Publications:

---

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: ARID1A: N874S; rs140123561

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

Missense Variants Reveal Functional Insights Into the Human ARID Family of Gene Regulators.

Journal Of Molecular Biology

Deák, Gauri G; Cook, Atlanta G AG

Publication Date: 2022-05-15

Variant appearance in text: rs140123561

PubMed Link: 35257783

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

---

Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: ARID1A: N874S

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9

View BVdb publication page

---

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: ARID1A: 2621A>G; Asn874Ser; rs140123561

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 6

View BVdb publication page

---

Identification of the genetic and clinical characteristics of neuroblastomas using genome-wide analysis.

Oncotarget

Uryu, Kumiko K; Nishimura, Riki R; Kataoka, Keisuke K; Sato, Yusuke Y; Nakazawa, Atsuko A; Suzuki, Hiromichi H; Yoshida, Kenichi K; Seki, Masafumi M; Hiwatari, Mitsuteru M; Isobe, Tomoya T; Shiraishi, Yuichi Y; Chiba, Kenichi K; Tanaka, Hiroko H; Miyano, Satoru S; Koh, Katsuyoshi K; Hanada, Ryoji R; Oka, Akira A; Hayashi, Yasuhide Y; Ohira, Miki M; Kamijo, Takehiko T; Nagase, Hiroki H; Takimoto, Tetsuya T; Tajiri, Tatsuro T; Nakagawara, Akira A; Ogawa, Seishi S; Takita, Junko J

Publication Date: 2017-12-08

Variant appearance in text: ARID1A: N874S

PubMed Link: 29296183

Variant Present in the following documents:

• oncotarget-08-107513-s001.pdf

View BVdb publication page

---

Integrated genetic and epigenetic analysis defines novel molecular subgroups in rhabdomyosarcoma.

Nature Communications

Seki, Masafumi M; Nishimura, Riki R; Yoshida, Kenichi K; Shimamura, Teppei T; Shiraishi, Yuichi Y; Sato, Yusuke Y; Kato, Motohiro M; Chiba, Kenichi K; Tanaka, Hiroko H; Hoshino, Noriko N; Nagae, Genta G; Shiozawa, Yusuke Y; Okuno, Yusuke Y; Hosoi, Hajime H; Tanaka, Yukichi Y; Okita, Hajime H; Miyachi, Mitsuru M; Souzaki, Ryota R; Taguchi, Tomoaki T; Koh, Katsuyoshi K; Hanada, Ryoji R; Kato, Keisuke K; Nomura, Yuko Y; Akiyama, Masaharu M; Oka, Akira A; Igarashi, Takashi T; Miyano, Satoru S; Aburatani, Hiroyuki H; Hayashi, Yasuhide Y; Ogawa, Seishi S; Takita, Junko J

Publication Date: 2015-07-03

Variant appearance in text: ARID1A: N874S

PubMed Link: 26138366

Variant Present in the following documents:

• ncomms8557-s5.xlsx, sheet 1
• ncomms8557-s1.pdf

View BVdb publication page

---