K. Wierenga

发表

Inferred inheritance of MorbidMap genes without OMIM clinical synopsis

A. Shakir, M. Ripperger, Zhijie Jiang, 2017, Genetics in Medicine.

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

J. Mulvihill, Zhijie Jiang, K. Wierenga, 2012, Genetics in Medicine.

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

J. Church, N. Hauser, C. Strom, 2014, European Journal of Human Genetics.

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

P. Jayakar, Weihong Xu, Shibo Li, 2012, American journal of medical genetics. Part A.

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

J. Rosenfeld, I. Scheffer, H. Mefford, 2016, American journal of human genetics.

Innovative therapy for Classic Galactosemia - tale of two HTS.

K. Wierenga, H. Vankayalapati, K Lai, 2012, Molecular genetics and metabolism.

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

François Dubeau, Guillaume Bourque, Ange-Line Bruel, 2017, American journal of human genetics.

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

F. Eichler, K. Wierenga, R. Battini, 2015, Molecular genetics and metabolism.

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

Colin A. Johnson, Martin W. Breuss, P. Gaffney, 2020, Neuron.

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

F. Alkuraya, S. Arold, K. Wierenga, 2016, Human Genetics.

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

N. Staff, L. Petrucelli, H. Paulson, 2020, Science Translational Medicine.

Significance of fever in Jamaican patients with homozygous sickle cell disease

I. Hambleton, K. Wierenga, G. Serjeant, 2001, Archives of disease in childhood.

Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants

K. Wierenga, E. Klee, R. Gavrilova, 2021, Molecular genetics & genomic medicine.

Cerebrovascular complications and parvovirus infection in homozygous sickle cell disease.

K. Wierenga, G. Serjeant, B. Serjeant, 2001, The Journal of pediatrics.

PLA2G6-associated neurodegeneration in four different populations-case series and literature review.

Babylakshmi Muthusamy, R. Uitti, Z. Wszolek, 2022, Parkinsonism & related disorders.

The Human Genome and Epigenome

J. Mulvihill, K. Wierenga, C. Kerksick, 2010 .

Urine levels of the polyglutamine ataxin-3 protein are elevated in patients with spinocerebellar ataxia type 3

L. Petrucelli, J. Friedman, R. Uitti, 2021, Parkinsonism & related disorders.

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

K. Wierenga, T. Caulfield, P. Atwal, 2019, Medicina.

Use of Site-Directed Mutagenesis in the Diagnosis, Prognosis and Treatment of Galactosemia

K. Wierenga, M. Tang, K. Lai, 2013 .

ARHI: A new target of galactose toxicity in Classic Galactosemia.

K. Wierenga, M. Tang, K. Lai, 2008, Bioscience hypotheses.

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

P. Gaffney, K. Wierenga, J. Guthridge, 2018, JCI insight.

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

J. Rosenfeld, F. Alkuraya, A. Afenjar, 2019, American journal of human genetics.

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

K. Wierenga, A. Srinivasan, Sandeep S. Prabhu, 2020, Pediatric hematology and oncology.

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

S. Dimauro, L. Lagae, P. Jayakar, 2010, Archives of neurology.

High-Throughput Screening for Human Galactokinase Inhibitors

Peter Buchwald, Manshu Tang, Kent Lai, 2008, Journal of biomolecular screening.

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

John J. Mitchell, W. Craigen, K. Wierenga, 2016, The Journal of molecular diagnostics : JMD.

Identifying homozygous sickle cell disease when neonatal screening is not available: a clinic-based observational study

I. Hambleton, K. Wierenga, 2004, Journal of medical screening.

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

E. Neufeld, A. Bagg, K. Wierenga, 2009, The Journal of pediatrics.

POGZ truncating alleles cause syndromic intellectual disability

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, Genome Medicine.

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

O. Mäkitie, C. Kim, K. Wierenga, 2019, Bone.

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

P. Newburger, K. Wierenga, M. Munson, 2017, Pediatric blood & cancer.

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

P. Gaffney, N. Katsanis, K. Wierenga, 2014, Proceedings of the National Academy of Sciences.

Survival estimates for patients with homozygous sickle-cell disease in Jamaica: a clinic-based population study

I. Hambleton, K. Wierenga, N. Lewis, 2001, The Lancet.

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

R. Carrozzo, W. Craigen, G. Enns, 2008, Human mutation.

Galactose toxicity in animals

L. Elsas, K. Wierenga, K. Lai, 2009, IUBMB life.

Delayed adolescent growth in homozygous sickle cell disease.

K. Wierenga, A. Singhal, G. Serjeant, 1994, Archives of disease in childhood.

Is there an energy deficiency in homozygous sickle cell disease?

K. Wierenga, A. Singhal, G. Serjeant, 1995, The American journal of clinical nutrition.

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

K. Wierenga, K Lai, M Tang, 2010, Chemico-biological interactions.

Reply to: “The First Allogeneic Hematopoietic Stem Cell Transplantation in a Polish Patient with Adult‐Onset Leukoencephalopathy with Spheroids and Pigmented Glia”

Z. Wszolek, K. Wierenga, P. Tipton, 2022, Movement Disorders.

POGZ truncating alleles cause syndromic intellectual disability

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, Genome Medicine.

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

Mahshid S. Azamian, J. Lupski, R. Gibbs, 2014, American journal of human genetics.

