Emma Burkitt‐Wright

机构：Manchester Academic Health Science Centre, University of Manchester, Manchester University NHS Foundation Trust, St Mary's Hospital · ORCID：0000-0002-2987-8103

发表论文 45 篇 · 总被引 2168 次 · h-index 22

代表论文

The contribution of X-linked coding variation to severe developmental disorders (2021 · Nature Communications · 被引 67)
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders (2021 · Journal of Medical Genetics · 被引 48)
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation (2023 · Nature Communications · 被引 43)
Infant excitation/inhibition balance interacts with executive attention to predict autistic traits in childhood (2022 · Molecular Autism · 被引 36)
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder (2024 · Journal of Clinical Investigation · 被引 29)
Cognitive and Electrophysiological Correlates of Working Memory Impairments in Neurofibromatosis Type 1 (2021 · Journal of Autism and Developmental Disorders · 被引 29)