H. Smeets

发表

How do changes in the mtDNA and mitochondrial dysfunction influence cancer and cancer therapy? Challenges, opportunities and models.

P. Lambin, M. V. van Gisbergen, A. Voets, 2015, Mutation research. Reviews in mutation research.

Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQT1-related patients (LQTS1).

R. Hauer, H. Smeets, A. Wilde, 1999, Journal of the American College of Cardiology.

Cloning of the essential myotonic dystrophy region and mapping of the putative defect

C. Amemiya, Chira Chen, H. Smeets, 1992, Nature.

Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation system

Martijn A. Huynen, Rutger O. Vogel, Radek Szklarczyk, 2015, BMC Genomics.

Rare novel variants in the ZIC3 gene cause X-linked heterotaxy

H. Smeets, H. Brunner, A. Paulussen, 2016, European Journal of Human Genetics.

Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations

H. Smeets, C. D. de Die-Smulders, D. Hellebrekers, 2020, European Journal of Human Genetics.

Characteristics ofIntergenerationa l Contractions oftheCTG RepeatinMyotonic Dystrophy

A. Roses, H. Smeets, C. Junien, 1994 .

Dietary nitrate does not reduce oxygen cost of exercise or improve muscle mitochondrial function in patients with mitochondrial myopathy.

H. Smeets, N. V. van Riel, K. Nicolay, 2017, American journal of physiology. Regulatory, integrative and comparative physiology.

Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.

H. Smeets, R. de Coo, M. Gerards, 2014, Brain : a journal of neurology.

Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study

E. Formisano, H. Smeets, K. Uludağ, 2018, NeuroImage: Clinical.

A novel stepwise analysis procedure of genome‐wide expression profiles identifies transcript signatures of thiamine genes as classifiers of mitochondrial mutants

M. Bolotin-Fukuhara, H. Smeets, R. Westra, 2008, Yeast.

Identification of novel dyslexia candidate genes through the analysis of a chromosomal deletion

B. Franke, H. Smeets, J. Steyaert, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect

H. Smeets, R. Kamps, R. Verdijk, 2017, Front. Mol. Neurosci..

Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15.

H. Smeets, M. Nelen, B. V. van Oost, 1992, The New England journal of medicine.

Differential effect of lacosamide on Nav1.7 variants from responsive and non-responsive patients with small fibre neuropathy

H. Smeets, S. Dib-Hajj, S. Waxman, 2020, Brain : a journal of neurology.

Yield of peripheral sodium channels gene screening in pure small fibre neuropathy

H. Smeets, S. Waxman, G. Lauria, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy

H. Smeets, E. Wolters, A. van den Wijngaard, 2016, PloS one.

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.

I. D. de Coo, H. Smeets, M. Zeviani, 2005, American journal of human genetics.

Variable clinical manifestation of a novel missense mutation in the alpha-tropomyosin (TPM1) gene in familial hypertrophic cardiomyopathy.

H. Smeets, J. Geraedts, R. Jongbloed, 2003, Journal of the American College of Cardiology.

Novel KCNQ1 and HERG missense mutations in Dutch long‐QT families

H. Smeets, A. Wilde, H. Smeets, 1999, Human mutation.

Age and causes of death in adult-onset myotonic dystrophy.

H. Smeets, C. D. de Die-Smulders, J. Geraedts, 1998, Brain : a journal of neurology.

Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients

G. Breithardt, H. Smeets, W. Haverkamp, 2004, Journal of Molecular Medicine.

Prolonged Nrf1 overexpression triggers adipocyte inflammation and insulin resistance

H. Smeets, C. V. D. van der Kallen, P. Lindsey, 2010, Journal of cellular biochemistry.

Cardiac involvement in adults with m.3243A>G MELAS gene mutation.

H. Smeets, B. J. van den Bosch, F. T. ten Cate, 2007, The American journal of cardiology.

Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.

H. Smeets, B. J. van den Bosch, C. Antignac, 2000, Kidney international.

Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency

H. Smeets, M. Vreeburg, S. Sallevelt, 2021, European Journal of Human Genetics.

Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success

I. D. de Coo, H. Smeets, J. Dreesen, 2013, Journal of Medical Genetics.

Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome.

H. Smeets, C. Antignac, M. Gubler, 1994, Nature genetics.

Mutation in mitochondrial tRNA(Leu(UUR)) gene associated with progressive kidney disease.

