Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia. Nat Commun 12, 2282 (2021).
8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer. Nat Commun 11, 1523 (2020).
Expanding the phenotypic spectrum in RDH12-associated retinal disease. Cold Spring Harb Mol Case Stud 6, (2020).
Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease. BMC Med Genomics 13, 120 (2020).
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science 370, (2020).
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. Hum Genet 138, 1105-1115 (2019).
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell 172, 897-909.e21 (2018).
STRetch: detecting and discovering pathogenic short tandem repeat expansions. Genome Biol 19, 121 (2018).
Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation. Hum Mutat 37, 160-4 (2016).
Novel genetic causes for cerebral visual impairment. Eur J Hum Genet 24, 660-5 (2016).
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. Am J Hum Genet 99, 1005-1014 (2016).
Challenges and solutions for gene identification in the presence of familial locus heterogeneity. Eur J Hum Genet 23, 1207-15 (2015).
Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus. Am J Med Genet A 167A, 2975-84 (2015).
Expanding the Molecular and Clinical Phenotype of SSR4-CDG. Hum Mutat 36, 1048-51 (2015).
A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1). Am J Med Genet A 167A, 2470-3 (2015).
DIAMUND: direct comparison of genomes to detect mutations. Hum Mutat 35, 283-8 (2014).
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. Am J Hum Genet 94, 144-52 (2014).