Search details
1.
Genetic predisposition to mosaic Y chromosome loss in blood.
Nature
; 575(7784): 652-657, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31748747
2.
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Genet Med
; 24(3): 552-563, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34906453
3.
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Genet Med
; 24(1): 41-50, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34906457
4.
Prioritisation by FIT to mitigate the impact of delays in the 2-week wait colorectal cancer referral pathway during the COVID-19 pandemic: a UK modelling study.
Gut
; 70(6): 1053-1060, 2021 06.
Article
in English
| MEDLINE | ID: mdl-32855306
5.
Effect of delays in the 2-week-wait cancer referral pathway during the COVID-19 pandemic on cancer survival in the UK: a modelling study.
Lancet Oncol
; 21(8): 1035-1044, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32702311
6.
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Am J Hum Genet
; 100(5): 725-736, 2017 May 04.
Article
in English
| MEDLINE | ID: mdl-28475857
7.
Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.
Am J Med Genet C Semin Med Genet
; 181(4): 638-643, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31714006
8.
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.
Am J Med Genet C Semin Med Genet
; 181(4): 502-508, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31479583
9.
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
Am J Med Genet C Semin Med Genet
; 181(4): 557-564, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31721432
10.
EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome.
Am J Med Genet A
; 179(4): 588-594, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30793471
11.
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
Am J Med Genet A
; 179(10): 2049-2055, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31400068
12.
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
Nature
; 493(7432): 406-10, 2013 Jan 17.
Article
in English
| MEDLINE | ID: mdl-23242139
13.
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
Hum Mol Genet
; 24(17): 4775-9, 2015 09 01.
Article
in English
| MEDLINE | ID: mdl-25972378
14.
Disease evolution and outcomes in familial AML with germline CEBPA mutations.
Blood
; 126(10): 1214-23, 2015 Sep 03.
Article
in English
| MEDLINE | ID: mdl-26162409
15.
Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
Hum Mol Genet
; 28(9): 1578, 2019 05 01.
Article
in English
| MEDLINE | ID: mdl-30615140
16.
Association Study between Polymorphisms in DNA Methylation-Related Genes and Testicular Germ Cell Tumor Risk.
Cancer Epidemiol Biomarkers Prev
; 31(9): 1769-1779, 2022 09 02.
Article
in English
| MEDLINE | ID: mdl-35700037
17.
Genetically Inferred Telomere Length and Testicular Germ Cell Tumor Risk.
Cancer Epidemiol Biomarkers Prev
; 30(6): 1275-1278, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33737296
18.
Identification of 22 susceptibility loci associated with testicular germ cell tumors.
Nat Commun
; 12(1): 4487, 2021 07 23.
Article
in English
| MEDLINE | ID: mdl-34301922
19.
Germline and Somatic Genetic Variants in the p53 Pathway Interact to Affect Cancer Risk, Progression, and Drug Response.
Cancer Res
; 81(7): 1667-1680, 2021 04 01.
Article
in English
| MEDLINE | ID: mdl-33558336
20.
Genomic landscape of platinum resistant and sensitive testicular cancers.
Nat Commun
; 11(1): 2189, 2020 05 04.
Article
in English
| MEDLINE | ID: mdl-32366847