H. Smeets, J. Maassen, L. T. ’t Hart, 1997, Journal of the American Society of Nephrology : JASN.

Wnt5b stimulates adipogenesis by activating PPARgamma, and inhibiting the beta-catenin dependent Wnt signaling pathway together with Wnt5a.

H. Smeets, C. V. D. van der Kallen, H. Laeremans, 2009, Biochemical and biophysical research communications.

Regional absence of mitochondria causing energy depletion in the myocardium of muscle LIM protein knockout mice.

P. Doevendans, H. Smeets, B. J. van den Bosch, 2005, Cardiovascular research.

Mitochondrial DNA damage analysis in bronchoalveolar lavage cells of preterm infants.

H. Smeets, L. Zimmermann, E. Villamor, 2010, Frontiers in bioscience.

Different distribution of the genetic subtypes of the Prader–Willi syndrome in the elderly

H. Smeets, M. Sinnema, L. Curfs, 2010, European Journal of Human Genetics.

Mutation-specific effects in germline transmission of pathogenic mtDNA variants

H. Smeets, M. Herbert, A. Paulussen, 2018, Human reproduction.

PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy

H. Smeets, M. Zeviani, A. Paulussen, 2017, Human reproduction.

Differences in Strength and Timing of the mtDNA Bottleneck between Zebrafish Germline and Non-germline Cells.

H. Smeets, B. J. van den Bosch, E. Raz, 2016, Cell reports.

A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2

H. Smeets, A. Paulussen, B. van der Zwaag, 2012, American journal of medical genetics. Part A.

DHPLC analysis of potassium ion channel genes in congenital long QT syndrome

H. Smeets, J. Geraedts, R. Jongbloed, 2002, Human mutation.

Early and transient gene expression changes in pressure overload-induced cardiac hypertrophy in mice.

P. Doevendans, H. Smeets, B. J. van den Bosch, 2006, Genomics.

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

H. Smeets, R. Kamps, B. de Koning, 2018, Front. Genet..

A comprehensive strategy for exome-based preconception carrier screening.

H. Smeets, A. Paulussen, B. de Koning, 2016, Genetics in medicine : official journal of the American College of Medical Genetics.

Additional mitochondrial DNA mutations may explain extra‐ocular involvement in LHON

I. D. de Coo, H. Smeets, P. D. de Jong, 2006, American journal of medical genetics. Part A.

Normal phenotype in two brothers with a full FMR1 mutation.

H. Smeets, B. Oostra, J. Oosterwijk, 1995, Human molecular genetics.

Familial Angelman syndrome with a crossover in the critical deletion region.

H. Smeets, M. Nelen, W. Nillesen, 1994, American journal of medical genetics.

Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association.

H. Smeets, T. Ayoubi, W. Sluiter, 2010, Biochemical and biophysical research communications.

Peripheral Ion Channel Gene Screening in Painful- and Painless-Diabetic Neuropathy

H. Smeets, S. Waxman, E. Salvi, 2022, International journal of molecular sciences.

Yeast Artificial Chromosome Cloning of the Xq13.3-q21.31 Region and Fine Mapping of a Deletion Associated with Choroideremia and Nonspecific Mental Retardation

A. Monaco, H. Smeets, J. T. Dunnen, 1995, European journal of human genetics : EJHG.

Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene

H. Smeets, H. Degenhart, I. D. de Wijs, 2003, Journal of medical genetics.

Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation.

I. D. de Coo, H. Smeets, B. V. van Oost, 1996, American journal of human genetics.

A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders

I. D. de Coo, H. Smeets, V. Tiranti, 2013, Mitochondrion.

Novel pathogenic SLC25A46 splice‐site mutation causes an optic atrophy spectrum disorder

I. D. de Coo, H. Smeets, D. Hellebrekers, 2017, Clinical genetics.

HERG mutation predicts short QT based on channel kinetics but causes long QT by heterotetrameric trafficking deficiency.

H. Smeets, A. Wilde, A. Paulussen, 2005, Cardiovascular research.

Mutations in the type IV collagen α3 (COL4A3) gene in autosomal recessive Alport syndrome

H. Smeets, H. Brunner, B. V. van Oost, 1994 .

Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome.

