Joshua L. Deignan
UCLA Health(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, BRCA gene mutations in cancer, Genetic factors in colorectal cancer, Metabolism and Genetic Disorders
Most-Cited Works
- → Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders(2014)978 cited
- → ACMG clinical laboratory standards for next-generation sequencing(2013)914 cited
- → Validation of candidate causal genes for obesity that affect shared metabolic pathways and networks(2009)281 cited
- → Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia(2014)236 cited
- → DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies(2015)153 cited
- → De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay(2015)138 cited
- → Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory(2014)135 cited
- → Patient re-contact after revision of genomic test results: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)(2018)133 cited
- → Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons(2019)88 cited
- → CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)(2020)81 cited