Dorota Monies
King Faisal Specialist Hospital & Research Centre(SA)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetic and Kidney Cyst Diseases, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families(2014)467 cited
- → New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism(2012)318 cited
- → The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes(2017)300 cited
- → Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population(2019)279 cited
- → Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield(2016)257 cited
- → Expanding the genetic heterogeneity of intellectual disability(2017)176 cited
- → Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes(2013)174 cited
- → Characterizing the morbid genome of ciliopathies(2016)162 cited
- → Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis(2014)138 cited
- → Autozygome and high throughput confirmation of disease genes candidacy(2018)116 cited