Klaas Wierenga

Klaas Wierenga,

Department: Pediatric Genetics and Metabolism
Business Phone: (352) 273-8234

Publications

2023
Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions.
Frontiers in neurology. 14 [DOI] 10.3389/fneur.2023.1219324. [PMID] 37564735.
2023
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.
American journal of human genetics. 110(6):989-997 [DOI] 10.1016/j.ajhg.2023.04.006. [PMID] 37167966.
2023
Impact of integrated translational research on clinical exome sequencing.
Genetics in medicine : official journal of the American College of Medical Genetics. 25(2) [DOI] 10.1016/j.gim.2022.12.006. [PMID] 36745126.
2023
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Journal of translational medicine. 21(1) [DOI] 10.1186/s12967-023-04183-7. [PMID] 37353797.
2023
Statistical Mechanics Metrics in Pairing and Parsing In Silico and Phenotypic Data of a Novel Genetic NFκB1 (c.T638A) Variant.
Genes. 14(10) [DOI] 10.3390/genes14101855. [PMID] 37895204.
2022
A novel clinicopathologic entity causing rapidly progressive cerebellar ataxia?
Parkinsonism & related disorders. 105:149-153 [DOI] 10.1016/j.parkreldis.2022.11.008. [PMID] 36396537.
2022
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
Journal of medical genetics. 59(9):865-877 [DOI] 10.1136/jmedgenet-2020-107623. [PMID] 34815299.
2022
Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome.
Molecular genetics & genomic medicine. 10(7) [DOI] 10.1002/mgg3.1966. [PMID] 35570467.
2022
Neuropathological Findings of CSF1R-Related Leukoencephalopathy After Long-Term Immunosuppressive Therapy.
Movement disorders : official journal of the Movement Disorder Society. 37(2):439-440 [DOI] 10.1002/mds.28919. [PMID] 35044689.
2022
PLA2G6-associated neurodegeneration in four different populations-case series and literature review.
Parkinsonism & related disorders. 101:66-74 [DOI] 10.1016/j.parkreldis.2022.06.016. [PMID] 35803092.
2022
Reply to: “The First Allogeneic Hematopoietic Stem Cell Transplantation in a Polish Patient with Adult-Onset Leukoencephalopathy with Spheroids and Pigmented Glia”.
Movement disorders : official journal of the Movement Disorder Society. 37(7):1572-1573 [DOI] 10.1002/mds.29065. [PMID] 35856729.
2021
Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants.
Molecular genetics & genomic medicine. 9(10) [DOI] 10.1002/mgg3.1799. [PMID] 34510819.
2021
Impact of integrated translational research on clinical exome sequencing.
Genetics in medicine : official journal of the American College of Medical Genetics. 23(3):498-507 [DOI] 10.1038/s41436-020-01005-9. [PMID] 33144682.
2021
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
Neuron. 109(2):241-256.e9 [DOI] 10.1016/j.neuron.2020.10.035. [PMID] 33220177.
2021
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Neurology. Genetics. 7(6) [DOI] 10.1212/NXG.0000000000000613. [PMID] 34790866.
2021
Urine levels of the polyglutamine ataxin-3 protein are elevated in patients with spinocerebellar ataxia type 3.
Parkinsonism & related disorders. 89:151-154 [DOI] 10.1016/j.parkreldis.2021.07.018. [PMID] 34303201.
2020
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.
American journal of human genetics. 106(3):405-411 [DOI] 10.1016/j.ajhg.2020.02.001. [PMID] 32109420.
2020
Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity.
The Journal of clinical endocrinology and metabolism. 105(1) [DOI] 10.1210/clinem/dgz192. [PMID] 31872862.
2020
Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder.
Molecular genetics & genomic medicine. 8(11) [DOI] 10.1002/mgg3.1477. [PMID] 32918542.
2020
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Science advances. 6(49) [DOI] 10.1126/sciadv.abc9207. [PMID] 33268356.
2020
IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria.
Pediatric hematology and oncology. 37(5):431-437 [DOI] 10.1080/08880018.2020.1737284. [PMID] 32166993.
2020
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.
Human mutation. 41(8):1425-1434 [DOI] 10.1002/humu.24050. [PMID] 32442335.
2020
Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3.
Science translational medicine. 12(566) [DOI] 10.1126/scitranslmed.abb7086. [PMID] 33087504.
2019
