Deborah A. Nickerson
0000-0002-9954-4897
Publication & Citation Trends
Publications
0 total
LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants OA
Cited by 0
Semantic Scholar
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.
Cited by 2
Semantic Scholar
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Cited by 6
Semantic Scholar
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. OA
Cited by 13
Semantic Scholar
Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability
Cited by 4
Semantic Scholar
Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Cited by 8
Semantic Scholar
The role of CDHR3 in susceptibility to otitis media OA
Cited by 5
Semantic Scholar
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations OA
Cited by 1
Semantic Scholar
Research Topics
Genetic Associations and Epidemiology
(130)
Genomics and Rare Diseases
(109)
Genomic variations and chromosomal abnormalities
(63)
RNA modifications and cancer
(44)
Genetics and Neurodevelopmental Disorders
(37)
Affiliations
Human Genome Sciences (United States)
University of Vermont
University of North Carolina at Chapel Hill
California Institute of Technology
University of Parma