Advanced search

Authors whose works are in public domain in at least one jurisdiction

List of works by Klaas J. Wierenga

1-50 of 53 results

View this query on the Wikidata Query Service
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

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

scientific article published in February 2008
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

scientific article published in November 2017
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

scientific article published on 14 August 2017
Galactose toxicity in animals

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

scientific article published on 25 October 2012
Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update

scientific article
Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

scientific article published on October 16, 2014
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

scientific article published on 20 April 2016
POGZ truncating alleles cause syndromic intellectual disability.

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

scientific article
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

scientific article published on 24 July 2017
High-throughput screening for human galactokinase inhibitors

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

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

scientific article published on March 2, 2016
Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide

scientific article published on October 17, 2015
ARHI: A new target of galactose toxicity in Classic Galactosemia

scientific article published on January 2008
βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy

scientific article published on 31 May 2018
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
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes

scientific article published on February 2010
Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

scientific article published on August 2016
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 novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

scientific article published on 10 May 2018
A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis

scientific article published on 28 April 2017
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals

scientific article published on 20 July 2017
Encephalocraniocutaneous Lipomatosis

scientific article published on 20 April 2018
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
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
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
Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity

scientific article published on 01 January 2020
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
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature

scientific article published on 14 June 2018
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
Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizures

scientific article published on January 1, 2013
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

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

scientific article published on 22 May 2020
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
Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3

scientific article published on 01 October 2020
Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder

scientific article published on 12 September 2020
Inferred inheritance of MorbidMap genes without OMIM clinical synopsis

article
SPTBN4 Disorder

scientific article published on 17 July 2020
The first case of deafness-dystonia syndrome due to compound heterozygous variants in FITM2

scientific article published on 26 July 2018
IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

scientific article published on 13 March 2020
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

scientific article published on 17 November 2020
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

scientific article published on 27 February 2020
Dominant collagen XII mutations cause a distal myopathy

scientific article published on 11 September 2019
Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures"

scientific article published on 30 December 2018
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

scientific article published on 02 December 2020
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

Paulina is supported by:

About Paulina

Help