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1.
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.
Am J Hum Genet
; 99(5): 1117-1129, 2016 Nov 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-27773430
2.
Comprehensive analysis of the MLH1 promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation.
J Med Genet
; 55(4): 240-248, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29472279
3.
Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.
PLoS Genet
; 12(8): e1006248, 2016 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-27504877
4.
Identification of genetic variants for clinical management of familial colorectal tumors.
BMC Med Genet
; 19(1): 26, 2018 02 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-29458332
5.
Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.
Hered Cancer Clin Pract
; 16: 4, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29371908
6.
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
J Med Genet
; 53(6): 419-25, 2016 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-26843489
7.
Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing.
Sci Rep
; 9(1): 18555, 2019 12 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-31811167
8.
Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
Fam Cancer
; 17(1): 141-153, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28608266
9.
Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6.
Fam Cancer
; 16(4): 491-500, 2017 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-28528517
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