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.
Journal of inherited metabolic disease. 42(2):264-275 [DOI] 10.1002/jimd.12022. [PMID] 30689204.
2019
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.
Genome medicine. 11(1) [DOI] 10.1186/s13073-019-0630-1. [PMID] 30909959.
2019
Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Genetics in medicine : official journal of the American College of Medical Genetics. 21(11) [DOI] 10.1038/s41436-019-0590-2. [PMID] 31267042.
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.
Genome medicine. 11(1) [DOI] 10.1186/s13073-019-0623-0. [PMID] 30819258.
2019
Dominant collagen XII mutations cause a distal myopathy.
Annals of clinical and translational neurology. 6(10):1980-1988 [DOI] 10.1002/acn3.50882. [PMID] 31509352.
2019
Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys⁻Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations.
Medicina (Kaunas, Lithuania). 55(5) [DOI] 10.3390/medicina55050137. [PMID] 31096651.
2019
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.
American journal of human genetics. 105(6):1237-1253 [DOI] 10.1016/j.ajhg.2019.11.002. [PMID] 31785787.
2019
Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures”.
Bone. 121:163-171 [DOI] 10.1016/j.bone.2018.12.020. [PMID] 30599297.
2019
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.
European journal of human genetics : EJHG. 27(5):747-759 [DOI] 10.1038/s41431-018-0331-z. [PMID] 30664714.
2019
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Genetics in medicine : official journal of the American College of Medical Genetics. 21(12):2713-2722 [DOI] 10.1038/s41436-019-0557-3. [PMID] 31155615.
2018
A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy.
European journal of human genetics : EJHG. 26(9):1294-1305 [DOI] 10.1038/s41431-018-0136-0. [PMID] 29748569.
2018
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
American journal of human genetics. 102(5):995-1007 [DOI] 10.1016/j.ajhg.2018.03.005. [PMID] 29656858.
2018
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
American journal of human genetics. 103(4) [DOI] 10.1016/j.ajhg.2018.09.002. [PMID] 30290155.
2018
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.
JIMD reports. 39:45-54 [DOI] 10.1007/8904_2017_45. [PMID] 28726122.
2018
Encephalocraniocutaneous Lipomatosis.
Journal of pediatric hematology/oncology. 40(7):553-554 [DOI] 10.1097/MPH.0000000000001170. [PMID] 29683947.
2018
Inferred inheritance of MorbidMap genes without OMIM clinical synopsis.
Genetics in medicine : official journal of the American College of Medical Genetics. 20(4):470-473 [DOI] 10.1038/gim.2017.131. [PMID] 28837159.
2018
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.
European journal of human genetics : EJHG. 26(9):1272-1281 [DOI] 10.1038/s41431-018-0187-2. [PMID] 29904177.
2018
Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.
JCI insight. 3(14) [DOI] 10.1172/jci.insight.121596. [PMID] 30046013.
2018
The first case of deafness-dystonia syndrome due to compound heterozygous variants in FITM2.
Clinical case reports. 6(9):1815-1817 [DOI] 10.1002/ccr3.1719. [PMID] 30214770.
2018
βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy.
American journal of human genetics. 102(6):1158-1168 [DOI] 10.1016/j.ajhg.2018.04.012. [PMID] 29861105.
2017
A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis.
Pediatric blood & cancer. 64(9) [DOI] 10.1002/pbc.26571. [PMID] 28453180.
2017
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
PLoS genetics. 13(7) [DOI] 10.1371/journal.pgen.1006905. [PMID] 28742085.
2017
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
American journal of human genetics. 101(5):664-685 [DOI] 10.1016/j.ajhg.2017.09.008. [PMID] 29100083.
2017
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Nature genetics. 49(10):1529-1538 [DOI] 10.1038/ng.3933. [PMID] 28805828.
2016
Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.
The Journal of molecular diagnostics : JMD. 18(3):446-453 [DOI] 10.1016/j.jmoldx.2016.01.002. [PMID] 26944031.
2016
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
American journal of human genetics. 98(5):1001-1010 [DOI] 10.1016/j.ajhg.2016.03.011. [PMID] 27108799.
