Beatrice Oneda

The utility of chorionic villus sample cells for functionally assessing Noonan syndrome variants

Nicolina Zjacic, Gabriele Siegel, Valeria Sabatino, Martina Mocera et autres

Noonan syndrome (NS) is a congenital disorder that causes pleiotropic developmental problems of varying severity. Its main cause is gain-of-function mutations in genes of the essential Ras-mitogen-activated protein kinase (Ras/MAPK) pathway. There are currently no routine functional tests available for prenatal cases …

The utility of chorionic villus sample cells for functionally assessing noonan syndrome variants

Nicolina Zjacic, Gabriele Siegel, Valeria Sabatino, Martina Mocera et autres

Abstract Background and aims Noonan syndrome (NS) is a congenital disorder that causes pleiotropic developmental problems of varying severity. Its main cause is gain-of-function mutations in genes of the essential Ras-mitogen-activated protein kinase (Ras/MAPK) pathway. There are currently no routine functional tests …

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Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone disease.

Johannes Münch, Jana Petrovska, Joana Figueiro-Silva, Isabel Rubio-Aliaga et autres

BACKGROUNDKidney stone disease (KSD) affects approximately 10% of the population. While genetic factors are known to play a role in KSD, determining the clinical relevance of rare variants in KSD genes identified in adults remains challenging.METHODSThe Swiss Kidney Stone Cohort is a …

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Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone disease

Johannes Münch, Jana Petrovska, Joana Figueiro da Silva, Isabel Rubio-Aliaga et autres

BACKGROUND: Kidney stone disease (KSD) affects approximately 10% of the population. While genetic factors are known to play a role in KSD, determining the clinical relevance of rare variants in KSD genes identified in adults remains challenging. METHODS: The Swiss Kidney Stone …

Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone disease

Johannes Münch, Jana Petrovska, Joana Figueiro-Silva, Isabel Rubio-Aliaga et autres

BACKGROUNDKidney stone disease (KSD) affects approximately 10% of the population. While genetic factors are known to play a role in KSD, determining the clinical relevance of rare variants in KSD genes identified in adults remains challenging.METHODSThe Swiss Kidney Stone Cohort is a …

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CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines

Joana Figueiro‐Silva, Melanie Eschment, Michelle Mennel, Affef Abidi et autres

CEP290 is an important human disease gene, as mutations are implicated in a broad spectrum of autosomal recessive ciliopathies, including Leber congenital amaurosis and Joubert, Meckel, Senior-LØken or Bardet Biedl syndromes. To create isogenic mutant human induced pluripotent stem cell (hiPSC) lines …

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CRISPR/Cas9-mediated generation of two isogenic CEP290 -mutated iPSC lines

Joana Figueiro‐Silva, Melanie Eschment, Michelle Mennel, Affef Abidi et autres

Abstract CEP290 is an important human disease gene, as mutations are implicated in a broad spectrum of autosomal recessive ciliopathies, including Leber congenital amaurosis and Joubert, Meckel, Senior-LØken or Bardet Biedl syndromes. To create isogenic mutant human induced pluripotent stem cell (hiPSC) …

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ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature

Clara Houdayer, Kathleen Rooney, Liselot van der Laan, Céline Bris et autres

Rare genetic variants in ARID2 are responsible for a recently described neurodevelopmental condition called ARID2-related disorder (ARID2-RD). ARID2 belongs to PBAF, a unit of the SWI/SNF complex, which is a chromatin remodeling complex. This work aims to further delineate the phenotypic spectrum …

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Cover

Anna Grether, Ivan Ivanovski, Martina Russo, Anaïs Begemann et autres

The cover image is based on the Original Article The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies by Anna Grether et al., https://doi.org/10.1002/mgg3.2148

The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort

Paolo Zanoni, Katharina Steindl, Heinrich Sticht, Beatrice Oneda et autres

Pediatric Moyamoya Angiopathy (MMA) is a progressive intracranial occlusive arteriopathy that represents a leading cause of transient ischemic attacks and strokes in childhood. Despite this, up to now no large, exclusively pediatric MMA cohort has been subjected to systematic genetic investigation. In …

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Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons

Reza Asadollahi, Igor Delvendahl, Roman Muff, Ge Tan et autres

Pathogenic heterozygous variants in SCN2A, which encodes the neuronal sodium channel NaV1.2, cause different types of epilepsy or intellectual disability (ID)/autism without seizures. Previous studies using mouse models or heterologous systems suggest that NaV1.2 channel gain-of-function typically causes epilepsy, whereas loss-of-function leads …

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The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies

Anna Grether, Ivan Ivanovski, Martina Russo, Anaïs Begemann et autres

BACKGROUND: As the technology of next generation sequencing rapidly develops and costs are constantly reduced, the clinical availability of whole genome sequencing (WGS) increases. Thereby, it remains unclear what exact advantage WGS offers in comparison to whole exome sequencing (WES) for the …

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