Detalhe da pesquisa
1.
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.
Genet Med
; 26(2): 101029, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37982373
2.
Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts.
J Med Genet
; 60(1): 84-90, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34916230
3.
Results from London Regional Clinical Genetics services over a 5-year period on germline TP53 testing in women diagnosed with breast cancer at <30 years.
J Med Genet
; 59(6): 554-558, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34266904
4.
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Genet Med
; 23(7): 1315-1324, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33864021
5.
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.
Clin Genet
; 98(2): 172-178, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32415735
6.
Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Genet Med
; 23(7): 1376-1377, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040196
7.
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.
medRxiv
; 2023 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37066232
8.
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
medRxiv
; 2023 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37066275
9.
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Genome Med
; 15(1): 86, 2023 10 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37872640
10.
Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcare.
Clin Med (Lond)
; 19(4): 269-272, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31308101