publication venue for
- De novo C-terminal truncating mutations in MN1 cause a neurodevelopmental syndrome with distinctive facial features 2019
- Mutations in POLRMT impair mitochondrial transcription and are associated with a spectrum of mitochondrial disease presentations 2019
- A mutational chip to detect TP53, CDKN2A and FAT1 mutations in circulating cell free-DNA of head and neck squamous cell carcinoma patients:a pilot study 2019
- De novo heterozygous HSPD1 variants: A novel mechanism in hypomyelinating leukodystrophy type 4? 2019
- OTUD7A regulates neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome 2019
- Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism 2018
- Decision making factors associated with whether to receive BRCA1/2 genetic test results 2002
- The role of microsatellite instability in patients with gastric cancer: A case-control study in high-frequent area. 2002
- Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry. 31:512-520. 2023
- Widening the lens of actionability: A qualitative study of primary care providers’ views and experiences of managing secondary genomic findings. 30:595-603. 2022
- Diaspora, migration, and the sciences: a new integrated perspective. 27:509-510. 2019
- A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations. 25:744-751. 2017
- Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals. 24:968-975. 2016
- Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 23:292-301. 2015
- Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders. 23:310-316. 2015
- Meta-analysis of SNPs involved in variance heterogeneity using Levene’s test for equal variances. 22:427-430. 2014
- Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care. 22:391-395. 2014
- Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. 22:57-63. 2014
- Citizens' perspectives on personalized medicine: a qualitative public deliberation study. 21:1197-1201. 2013
- Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. 21:173-181. 2013
- Meta-analysis of genetic association studies under heterogeneity. 20:1174-1181. 2012
- Severe intellectual disability and autistic features associated with microduplication 2q23.1. 20:398-403. 2012
- Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders. 19:1082-1089. 2011
- Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. 18:278-284. 2010
- Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4). 17:1171-1181. 2009
- Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects. 9:217-225. 2001
- Maternal Uniparental Isodisomy of Human Chromosome 14 Associated with a Paternal t(13q14q) and Precocious Puberty. 4:153-159. 1996