Johanna C. Herkert
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View article: CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature Open
View article: Novel variants in the SOX11 gene: clinical description of seven new patients
Novel variants in the SOX11 gene: clinical description of seven new patients Open
View article: Loss‐of‐Function Variants in <scp><i>CUL3</i></scp> Cause a Syndromic Neurodevelopmental Disorder
Loss‐of‐Function Variants in <span><i>CUL3</i></span> Cause a Syndromic Neurodevelopmental Disorder Open
Objective De novo variants in cullin‐3 ubiquitin ligase ( CUL3 ) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here, we aimed to collect sporadic cases carrying …
View article: Novel variants in the SOX11 gene: additional evidence for the involvement of SOX11 in hypogonadotropic hypogonadism
Novel variants in the SOX11 gene: additional evidence for the involvement of SOX11 in hypogonadotropic hypogonadism Open
Pathogenic SOX11 variants have been associated with intellectual developmental disorder with microcephaly, and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH, OMIM # 615866). In this article, we report seven …
View article: Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic <i>ALPK3</i> -Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum
Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic <i>ALPK3</i> -Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum Open
View article: Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies
Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies Open
View article: Models of <i>KPTN</i>-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes
Models of <i>KPTN</i>-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes Open
KPTN-related disorder is an autosomal recessive disorder associated with germline variants in KPTN (previously known as kaptin), a component of the mTOR regulatory complex KICSTOR. To gain further insights into the pathogenesis of KPTN-rel…
View article: Loss-of-function variants in<i>CUL3</i>cause a syndromic neurodevelopmental disorder
Loss-of-function variants in<i>CUL3</i>cause a syndromic neurodevelopmental disorder Open
Purpose De novo variants in CUL3 (Cullin-3 ubiquitin ligase) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here we aimed to collect sporadic cases carrying rare …
View article: <scp>POU3F3</scp> ‐related disorder: Defining the phenotype and expanding the molecular spectrum
<span>POU3F3</span> ‐related disorder: Defining the phenotype and expanding the molecular spectrum Open
POU3F3 variants cause developmental delay, behavioral problems, hypotonia and dysmorphic features. We investigated the phenotypic and genetic landscape, and genotype–phenotype correlations in individuals with POU3F3‐related disorders. We r…
View article: Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway Open
View article: Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification
Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification Open
Background: This study aimed to describe the current practice and results of genetic evaluation in Dutch children with dilated cardiomyopathy and to evaluate genotype-phenotype correlations that may guide prognosis. Methods: We performed a…
View article: Mouse and cellular models of <i>KPTN</i>-related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes
Mouse and cellular models of <i>KPTN</i>-related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes Open
KPTN -related disorder (KRD) is an autosomal recessive disorder associated with germline variants in KPTN ( kaptin ), a component of the mTOR regulatory complex KICSTOR. To gain further insights into the pathogenesis of KRD, we analysed mo…
View article: Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy
Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy Open
We report a 19-month-old patient with cardiomyopathy as the first presenting feature of primary COQ10 deficiency-6. This case expands the phenotypic spectrum of this disorder. Furthermore, it shows that genetic testing for primary COQ10 de…
View article: Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility
Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility Open
Epidemiological and genetic studies on COVID-19 are currently hindered by inconsistent and limited testing policies to confirm SARS-CoV-2 infection. Recently, it was shown that it is possible to predict COVID-19 cases using cross-sectional…
View article: Lifelines COVID-19 cohort: investigating COVID-19 infection and its health and societal impacts in a Dutch population-based cohort
Lifelines COVID-19 cohort: investigating COVID-19 infection and its health and societal impacts in a Dutch population-based cohort Open
Purpose The Lifelines COVID-19 cohort was set up to assess the psychological and societal impacts of the COVID-19 pandemic and investigate potential risk factors for COVID-19 within the Lifelines prospective population cohort. Participants…
View article: Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy Open
Congenital heart disease is the most common type of birth defect, accounting for one-third of all congenital anomalies. Using whole-exome sequencing of 2718 patients with congenital heart disease and a search in GeneMatcher, we identified …
View article: Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility
Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility Open
Epidemiological and genetic studies on COVID-19 are currently hindered by inconsistent and limited testing policies to confirm SARS-CoV-2 infection. Recently, it was shown that it is possible to predict potential COVID-19 cases using cross…
View article: The Lifelines COVID-19 Cohort: a questionnaire-based study to investigate COVID-19 infection and its health and societal impacts in a Dutch population-based cohort
The Lifelines COVID-19 Cohort: a questionnaire-based study to investigate COVID-19 infection and its health and societal impacts in a Dutch population-based cohort Open
The COVID-19 pandemic has affected billions of people around the world not only through the infection itself but also through its wider impact on public health and daily life. To assess the effects of the pandemic, a team of researchers ac…
View article: Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants Open
View article: <i>ZMYND11</i> ‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum
<i>ZMYND11</i> ‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum Open
Pathogenic variants in ZMYND11, which acts as a transcriptional repressor, have been associated with intellectual disability, behavioral abnormalities, and seizures. Only 11 affected individuals have been reported to date, and the phenotyp…
View article: De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature Open
View article: Paediatric cardiomyopathies: an evolving landscape of genetic aetiology and diagnostic applications
Paediatric cardiomyopathies: an evolving landscape of genetic aetiology and diagnostic applications Open
Cardiomyopathies are a group of disorders that often affect the ability of the heart muscle to contract, generally leading to heart failure. Although not very frequent in children (one child in every 100,000 is diagnosed with cardiomyopath…
View article: Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy
Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy Open
Background Idiopathic dilated cardiomyopathy (DCM) is recognised to be a heritable disorder, yet clinical genetic testing does not produce a diagnosis in >50% of paediatric patients. Identifying a genetic cause is crucial because this know…
View article: Biallelic Variants in <i>ASNA1</i> , Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy
Biallelic Variants in <i>ASNA1</i> , Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy Open
Background: Pediatric cardiomyopathies are a clinically and genetically heterogeneous group of heart muscle disorders associated with high morbidity and mortality. Although knowledge of the genetic basis of pediatric cardiomyopathy has imp…
View article: Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis
Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis Open
View article: Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome Open
The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.) van der Sluijs. This has now been corrected in both the PDF and HTML versions of…
View article: Novel <i>SPEG</i> mutations in congenital myopathies: Genotype–phenotype correlations
Novel <i>SPEG</i> mutations in congenital myopathies: Genotype–phenotype correlations Open
Introduction : Centronuclear myopathies (CNMs) are a subtype of congenital myopathies (CMs) characterized by muscle weakness, predominant type 1 fibers, and increased central nuclei. SPEG (striated preferentially expressed protein kinase) …
View article: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome Open
View article: Improving the diagnostic yield of exome-sequencing, by predicting gene-phenotype associations using large-scale gene expression analysis
Improving the diagnostic yield of exome-sequencing, by predicting gene-phenotype associations using large-scale gene expression analysis Open
Clinical interpretation of exome and genome sequencing data remains challenging and time consuming, with many variants with unknown effects found in genes with unknown functions. Automated prioritization of these variants can improve the s…
View article: Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy
Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy Open