Emily Palen
Autism & Developmental Medicine Institute(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Autism Spectrum Disorder Research, BRCA gene mutations in cancer, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research(2018)480 cited
- → Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population(2020)71 cited
- → ClinGen's GenomeConnect registry enables patient‐centered data sharing(2018)41 cited
- → Heterozygous variants in SPTBN1 cause intellectual disability and autism(2021)26 cited
- → Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3(2021)23 cited
- → The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants(2018)17 cited
- → Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry(2021)16 cited
- → Expanding the KIF4A‐associated phenotype(2021)13 cited
- → Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses(2021)6 cited
- → IDENTIFICATION AND RESULTS DISCLOSURE: OF RARE, PATHOGENIC COPY NUMBER VARIANTS TO ADULT RESEARCH PARTICIPANTS WITH DEVELOPMENTAL BRAIN DISORDERS(2019)