Kirsten Ann Donald

The paper evaluates incomplete penetrance in 4,325 rare disease families, finding 1.6% of diagnosed cases involve inherited variants from unaffected parents and showing divergent transcriptional effects in CHD8-related cases.

This study develops a deep learning model to enhance ultra-low-field MRI scans to near high-field resolution without paired high-field data, improving image quality and accessibility.

Across 15 cohorts (birth to 24 years), 20 epigenetic clocks and eight brain age models predicted chronological age modestly, stabilizing by middle childhood; their age residuals were weakly associated.

This study examines cytokine profiles in HIV-exposed and unexposed children and their mothers, finding persistent immune alterations in HEU children linked to maternal HIV.

The paper links infant gut microbiome composition and behavioral responses to maternal unpredictability, showing how microbial metabolism influences behavioral outcomes.

The paper presents genetic and phenotypic data from 521 children with neurodevelopmental disorders in Kenya and South Africa, highlighting high genetic diagnosis rates linked to environmental risk factors.

This study examines neuroimmune changes in HIV-exposed uninfected children and links them to language development using a South African cohort.

The paper introduces dGAMLSS, a distributed algorithm for fitting GAMLSS models to construct population reference charts without sharing patient data.

The paper examines associations between maternal and child immune profiles and neurometabolite measures of neuroinflammation in HIV-exposed uninfected and HIV-unexposed children.

This study identifies two ASD subgroups with distinct brain morphology using cross-cultural datasets, highlighting key brain regions associated with subgroup characteristics and autistic traits.

The paper creates longitudinal normative growth curves of visual cortex function using VEP data from infants in three countries, showing generalizability across contexts and associations with early environmental factors.

The paper develops a model to estimate infant gut microbiome age using metagenomic data, finding conserved microbial succession patterns across diverse human populations.

This study examines EEG microstate dynamics in infants over two years, showing conserved network configurations and developmental changes in microstate transitions across diverse cohorts.

This paper develops a deep learning model to enhance ultra-low-field MRI scans for pediatric neurodevelopmental research, achieving better reconstruction of brain structures than existing methods.

The paper tests two high-density EEG sensor net designs in infants with curly or tightly-coiled hair, finding that the tall design improves data quality and retention.

The paper detects and classifies copy number variants in exome data from 6,633 families, identifying causal CNVs in 173 families and improving classification standards.

The paper presents phenotype and genetic analysis of 206 children with neurodevelopmental disorders from Kenya and South Africa, identifying pathogenic variants in 17% of South African and 38% of Kenyan cases.

The paper introduces brain charts as a standardized resource for benchmarking brain morphology across the human lifespan using MRI data from a large and diverse cohort.

This study identifies de novo coding variants in the AGO1 gene as a cause of a novel monogenic neurodevelopmental disorder with intellectual disability and associated behavioral features.

The paper identifies gene expression signatures in cord blood linked to maternal psychological distress and adverse childhood outcomes, revealing molecular pathways associated with neurodevelopmental disorders.