Publication & Citation Trends
Publications
58 total
Lessons learned from additional research analyses of unsolved clinical exome cases PDF
Cited by 232
OpenAlex
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder PDF
Cited by 107
OpenAlex
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders PDF
Cited by 274
OpenAlex
Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes PDF
Cited by 187
OpenAlex
Research Topics
Genomics and Rare Diseases
(17)
Genomic variations and chromosomal abnormalities
(8)
Genetics and Neurodevelopmental Disorders
(7)
Acute Myeloid Leukemia Research
(6)
Genetic factors in colorectal cancer
(6)
Affiliations
University of Iowa
St. Jude Children's Research Hospital
Riyadh Armed Forces Hospital
Baylor College of Medicine
Yale University