Publications:

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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: rs17030285

PubMed Link: 36307579

Variant Present in the following documents:

• 41422_2022_736_MOESM10_ESM.xlsx, sheet 3

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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: rs17030285

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: rs17030285

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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Meta-analysis and field synopsis of genetic variants associated with the risk and severity of acute pancreatitis.

Bjs Open

van den Berg, F F FF; Kempeneers, M A MA; van Santvoort, H C HC; Zwinderman, A H AH; Issa, Y Y; Boermeester, M A MA

Publication Date: 2020-02

Variant appearance in text: rs17030285

PubMed Link: 32011822

Variant Present in the following documents:

• BJS5-4-3-s002.xlsx, sheet 2

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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: rs17030285

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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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: rs17030285

PubMed Link: 26549847

Variant Present in the following documents:

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

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Colonic mucosal gene expression and genotype in irritable bowel syndrome patients with normal or elevated fecal bile acid excretion.

American Journal Of Physiology. Gastrointestinal And Liver Physiology

Camilleri, Michael M; Carlson, Paula P; Acosta, Andres A; Busciglio, Irene I

Publication Date: 2015-07-01

Variant appearance in text: rs17030285

PubMed Link: 25930081

Variant Present in the following documents:

• Main text

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Impact of global Fxr deficiency on experimental acute pancreatitis and genetic variation in the FXR locus in human acute pancreatitis.

Plos One

Nijmeijer, Rian M RM; Schaap, Frank G FG; Smits, Alexander J J AJ; Kremer, Andreas E AE; Akkermans, Louis M A LM; Kroese, Alfons B A AB; Rijkers, Ger T GT; Schipper, Marguerite E I ME; Verheem, André A; Wijmenga, Cisca C; Gooszen, Hein G HG; van Erpecum, Karel J KJ

Publication Date: 2014

Variant appearance in text: rs17030285

PubMed Link: 25470824

Variant Present in the following documents:

• Main text
• pone.0114393.pdf

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Irritable bowel syndrome-diarrhea: characterization of genotype by exome sequencing, and phenotypes of bile acid synthesis and colonic transit.

American Journal Of Physiology. Gastrointestinal And Liver Physiology

Camilleri, Michael M; Klee, Eric W EW; Shin, Andrea A; Carlson, Paula P; Li, Ying Y; Grover, Madhusudan M; Zinsmeister, Alan R AR

Publication Date: 2014-01-01

Variant appearance in text: rs17030285

PubMed Link: 24200957

Variant Present in the following documents:

• Main text

View BVdb publication page

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