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

J. Lupski, S. Jhangiani, J. Belmont, 2018, European Journal of Human Genetics.

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

Michael F. Wangler, J. Rosenfeld, J. Lupski, 2017, PLoS genetics.

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.

L. Vissers, R. Pfundt, B. D. de Vries, 2020, American journal of human genetics.

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

K. Wierenga, Y. Ng, F. Pascual, 2013, Epilepsy & Behavior Case Reports.

Neuropathological Findings of CSF1R‐Related Leukoencephalopathy After Long‐Term Immunosuppressive Therapy

D. Dickson, Z. Wszolek, K. Wierenga, 2022, Movement disorders : official journal of the Movement Disorder Society.

Glomerulonephritis after human parvovirus infection in homozygous sickle-cell disease

K. Wierenga, N. Brink, G. Serjeant, 1995, The Lancet.

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

Neil H. Parker, Dylan M. Marchione, R. Redon, 2020, Science Advances.

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

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

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

J. Schuurs-Hoeijmakers, M. Reijnders, H. Brunner, 2018, American journal of human genetics.

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

P. Gaffney, K. Wierenga, X. Ortiz-González, 2018, American journal of human genetics.

Comment on: Loureiro & Rozenfeld "Epidemiology of sickle cell disease hospital admissions in Brazil".

I. Hambleton, K. Wierenga, 2006, Revista de saude publica.

Impact of integrated translational research on clinical exome sequencing

Michael T. Zimmermann, Gavin R. Oliver, Tammy M. McAllister, 2020, Genetics in Medicine.

Encephalocraniocutaneous Lipomatosis.

K. Wierenga, Rikin Shah, A. Bavle, 2018, Journal of pediatric hematology/oncology.

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

G. Cooper, S. Papuc, J. Schreiber, 2019, European Journal of Human Genetics.

M. Reijnders, D. Segal, E. Wirrell, 2021, Neurology. Genetics.

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

J. Rosenfeld, K. Flanigan, K. Wierenga, 2019, Genetics in Medicine.

Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome

K. Wierenga, E. Klee, Björn Oskarsson, 2021, Molecular genetics & genomic medicine.

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

Jeremy F. P. Ullmann, Sebastian A. Leidel, E. Roeder, 2017, Nature Genetics.

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

K. Devriendt, H. Stewart, Marilyn C. Jones, 2018, European Journal of Human Genetics.

Dominant collagen XII mutations cause a distal myopathy

R. Finkel, N. Staff, L. Medne, 2019, Annals of clinical and translational neurology.

ACTIVATING MUTATIONS IN STIM1 AND ORAI1 CAUSE OVERLAPPING SYNDROMES OF TUBULAR AGGREGATE MYOPATHY AND CONGENITAL MIOSIS

K. Wierenga, A. Wills, F. Bremner, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

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

J. Schuurs-Hoeijmakers, M. Reijnders, H. Brunner, 2018, American journal of human genetics.

A novel clinicopathologic entity causing rapidly progressive cerebellar ataxia?

Z. Wszolek, K. Wierenga, S. Koga, 2022, Parkinsonism & related disorders.

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

J. Lupski, S. Jhangiani, J. Belmont, 2018, European Journal of Human Genetics.

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

T. Roscioli, Meredith Wilson, J. Christodoulou, 2020, Human mutation.

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

E. Bertini, R. Carrozzo, A. Kessel, 2019, Journal of inherited metabolic disease.

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

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Adult polyglucosan body disease with reduced glycogen branching enzyme activity and heterozygous GBE1 mutation mimicking a low-grade glioma

K. Wierenga, K. Fung, E. Wartchow, 2016 .

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

A. Shakir, K. Wierenga, Alexandrea F. Wadley, 2018, Clinical case reports.

Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder

K. Clark, K. Wierenga, K. Martemyanov, 2020, Molecular genetics & genomic medicine.

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

Meghan C Towne, S. Ferdinandusse, C. Brownstein, 2018, JIMD reports.

Prenatal Diagnosis of Osteopathia Striata with Cranial Sclerosis in a Male Fetus with a ~330kb Deletion of Xq11.1 Involving the WTX Gene

Jiyun Lee, Shibo Li, K. Wierenga, 2013 .

Rare Genetic Cases of Heterotopic Ossification

K. Wierenga, A. Mallappa, A. Vishwanath, 2012 .

Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions

Z. Wszolek, K. Wierenga, R. Dhamija, 2023, Frontiers in neurology.

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

O. Migita, C. Tifft, W. Gahl, 2021, Journal of Medical Genetics.

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

P. Gaffney, N. Katsanis, K. Wierenga, 2014, Proceedings of the National Academy of Sciences.

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

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

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

G. Cooper, S. Papuc, J. Schreiber, 2019, European Journal of Human Genetics.

Functional analysis of the SIM1 variant p.G715V in two patients with obesity.

P. Blackburn, K. Wierenga, M. Whitelaw, 2019, The Journal of clinical endocrinology and metabolism.

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

J. Rosenfeld, I. Scheffer, H. Mefford, 2017, American journal of human genetics.

Penicillin-resistant Streptococcus pneumoniae in a Jamaican patient with homozygous sickle-cell disease.

K. Wierenga, G. Serjeant, F. Moosdeen, 1996, The West Indian medical journal.

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.

J. Rosenfeld, J. Lupski, C. Bönnemann, 2023, American journal of human genetics.