List of works - Klaas J. Wierenga

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

scientific article published on 10 April 2018

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

scientific article published on 01 October 2018

A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.

scientific article published on 25 October 2012

A neonate with mucolipidosis II and transient secondary hyperparathyroidism

scientific article published on 01 December 2019

A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

scientific article published on 10 May 2018

A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes

scientific article published on February 2010

A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis

scientific article published on 28 April 2017

ARHI: A new target of galactose toxicity in Classic Galactosemia

scientific article published on January 2008

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

scientific article

Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide

scientific journal article

Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals

scientific article published on 20 July 2017

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

scientific article published in February 2008

Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome

scientific article published on 28 January 2019

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

scientific article published on 24 July 2017

Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizures

scientific article

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

scientific article published on 01 November 2019

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

scientific article published on 27 February 2020

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

scientific article published on 28 February 2019

Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing

scientific article

Dominant collagen XII mutations cause a distal myopathy

scientific article published on 11 September 2019

Encephalocraniocutaneous Lipomatosis

scientific article published on 20 April 2018

Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity

scientific article published on 01 January 2020

Galactose toxicity in animals

scientific article

Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys⁻Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations

scientific article published on 15 May 2019

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

scientific article published on 20 April 2016

Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder

scientific article published on 12 September 2020

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

scientific article published in November 2017

High-throughput screening for human galactokinase inhibitors

scientific article

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

scientific article published on 02 December 2020

IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

scientific article published on 13 March 2020

Impact of integrated translational research on clinical exome sequencing

scientific article published on 04 November 2020

Inferred inheritance of MorbidMap genes without OMIM clinical synopsis

article

Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction

scientific article published on 27 November 2019

Molecular and biochemical characterization of human galactokinase and its small molecule inhibitors

scientific article

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

scientific article published on August 2016

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

scientific article published on 14 August 2017

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome

scientific article

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

scientific article published on 17 November 2020

Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures"

scientific article published on 30 December 2018

POGZ truncating alleles cause syndromic intellectual disability.

scientific article

Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature

scientific article published on 14 June 2018

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

scientific article

Re‐assigned diagnosis of D4ST1‐deficient Ehlers‐Danlos syndrome (adducted thumb‐clubfoot syndrome) after initial diagnosis of Marden‐Walker syndrome ⬇️

scientific article published on September 14, 2012

SPTBN4 Disorder

scientific article published on 17 July 2020

Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking

scientific article published on 26 July 2018

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

scientific article published on 21 January 2019

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy

scientific article published on 22 May 2020

The first case of deafness-dystonia syndrome due to compound heterozygous variants in FITM2

scientific article published on 26 July 2018

Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update

scientific article

Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3

scientific article published on 01 October 2020

Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

scientific article published on 03 June 2019

βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy

scientific article published on 31 May 2018

List of works by Klaas J. Wierenga

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.

A neonate with mucolipidosis II and transient secondary hyperparathyroidism

A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes

A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis

ARHI: A new target of galactose toxicity in Classic Galactosemia

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide

Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizures

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing

Dominant collagen XII mutations cause a distal myopathy

Encephalocraniocutaneous Lipomatosis

Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity

Galactose toxicity in animals

Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys⁻Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

High-throughput screening for human galactokinase inhibitors

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

Impact of integrated translational research on clinical exome sequencing

Inferred inheritance of MorbidMap genes without OMIM clinical synopsis

Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction

Molecular and biochemical characterization of human galactokinase and its small molecule inhibitors

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures"

POGZ truncating alleles cause syndromic intellectual disability.

Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

Re‐assigned diagnosis of D4ST1‐deficient Ehlers‐Danlos syndrome (adducted thumb‐clubfoot syndrome) after initial diagnosis of Marden‐Walker syndrome ⬇️

SPTBN4 Disorder

Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy

The first case of deafness-dystonia syndrome due to compound heterozygous variants in FITM2

Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update

Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3

Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy