Publications:

---

Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: ALDH5A1: H180Y; rs2760118

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

---

A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: ALDH5A1: H180Y

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

---

Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: ALDH5A1: H180Y; rs2760118

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

---

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: ALDH5A1: H180Y

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

---

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: ALDH5A1: H180Y; rs2760118

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: ALDH5A1: 538C>T; His180Tyr

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

---

SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: ALDH5A1: H180Y

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: ALDH5A1: H180Y; rs2760118

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 9

View BVdb publication page

---

Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: ALDH5A1: H180Y; rs2760118

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 9
• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 3

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: ALDH5A1: H180Y; rs2760118

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: ALDH5A1: 538C>T; H180Y; rs2760118

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

---

Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances.

Frontiers In Genetics

Cerminara, Maria M; Spirito, Giovanni G; Pisciotta, Livia L; Squillario, Margherita M; Servetti, Martina M; Divizia, Maria Teresa MT; Lerone, Margherita M; Berloco, Bianca B; Boeri, Silvia S; Nobili, Lino L; Vozzi, Diego D; Sanges, Remo R; Gustincich, Stefano S; Puliti, Aldamaria A

Publication Date: 2021

Variant appearance in text: ALDH5A1: 538C>T; H180Y; rs2760118

PubMed Link: 33679889

Variant Present in the following documents:

• Main text
• fgene-12-625564.pdf

View BVdb publication page

---

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: ALDH5A1: 538C>T; H180Y; rs2760118

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

---

Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell

Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,

Publication Date: 2020-11-25

Variant appearance in text: ALDH5A1: H180Y

PubMed Link: 33212010

Variant Present in the following documents:

• NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5

View BVdb publication page

---

Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1.

International Journal Of Molecular Sciences

Brennenstuhl, Heiko H; Didiasova, Miroslava M; Assmann, Birgit B; Bertoldi, Mariarita M; Molla, Gianluca G; Jung-Klawitter, Sabine S; Kuseyri Hübschmann, Oya O; Schröter, Julian J; Opladen, Thomas T; Tikkanen, Ritva R

Publication Date: 2020-11-13

Variant appearance in text: ALDH5A1: 538C>T

PubMed Link: 33203024

Variant Present in the following documents:

• Main text
• ijms-21-08578.pdf

View BVdb publication page

---

SSADH Variants Increase Susceptibility of U87 Cells to Mitochondrial Pro-Oxidant Insult.

International Journal Of Molecular Sciences

Menduti, Giovanna G; Vitaliti, Alessandra A; Capo, Concetta Rosa CR; Lettieri-Barbato, Daniele D; Aquilano, Katia K; Malaspina, Patrizia P; Rossi, Luisa L

Publication Date: 2020-06-19

Variant appearance in text: SSADH: 538C>T

PubMed Link: 32575506

Variant Present in the following documents:

• Main text
• ijms-21-04374.pdf

View BVdb publication page

---

Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: ALDH5A1: H180Y; rs2760118

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

---

Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: ALDH5A1: H180Y

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM4_ESM.xlsx, sheet 1
• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

---

Succinic Semialdehyde Dehydrogenase Deficiency: An Update.

Cells

Didiášová, Miroslava M; Banning, Antje A; Brennenstuhl, Heiko H; Jung-Klawitter, Sabine S; Cinquemani, Claudio C; Opladen, Thomas T; Tikkanen, Ritva R

Publication Date: 2020-02-19

Variant appearance in text: SSADH: His180Tyr; rs2760118

PubMed Link: 32093054

Variant Present in the following documents:

• Main text
• cells-09-00477.pdf

View BVdb publication page

---

The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: ALDH5A1: 538C>T; His180Tyr

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 10
• Supplementary_Data2.xlsx, sheet 2
• Supplementary_Data2.xlsx, sheet 3
• Supplementary_Data2.xlsx, sheet 4
• Supplementary_Data2.xlsx, sheet 1
• Supplementary_Data2.xlsx, sheet 9

View BVdb publication page

---

PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: ALDH5A1: 538C>T; His180Tyr; rs2760118

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

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: ALDH5A1: H180Y; rs2760118

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

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: ALDH5A1: 538C>T; His180Tyr

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

---

A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: ALDH5A1: H180Y; rs2760118

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: ALDH5A1: 538C>T; H180Y; rs2760118

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7

View BVdb publication page

---

Pharmacogenetics of Opioid Use Disorder Treatment.

Cns Drugs

Crist, Richard C RC; Clarke, Toni-Kim TK; Berrettini, Wade H WH

Publication Date: 2018-04

Variant appearance in text: rs2760118

PubMed Link: 29623639

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.

