Publications
Temporal development of the gut microbiome in early childhood from the TEDDY study. Nature. 2018 ;562(7728):583-588.
. Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ Genom Med. 2024 ;9(1):18.
. Alu Insertion Polymorphisms as Evidence for Population Structure in Baboons. Genome Biol Evol. 2017 ;9(9):2418-2427.
. High-precision, whole-genome sequencing of laboratory strains facilitates genetic studies. PLoS Genet. 2008 ;4(8):e1000139.
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SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research. Neuron. 2018 ;97(3):488-493.
Author Correction: Duplication of a domestication locus neutralized a cryptic variant that caused a breeding barrier in tomato. Nat Plants. 2019 ;5(8):903.
. Duplication of a domestication locus neutralized a cryptic variant that caused a breeding barrier in tomato. Nat Plants. 2019 ;5(5):471-479.
. A potential founder variant in in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction. Mol Genet Genomic Med. 2016 ;4(6):604-616.
. HSPA6 and its role in cancers and other diseases. Mol Biol Rep. 2022 ;49(11):10565-10577.
. Association of Single Nucleotide Polymorphisms in the ST3GAL4 Gene with VWF Antigen and Factor VIII Activity. PLoS One. 2016 ;11(9):e0160757.
. Predicting human genes susceptible to genomic instability associated with /-mediated rearrangements. Genome Res. 2018 ;28(8):1228-1242.
. The genome of Apis mellifera: dialog between linkage mapping and sequence assembly. Genome Biol. 2007 ;8(3):403.
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Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. Genet Med. 2016 ;18(10):1044-51.
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Shedding genomic light on Aristotle's lantern. Dev Biol. 2006 ;300(1):2-8.
. Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 ;.
. Teaser: Individualized benchmarking and optimization of read mapping results for NGS data. Genome Biol. 2015 ;16:235.
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Multiplexed Simian Immunodeficiency Virus-Specific Paired RNA-Guided Cas9 Nickases Inactivate Proviral DNA. J Virol. 2021 ;95(23):e0088221.
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Patient and Clinician Perceptions of Precision Cardiology Care: Findings From the HeartCare Study. Circ Genom Precis Med. 2022 ;15(6):e003605.
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