Carrie A. Lahner
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View article: MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway Open
View article: <i>MARK2</i>variants cause autism spectrum disorder<i>via</i>the downregulation of WNT/β-catenin signaling pathway
<i>MARK2</i>variants cause autism spectrum disorder<i>via</i>the downregulation of WNT/β-catenin signaling pathway Open
MARK2 , a member of the evolutionarily conserved PAR1/MARK serine/threonine kinase family, has been identified as a novel risk gene for autism spectrum disorder (ASD) based on the enrichment of de novo loss-of-function (Lof) variants in la…
View article: Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea Open
Sleep apnea is a common disorder that represents a global public health burden. KCNK3 encodes TASK-1, a K + channel implicated in the control of breathing, but its link with sleep apnea remains poorly understood. Here we describe a new dev…
View article: Defective X-gating caused by<i>de novo</i>gain-of-function mutations in<i>KCNK3</i>underlies a developmental disorder with sleep apnea
Defective X-gating caused by<i>de novo</i>gain-of-function mutations in<i>KCNK3</i>underlies a developmental disorder with sleep apnea Open
Sleep apnea is a common disorder that represents a global public health burden. KCNK3 encodes TASK-1, a K + channel implicated in the control of breathing, but its link with sleep apnea remains poorly understood. Here we describe a novel d…
View article: Impact of integrated translational research on clinical exome sequencing
Impact of integrated translational research on clinical exome sequencing Open
View article: Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in <i>ACO2</i>
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in <i>ACO2</i> Open
Objective We describe the clinical characteristics and genetic etiology of several new cases within the ACO2‐related disease spectrum. Mitochondrial aconitase (ACO2) is a nuclear‐encoded tricarboxylic acid cycle enzyme. Homozygous pathogen…