Emily O’Heir

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger et al. · New England Journal of Medicine · 2024 · 144 citations · Full text

<i>seqr</i> : A web‐based analysis and collaboration tool for rare disease genomics

Lynn Pais, Hana Snow, Ben Weisburd et al. · Human Mutation · 2022 · 105 citations · Full text

Causal Variants, Web‐based Analysis, Genetics +23

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Alicia B. Byrne, Peer Arts, Thuong Ha et al. · Nature Medicine · 2023 · 54 citations · Full text

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata et al. · Genetics in Medicine · 2021 · 47 citations · Full text

Neurobiology Of Disease, Corticobasal Degeneration, Neurological Disorder +9

Biallelic<i>PI4KA</i>variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

Edgard Verdura, Agustí Rodríguez‐Palmero, Valentina Vélez-Santamaría et al. · Brain · 2021 · 47 citations · Full text