H. Smeets, M. Nelen, J. Melenhorst, 1992, Kidney international.

Lacosamide Inhibition of NaV1.7 Channels Depends on its Interaction With the Voltage Sensor Domain and the Channel Pore

H. Smeets, S. Dib-Hajj, S. Waxman, 2021, Frontiers in Pharmacology.

The structure of the human NDUFV1 gene encoding the 51-kDa subunit of mitochondrial complex I

H. Smeets, B. V. van Oost, R. de Coo, 1999, Mammalian Genome.

Molecular cloning and characterization of the human mitochondrial NADH:oxidoreductase 10-kDa gene (NDUFV3).

H. Smeets, B. V. van Oost, R. de Coo, 1997, Genomics.

Molecular cloning and characterization of the active human mitochondrial NADH:ubiquinone oxidoreductase 24-kDa gene (NDUFV2) and its pseudogene.

H. Smeets, D. Weghuis, B. V. van Oost, 1995, Genomics.

Patients with Leber hereditary optic neuropathy fail to compensate impaired oxidative phosphorylation.

H. Smeets, W. Sluiter, A. Korsten, 2010, Biochimica et biophysica acta.

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

H. Smeets, A. Paulussen, A. Haeringen, 2010, European Journal of Human Genetics.

A simplified and reliable assay for complex I in human blood lymphocytes.

I. D. de Coo, H. Smeets, W. Sluiter, 2007, Journal of immunological methods.

Aortic distensibility alterations in adults with m.3243A>G MELAS gene mutation.

H. Smeets, F. T. ten Cate, W. Vletter, 2009, Swiss medical weekly.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency

T. Wieland, A. Munnich, H. Smeets, 2018 .

Rett syndrome in females with CTS hot spot deletions: A disorder profile

H. Smeets, G. Matthijs, J. Herbergs, 2005, American journal of medical genetics. Part A.

Aberrant splicing of the COL4A5 gene in patients with Alport syndrome.

H. Smeets, H. Brunner, L. Kluijtmans, 1994, Human molecular genetics.

Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.

H. Smeets, H. Brunner, B. V. van Oost, 1994, Human molecular genetics.

RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis

H. Smeets, R. Rodenburg, P. Bonnen, 2022, The Journal of clinical investigation.

Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot–Marie–Tooth neuropathy and early hearing loss

H. Smeets, P. Hofman, F. Spaans, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene

H. Smeets, F. Jansen, M. Haak, 2016, Clinical case reports.

Rett syndrome in adolescent and adult females: Clinical and molecular genetic findings

H. Smeets, G. Matthijs, J. Herbergs, 2003, American journal of medical genetics. Part A.

Preimplantation genetic diagnosis for mitochondrial DNA mutations: analysis of one blastomere suffices

H. Smeets, A. Paulussen, J. Dreesen, 2017, Journal of Medical Genetics.

Preventing the transmission of mitochondrial DNA disorders: selecting the good guys or kicking out the bad guys.

H. Smeets, 2013, Reproductive biomedicine online.

PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring.

I. D. de Coo, H. Smeets, J. Geraedts, 2012, Human reproduction update.

Dealing with uncertainties: ethics of prenatal diagnosis and preimplantation genetic diagnosis to prevent mitochondrial disorders.

H. Smeets, A. Bredenoord, G. Pennings, 2008, Human reproduction update.

SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations

H. Smeets, J. Dreesen, M. Drüsedau, 2012, European Journal of Human Genetics.

The transmission of OXPHOS disease and methods to prevent this.

I. D. de Coo, H. Smeets, J. Geraedts, 2006, Human reproduction update.

Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis

H. Smeets, J. Dreesen, S. Sallevelt, 2015, Annals of the New York Academy of Sciences.

De novo mtDNA point mutations are common and have a low recurrence risk

Robert W. Taylor, H. Smeets, C. D. de Die-Smulders, 2016, Journal of Medical Genetics.

Replication Errors Made During Oogenesis Lead to Detectable De Novo mtDNA Mutations in Zebrafish Oocytes with a Low mtDNA Copy Number

H. Smeets, R. Kamps, M. Adriaens, 2016, Genetics.

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

Robert W. Taylor, H. Smeets, M. Zeviani, 2016, Human molecular genetics.

Selecting the Right Embryo in Mitochondrial Disorders

H. Smeets, J. Dreesen, S. Sallevelt, 2015 .

Evolutionary defined role of the mitochondrial DNA in fertility, disease and ageing.

H. Smeets, A. Otten, 2015, Human reproduction update.

Dysregulation of the NRG1-ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.

