Search details
1.
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Am J Hum Genet
; 109(12): 2270-2282, 2022 12 01.
Article
in English
| MEDLINE | ID: mdl-36368327
2.
The psychosocial impact of prostate cancer screening for BRCA1 and BRCA2 carriers.
BJU Int
; 2024 Jun 05.
Article
in English
| MEDLINE | ID: mdl-38839570
3.
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study.
Lancet Oncol
; 22(11): 1618-1631, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34678156
4.
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
Am J Hum Genet
; 103(1): 3-18, 2018 07 05.
Article
in English
| MEDLINE | ID: mdl-29909963
5.
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.
Genet Med
; 23(2): 408-414, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33033404
6.
EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.
Hum Mutat
; 40(2): 142-161, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30461124
7.
Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations.
BJU Int
; 123(2): 284-292, 2019 02.
Article
in English
| MEDLINE | ID: mdl-29802810
8.
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
9.
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
J Med Genet
; 55(6): 384-394, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29386252
10.
Identifying Lynch Syndrome in Women Presenting With Endometrial Carcinoma Under the Age of 50 Years.
Int J Gynecol Cancer
; 27(5): 931-937, 2017 06.
Article
in English
| MEDLINE | ID: mdl-28498244
11.
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Am J Hum Genet
; 92(2): 210-20, 2013 Feb 07.
Article
in English
| MEDLINE | ID: mdl-23332918
12.
Gene-gene interactions in breast cancer susceptibility.
Hum Mol Genet
; 21(4): 958-62, 2012 Feb 15.
Article
in English
| MEDLINE | ID: mdl-22072393
13.
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.
Am J Hum Genet
; 89(2): 308-12, 2011 Aug 12.
Article
in English
| MEDLINE | ID: mdl-21820100
14.
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.
Eur J Hum Genet
; 31(12): 1421-1429, 2023 12.
Article
in English
| MEDLINE | ID: mdl-37704779
15.
A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.
Genome Med
; 14(1): 79, 2022 07 26.
Article
in English
| MEDLINE | ID: mdl-35883178
16.
Constitutional trisomy 8 and Behçet syndrome.
Am J Med Genet A
; 149A(5): 982-6, 2009 May.
Article
in English
| MEDLINE | ID: mdl-19353586
17.
First report of somatic mosaicism for mutations in STK11 in four patients with Peutz-Jeghers syndrome.
Fam Cancer
; 15(1): 57-61, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26386697
18.
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
Nat Genet
; 48(1): 36-43, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26595769
19.
Germline mutations in RAD51D confer susceptibility to ovarian cancer.
Nat Genet
; 43(9): 879-882, 2011 Aug 07.
Article
in English
| MEDLINE | ID: mdl-21822267
20.
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.
Am J Hum Genet
; 80(2): 232-40, 2007 Feb.
Article
in English
| MEDLINE | ID: mdl-17236129