Publications:

---

Genetic variants in taste genes play a role in oral microbial composition and severe early childhood caries.

Iscience

de Jesus, Vivianne Cruz VC; Mittermuller, Betty-Anne BA; Hu, Pingzhao P; Schroth, Robert J RJ; Chelikani, Prashen P

Publication Date: 2022-12-22

Variant appearance in text: rs63982

PubMed Link: 36404915

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs63982

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

---

Consistent Assignment of Risk and Benign Allele at rs2303153 in the CF Modifier Gene SCNN1B in Three Independent F508del-CFTR Homozygous Patient Populations.

Genes

Stanke, Frauke F; Becker, Tim T; Ismer, Haide Susanne HS; Dunsche, Inga I; Hedtfeld, Silke S; Kontsendorn, Julia J; Dittrich, Anna-Maria AM; Tümmler, Burkhard B

Publication Date: 2021-09-29

Variant appearance in text: rs63982

PubMed Link: 34680949

Variant Present in the following documents:

• genes-12-01554.pdf

View BVdb publication page

---

Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs63982

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B.

Scientific Reports

Becker, Tim T; Pich, Andreas A; Tamm, Stephanie S; Hedtfeld, Silke S; Ibrahim, Mohammed M; Altmüller, Janine J; Dalibor, Nina N; Toliat, Mohammad Reza MR; Janciauskiene, Sabina S; Tümmler, Burkhard B; Stanke, Frauke F

Publication Date: 2020-12-31

Variant appearance in text: rs63982

PubMed Link: 33384439

Variant Present in the following documents:

• Main text
• 41598_2020_Article_79804.pdf

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: rs63982

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_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: SCNN1B: 312-41A>C; rs63982

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_6.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: rs63982

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

---

Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs63982

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

---

Associations of epithelial sodium channel genes with blood pressure: the GenSalt study.

Journal Of Human Hypertension

Liu, F F; Yang, X X; Mo, X X; Huang, J J; Chen, J J; Kelly, T N TN; Hixson, J E JE; Rao, D C DC; Gu, C C CC; Shimmin, L C LC; Chen, J J; Rice, T K TK; Li, J J; Schwander, K K; He, J J; Liu, D-P DP; Gu, D D

Publication Date: 2015-04

Variant appearance in text: rs63982

PubMed Link: 25231509

Variant Present in the following documents:

• nihms-614943.pdf

View BVdb publication page

---