Lucy Loong

Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice

Alistair T. Pagnamenta, Pierre Heemeryck, Hilary C. Martin et al. · Human Molecular Genetics · 2019 · 66 citations · Full text

Life Sciences, Genetics, Neuroscience +14

<scp> <i>HNRNPH1</i> </scp> ‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome

Sara L. Reichert, Rachel Li, Scott A. Turner et al. · Clinical Genetics · 2020 · 46 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder

Holly Melland, Fabian Bumbak, Anna Kolesnik et al. · Genetics in Medicine · 2022 · 45 citations · Full text

Life Sciences, Genetics, Neuroscience +17

UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: <i>RAD51C</i>, <i>RAD51D</i>, <i>BRIP1</i> and <i>PALB2</i>

Helen Hanson, Anjana Kulkarni, Lucy Loong et al. · Journal of Medical Genetics · 2022 · 44 citations · Full text

Medicine, Gynecology, Oncology +17

A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot

Bethany Torr, Christopher I. Jones, Subin Choi et al. · Journal of Medical Genetics · 2022 · 30 citations · Full text

Medicine, Genetics, Oncology +15