Publications
] Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet 136, 377-386 (2017).
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med 22, 1338-1347 (2020).
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A (2020). doi:10.1002/ajmg.a.61908
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science 370, (2020).
Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders. Hum Mol Genet 26, 1927-1941 (2017).
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). J Med Genet 58, 41-47 (2021).
A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis. Sci Rep 7, 41803 (2017).
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function. Brain 143, 1114-1126 (2020).
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain 140, 940-952 (2017).
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye. Hum Mol Genet 26, 2207-2217 (2017).
Chimeric transcripts resulting from complex duplications in chromosome Xq28. Hum Genet 135, 253-6 (2016).
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. Eur J Hum Genet 27, 747-759 (2019).
Nasal Nitric Oxide in Primary Immunodeficiency and Primary Ciliary Dyskinesia: Helping to Distinguish Between Clinically Similar Diseases. J Clin Immunol 39, 216-224 (2019).
