Get started
Author

Lucy Mallin

Observed names: L. Mallin, Lucy J. Mallin
OpenAlex ID: A5041198731
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
2024 · Alistair T. Pagnamenta, Jing Yu, et al. · The American Journal of Human Genetics · 31
PDF
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood
2022 · Courtney E. French, Helen Dolling, et al. · Human Genetics and Genomics Advances · 21
PDF
Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy
2020 · H.K. Robinson, E. Zaklyazminskaya, et al. · Clinical Genetics · 17
Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia
2025 · James Fasham, Julia Rankin, et al. · The American Journal of Human Genetics · 3
Long-read sequencing enables trio-assisted phasing of de novo variants in the imprinted gene MAGEL2
2026 · Thomas W Laver, Preeah Sangha, et al. · Journal of Medical Genetics · 1
PDF
Long-read genome sequencing resolves a complex structural variant involving TBCD and exposes a gap in existing variant classification frameworks
2026 · Joseph Leslie, Alistair Pagnamenta, et al. · Research Square
PDF
Author response for "Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy"
2020 · H.K. Robinson, E. Zaklyazminskaya, et al. · Publons reviews and discussion
Works count: 7
Citation count: 73
H-index: 3
I10-index: 3
Year
Topic
Type