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| 37181851 | svCapture: efficient and specific detection of very low frequency structural variant junctions by error-minimized capture sequencing. | NAR Genom Bioinform | 2023 |
| 37181851 | svCapture: efficient and specific detection of very low frequency structural variant junctions by error-minimized capture sequencing. | NAR Genom Bioinform | 2023 |
| 34181717 | Locus-specific transcription silencing at the FHIT gene suppresses replication stress-induced copy number variant formation and associated replication delay. | Nucleic Acids Res | 2021 |
| 34181717 | Locus-specific transcription silencing at the FHIT gene suppresses replication stress-induced copy number variant formation and associated replication delay. | Nucleic Acids Res | 2021 |
| 32665662 | Twin peaks: finding fragile sites with MiDAS-seq. | Cell Res | 2020 |
| 32665662 | Twin peaks: finding fragile sites with MiDAS-seq. | Cell Res | 2020 |
| 30450527 | Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. | Hum Genet | 2018 |
| 30218578 | Effects of hydroxyurea on CNV induction in the mouse germline. | Environ Mol Mutagen | 2018 |
| 30450527 | Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. | Hum Genet | 2018 |
| 30218578 | Effects of hydroxyurea on CNV induction in the mouse germline. | Environ Mol Mutagen | 2018 |
| 27518780 | Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency. | JIMD Rep | 2017 |
| 28740117 | Fragile sites in cancer: more than meets the eye. | Nat Rev Cancer | 2017 |
| 28236344 | Integration of high-risk human papillomavirus into cellular cancer-related genes in head and neck cancer cell lines. | Head Neck | 2017 |
| 27518780 | Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency. | JIMD Rep | 2017 |
| 27920058 | A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome. | J Med Genet | 2017 |
| 28236344 | Integration of high-risk human papillomavirus into cellular cancer-related genes in head and neck cancer cell lines. | Head Neck | 2017 |
| 28740117 | Fragile sites in cancer: more than meets the eye. | Nat Rev Cancer | 2017 |
| 27920058 | A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome. | J Med Genet | 2017 |
| 27007850 | Molecular biology: Breaks in the brain. | Nature | 2016 |
| 27007850 | Molecular biology: Breaks in the brain. | Nature | 2016 |
| 25373142 | Large transcription units unify copy number variants and common fragile sites arising under replication stress. | Genome Res | 2015 |
| 25373142 | Large transcription units unify copy number variants and common fragile sites arising under replication stress. | Genome Res | 2015 |
| 26185636 | Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay. | Clin Case Rep | 2015 |
| 26185636 | Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay. | Clin Case Rep | 2015 |
| 24327335 | Copy number variants are produced in response to low-dose ionizing radiation in cultured cells. | Environ Mol Mutagen | 2014 |
| 24327335 | Copy number variants are produced in response to low-dose ionizing radiation in cultured cells. | Environ Mol Mutagen | 2014 |
| 24813807 | Analysis of the t(3;8) of hereditary renal cell carcinoma: a palindrome-mediated translocation. | Cancer Genet | 2014 |
| 24813807 | Analysis of the t(3;8) of hereditary renal cell carcinoma: a palindrome-mediated translocation. | Cancer Genet | 2014 |
| 22935230 | Harnessing genomics to identify environmental determinants of heritable disease. | Mutat Res | 2013 |
| 22935230 | Harnessing genomics to identify environmental determinants of heritable disease. | Mutat Res | 2013 |
| 23824832 | 9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism. | Am J Med Genet A | 2013 |
| 23863462 | The SNM1B/APOLLO DNA nuclease functions in resolution of replication stress and maintenance of common fragile site stability. | Hum Mol Genet | 2013 |
| 23410970 | Breaking news on fragile sites in cancer. | Cancer Cell | 2013 |
| 23824832 | 9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism. | Am J Med Genet A | 2013 |
| 23863462 | The SNM1B/APOLLO DNA nuclease functions in resolution of replication stress and maintenance of common fragile site stability. | Hum Mol Genet | 2013 |
| 23410970 | Breaking news on fragile sites in cancer. | Cancer Cell | 2013 |
| 21926160 | REV1 and polymerase ζ facilitate homologous recombination repair. | Nucleic Acids Res | 2012 |
| 22375031 | Activation of GATA binding protein 6 (GATA6) sustains oncogenic lineage-survival in esophageal adenocarcinoma. | Proc Natl Acad Sci U S A | 2012 |
| 22903861 | Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings. | Am J Med Genet A | 2012 |
| 22365495 | Replication stress and mechanisms of CNV formation. | Curr Opin Genet Dev | 2012 |
| 22407726 | Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation. | Am J Med Genet A | 2012 |
| 23028374 | De novo CNV formation in mouse embryonic stem cells occurs in the absence of Xrcc4-dependent nonhomologous end joining. | PLoS Genet | 2012 |
| 21926160 | REV1 and polymerase ζ facilitate homologous recombination repair. | Nucleic Acids Res | 2012 |
| 23028374 | De novo CNV formation in mouse embryonic stem cells occurs in the absence of Xrcc4-dependent nonhomologous end joining. | PLoS Genet | 2012 |
| 22903861 | Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings. | Am J Med Genet A | 2012 |
| 22365495 | Replication stress and mechanisms of CNV formation. | Curr Opin Genet Dev | 2012 |
| 22407726 | Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation. | Am J Med Genet A | 2012 |
| 22375031 | Activation of GATA binding protein 6 (GATA6) sustains oncogenic lineage-survival in esophageal adenocarcinoma. | Proc Natl Acad Sci U S A | 2012 |
| 21212237 | Comparison of constitutional and replication stress-induced genome structural variation by SNP array and mate-pair sequencing. | Genetics | 2011 |
| 21212237 | Comparison of constitutional and replication stress-induced genome structural variation by SNP array and mate-pair sequencing. | Genetics | 2011 |