T. Molina, H. Smeets, R. Hofstra, 2021, The Journal of clinical investigation.

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.

H. Smeets, R. Kamps, B. J. van den Bosch, 2013, Brain : a journal of neurology.

Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options.

H. Smeets, S. Sallevelt, M. Gerards, 2016, Molecular genetics and metabolism.

Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy.

H. Smeets, R. Wanders, B. J. van den Bosch, 2015, JIMD reports.

Use of variable simple sequence motifs as genetic markers: application to study of myotonic dystrophy

H. Smeets, H. Brunner, H. Ropers, 1989, Human Genetics.

No association between TGF-β1 polymorphisms and radiation-induced lung toxicity in a European cohort of lung cancer patients.

P. Lambin, H. Thierens, A. Voets, 2012, Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology.

Blood biomarkers for assessment of mitochondrial dysfunction: An expert review.

I. D. de Coo, H. Smeets, T. Gorgels, 2021, Mitochondrion.

Fitter Mitochondria Are Associated With Radioresistance in Human Head and Neck SQD9 Cancer Cells

P. Lambin, M. V. van Gisbergen, H. Smeets, 2020, Frontiers in Pharmacology.

Tfam Knockdown Results in Reduction of mtDNA Copy Number, OXPHOS Deficiency and Abnormalities in Zebrafish Embryos

H. Smeets, R. Kamps, M. Gerards, 2019, bioRxiv.

Hydropathicity-based prediction of pain-causing NaV1.7 variants

Yang Yang, Ronald L. Westra, Dimos Kapetis, 2021, BMC Bioinformatics.

Network topology of NaV1.7 mutations in sodium channel-related painful disorders

Filippo Martinelli-Boneschi, Andrea Zauli, Ronald L. Westra, 2017, BMC Systems Biology.

Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing

H. Smeets, S. Dib-Hajj, S. Waxman, 2020, PloS one.

A zebrafish model to study small-fiber neuropathy reveals a potential role for GDAP1.

H. Smeets, J. Hoeijmakers, C. Faber, 2019, Mitochondrion.

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

H. Smeets, R. Kamps, B. de Koning, 2016, Front. Neurol..

Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors.

H. Smeets, C. Antignac, A. De Paepe, 1993, Science.

Defective NDUFA9 as a novel cause of neonatally fatal complex I disease

I. D. de Coo, H. Smeets, H. Prokisch, 2011, Journal of Medical Genetics.

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

H. Smeets, J. Bierau, S. Sallevelt, 2017, European Journal of Human Genetics.

PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers

H. Smeets, A. Paulussen, M. Blok, 2013, European Journal of Human Genetics.

Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.

H. Smeets, H. Brunner, A. Paulussen, 2016, European heart journal.

The clinical spectrum of type IV collagen mutations

H. Smeets, L. Monnens, H. Lemmink, 1997 .

Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis

Robert W. Taylor, H. Smeets, P. Bonnen, 2019, Annals of clinical and translational neurology.

Hereditary disorders of the glomerular basement membrane

H. Smeets, L. Monnens, H. Lemmink, 1996, Pediatric Nephrology.

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

M. Nöthen, H. Smeets, A. V. D. van den Ouweland, 1998, American journal of human genetics.

Myogenic Cell Transplantation in Genetic and Acquired Diseases of Skeletal Muscle

H. Smeets, G. Butler-Browne, V. Mouly, 2021, Frontiers in Genetics.

Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.

H. Smeets, R. Hennekam, S. Zinn-Justin, 2006, Human molecular genetics.

Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole‐Exome Sequencing

Radek Szklarczyk, H. Smeets, R. Kamps, 2017, The Journal of pediatrics.

Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4).

H. Smeets, A. Maxwell, A. Hughes, 1997, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Paternal transmission of congenital myotonic dystrophy.

H. Smeets, C. D. de Die-Smulders, J. Geraedts, 1997, Journal of medical genetics.

X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy.

H. Smeets, M. Zeviani, P. Chinnery, 2007, Molecular vision.

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

M. Pericak-Vance, H. Smeets, S. Züchner, 2008, Brain : a journal of neurology.

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

H. Smeets, T. de Ravel, K. Devriendt, 2011, Human mutation.

A comprehensive strategy for exome-based preconception carrier screening

H. Smeets, A. Paulussen, B. de Koning, 2016, Genetics in Medicine.

Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family.

