Ruth Falb
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View article: A Novel Missense Variant in Ultrarare SLC35A1‐CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers
A Novel Missense Variant in Ultrarare SLC35A1‐CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers Open
SLC35A1‐CDG is a very rare type of congenital disorders of glycosylation (CDG) with only five cases known to date. Here, we review the literature and present new data from a sixth patient carrying the uncharacterized variant c.133A>G; p.Th…
View article: ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations Open
Neurodevelopmental disorders are major indications for genetic referral and have been linked to more than 1500 loci including genes encoding transcriptional regulators. The dysfunction of transcription factors often results in characterist…
View article: Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases Open
Purpose Genome sequencing (GS) is expected to reduce the diagnostic gap in rare disease genetics. We aimed to evaluate a scalable framework for genome-based analyses ‘beyond the exome’ in regular care of patients with inherited retinal deg…
View article: A single center experience of prenatal parent‐fetus trio exome sequencing for pregnancies with congenital anomalies
A single center experience of prenatal parent‐fetus trio exome sequencing for pregnancies with congenital anomalies Open
Objectives To examine the diagnostic yield of trio exome sequencing in fetuses with multiple structural defects with no pathogenic findings in cytogenetic and microarray analyses. Methods We recruited 51 fetuses with two or more defects, n…
View article: Bi-allelic loss-of-function variants in <i>KIF21A</i> cause severe fetal akinesia with arthrogryposis multiplex
Bi-allelic loss-of-function variants in <i>KIF21A</i> cause severe fetal akinesia with arthrogryposis multiplex Open
Background Fetal akinesia (FA) results in variable clinical presentations and has been associated with more than 166 different disease loci. However, the underlying molecular cause remains unclear in many individuals. We aimed to further d…
View article: Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes Open
Background Human coenzyme Q4 (COQ4) is essential for coenzyme Q 10 (CoQ 10 ) biosynthesis. Pathogenic variants in COQ4 cause childhood-onset neurodegeneration. We aimed to delineate the clinical spectrum and the cellular consequences of CO…
View article: <i>De novo</i> missense variants in FBXO11 alter its protein expression and subcellular localization
<i>De novo</i> missense variants in FBXO11 alter its protein expression and subcellular localization Open
Recently, others and we identified de novo FBXO11 (F-Box only protein 11) variants as causative for a variable neurodevelopmental disorder (NDD). We now assembled clinical and mutational information on 23 additional individuals. The phenot…
View article: The Impact of an Audience Response System on a summative Assessment, a controlled Field Study
The Impact of an Audience Response System on a summative Assessment, a controlled Field Study Open
Background: Audience response systems allow to activate the audience and to receive a direct feedback of participants during lectures. Modern systems do not require any proprietary hardware anymore. Students can directly respond on their s…
View article: The Impact of an Audience Response System on a Summative Assessment, a Controlled Field Study
The Impact of an Audience Response System on a Summative Assessment, a Controlled Field Study Open
Background: Audience response systems allow to activate the audience and to receive a direct feedback of participants during lectures. Modern systems do not require any proprietary hardware anymore. Students can directly respond on their s…