Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genetic and Kidney Cyst Diseases, Genetic Syndromes and Imprinting, Hedgehog Signaling Pathway Studies, and Renal and related cancers.
Polygenic risk score portability for common diseases across genetically diverse populations
A cross-disorder dosage sensitivity map of the human genome
Validating and automating learning of cardiometabolic polygenic risk scores from direct-to-consumer genetic and phenotypic data: implications for scaling precision health research
Biallelic variants in <i>LIG3</i> cause a novel mitochondrial neurogastrointestinal encephalomyopathy
Regulation of autism-relevant behaviors by cerebellar–prefrontal cortical circuits
A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy
PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy.
PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia.
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
Genetic variation across the human olfactory receptor repertoire alters odor perception
Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features
Analysis of single nucleotide variants in CRISPR-Cas9 edited zebrafish embryos shows no evidence of off-target inflation
Leveraging biobank-scale rare and common variant analyses to identify <i>ASPHD1</i> as the main driver of reproductive traits in the 16p11.2 locus
Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Gene expression elucidates functional impact of polygenic risk for schizophrenia