List of works - Jolanda H Schieving

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

scientific article published on 23 March 2017

Acute toxicity profile of craniospinal irradiation with intensity-modulated radiation therapy in children with medulloblastoma: A prospective analysis

scientific article

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

scientific article published on May 2015

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

scientific article published in November 2017

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

scientific article published in January 2018

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

scientific article published on 01 February 2019

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

scientific article published on 27 December 2018

De novo SPAST mutations may cause a complex SPG4 phenotype

scientific article published on 01 July 2019

Effect of vaccinations on seizure risk and disease course in Dravet syndrome.

scientific article published on 22 July 2015

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

scientific article published on 11 July 2016

Hypofractionation vs conventional radiation therapy for newly diagnosed diffuse intrinsic pontine glioma: a matched-cohort analysis

scientific article published on 9 June 2012

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

scientific article published on 05 September 2019

Malignant migrating partial seizures in a 4‐month‐old boy ⬇️

scientific article published on 01 June 2011

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

scientific journal article

Mutations in RARS cause hypomyelination

scientific article (publication date: July 2014)

Novel hypomyelinating leukoencephalopathy affecting early myelinating structures

scientific article published in January 2012

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

scientific article published on 2 November 2017

Primary melanoma of the CNS in children is driven by congenital expression of oncogenic NRAS in melanocytes.

scientific article published on 09 January 2013

Social competence in newly diagnosed pediatric brain tumor patients

scientific article published on 04 November 2019

The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene

scientific article published on 17 March 2016

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

scientific article published on 9 April 2018

List of works by Jolanda H Schieving

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

Acute toxicity profile of craniospinal irradiation with intensity-modulated radiation therapy in children with medulloblastoma: A prospective analysis

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

De novo SPAST mutations may cause a complex SPG4 phenotype

Effect of vaccinations on seizure risk and disease course in Dravet syndrome.

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

Hypofractionation vs conventional radiation therapy for newly diagnosed diffuse intrinsic pontine glioma: a matched-cohort analysis

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Malignant migrating partial seizures in a 4‐month‐old boy ⬇️

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

Mutations in RARS cause hypomyelination

Novel hypomyelinating leukoencephalopathy affecting early myelinating structures

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Primary melanoma of the CNS in children is driven by congenital expression of oncogenic NRAS in melanocytes.

Social competence in newly diagnosed pediatric brain tumor patients

The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.