Daniëlle G. M. Bosch, 2020, American journal of medical genetics. Part A.

Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy

C. Möller, N. Katsanis, F. Cremers, 2017, Ophthalmic genetics.

An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS

D. Nickerson, M. Bamshad, C. Möller, 2017, Genes.

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.

Ellen F. Macnamara, E. Eklund, C. Toro, 2021, Brain : a journal of neurology.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Saskia M. J. Hopman, L. Vissers, R. Pfundt, 2023, American journal of human genetics.

Cerebral visual impairment, autism, and pancreatitis associated with a 9 Mbp deletion on 10p12.

R. Pfundt, B. D. de Vries, F. Cremers, 2015, Clinical dysmorphology.

NR2F1 mutations cause optic atrophy with intellectual disability.

L. Vissers, R. Pfundt, R. Gibbs, 2014, American journal of human genetics.

Cerebral visual impairment, autism, and pancreatitis associated with a 9 Mbp deletion on 10p12.

R. Pfundt, B. D. de Vries, F. Cremers, 2015, Clinical Dysmorphology.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Rebecca C. Spillmann, R. Pfundt, J. Gécz, 2023, The Journal of clinical investigation.