Publications:

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Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications

Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD

Publication Date: 2023-02-11

Variant appearance in text: PRODH: 1322T>C; L441P; rs2904551

PubMed Link: 36774361

Variant Present in the following documents:

• 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1

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Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.

Genome Medicine

Yuan, Bo B; Schulze, Katharina V KV; Assia Batzir, Nurit N; Sinson, Jefferson J; Dai, Hongzheng H; Zhu, Wenmiao W; Bocanegra, Francia F; Fong, Chin-To CT; Holder, Jimmy J; Nguyen, Joanne J; Schaaf, Christian P CP; Yang, Yaping Y; Bi, Weimin W; Eng, Christine C; Shaw, Chad C; Lupski, James R JR; Liu, Pengfei P

Publication Date: 2022-09-30

Variant appearance in text: PRODH: 1322T>C; L441P

PubMed Link: 36180924

Variant Present in the following documents:

• 13073_2022_1113_MOESM1_ESM.xlsx, sheet 7

View BVdb publication page

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Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example.

The Application Of Clinical Genetics

Yang, Yuqi Y; Wang, Yu Y; Zhou, Lingna L; Long, Wei W; Yu, Bin B; Wang, Huaiyan H

Publication Date: 2022

Variant appearance in text: PRODH: 1322T>C; Leu441Pro

PubMed Link: 35611242

Variant Present in the following documents:

• Main text
• tacg-15-39.pdf

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: PRODH: 1322T>C

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sapp.pdf

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: PRODH: 1322T>C; Leu441Pro

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Bmc Medical Genetics

Chen, Xiang X; Yan, Kai K; Gao, Yanyan Y; Wang, Huijun H; Chen, Guoqiang G; Wu, Bingbing B; Qin, Qian Q; Yang, Lin L; Zhou, Wenhao W

Publication Date: 2019-05-30

Variant appearance in text: PRODH: 1322T>C; L441P

PubMed Link: 31146700

Variant Present in the following documents:

• 12881_2019_813_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: PRODH: 1322T>C; Leu441Pro

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Risk gene-set and pathways in 22q11.2 deletion-related schizophrenia: a genealogical molecular approach.

Translational Psychiatry

Michaelovsky, Elena E; Carmel, Miri M; Frisch, Amos A; Salmon-Divon, Mali M; Pasmanik-Chor, Metsada M; Weizman, Abraham A; Gothelf, Doron D

Publication Date: 2019-01-17

Variant appearance in text: rs2904551

PubMed Link: 30710087

Variant Present in the following documents:

• Main text
• 41398_2018_Article_354.pdf

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: PRODH: 1322T>C; Leu441Pro; rs2904551

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Truty, Rebecca R; Paul, Joshua J; Kennemer, Michael M; Lincoln, Stephen E SE; Olivares, Eric E; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-01

Variant appearance in text: PRODH: 1322T>C

PubMed Link: 29895855

Variant Present in the following documents:

• 41436_2018_33_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Proline oxidase controls proline, glutamate, and glutamine cellular concentrations in a U87 glioblastoma cell line.

Plos One

Cappelletti, Pamela P; Tallarita, Elena E; Rabattoni, Valentina V; Campomenosi, Paola P; Sacchi, Silvia S; Pollegioni, Loredano L

Publication Date: 2018

Variant appearance in text: PRODH: Leu441Pro

PubMed Link: 29694413

Variant Present in the following documents:

• Main text
• pone.0196283.pdf

View BVdb publication page

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Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.

Oncotarget

Yu, Yan Y; Lu, Bingjian B; Lu, Weiguo W; Li, Shuang S; Li, Xiuqin X; Wang, Xinyu X; Wan, Xiaoyun X; Chen, Yaxia Y; Feng, Suwen S; Jia, Yao Y; Yang, Ru R; Tang, Fangxu F; Li, Xiong X; Zhang, Shulan S; Wang, Xinyan X; Wei, Heng H; Peng, Zhilan Z; Lu, Lin L; Zhong, Huizhen H; Zhao, Linjun L; Huang, Zhangqian Z; Lin, Lin L; Shen, Weihong W; Lu, Yan Y; Cao, Zhu Z; Zou, Jian J; Ma, Yuejiang Y; Chen, Xiaojing X; Tian, Qifang Q; Lu, Shiming S; Liu, Pengyuan P; Ma, Ding D; Xie, Xing X; Cheng, Xiaodong X

Publication Date: 2017-09-26

Variant appearance in text: PRODH: L441P

PubMed Link: 29088863

Variant Present in the following documents:

• oncotarget-08-75264-s003.xls, sheet 1

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Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation.

