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Emily O’Heir | doi.page

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Emily O’Heir

Broad Institute(US)Broad Institute(US)Boston Children's Hospital(US)Broad Center(US)

Publications by Year

Research Areas

Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Cancer Genomics and Diagnostics, RNA modifications and cancer

Most-Cited Works

→ Genome Sequencing for Diagnosing Rare Diseases(2024)160 cited
→ seqr : A web‐based analysis and collaboration tool for rare disease genomics(2022)107 cited
→ Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death(2023)57 cited
→ BiallelicPI4KAvariants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy(2021)47 cited
→ Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations(2021)47 cited
→ Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy(2024)30 cited
→

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

(2021)

30 cited

→ De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability(2021)29 cited

→ Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling(2022)19 cited

→ Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease(2024)18 cited