Lindsay Catherine Burrage

The paper identifies domain-specific phenotypic effects of MACF1 variants outside the GAR domain, revealing broader neurodevelopmental and craniofacial anomalies.

The paper identifies biallelic KMO variants as a novel cause of congenital NAD deficiency and shows gene x environment interactions in a mouse model.

The paper identifies novel AXIN2 variants causing expanded phenotypes in humans and validates their pathogenicity using human, mouse, and fly models.

This study evaluates ultra-high-depth RNA-seq for Mendelian disorder diagnostics, showing improved detection of low-abundance transcripts and splicing variants, and introduces a resource to guide sequencing depth selection.

The paper reports seven individuals with PLCG1 variants causing hearing, vision, cardiac, and immune issues, and shows these variants have gain-of-function effects in Drosophila models.

This study identifies de novo ATP5F1A variants causing neurological disorders through dominant negative mechanisms, expanding the known phenotypic and genotypic spectrum of complex V deficiency.

The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.

Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.

The paper functionally validates a de novo PPP5C variant in a human proband using C. elegans, showing it causes loss-of-function and is likely responsible for the patient's phenotypes.

The paper identifies de novo PRKAR1B variants in six individuals with neurodevelopmental disorder, autism, apraxia, and reduced pain sensitivity.

This study identifies COPB2 haploinsufficiency as a cause of a coatopathy with osteoporosis and developmental delay, showing disrupted collagen trafficking and potential treatment with ascorbic acid.

The paper identifies de novo variants in EIF2AK1 and EIF2AK2 associated with neurodevelopmental disorders and leukoencephalopathy, showing similar pathogenic mechanisms to CACH/VWM.

The paper investigates 17p13.3 deletions between YWHAE/CRK and PAFAH1B1, identifying white matter lesions and hypermobility, and narrows the critical region to 345 kb with RTN4RL1 as a candidate gene.

This study identifies damaging variants in IRF2BPL associated with neurological phenotypes in humans and shows functional conservation in fruit flies.