H. Smeets, H. Brunner, C. D. de Die-Smulders, 1994, Journal of medical genetics.

Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.

H. Smeets, H. Brunner, B. V. van Oost, 1996, The Journal of clinical investigation.

Identification of mutations in the α3(IV) and α4(IV) collagen genes in autosomal recessive Alport syndrome

H. Smeets, C. Antignac, M. Gubler, 1994, Nature Genetics.

Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study

N. van Alfen, H. Smeets, B. V. van Engelen, 2021, BMC Neurology.

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease

H. Smeets, R. Kamps, B. J. van den Bosch, 2018, European Journal of Human Genetics.

Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution.

A. Voets, H. Smeets, B. J. van den Bosch, 2011, Mitochondrion.

Molecular Cloning and Characterization of the Human Mitochondrial NADH : Oxidoreductase 10-kDa Gene ( NDUFV 3 )

H. Smeets, R. Coo, B. Oost, 1997 .

Preadipocytes of type 2 diabetes subjects display an intrinsic gene expression profile of decreased differentiation capacity

H. Smeets, R. Wanders, R. Wanders, 2011, International Journal of Obesity.

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.

H. Smeets, M. Koenig, J. Mandel, 2010, Human molecular genetics.

Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.

H. Smeets, B. Wieringa, P. Willems, 1994, American journal of human genetics.

Brief report: reverse mutation in myotonic dystrophy.

H. Smeets, M. Nelen, H. Brunner, 1993, The New England journal of medicine.

The unfolding clinical spectrum of POLG mutations

H. Smeets, B. J. van den Bosch, B. Poll-The, 2009, Journal of Medical Genetics.

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene.

H. Smeets, H. Prokisch, R. Wanders, 2011, Brain : a journal of neurology.

A randomised controlled phase II trial of pre-operative celecoxib treatment reveals anti-tumour transcriptional response in primary breast cancer

Patrick Lindsey, Koen K Van de Vijver, Jürgen Veeck, 2013, Breast Cancer Research.

Biologically relevant effects of mRNA amplification on gene expression profiles

Chris T. A. Evelo, Yigal M. Pinto, Arie van Erk, 2006, BMC Bioinformatics.

Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene

H. Smeets, L. Reneman, F. Bleeker, 2021, Clinical Neurology and Neurosurgery.

neuromuscular junction microdissection: three novel components of the Intracellular expression profiling by laser capture

E. Hoffman, H. Smeets, T. Ayoubi, 2015 .

The clinical spectrum of type IV collagen mutations.

H. Smeets, L. Monnens, H. Lemmink, 1997, Human mutation.

Mutations in the type IV collagen a 2 ( COL 4 A 3 ) gene in autosomal recessive Alport syndrome

H. Smeets, H. Brunner, L. Monnens, 2005 .

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.

H. Smeets, J. Jais, M. Sanak, 2003, Journal of the American Society of Nephrology : JASN.

X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.

H. Smeets, J. Jais, M. Sanak, 2000, Journal of the American Society of Nephrology : JASN.

Myotonic dystrophy is closely linked to the gene for muscle-type creatine kinase (CKMM)

H. Smeets, H. Brunner, B. Wieringa, 1989, Human Genetics.

A COL4A3 gene mutation and post-transplant anti-alpha 3(IV) collagen alloantibodies in Alport syndrome.

H. Smeets, R. Kalluri, L. V. D. Heuvel, 1995, Kidney international.

Nephrology Dialysis Transplantation Identification of post-transplant anti-« 5 ( IY ) collagen alloantibodies in X-linked Alport syndrome

J. Foidart, H. Smeets, K. Tryggvason, 2005 .

Identification of post-transplant anti-alpha 5(IV) collagen alloantibodies in X-linked Alport syndrome

J. Foidart, H. Smeets, K. Tryggvason, 1996 .

Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin.

H. Smeets, M. Breuning, L. Monnens, 1999, Kidney international.

In-silico dissection of tumours and its application in the identification of the tissue of origin of cancers of unknown primary site

H. Smeets, T. Ayoubi, P. Lindsey, 2011 .

Physical mapping and cloning of the proximal segment of the myotonic dystrophy gene region.

H. Smeets, G. Shutler, B. Wieringa, 1992, Genomics.

Presymptomatic diagnosis of myotonic dystrophy.