2016
Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.
Human genetics. 135(11):1263-1268 [PMID] 27481395.
2016
POGZ truncating alleles cause syndromic intellectual disability.
Genome medicine. 8(1) [DOI] 10.1186/s13073-015-0253-0. [PMID] 26739615.
2015
Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.
Molecular genetics and metabolism. 116(4):252-9 [DOI] 10.1016/j.ymgme.2015.10.003. [PMID] 26490222.
2015
Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility.
European journal of human genetics : EJHG. 23(5):663-71 [DOI] 10.1038/ejhg.2014.153. [PMID] 25118026.
2014
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.
Proceedings of the National Academy of Sciences of the United States of America. 111(11):4197-202 [DOI] 10.1073/pnas.1312520111. [PMID] 24591628.
2014
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
American journal of human genetics. 95(5):579-83 [DOI] 10.1016/j.ajhg.2014.09.014. [PMID] 25439098.
2013
A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.
Genetics in medicine : official journal of the American College of Medical Genetics. 15(5):354-60 [DOI] 10.1038/gim.2012.136. [PMID] 23100014.
2013
Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizures.
Epilepsy & behavior case reports. 1:35-8 [DOI] 10.1016/j.ebcr.2013.01.004. [PMID] 25667822.
2012
Innovative therapy for Classic Galactosemia – tale of two HTS.
Molecular genetics and metabolism. 105(1):44-55 [DOI] 10.1016/j.ymgme.2011.09.028. [PMID] 22018723.
2012
Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome.
American journal of medical genetics. Part A. 158A(11):2935-40 [DOI] 10.1002/ajmg.a.35613. [PMID] 22987394.
2010
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
Archives of neurology. 67(2):239-44 [DOI] 10.1001/archneurol.2009.332. [PMID] 20142534.
2010
Molecular and biochemical characterization of human galactokinase and its small molecule inhibitors.
Chemico-biological interactions. 188(3):376-85 [DOI] 10.1016/j.cbi.2010.07.025. [PMID] 20696150.
2009
Galactose toxicity in animals.
IUBMB life. 61(11):1063-74 [DOI] 10.1002/iub.262. [PMID] 19859980.
2009
Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.
The Journal of pediatrics. 155(6):888-892.e1 [DOI] 10.1016/j.jpeds.2009.06.017. [PMID] 19643445.
2008
ARHI: A new target of galactose toxicity in Classic Galactosemia.
Bioscience hypotheses. 1(5):263-271 [PMID] 19122833.
2008
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
Human mutation. 29(2):330-1 [DOI] 10.1002/humu.9519. [PMID] 18205204.
2008
High-throughput screening for human galactokinase inhibitors.
Journal of biomolecular screening. 13(5):415-23 [DOI] 10.1177/1087057108318331. [PMID] 18490662.
2006
Comment on: Loureiro & Rozenfeld “Epidemiology of sickle cell disease hospital admissions in Brazil”.
Revista de saude publica. 40(4):740-1; author reply 741 [PMID] 17063253.
2005
“Minimal intervention management” for gastroschisis: a preliminary report.
The West Indian medical journal. 54(2):152-4 [PMID] 15999889.
2004
Identifying homozygous sickle cell disease when neonatal screening is not available: a clinic-based observational study.
Journal of medical screening. 11(4):175-9 [PMID] 15563773.
2001
Cerebrovascular complications and parvovirus infection in homozygous sickle cell disease.
The Journal of pediatrics. 139(3):438-42 [PMID] 11562626.
2001
Significance of fever in Jamaican patients with homozygous sickle cell disease.
Archives of disease in childhood. 84(2):156-9 [PMID] 11159294.
2001
Survival estimates for patients with homozygous sickle-cell disease in Jamaica: a clinic-based population study.
Lancet (London, England). 357(9257):680-3 [PMID] 11247552.
1997
[Neonatal screening for sickle-cell disease].
Nederlands tijdschrift voor geneeskunde. 141(4):184-7 [PMID] 9064525.
1995
Glomerulonephritis after human parvovirus infection in homozygous sickle-cell disease.
Lancet (London, England). 346(8973):475-6 [PMID] 7637482.
1994
Delayed adolescent growth in homozygous sickle cell disease.
Archives of disease in childhood. 71(5):404-8 [PMID] 7826110.

Contact Details

Phones:
Business:
(352) 273-8234
Addresses:
Business Street:
PO Box 100296
GAINESVILLE FL 32610