Publications
Fully resolved assembly of Cryptosporidium parvum. Submitted ;.
. Fully resolved assembly of Cryptosporidium parvum. Gigascience. 2022 ;11.
. Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes. Genome Med. 2021 ;13(1):55.
. Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet. 2020 ;28(9):1243-1264.
. Framework for microRNA variant annotation and prioritization using human population and disease datasets. Hum Mutat. 2019 ;40(1):73-89.
. Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample. Hum Mol Genet. 2019 ;28(7):1212-1224.
. Full disclosure: Genome assembly is still hard. PLoS Biol. 2018 ;16(4):e2005894.
. Functional Annotation of ESR1 Gene Fusions in Estrogen Receptor-Positive Breast Cancer. Cell Rep. 2018 ;24(6):1434-1444.e7.
. . Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms. Nat Genet. 2017 ;49(7):1113-1119.
. . . FLAGS: A Flexible and Adaptive Association Test for Gene Sets Using Summary Statistics. Genetics. 2016 ;202(3):919-29.
. From genomic medicine to precision medicine: highlights of 2015. Genome Med. 2016 ;8(1):12.
. Functional annotation of rare gene aberration drivers of pancreatic cancer. Nat Commun. 2016 ;7:10500.
. Factors associated with blood lead concentrations of children in Jamaica. J Environ Sci Health A Tox Hazard Subst Environ Eng. 2015 ;50(6):529-39.
. FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A. 2015 ;167A(4):831-6.
. Fine mapping the region reveals a common intronic insertion associated to HDL-C. NPJ Aging Mech Dis. 2015 ;1:15011.
. FlyVar: a database for genetic variation in Drosophila melanogaster. Database (Oxford). 2015 ;2015.
. FOXO1 is required for binding of PR on IRF4, novel transcriptional regulator of endometrial stromal decidualization. Mol Endocrinol. 2015 ;29(3):421-33.
. From genes to genomes in the clinic. Genome Med. 2015 ;7(1):78.
. Fibular aplasia, tibial campomelia, and oligosyndactyly: a further patient with a 2-year follow-up. Clin Dysmorphol. 2014 ;23(4):121-6.
. The first myriapod genome sequence reveals conservative arthropod gene content and genome organisation in the centipede Strigamia maritima. PLoS Biol. 2014 ;12(11):e1002005.
. Following-up genome-wide association study signals: lessons learned from Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 ;7(3):332-4.
. A framework for the interpretation of de novo mutation in human disease. Nat Genet. 2014 ;46(9):944-50.
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