Scientific Reports

Cho, Yangrae Y; Lee, Chul-Ho CH; Jeong, Eun-Goo EG; Kim, Min-Ho MH; Hong, Jong Hui JH; Ko, Younhee Y; Lee, Bomnun B; Yun, Gilly G; Kim, Byong Joon BJ; Jung, Jongcheol J; Jung, Jongsun J; Lee, Jin-Sung JS

Publication Date: 2017-08-29

Variant appearance in text: PRODH: Leu441Pro

PubMed Link: 28851938

Variant Present in the following documents:

• Main text
• 41598_2017_9247_MOESM4_ESM.xls, sheet 1
• 41598_2017_9247_MOESM3_ESM.xls, sheet 1
• 41598_2017_Article_9247.pdf

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: rs2904551

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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The Qatar genome: a population-specific tool for precision medicine in the Middle East.

Human Genome Variation

Fakhro, Khalid A KA; Staudt, Michelle R MR; Ramstetter, Monica Denise MD; Robay, Amal A; Malek, Joel A JA; Badii, Ramin R; Al-Marri, Ajayeb Al-Nabet AA; Abi Khalil, Charbel C; Al-Shakaki, Alya A; Chidiac, Omar O; Stadler, Dora D; Zirie, Mahmoud M; Jayyousi, Amin A; Salit, Jacqueline J; Mezey, Jason G JG; Crystal, Ronald G RG; Rodriguez-Flores, Juan L JL

Publication Date: 2016

Variant appearance in text: rs2904551

PubMed Link: 27408750

Variant Present in the following documents:

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: rs2904551

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs2904551

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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: PRODH: L441P; rs2904551

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Biochemical and clinical features of hereditary hyperprolinemia.

Pediatrics International : Official Journal Of The Japan Pediatric Society

Mitsubuchi, Hiroshi H; Nakamura, Kimitoshi K; Matsumoto, Shirou S; Endo, Fumio F

Publication Date: 2014-08

Variant appearance in text: PRODH: L441P

PubMed Link: 24931297

Variant Present in the following documents:

• Main text
• ped0056-0492.pdf

View BVdb publication page

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PRODH polymorphisms, cortical volumes and thickness in schizophrenia.

Plos One

Ota, Vanessa K VK; Bellucco, Fernanda T FT; Gadelha, Ary A; Santoro, Marcos L ML; Noto, Cristiano C; Christofolini, Denise M DM; Assunção, Idaiane B IB; Yamada, Karen M KM; Ribeiro-dos-Santos, Andrea K AK; Santos, Sidney S; Mari, Jair J JJ; Smith, Marília A C MA; Melaragno, Maria I MI; Bressan, Rodrigo A RA; Sato, João R JR; Jackowski, Andrea P AP; Belangero, Sintia I SI

Publication Date: 2014

Variant appearance in text: PRODH: L441P; rs2904551

PubMed Link: 24498354

Variant Present in the following documents:

• Main text
• pone.0087686.pdf

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: PRODH: L441P

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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Functional genomics and SNP analysis of human genes encoding proline metabolic enzymes.

Amino Acids

Hu, Chien-An A CA; Bart Williams, D D; Zhaorigetu, Siqin S; Khalil, Shadi S; Wan, Guanghua G; Valle, David D

Publication Date: 2008-11

Variant appearance in text: PRODH1: L441P

PubMed Link: 18506409

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional consequences of PRODH missense mutations.

American Journal Of Human Genetics

Bender, Hans-Ulrich HU; Almashanu, Shlomo S; Steel, Gary G; Hu, Chien-An CA; Lin, Wei-Wen WW; Willis, Alecia A; Pulver, Ann A; Valle, David D

Publication Date: 2005-03

Variant appearance in text: PRODH: L441P

PubMed Link: 15662599

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structures of the Escherichia coli PutA proline dehydrogenase domain in complex with competitive inhibitors.

Biochemistry

Zhang, Min M; White, Tommi A TA; Schuermann, Jonathan P JP; Baban, Berevan A BA; Becker, Donald F DF; Tanner, John J JJ

Publication Date: 2004-10-05

Variant appearance in text: PRODH: L441P

PubMed Link: 15449943

Variant Present in the following documents:

• Main text

View BVdb publication page

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