Publication & Citation Trends
Publications
0 total
Idiopathic cholestasis in adults: Genetics as another lens for liver pathologists.
Cited by 0
Semantic Scholar
Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Cited by 8
Semantic Scholar
One is the loneliest number: genotypic matchmaking using the electronic health record OA
Cited by 7
Semantic Scholar
Genomic Medicine Year in Review: 2020. OA
Cited by 8
Semantic Scholar
Improving reporting standards for polygenic scores in risk prediction studies OA
Cited by 349
Semantic Scholar
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. OA
Cited by 28
Semantic Scholar
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. OA
Cited by 43
Semantic Scholar
Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy. OA
Cited by 8
Semantic Scholar
Genomic Medicine Year in Review: 2019. OA
Cited by 12
Semantic Scholar
Research Topics
Genomics and Rare Diseases
(9)
BRCA gene mutations in cancer
(5)
Genetics and Neurodevelopmental Disorders
(4)
Genomic variations and chromosomal abnormalities
(3)
Genetic Associations and Epidemiology
(2)
Affiliations
University of Maryland, Baltimore
National Institutes of Health
Duke University
Charles University
Leiden University Medical Center