List of works - Bert Smeets

A comprehensive strategy for exome-based preconception carrier screening.

scientific article published on 27 October 2016

A molecular genetic approach to myotonic dystrophy

doctoral thesis

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

scientific article published on 21 August 2019

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

scientific article published on 21 November 2011

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

scientific article published on 22 January 2019

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

scientific article published on 31 January 2018

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

scientific article

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

scientific article published on 19 July 2018

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

scientific article

Definition of subchromosomal intervals around the myotonic dystrophy gene region at 19q

scientific article published on 01 April 1989

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

scientific article

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

scientific article published on 01 March 2020

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

scientific article published on 02 September 2020

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

scientific article

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

scientific article published on 13 February 2018

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

scientific article published on 28 June 2010

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

scientific article published on 21 December 2019

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

scientific article published on 24 October 2015

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

scientific article

Lacosamide Inhibition of Na<sub>V</sub>1.7 Channels Depends on its Interaction With the Voltage Sensor Domain and the Channel Pore

scientific article published on 21 December 2021

Lead-exposure associated miRNAs in humans and Alzheimer’s disease as potential biomarkers of the disease and disease processes

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

article

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

scientific article

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

scientific article published on 5 January 2016

Mutation-specific effects in germline transmission of pathogenic mtDNA variants.

scientific article published in July 2018

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

scientific article published on 24 January 2017

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

scientific article published on 12 March 2020

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

scientific article published on 22 July 2015

Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice

scientific article

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

scientific article

Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success

scientific article published in February 2013

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

scientific article published on 9 January 2017

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

scientific article published on 21 October 2016

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

article

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

scientific article published on 18 October 2017

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

scientific article published in May 2007

Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.

scientific article

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

scientific article

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

scientific article published on 12 June 2020

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

scientific article

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

scientific article

Tight linkage between myotonic dystrophy and apolipoprotein E genes revealed with allele-specific oligonucleotides

scientific article published on 01 September 1988

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

scientific article published on 15 September 2015

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

scientific article

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

article by Tom E J Theunissen et al published 2018 in Frontiers in Genetics

List of works by Bert Smeets

A comprehensive strategy for exome-based preconception carrier screening.

A molecular genetic approach to myotonic dystrophy

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

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

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

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

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

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

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

Definition of subchromosomal intervals around the myotonic dystrophy gene region at 19q

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

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

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

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

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

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

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

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

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

Lacosamide Inhibition of Na<sub>V</sub>1.7 Channels Depends on its Interaction With the Voltage Sensor Domain and the Channel Pore

Lead-exposure associated miRNAs in humans and Alzheimer’s disease as potential biomarkers of the disease and disease processes

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

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

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

Mutation-specific effects in germline transmission of pathogenic mtDNA variants.

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

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

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

Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice

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

Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success

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

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

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

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

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

Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

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

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

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

Tight linkage between myotonic dystrophy and apolipoprotein E genes revealed with allele-specific oligonucleotides

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

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

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