Publications:

---

Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs5100

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research

Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y

Publication Date: 2022-12

Variant appearance in text: rs5100

PubMed Link: 36307579

Variant Present in the following documents:

• 41422_2022_736_MOESM10_ESM.xlsx, sheet 3

View BVdb publication page

---

Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs5100

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

---

Mapping the spreading routes of lymphatic metastases in human colorectal cancer.

Nature Communications

Zhang, Chong C; Zhang, Lin L; Xu, Tianlei T; Xue, Ruidong R; Yu, Liang L; Zhu, Yuelu Y; Wu, Yunlong Y; Zhang, Qingqing Q; Li, Dongdong D; Shen, Shuohao S; Tan, Dongfeng D; Bai, Fan F; Zhang, Haizeng H

Publication Date: 2020-04-24

Variant appearance in text: rs5100

PubMed Link: 32332722

Variant Present in the following documents:

• 41467_2020_15886_MOESM5_ESM.xlsx, sheet 8

View BVdb publication page

---

Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs5100

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

---

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: APOA4: 177-97C>T; rs5100

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

---

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs5100

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

---

mir-34b/c and mir-449a/b/c are required for spermatogenesis, but not for the first cleavage division in mice.

Biology Open

Yuan, Shuiqiao S; Tang, Chong C; Zhang, Ying Y; Wu, Jingwen J; Bao, Jianqiang J; Zheng, Huili H; Xu, Chen C; Yan, Wei W

Publication Date: 2015-01-23

Variant appearance in text: rs5100

PubMed Link: 25617420

Variant Present in the following documents:

• bio-04-02-212.pdf

View BVdb publication page

---

Salmonella enterica serovar Typhimurium ΔmsbB triggers exacerbated inflammation in Nod2 deficient mice.

Plos One

Claes, Anne-Kathrin AK; Steck, Natalie N; Schultz, Dorothee D; Zähringer, Ulrich U; Lipinski, Simone S; Rosenstiel, Philip P; Geddes, Kaoru K; Philpott, Dana J DJ; Heine, Holger H; Grassl, Guntram A GA

Publication Date: 2014

Variant appearance in text: rs5100

PubMed Link: 25423082

Variant Present in the following documents:

• pone.0113645.pdf

View BVdb publication page

---

A post-classical theory of enamel biomineralization… and why we need one.

International Journal Of Oral Science

Simmer, James P JP; Richardson, Amelia S AS; Hu, Yuan-Yuan YY; Smith, Charles E CE; Ching-Chun Hu, Jan J

Publication Date: 2012-09

Variant appearance in text: rs5100

PubMed Link: 22996272

Variant Present in the following documents:

• ijos201259a.pdf

View BVdb publication page

---

Angiotensin II type 1 receptors may not influence response of spinal autonomic neurons to axonal damage.

Neurological Research

Tang, Hui H; Pavel, Jaroslav J; Saavedra, Juan M JM; Brimijoin, Stephen S

Publication Date: 2008-09

Variant appearance in text: rs5100

PubMed Link: 18498681

Variant Present in the following documents:

• Main text

View BVdb publication page

---