H. Smeets, H. Brunner, B. V. van Oost, 1992, Journal of medical genetics.

Myotonic dystrophy. Predictive value of normal results on clinical examination.

H. Smeets, H. Brunner, B. V. van Oost, 1991, Brain : a journal of neurology.

Neurodegenerative and functional signatures of the cerebellar cortex in m.3243A > G patients

Ali R. Khan, H. Smeets, K. Uludağ, 2021, bioRxiv.

A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy

Robert W. Taylor, H. Smeets, G. Falkous, 2019, Neuromuscular Disorders.

The moderating effect of alcohol-specific parental rule-setting on the relation between the dopamine D2 receptor gene (DRD2), the μ-opioid receptor gene (OPRM1) and alcohol use in young adolescents.

H. Smeets, R. Wiers, R. Engels, 2012, Alcohol and alcoholism.

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Robert W. Taylor, S. Dimauro, H. Smeets, 2012, Brain : a journal of neurology.

Patient-derived fibroblasts indicate oxidative stress status and may justify antioxidant therapy in OXPHOS disorders.

A. Voets, I. D. de Coo, H. Smeets, 2012, Biochimica et biophysica acta.

Non-extensitivity and criticality of atomic hydropathicity around a voltage-gated sodium channel’s pore: a modeling study

H. Smeets, S. Waxman, R. Westra, 2021, Journal of Biological Physics.

Influence of mutation type on clinical expression of Leber hereditary optic neuropathy.

H. Smeets, A. Plomp, C. D. de Die-Smulders, 2006, American journal of ophthalmology.

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.

Patrick F Chinnery, Massimo Zeviani, Rubens Belfort, 2007, American journal of human genetics.

Physical activity is the key determinant of skeletal muscle mitochondrial function in type 2 diabetes.

N. M. van den Broek, H. Smeets, K. Nicolay, 2012, The Journal of clinical endocrinology and metabolism.

Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome.

H. Smeets, M. Nelen, H. Brunner, 1992, Journal of medical genetics.

Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A>G tRNALeu mutation

I. D. de Coo, H. Smeets, T. Ayoubi, 2008, Journal of Medical Genetics.

A 4–base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome

I. D. de Coo, H. Smeets, B. V. van Oost, 1999, Annals of neurology.

Session 42: Preimplantation Genetic Diagnosis

H. Smeets, A. Mercader, C. Rubio, 2010 .

Mitochondrial DNA copy number in colorectal cancer: between tissue comparisons, clinicopathological characteristics and survival.

P. A. van den Brandt, A. Voets, H. Smeets, 2015, Carcinogenesis.

Transcriptional changes in OXPHOS complex I deficiency are related to anti-oxidant pathways and could explain the disturbed calcium homeostasis.

A. Voets, H. Smeets, R. Rodenburg, 2012, Biochimica et biophysica acta.

Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific fish.

H. Smeets, J. Geraedts, J. Engelen, 1999, Genetic counseling.

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

I. D. de Coo, H. Smeets, B. J. van den Bosch, 2009, Journal of Medical Genetics.

A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.

H. Smeets, R. Hintzen, W. Sluiter, 2007, Archives of neurology.

Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease

I. D. de Coo, H. Smeets, M. Blok, 2007, Journal of Medical Genetics.

Phenotypic consequences of a novel SCO2 gene mutation

H. Smeets, V. Tiranti, R. Verdijk, 2008, American journal of medical genetics. Part A.

Human NDUFS3 gene coding for the 30-kDa subunit of mitochondrial Complex I: genomic organization and expression

P. Lescuyer, H. Smeets, V. Procaccio, 2000, Mammalian Genome.

Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts.

H. Smeets, V. Procaccio, G. Putet, 1999, The Journal of clinical investigation.

mtDNA point mutations are present at various levels of heteroplasmy in human oocytes.

H. Smeets, P. Chinnery, J. Dumoulin, 2007, Molecular human reproduction.

Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients

H. Smeets, V. Tiranti, R. Hintzen, 2006, Genetics in Medicine.

A mitochondrial tRNAVal gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes

I. D. de Coo, H. Smeets, C. Catsman-Berrevoets, 1998, Neurology.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Robert W. Taylor, T. Wieland, A. Munnich, 2018, Orphanet Journal of Rare Diseases.

