Publications:

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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: HSD17B3: V31I

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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Analyses of Molecular Characteristics and Enzymatic Activities of Ovine HSD17B3.

Animals : An Open Access Journal From Mdpi

Islam, Mohammad Sayful MS; Uwada, Junsuke J; Hayashi, Junki J; Kikuya, Kei-Ichiro KI; Muranishi, Yuki Y; Watanabe, Hiroyuki H; Yaegashi, Kazuhide K; Hasegawa, Kazuya K; Ida, Takanori T; Sato, Takahiro T; Imamichi, Yoshitaka Y; Kitano, Takeshi T; Miyashiro, Yoshimichi Y; Khan, Rafiqul Islam RI; Takahashi, Satoru S; Umezawa, Akihiro A; Suzuki, Nobuo N; Sekiguchi, Toshio T; Yazawa, Takashi T

Publication Date: 2021-09-30

Variant appearance in text: HSD17B3: V31I

PubMed Link: 34679897

Variant Present in the following documents:

• Main text
• animals-11-02876.pdf

View BVdb publication page

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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: HSD17B3: 91G>A; V31I; rs2066480

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: HSD17B3: V31I; rs2066480

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Relation between sex hormones and leucocyte telomere length in men with idiopathic pulmonary fibrosis.

Respirology (Carlton, Vic.)

Fang, Chuling C; Huang, Hui H; Zhang, Qian Q; Wang, Na N; Jing, Xiaoyan X; Guo, Jian J; Ferianc, Martin M; Xu, Zuojun Z

Publication Date: 2020-12

Variant appearance in text: rs2066480

PubMed Link: 32583532

Variant Present in the following documents:

• Main text
• RESP-25-1265.pdf

View BVdb publication page

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Systematic comparison of hUC-MSCs at various passages reveals the variations of signatures and therapeutic effect on acute graft-versus-host disease.

Stem Cell Research & Therapy

Zhao, Qinjun Q; Zhang, Leisheng L; Wei, Yimeng Y; Yu, Hao H; Zou, Linglin L; Huo, Jiali J; Yang, Hongju H; Song, Baoquan B; Wei, Teng T; Wu, Dan D; Zhang, Wenxia W; Zhang, Lei L; Liu, Dengke D; Li, Zongjin Z; Chi, Ying Y; Han, Zhibo Z; Han, Zhongchao Z

Publication Date: 2019-11-28

Variant appearance in text: HSD17B3: V31I; rs2066480

PubMed Link: 31779707

Variant Present in the following documents:

• 13287_2019_1478_MOESM6_ESM.xlsx, sheet 9
• 13287_2019_1478_MOESM6_ESM.xlsx, sheet 6
• 13287_2019_1478_MOESM6_ESM.xlsx, sheet 5
• 13287_2019_1478_MOESM6_ESM.xlsx, sheet 3
• 13287_2019_1478_MOESM6_ESM.xlsx, sheet 8
• 13287_2019_1478_MOESM6_ESM.xlsx, sheet 2

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: HSD17B3: V31I; rs2066480

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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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: HSD17B3: 91G>A; Val31Ile; rs2066480

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: HSD17B3: V31I; rs2066480

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: HSD17B3: V31I; rs2066480

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

View BVdb publication page

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Somatic Variations in Cervical Cancers in Indian Patients.

Plos One

Das, Poulami P; Bansal, Akanksha A; Rao, Sudha Narayan SN; Deodhar, Kedar K; Mahantshetty, Umesh U; Shrivastava, Shyam K SK; Sivaraman, Karthikeyan K; Mulherkar, Rita R

Publication Date: 2016

Variant appearance in text: HSD17B3: 91G>A; V31I

PubMed Link: 27829003

Variant Present in the following documents:

• pone.0165878.s001.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: HSD17B3: 91G>A; V31I

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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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: rs2066480

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: HSD17B3: V31I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: HSD17B3: V31I; rs2066480

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Functional analyses of endometriosis-related polymorphisms in the estrogen synthesis and metabolism-related genes.

Plos One

Wang, Hsin-Shih HS; Wu, Hsien-Ming HM; Cheng, Bi-Hwa BH; Yen, Chih-Feng CF; Chang, Pi-Yueh PY; Chao, Angel A; Lee, Yun-Shien YS; Huang, Hsien-Da HD; Wang, Tzu-Hao TH

Publication Date: 2012

Variant appearance in text: rs2066480

PubMed Link: 23139742

Variant Present in the following documents:

• Main text
• pone.0047374.pdf

View BVdb publication page

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