Area of research
Genetics · Molecular Biology
Research interest
Research focused on Exome sequencing and Phenotype, with related work in Enhancer, Computational biology, Genetics. Notable publications include 'Enhancers: five essential questions', 'Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts', and 'Emergent high fatality lung disease in systemic juvenile arthritis'.
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
Beyond the exome: What’s next in diagnostic testing for Mendelian conditions
Bi-allelic variants in INTS11 are associated with a complex neurological disorder
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
Whole-genome Comparisons Identify Repeated Regulatory Changes Underlying Convergent Appendage Evolution in Diverse Fish Lineages
WhichTF is functionally important in your open chromatin data?
The microRNA processor<i>DROSHA</i>is a candidate gene for a severe progressive neurological disorder
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
Emergent high fatality lung disease in systemic juvenile arthritis
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis
Enhancers: five essential questions
Evolutionary Biology for the 21st Century
A Penile Spine/Vibrissa Enhancer Sequence Is Missing in Modern and Extinct Humans but Is Retained in Multiple Primates with Penile Spines and Sensory Vibrissae
A “Forward Genomics” Approach Links Genotype to Phenotype using Independent Phenotypic Losses among Related Species
Human Developmental Enhancers Conserved between Deuterostomes and Protostomes