Publications
Divergent BRAF Inhibitor Resistance Mechanisms Revealed through Epigenetic Mapping. J Invest Dermatol. 2023 ;143(5):842-853.e6.
. De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. Am J Med Genet A. 2022 ;188(8):2360-2366.
. De novo Mutations in Domestic Cat are Consistent with an Effect of Reproductive Longevity on Both the Rate and Spectrum of Mutations. Mol Biol Evol. 2022 ;39(7).
. De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila. Hum Mol Genet. 2022 ;31(19):3231-3244.
. Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability. HGG Adv. 2022 ;3(4):100132.
. Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants. Nat Genet. 2022 ;54(12):1803-1815.
. Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome. Cancer Genet. 2022 ;262-263:53-56.
. DNA methylation signature of chronic low-grade inflammation and its role in cardio-respiratory diseases. Nat Commun. 2022 ;13(1):2408.
. De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities. NPJ Genom Med. 2021 ;6(1):104.
. Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. Ann Clin Transl Neurol. 2021 ;8(10):2052-2058.
. Deforming Polyarthritis in a North Indian Family-Clinical Expansion of STING-Associated Vasculopathy with Onset in Infancy (SAVI). J Clin Immunol. 2021 ;41(1):209-211.
. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021 ;23(11):2122-2137.
. Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. Nat Commun. 2021 ;12(1):3505.
. Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). J Med Genet. 2021 ;58(1):41-47.
. . DNA methylation patterns identify subgroups of pancreatic neuroendocrine tumors with clinical association. Commun Biol. 2021 ;4(1):155.
. Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform. Parkinsonism Relat Disord. 2021 ;82:84-86.
. Drivers of transcriptional variance in human intestinal epithelial organoids. Physiol Genomics. 2021 ;53(11):486-508.
. . Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Brain. 2020 ;143(1):112-130.
. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat. 2020 ;41(2):487-501.
. A diploid assembly-based benchmark for variants in the major histocompatibility complex. Nat Commun. 2020 ;11(1):4794.
. Discovery and population genomics of structural variation in a songbird genus. Nat Commun. 2020 ;11(1):3403.
. Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals. Nat Genet. 2020 ;52(12):1314-1332.
. Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID. J Clin Invest. 2020 ;130(8):4411-4422.
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