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Nasal Nitric Oxide in Primary Immunodeficiency and Primary Ciliary Dyskinesia: Helping to Distinguish Between Clinically Similar Diseases. J Clin Immunol 39, 216-224 (2019).
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).
Chimeric transcripts resulting from complex duplications in chromosome Xq28. Hum Genet 135, 253-6 (2016).
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye. Hum Mol Genet 26, 2207-2217 (2017).
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain 140, 940-952 (2017).
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function. Brain 143, 1114-1126 (2020).
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).
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). J Med Genet 58, 41-47 (2021).
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum Mutat 39, 152-166 (2018).
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. Hum Mol Genet 25, 4012-4020 (2016).
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science 370, (2020).
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).
Non-coding genetic variants in human disease. Hum Mol Genet 24, R102-10 (2015).
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A (2020). doi:10.1002/ajmg.a.61908
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).
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med 22, 1338-1347 (2020).
EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease. Trends Mol Med 25, 265-286 (2019).
Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol 19, 908-918 (2020).
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. Am J Hum Genet 104, 246-259 (2019).
Parliament2: Accurate structural variant calling at scale. Gigascience 9, (2020).
PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive. Ann Neurol 80, 59-70 (2016).
De novo mutations in histone-modifying genes in congenital heart disease. Nature 498, 220-3 (2013).