List of works - Hermine E Veenstra-Knol

A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

scientific article published on 21 January 2015

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

scientific article published on 12 May 2017

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy

scientific article published on 14 September 2017

Central 22q11.2 deletions

scientific article published on 14 August 2014

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders

scientific article published on 09 August 2021

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

scientific article published on 01 September 2019

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

scientific article published on 27 January 2016

De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability

scientific article published on 10 March 2020

Dysmorphic features in 2-year-old IVF/ICSI offspring

scientific article published on 12 July 2012

EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction.

scientific article published on 25 January 2018

Early recognition of basal cell naevus syndrome

scientific article published on 10 December 2004

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations

scientific article published on 21 January 2011

Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome

scientific article

Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.

scientific article published on 23 January 2013

Further delineation of the KAT6B molecular and phenotypic spectrum

scientific article

Genotype-phenotype correlation at codon 1740 of SETD2

scientific article published on 24 July 2020

Genotype-phenotype correlation in patients suspected of having Sotos syndrome

scientific article published on 24 September 2004

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

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

scientific article published on 9 April 2017

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression

scientific article

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

article

Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.

scientific article

Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics ⬇️

scientific article published on September 21, 2011

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3

scientific article published on 01 September 2019

Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene

scientific article

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

article

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

scientific article published on 26 August 2015

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

scientific article

Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene

scientific article published on 15 July 2007

Unreported manifestations in two Dutch families with Bartsocas-Papas syndrome

scientific article published on 01 December 2003

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

scientific article published on 4 February 2016

List of works by Hermine E Veenstra-Knol

A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy

Central 22q11.2 deletions

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders

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

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability

Dysmorphic features in 2-year-old IVF/ICSI offspring

EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction.

Early recognition of basal cell naevus syndrome

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations

Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome

Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.

Further delineation of the KAT6B molecular and phenotypic spectrum

Genotype-phenotype correlation at codon 1740 of SETD2

Genotype-phenotype correlation in patients suspected of having Sotos syndrome

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

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.

Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics ⬇️

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3

Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene

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

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene

Unreported manifestations in two Dutch families with Bartsocas-Papas syndrome

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly