Publication & Citation Trends
Most Cited Works
Publications
132 total
P369: Clinical genome sequencing in the neurodevelopmental clinic: A single center experience OA
Cited by 0
Semantic Scholar
A machine learning decision support tool optimizes WGS utilization in a neonatal intensive care unit OA
Cited by 1
Semantic Scholar
MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission
Cited by 0
Semantic Scholar
Long-Read Genome Sequencing in Clinical Psychiatry: RFX3 Haploinsufficiency in a Hospitalized Adolescent With Autism, Intellectual Disability, and Behavioral Decompensation.
Cited by 4
Semantic Scholar
Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes.
Cited by 3
Semantic Scholar
Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.
Cited by 6
Semantic Scholar
P347: RareResolve: Gene-humanized animal models for resolving pathogenicity in variants of uncertain significance (VUS) OA
Cited by 0
Semantic Scholar
Research Topics
Genomics and Rare Diseases
(32)
Genetic factors in colorectal cancer
(15)
Genetics and Neurodevelopmental Disorders
(15)
Genomic variations and chromosomal abnormalities
(14)
Cancer Genomics and Diagnostics
(14)
Frequent Co-Authors
Affiliations
BGI Group (China)
Boston College
Human Genome Sciences (United States)
University of Southern California
University of Copenhagen