Karen Jaqueline Low

How do clinician and parent reported data differ? An analysis of similarity and difference in the datasets from a cross-syndrome genetics cohort study(GenROC)

This paper compares parent-reported and clinician-reported phenotypic data in a cross-syndrome genetics cohort, finding differences in content and detail but similar quantities.

The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders.

The paper introduces the LMSz method to construct gene-specific growth charts for rare disorders using z-scores, showing gene-specific centiles and trends in anthropometric data.

Life beyond childhood: insight into the lived experience of 91 adults with KBG syndrome through an online patient/caregiver reported co-produced questionnaire

This study explores the lived experiences of 91 adults with KBG syndrome, revealing high rates of comorbidities and challenges in adulthood.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

This study defines the clinical spectrum and genotype-phenotype correlations of BCL11A-IDD by analyzing 75 patients with molecular and clinical data.

"They don't know how to live with a child with these conditions, they can't understand...": The lived experiences of parenting a child with a genetic neurodevelopmental disorder.

This paper explores the lived experiences of parents raising children with genetic neurodevelopmental disorders, identifying key challenges and the need for psychosocial support.

Improving the care of children with GENetic Rare disease: Observational Cohort study (GenROC): a study protocol

This study aims to collect clinical data on children with genetic syndromes to identify growth patterns and developmental profiles, guiding clinical care and diagnosis.

Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders

The paper evaluates clinical outcomes after genetic diagnosis in children with severe developmental disorders, finding that most families received condition-specific information and support.

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

The paper identifies SMC3 loss-of-function variants associated with variable growth and developmental features, including some unexpected phenotypes like bone marrow failure and leukemia.

Non-coding variants are a rare cause of recessive developmental disorders in trans with coding variants

The paper identifies non-coding variants in trans with coding variants in patients with developmental disorders, finding them to be a rare cause of recessive disorders.

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

This study identifies ANKRD11 missense variants as a cause of KBG syndrome by impairing protein stability or transcriptional activity, supporting haploinsufficiency as the underlying mechanism.

The contribution of X-linked coding variation to severe developmental disorders

The paper analyzes X-linked coding variation in developmental disorders, finding similar rates in males and females and estimating pathogenicity of inherited variants.