Publications:

BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.

The Journal Of International Medical Research

Kharel, Sanjeev S; Shrestha, Suraj S; Yadav, Siddhartha S; Shakya, Prafulla P; Baidya, Sujita S; Hirachan, Suzita S

Publication Date: 2022-01

Variant appearance in text: TG: 68_69del; Glu23fs

PubMed Link: 35000471

Variant Present in the following documents:

• sj-pdf-3-imr-10.1177_03000605211070757.pdf

View BVdb publication page

BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.

The Journal Of International Medical Research

Kharel, Sanjeev S; Shrestha, Suraj S; Yadav, Siddhartha S; Shakya, Prafulla P; Baidya, Sujita S; Hirachan, Suzita S

Publication Date: 2022-01

Variant appearance in text: TG: 68_69del; Glu23fs

PubMed Link: 35000471

Variant Present in the following documents:

• sj-pdf-3-imr-10.1177_03000605211070757.pdf

View BVdb publication page

Implementing genomic screening in diverse populations.

Genome Medicine

Abul-Husn, Noura S NS; Soper, Emily R ER; Braganza, Giovanna T GT; Rodriguez, Jessica E JE; Zeid, Natasha N; Cullina, Sinead S; Bobo, Dean D; Moscati, Arden A; Merkelson, Amanda A; Loos, Ruth J F RJF; Cho, Judy H JH; Belbin, Gillian M GM; Suckiel, Sabrina A SA; Kenny, Eimear E EE

Publication Date: 2021-02-05

Variant appearance in text: TG: 68_69delAG; Glu23fs

PubMed Link: 33546753

Variant Present in the following documents:

• 13073_2021_832_MOESM1_ESM.pdf

View BVdb publication page

Neoantigen load and HLA-class I expression identify a subgroup of tumors with a T-cell-inflamed phenotype and favorable prognosis in homologous recombination-proficient high-grade serous ovarian carcinoma.

Journal For Immunotherapy Of Cancer

Matsushita, Hirokazu H; Hasegawa, Kosei K; Oda, Katsutoshi K; Yamamoto, Shogo S; Asada, Kayo K; Karasaki, Takahiro T; Yabuno, Akira A; Nishijima, Akira A; Nejo, Takahide T; Kobayashi, Yukari Y; Sato, Sho S; Ikeda, Yuji Y; Miyai, Manami M; Takahashi, Yusuke Y; Yamaguchi, Rui R; Fujiwara, Keiichi K; Aburatani, Hiroyuki H; Kakimi, Kazuhiro K

Publication Date: 2020-05

Variant appearance in text: TG: 68_69del

PubMed Link: 32461346

Variant Present in the following documents:

• jitc-2019-000375supp003.pdf

View BVdb publication page

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

Plos Genetics

Rivas, Manuel A MA; Avila, Brandon E BE; Koskela, Jukka J; Huang, Hailiang H; Stevens, Christine C; Pirinen, Matti M; Haritunians, Talin T; Neale, Benjamin M BM; Kurki, Mitja M; Ganna, Andrea A; Graham, Daniel D; Glaser, Benjamin B; Peter, Inga I; Atzmon, Gil G; Barzilai, Nir N; Levine, Adam P AP; Schiff, Elena E; Pontikos, Nikolas N; Weisburd, Ben B; Lek, Monkol M; Karczewski, Konrad J KJ; Bloom, Jonathan J; Minikel, Eric V EV; Petersen, Britt-Sabina BS; Beaugerie, Laurent L; Seksik, Philippe P; Cosnes, Jacques J; Schreiber, Stefan S; Bokemeyer, Bernd B; Bethge, Johannes J; , ; , ; , ; Heap, Graham G; Ahmad, Tariq T; Plagnol, Vincent V; Segal, Anthony W AW; Targan, Stephan S; Turner, Dan D; Saavalainen, Paivi P; Farkkila, Martti M; Kontula, Kimmo K; Palotie, Aarno A; Brant, Steven R SR; Duerr, Richard H RH; Silverberg, Mark S MS; Rioux, John D JD; Weersma, Rinse K RK; Franke, Andre A; Jostins, Luke L; Anderson, Carl A CA; Barrett, Jeffrey C JC; MacArthur, Daniel G DG; Jalas, Chaim C; Sokol, Harry H; Xavier, Ramnik J RJ; Pulver, Ann A; Cho, Judy H JH; McGovern, Dermot P B DPB; Daly, Mark J MJ

Publication Date: 2018-05

Variant appearance in text: TG: Glu23Valfs

PubMed Link: 29795570

Variant Present in the following documents:

• pgen.1007329.pdf

View BVdb publication page