Publications:

---

Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: RET: 539G>A; R180Q

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

---

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: RET: 539G>A; rs370736139

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

---

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: RET: 539G>A; R180Q

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Serial mutational tracking in surgically resected locally advanced colorectal cancer with neoadjuvant chemotherapy.

British Journal Of Cancer

Sugimachi, Keishi K; Sakimura, Shotaro S; Kuramitsu, Shotaro S; Hirata, Hidenari H; Niida, Atsushi A; Iguchi, Tomohiro T; Eguchi, Hidetoshi H; Masuda, Takaaki T; Morita, Masaru M; Toh, Yasushi Y; Maehara, Yoshihiko Y; Suzuki, Yutaka Y; Mimori, Koshi K

Publication Date: 2018-08

Variant appearance in text: RET: R180Q

PubMed Link: 30072744

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: RET: 539G>A; Arg180Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Visualization of tumor heterogeneity by in situ padlock probe technology in colorectal cancer.

Histochemistry And Cell Biology

El-Heliebi, Amin A; Kashofer, Karl K; Fuchs, Julia J; Jahn, Stephan W SW; Viertler, Christian C; Matak, Andrija A; Sedlmayr, Peter P; Hoefler, Gerald G

Publication Date: 2017-08

Variant appearance in text: RET: R180Q

PubMed Link: 28321501

Variant Present in the following documents:

• 418_2017_1557_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: RET: R180Q

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2
• 1471-2164-14-S3-S7-S1.xlsx, sheet 3

View BVdb publication page

---

RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

Plos One

So, Man-Ting MT; Leon, Thomas Yuk-Yu TY; Cheng, Guo G; Tang, Clara Sze-Man CS; Miao, Xiao-Ping XP; Cornes, Belinda K BK; Diem, Ngoc Ngo NN; Cui, Long L; Ngan, Elly Sau-Wai ES; Lui, Vincent Chai-Hang VC; Wu, Xuan-Zhao XZ; Wang, Bin B; Wang, Hualong H; Yuan, Zheng-Wei ZW; Huang, Liu-Ming LM; Li, Long L; Xia, Huimin H; Zhu, Deli D; Liu, Juncheng J; Nguyen, Thanh Liem TL; Chan, Ivy Hau-Yee IH; Chung, Patrick Ho-Yu PH; Liu, Xue-Lai XL; Zhang, Ruizhong R; Wong, Kenneth Kak-Yuen KK; Sham, Pak-Chung PC; Cherny, Stacey S SS; Tam, Paul Kwong-Hang PK; Garcia-Barcelo, Maria-Mercè MM

Publication Date: 2011

Variant appearance in text: RET: R180Q

PubMed Link: 22174939

Variant Present in the following documents:

• Main text
• pone.0028986.pdf

View BVdb publication page

---