Publications:

---

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: KMT2D: 8813C>T; Pro2938Leu

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: KMT2D: P2938L; rs142395705

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

---

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: KMT2D: P2938L

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging

Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M

Publication Date: 2022-05-25

Variant appearance in text: KMT2D: 8813C>T; P2938L

PubMed Link: 35613927

Variant Present in the following documents:

• aging-14-204101-s004.xlsx, sheet 1

View BVdb publication page

---

Genetic heterogeneity during breast cancer progression in young patients.

Breast (Edinburgh, Scotland)

Hagio, Kanako K; Hatanaka, Kanako C KC; Amano, Toraji T; Matsuno, Yoshihiro Y; Hatanaka, Yutaka Y; Yamashita, Hiroko H

Publication Date: 2021-10-28

Variant appearance in text: KMT2D: P2938L

PubMed Link: 34736091

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Genetic heterogeneity during breast cancer progression in young patients.

Breast (Edinburgh, Scotland)

Hagio, Kanako K; Hatanaka, Kanako C KC; Amano, Toraji T; Matsuno, Yoshihiro Y; Hatanaka, Yutaka Y; Yamashita, Hiroko H

Publication Date: 2021-12

Variant appearance in text: KMT2D: P2938L

PubMed Link: 34736091

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

A Fifteen-Gene Classifier to Predict Neoadjuvant Chemotherapy Responses in Patients with Stage IB to IIB Squamous Cervical Cancer.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)

Tian, Xun X; Wang, Xin X; Cui, Zifeng Z; Liu, Jia J; Huang, Xiaoyuan X; Shi, Caixia C; Zhang, Min M; Liu, Ting T; Du, Xiaofang X; Li, Rui R; Huang, Lei L; Gong, Danni D; Tian, Rui R; Cao, Chen C; Jin, Ping P; Zeng, Zhen Z; Pan, Guangxin G; Xia, Meng M; Zhang, Hongfeng H; Luo, Bo B; Xie, Yonghui Y; Li, Xiaoming X; Li, Tianye T; Wu, Jun J; Zhang, Qinghua Q; Chen, Gang G; Hu, Zheng Z

Publication Date: 2021-05

Variant appearance in text: KMT2D: P2938L

PubMed Link: 34026427

Variant Present in the following documents:

• ADVS-8-2001978-s004.xlsx, sheet 4

View BVdb publication page

---

Genetic profile of adult T-cell leukemia/lymphoma in Okinawa: Association with prognosis, ethnicity, and HTLV-1 strains.

Cancer Science

Sakihama, Shugo S; Morichika, Kazuho K; Saito, Rumiko R; Miyara, Megumi M; Miyagi, Takashi T; Hayashi, Masaki M; Uchihara, Junnosuke J; Tomoyose, Takeaki T; Ohshiro, Kazuiku K; Nakayama, Shingo S; Nakachi, Sawako S; Morishima, Satoko S; Sakai, Kazuko K; Nishio, Kazuto K; Masuzaki, Hiroaki H; Fukushima, Takuya T; Karube, Kennosuke K

Publication Date: 2021-03

Variant appearance in text: KMT2D: P2938L

PubMed Link: 33426772

Variant Present in the following documents:

• CAS-112-1300-s002.xlsx, sheet 4

View BVdb publication page

---

Circulating tumor DNA predicts response in Chinese patients with relapsed or refractory classical hodgkin lymphoma treated with sintilimab.

Ebiomedicine

Shi, Yuankai Y; Su, Hang H; Song, Yongping Y; Jiang, Wenqi W; Sun, Xiuhua X; Qian, Wenbin W; Zhang, Wei W; Gao, Yuhuan Y; Jin, Zhengming Z; Zhou, Jianfeng J; Jin, Chuan C; Zou, Liqun L; Qiu, Lugui L; Li, Wei W; Yang, Jianmin J; Hou, Ming M; Xiong, Yan Y; Zhou, Hui H; Du, Xinhua X; Wang, Xiong X; Peng, Bo B

Publication Date: 2020-04

Variant appearance in text: rs142395705

PubMed Link: 32304999

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

View BVdb publication page

---

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: KMT2D: 8813C>T; P2938L

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Genome Medicine

Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM

Publication Date: 2019-05-28

Variant appearance in text: KMT2D: 8813C>T; Pro2938Leu

PubMed Link: 31133068

Variant Present in the following documents:

• 13073_2019_644_MOESM3_ESM.xlsx, sheet 1

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: KMT2D: 8813C>T; Pro2938Leu; rs142395705

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 10

View BVdb publication page

---