Publications:

---

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: AQP2: 170A>C; Gln57Pro

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

---

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: AQP2: 170A>C; Gln57Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus.

Frontiers In Pediatrics

Liao, Panli P; Xiang, Tianchao T; Li, Hongxia H; Fang, Ye Y; Fang, Xiaoyan X; Zhang, Zhiqing Z; Cao, Qi Q; Zhai, Yihui Y; Chen, Jing J; Xu, Linan L; Liu, Jialu J; Tang, Xiaoshan X; Liu, Xiaorong X; Wang, Xiaowen X; Luan, Jiangwei J; Shen, Qian Q; Chen, Lizhi L; Jiang, Xiaoyun X; Ma, Duan D; Xu, Hong H; Rao, Jia J

Publication Date: 2021

Variant appearance in text: AQP2: Gln57Pro

PubMed Link: 33996673

Variant Present in the following documents:

• Data_Sheet_1.pdf

View BVdb publication page

---

AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.

Cells

Gao, Chao C; Higgins, Paul J PJ; Zhang, Wenzheng W

Publication Date: 2020-09-26

Variant appearance in text: AQP2: Q57P

PubMed Link: 32993088

Variant Present in the following documents:

• Main text
• cells-09-02172.pdf

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: AQP2: 170A>C; Gln57Pro; rs28931580

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

---

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: AQP2: Q57P; rs28931580

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

Structural Basis for Mutations of Human Aquaporins Associated to Genetic Diseases.

International Journal Of Molecular Sciences

Calvanese, Luisa L; D'Auria, Gabriella G; Vangone, Anna A; Falcigno, Lucia L; Oliva, Romina R

Publication Date: 2018-05-25

Variant appearance in text: AQP2: Q57P

PubMed Link: 29799470

Variant Present in the following documents:

• Main text
• ijms-19-01577.pdf

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs28931580

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: AQP2: Q57P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

---

Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology.

Clinical Kidney Journal

Bichet, Daniel G DG; El Tarazi, Abdulah A; Matar, Jessica J; Lussier, Yoann Y; Arthus, Marie-Françoise MF; Lonergan, Michèle M; Bockenhauer, Detlef D; Bissonnette, Pierre P

Publication Date: 2012-06

Variant appearance in text: AQP2: Q57P

PubMed Link: 26069764

Variant Present in the following documents:

• Main text
• sfs029.pdf

View BVdb publication page

---