Publications
Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21. Genomics. 1993 ;16(2):407-16.
. Identification of new members of a carbohydrate kinase-encoding gene family. J Comput Biol. 1995 ;2(3):451-8.
. . BEAUTY-X: enhanced BLAST searches for DNA queries. Bioinformatics. 1998 ;14(10):890-1.
. Transcriptomic analysis supports similar functional roles for the two thymuses of the tammar wallaby. BMC Genomics. 2011 ;12:420.
. Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy. Am J Hum Genet. 2021 ;108(7):1301-1317.
. Clonal haematopoiesis and risk of chronic liver disease. Nature. 2023 ;616(7958):747-754.
. Author Correction: Clonal haematopoiesis and risk of chronic liver disease. Nature. 2023 ;619(7970):E47.
. Beyond the exome: What's next in diagnostic testing for Mendelian conditions. Am J Hum Genet. 2023 ;110(8):1229-1248.
. . PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data. Orphanet J Rare Dis. 2021 ;16(1):365.
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TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet. 2013 ;93(2):197-210.
. Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet. 2018 ;26(8):1121-1131.
. Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient. Hum Mol Genet. 1992 ;1(8):645-6.
. Characterization of transcriptomes from sexual and asexual lineages of a New Zealand snail (Potamopyrgus antipodarum). Mol Ecol Resour. 2013 ;13(2):289-94.
. Genetic variation in baboon craniofacial sexual dimorphism. Evolution. 2009 ;63(3):799-806.
. Comparison of Mandibular Phenotypic and Genetic Integration between Baboon and Mouse. Evol Biol. 2009 ;36(1):19-36.
. Association of the IGF1 gene with fasting insulin levels. Eur J Hum Genet. 2016 ;24(9):1337-43.
. Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome. Am J Med Genet A. 2020 ;182(12):2919-2925.
. DNA methylation signature of chronic low-grade inflammation and its role in cardio-respiratory diseases. Nat Commun. 2022 ;13(1):2408.
. Genomes of Diptera. Curr Opin Insect Sci. 2018 ;25:116-124.
. Therapy-related Acute Leukemia With Mixed Phenotype and Novel t(1: 6)(q25;p23) After Treatment for High-risk Neuroblastoma. J Pediatr Hematol Oncol. 2017 ;39(8):e486-e488.
. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 ;102(1):27-43.
. DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet. 2015 ;96(4):612-22.
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