Share This Author
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Characterizing the morbid genome of ciliopathies
The morbid genome of ciliopathies encompasses many founder mutations, the combined carrier frequency of which accounts for a high disease burden in the study population and provides the strongest evidence, to date, in support of the classical Mendelian inheritance of Bardet-Biedl syndrome.
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
- Bo Yuan, D. Pehlivan, J. Lupski
- Biology, MedicineThe Journal of clinical investigation
- 2 February 2015
The data, along with recent transcriptome studies, suggest that CdLS and related phenotypes may be "transcriptomopathies rather than cohesinopathies", and homozygous mutations in TAF6, which encodes a core transcriptional regulatory pathway component are identified.
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies
This study expands the clinical and allelic spectrum of known RD genes, and reveals AGBL5, CDH16, and DNAJC17 as novel disease candidates.
Genomic copy number variation in Mus musculus
The analysis is a comprehensive, genome-wide analysis of CNVs in Mus musculus, which increases the number of known variants in the species and will accelerate the identification of novel variants in future studies.
Autozygome and high throughput confirmation of disease genes candidacy
The utility of the autozygome for the high throughput confirmation of previously published tentative links to diseases and the timely relabeling of these candidate disease genes in relevant databases to improve the yield of clinical genomic sequencing is highlighted.
Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.
The genetic landscape of familial congenital hydrocephalus
This study aimed to determine the genetic etiology of familial congenital hydrocephalus with the assumption that these cases represent Mendelian forms of the disease.
Expanding the genetic heterogeneity of intellectual disability
This study describes the phenotypic and genetic findings of 68 families all with novel ID-related variants and demonstrates the power of positional mapping to reveal unusual mutational mechanisms.
Low‐dose azathioprine or mercaptopurine in combination with allopurinol can bypass many adverse drug reactions in patients with inflammatory bowel disease
- A. Ansari, N. Patel, J. Sanderson, J. O'donohue, J. Duley, T. Florin
- MedicineAlimentary pharmacology & therapeutics
- 1 March 2010
Aliment Pharmacol Ther 31, 640–647