Healthy, mtDNA-mutation free mesoangioblasts from mtDNA patients qualify for autologous therapy

M. V. van Gisbergen, H. Smeets, M. Sampaolesi, 2019, Stem Cell Research & Therapy.

Altered myocardial gene expression reveals possible maladaptive processes in heterozygous and homozygous cardiac myosin-binding protein C knockout mice.

P. Doevendans, H. Smeets, B. J. van den Bosch, 2008, Genomics.

Expression of pathogenic SCN9A mutations in the zebrafish: A model to study small-fiber neuropathy

H. Smeets, S. Waxman, G. Lauria, 2019, Experimental Neurology.

Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography.

H. Smeets, B. J. van den Bosch, C. D. de Die-Smulders, 2000, Nucleic acids research.

Autosomal dominant Alport syndrome linked to the type IV collagen alpha3 and alpha4 genes

H. Smeets, A. Maxwell, A. Hughes, 1997 .

Serotonin transporter polymorphisms and the occurrence of adverse events during treatment with selective serotonin reuptake inhibitors

H. Smeets, M. Prins, K. Smits, 2007, International clinical psychopharmacology.

Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients.

H. Smeets, W. Wuyts, G. Van Camp, 2008, Mitochondrion.

Electrical signals affect the cardiomyocyte transcriptome independently of contraction.

H. Smeets, J. Broers, J. Geraedts, 2010, Physiological genomics.

Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy

H. Smeets, S. Waxman, E. Salvi, 2022, International journal of molecular sciences.

A functional polymorphism of the mu-opioid receptor gene (OPRM1) influences cue-induced craving for alcohol in male heavy drinkers.

H. Smeets, R. Wiers, G. V. van Breukelen, 2007, Alcoholism, clinical and experimental research.

Pearson syndrome and the role of deletion dimers and duplications in the mtDNA

I. D. de Coo, H. Smeets, J. Geraedts, 2004, Journal of Inherited Metabolic Disease.

Cumulative hydropathic topology of a voltage‐gated sodium channel at atomic resolution

H. Smeets, S. Waxman, R. Westra, 2020, Proteins.

Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy.

H. Smeets, B. J. van den Bosch, M. Tijssen, 2010, Mitochondrion.

Healthy, mtDNA-mutation free mesoangioblasts from mtDNA patients qualify for autologous therapy

M. V. van Gisbergen, H. Smeets, M. Sampaolesi, 2019, Stem Cell Research & Therapy.

Low mitochondrial DNA copy number in buffy coat DNA of primary open-angle glaucoma patients.

H. Smeets, T. Berendschot, T. Gorgels, 2023, Experimental eye research.

Fusion of Wild-Type Mesoangioblasts with Myotubes of mtDNA Mutation Carriers Leads to a Proportional Reduction in mtDNA Mutation Load

H. Smeets, A. Hopman, Somaieh Ahmadian, 2023, International journal of molecular sciences.

Merosin deficient congenital muscular dystrophy type 1A: An international workshop on the road to therapy 15-17 November 2019, Maastricht, the Netherlands

H. Smeets, M. Ruegg, N. Voermans, 2021, Neuromuscular Disorders.

The effect of the OPRM1 and DRD4 polymorphisms on the relation between attentional bias and alcohol use in adolescence and young adulthood

H. Smeets, R. Wiers, M. Field, 2011, Developmental Cognitive Neuroscience.

Genetic moderation of CO2-induced fear by 5-HTTLPR genotype

H. Smeets, J. van os, M. Wichers, 2011, Journal of psychopharmacology.

The influence of 5-HTTLPR and STin2 polymorphisms in the serotonin transporter gene on treatment effect of selective serotonin reuptake inhibitors in depressive patients

H. Smeets, M. Prins, J. van Os, 2008, Psychiatric genetics.

Inherited mitochondrial variants are not a major cause of age-related hearing impairment in the European population.

A. Voets, H. Smeets, J. Huyghe, 2011, Mitochondrion.

Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

E. Roeder, D. Cummings, H. Smeets, 2009, Journal of Medical Genetics.

Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions

H. Smeets, P. Govindaraj, A. Taly, 2021, Neuromuscular Disorders.

Transmission and prenatal diagnosis of the T9176C mitochondrial DNA mutation.

I. D. de Coo, H. Smeets, J. Geraedts, 2004, Molecular human reproduction.

Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy

H. Smeets, R. Kamps, D. Hellebrekers, 2015, European Journal of Human Genetics.