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Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency

• Authors : Shekari, Saleh; Stankovic, Stasa; Gardner, Eugene J.

Subjects: /dk/atira/pure/core/keywords/icep; name=ICEP

• Source: Shekari , S , Stankovic , S , Gardner , E J , Ruth , K S , Perry , J R B , Murray , A & al , E 2023 , ' Penetrance of pathogenic genetic variants associated with

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Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series

• Authors : Koriath, Carolin; Kenny, Joanna; Adamson, G

• Source: Koriath , C , Kenny , J , Adamson , G , Druyeh , R , Tayler , W , Beck , J , Quinn , L , Mok , TH , Dimitriadis , A , Norsworthy , P , Bass , N , Carter , J , Kipps , C , Coulthard , L , Polke , JM ,

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The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants

• Authors : Stefanucci, Luca; Collins, Janine H; Sims, Matthew Christopher

• Source: Stefanucci , L , Collins , J H , Sims , M C , Barrio-Hernandez , I , Sun , L , Burren , O , Perfetto , L , Bender , I , Callahan , T J , Fleming , K , Guerrero , J A , Hermjakob , H , Martin , M J ,

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Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication:A multicentric analysis of 206 patients

• Authors : Hamad, Asma; Sherlaw-Sturrock, Charlotte A.; Glover, Kate

Subjects: 16p13.11 micro duplication; Aortic dilatation; Congenital heart defect

• Source: Hamad , A , Sherlaw-Sturrock , C A , Glover , K , Salmon , R , Low , K , Nair , R , Sansbury , F H , Rawlins , L E , Carmichael , J , Horton , R , Wedderburn , S , Edgerley , K , Irving , R ,

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Ovarian Cancer Risk Variants Are Enriched in Histotype-Specific Enhancers and Disrupt Transcription Factor Binding Sites

• Authors : Berman, Benjamin P; Freedman, Matthew L; Plummer, Jasmine T

Subjects: Genome-wide association studies; epithelial ovarian cancer; cells of origin

• Source: Berman , B P , Freedman , M L , Plummer , J T , Lawrenson , K , Pharoah , P & Hazelett , D J & Gayther , S A 2020 , ' Ovarian Cancer Risk Variants Are Enriched in Histotype-Specific Enhancers and

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Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants

Subjects: /dk/atira/pure/core/keywords/btc_bristol_trials_centre_; name=BTC (Bristol Trials Centre); /dk/atira/pure/core/keywords/centre_for_surgical_research

• Source: the PRACTICAL Consortium 2018 , ' Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants ' , Nature Communications , vol. 9 , no. 1 , 2256 .

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Elucidating the novel BRCA1 function as a Non-Genomic metabolic restraint in ER-positive breast cancer cell lines

• Authors : Koobotse, Moses O; Holly, Jeff M. P.; Perks, Claire

Subjects: /dk/atira/pure/core/keywords/icep; ICEP; BRCA1

• Source: Koobotse , M O , Holly , J M P & Perks , C 2018 , ' Elucidating the novel BRCA1 function as a Non-Genomic metabolic restraint in ER-positive breast cancer cell lines ' , Oncotarget , vol. 9 , no. 71 ,

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