Lucy Loong

Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK).

S. Ellard, D. Eccles, C. Turnbull, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

A. Pagnamenta, Jenny C. Taylor, M. Roselló, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

L. Fallowfield, C. Turnbull, M. Hubank, 2022, Journal of Medical Genetics.

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

A. Antoniou, D. Eccles, C. Turnbull, 2022, Journal of Medical Genetics.

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

A. Pagnamenta, E. Barbier, P. Bauer, 2019, Human molecular genetics.

HNRNPH1‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome

S. Ellard, H. Stewart, E. De Franco, 2020, Clinical genetics.

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

P. Tarpey, D. Baralle, J. Tolmie, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

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

T. Kleefstra, C. Fagerberg, M. Kurian, 2021, medRxiv.

Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996–2020: development of a national resource of patient-level genomics laboratory records

A. Antoniou, D. Eccles, C. Turnbull, 2022, Journal of Medical Genetics.