selected scholarly activity
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chapters
- Epigenetics. 1-31. 2013
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conferences
- A SPECIFIC DNA METHYLATION (DNAm) SIGNATURE ASSOCIATED WITH NSD1(+/-) MUTATIONS IN SOTOS SYNDROME. American Journal of Medical Genetics, Part A. 1739-1740. 2015
- WNT2 Promoter Methylation Regulates WNT2 Expression in Placenta: A Role in Fetal Growth Restriction?. Reproductive Sciences. 217A-218A. 2010
- Characterization of the platypus and echidna sex chromosome system. Chromosome Research. 92-92. 2007
- MOLECULAR AND PHARMACOLOGICAL CHARACTERISATION OF THE MSH-R ALLELES IN SWISS CATTLE BREEDS. Journal of Receptor and Signal Transduction Research. 421-430. 2002
- Polymorphism in the MSHR gene of different cattle breeds. Veterinarni Medicina. 290-295. 2000
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journal articles
- Consensus Recommendations to Optimize the Detection and Reporting of NTRK Gene Fusions by RNA-Based Next-Generation Sequencing. Current Oncology. 30:3989-3997. 2023
- CANTRK. Journal of Molecular Diagnostics. 25:168-174. 2023
- Evaluation of DNA Methylation Array for Glioma Tumor Profiling and Description of a Novel Epi-Signature to Distinguish IDH1/IDH2 Mutant and Wild-Type Tumors. Genes. 13:2075-2075. 2022
- Practice guidelines for BRCA1/2 tumour testing in ovarian cancer. Journal of Medical Genetics. 59:727-736. 2022
- DNA Methylation of the Oxytocin Receptor Across Neurodevelopmental Disorders. Journal of Autism and Developmental Disorders. 51:3610-3623. 2021
- A Pan-Canadian Validation Study for the Detection of EGFR T790M Mutation Using Circulating Tumor DNA From Peripheral Blood. JTO Clinical and Research Reports. 2:100212-100212. 2021
- Multisite verification of the accuracy of a multi-gene next generation sequencing panel for detection of mutations and copy number alterations in solid tumours. PLoS ONE. 16:e0258188-e0258188. 2021
- ATM whole gene deletion in an Italian family with hereditary pancreatic cancer: Challenges to cancer risk prediction associated with an 11q22.3 microdeletion. Cancer genetics. 240:1-4. 2020
- EHMT1 pathogenic variants and 9q34.3 microdeletions share altered DNA methylation patterns in patients with Kleefstra syndrome. Journal of Translational Genetics and Genomics. 4:144-158. 2020
- CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions. American Journal of Human Genetics. 100:773-788. 2017
- An Update on Molecular Diagnostic Testing of Human Imprinting Disorders. Journal of Pediatric Genetics. 06:003-017. 2017
- Genome-Wide DNA Methylation Analysis of Chinese Patients with Systemic Lupus Erythematosus Identified Hypomethylation in Genes Related to the Type I Interferon Pathway. PLoS ONE. 12:e0169553-e0169553. 2017
- NSD1 mutations generate a genome-wide DNA methylation signature. Nature Communications. 6:10207. 2015
- A CGG-Repeat Expansion Mutation inZNF713Causes FRA7A: Association with Autistic Spectrum Disorder in two Families. Human Mutation. 35:n/a-n/a. 2014
- Comparative chromosome painting of pronghorn (Antilocapra americana) and saola (Pseudoryx nghetinhensis) karyotypes with human and dromedary camel probes. BMC Genetics. 15:68-68. 2014
- Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C. BMC Medical Genetics. 6:1. 2013
- Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray. Epigenetics. 8:203-209. 2013
- The health risks of ART. EMBO Reports. 14:129-135. 2013
- Cross-Reactive DNA Microarray Probes Lead to False Discovery of Autosomal Sex-Associated DNA Methylation. American Journal of Human Genetics. 91:762-764. 2012
- Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder. European Journal of Medical Genetics. 54:e516-e520. 2011
- Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation. Human Molecular Genetics. 20:2103-2115. 2011
- WNT2promoter methylation in human placenta is associated with low birthweight percentile in the neonate. Epigenetics. 6:440-449. 2011
- Assessment of methylation level prediction accuracy in methyl-DNA immunoprecipitation and sodium bisulfite based microarray platforms. Epigenetics. 6:410-415. 2011
- Sequence overlap between autosomal and sex-linked probes on the Illumina HumanMethylation27 microarray. Genomics. 97:214-222. 2011
- A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes. Genome Research. 21:465-476. 2011
- Autism Spectrum Disorders and Epigenetics. Journal of the American Academy of Child and Adolescent Psychiatry. 49:794-809. 2010
- EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines. Genomics. 95:73-83. 2010
- Search for the sex-determining switch in monotremes: Mapping WT1, SF1, LHX1, LHX2, FGF9, WNT4, RSPO1 and GATA4 in platypus. Chromosome Research. 15:777-785. 2007
- Analysis of Y chromosome rearrangements between B-taurus and B-indicus. Thai Journal of Veterinary Medicine. 37:45-49. 2007
- The multiple sex chromosomes of platypus and echidna are not completely identical and several share homology with the avian Z. Genome Biology. 8:R243-R243. 2007
- Expression and function of agouti signaling protein in cattle. Animal Science Journal. 77:33-41. 2006
- The proto-oncogene C-KIT maps to canid B-chromosomes. Chromosome Research. 13:113-122. 2005
- Cytogenetic comparison of saola <i>(Pseudoryx nghetinhensis)</i> and cattle <i>(Bos taurus)</i> using G- and Q-banding and FISH. Cytogenetic and Genome Research. 111:147-151. 2005
- Validating bovine sexed semen samples using quantitative PCR. Journal of Animal Breeding and Genetics. 121:209-215. 2004
- Assignment of bovine trophinin (TRO) to the q arm of the X chromosome by fluorescence in situ hybridization. Animal Genetics. 35:157-158. 2004
- Expression of XIST sense and antisense in bovine fetal organs and cell cultures. Chromosome Research. 12:275-283. 2004
- Expression pattern of X-linked genes in sex chromosome aneuploid bovine cells. Chromosome Research. 12:263-273. 2004
- Germ Cell Transplantation in an Azoospermic Klinefelter Bull1. Biology of Reproduction. 69:1940-1944. 2003
- Assignment of the bovine attractin (ATRN) gene to chromosome 13q21→q22 by in situ hybridization. Cytogenetic and Genome Research. 103:204K-204K. 2003