Claire Kyle

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

Leslie P. Molina‐Ramírez, Claire Kyle, Jamie M. Ellingford et al. · Journal of Medical Genetics · 2021 · 46 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience

Leslie P. Molina‐Ramírez, Emma Burkitt‐Wright, Haroon Saeed et al. · Clinical Otolaryngology · 2021 · 13 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Null variants and deletions in <i>BRWD3</i> cause an X‐linked syndrome of mild–moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients

Philip J. Ostrowski, Anna Zachariou, Chey Loveday et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2019 · 10 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17