Genome Research

Bhattacharya, Sanchita S; Li, Jian J; Sockell, Alexandra A; Kan, Matthew J MJ; Bava, Felice A FA; Chen, Shann-Ching SC; Ávila-Arcos, María C MC; Ji, Xuhuai X; Smith, Emery E; Asadi, Narges B NB; Lachman, Ralph S RS; Lam, Hugo Y K HYK; Bustamante, Carlos D CD; Butte, Atul J AJ; Nolan, Garry P GP

Publication Date: 2018-04

Variant appearance in text: ALDH5A1: H180Y; rs2760118

PubMed Link: 29567674

Variant Present in the following documents:

• supp_gr.223693.117_Supplemental_Table_S6_.xls, sheet 1

View BVdb publication page

---

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Bmc Medical Genomics

Calender, Alain A; Rollat Farnier, Pierre Antoine PA; Buisson, Adrien A; Pinson, Stéphane S; Bentaher, Abderrazzaq A; Lebecque, Serge S; Corvol, Harriet H; Abou Taam, Rola R; Houdouin, Véronique V; Bardel, Claire C; Roy, Pascal P; Devouassoux, Gilles G; Cottin, Vincent V; Seve, Pascal P; Bernaudin, Jean-François JF; Lim, Clarice X CX; Weichhart, Thomas T; Valeyre, Dominique D; Pacheco, Yves Y; Clement, Annick A; Nathan, Nadia N; ,

Publication Date: 2018-03-06

Variant appearance in text: ALDH5A1: 538C>T; His180Tyr; rs2760118

PubMed Link: 29510755

Variant Present in the following documents:

• 12920_2018_338_MOESM6_ESM.xlsx, sheet 2

View BVdb publication page

---

Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: ALDH5A1: H180Y; rs2760118

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

View BVdb publication page

---

Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism.

Neurochemistry International

Malaspina, P P; Roullet, J-B JB; Pearl, P L PL; Ainslie, G R GR; Vogel, K R KR; Gibson, K M KM

Publication Date: 2016-10

Variant appearance in text: ALDH5A1: 538C>T; rs2760118

PubMed Link: 27311541

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature

Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,

Publication Date: 2016-06-02

Variant appearance in text: ALDH5A1: H180Y; rs2760118

PubMed Link: 27251275

Variant Present in the following documents:

• NIHMS778057-supplement-supp_table5.xlsx, sheet 2

View BVdb publication page

---

PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology

Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J

Publication Date: 2016-05

Variant appearance in text: ALDH5A1: H180Y

PubMed Link: 27224906

Variant Present in the following documents:

• pcbi.1004962.s005.xlsx, sheet 1

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: rs2760118

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: ALDH5A1: H180Y

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

---

Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: ALDH5A1: H180Y; rs2760118

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

---

Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: ALDH5A1: H180Y; rs2760118

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications

Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES

Publication Date: 2015-04-09

Variant appearance in text: ALDH5A1: H180Y

PubMed Link: 25855536

Variant Present in the following documents:

• ncomms7744-s2.xlsx, sheet 1

View BVdb publication page

---

Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs2760118

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s2.xls, sheet 1

View BVdb publication page

---

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: ALDH5A1: H180Y; rs2760118

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: ALDH5A1: H180Y; rs2760118

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 23
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 5
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 25
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 24
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 8
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 11

View BVdb publication page

---

The Genetics, Neurogenetics and Pharmacogenetics of Addiction.

Current Behavioral Neuroscience Reports

Demers, Catherine H CH; Bogdan, Ryan R; Agrawal, Arpana A

Publication Date: 2014-03-01

Variant appearance in text: rs2760118

PubMed Link: 25045619

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: ALDH5A1: H180Y; rs2760118

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

---

The Promises and Pitfalls of Genoeconomics*

Annual Review Of Economics

Benjamin, Daniel J DJ; Cesarini, David D; Chabris, Christopher F CF; Glaeser, Edward L EL; Laibson, David I DI; Guðnason, Vilmundur V; Harris, Tamara B TB; Launer, Lenore J LJ; Purcell, Shaun S; Smith, Albert Vernon AV; Johannesson, Magnus M; Magnusson, Patrik K E PK; Beauchamp, Jonathan P JP; Christakis, Nicholas A NA; Atwood, Craig S CS; Hebert, Benjamin B; Freese, Jeremy J; Hauser, Robert M RM; Hauser, Taissa S TS; Grankvist, Alexander A; Hultman, Christina M CM; Lichtenstein, Paul P

Publication Date: 2012-07-01

Variant appearance in text: rs2760118

PubMed Link: 23482589

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Most reported genetic associations with general intelligence are probably false positives.

Psychological Science

Chabris, Christopher F CF; Hebert, Benjamin M BM; Benjamin, Daniel J DJ; Beauchamp, Jonathan J; Cesarini, David D; van der Loos, Matthijs M; Johannesson, Magnus M; Magnusson, Patrik K E PK; Lichtenstein, Paul P; Atwood, Craig S CS; Freese, Jeremy J; Hauser, Taissa S TS; Hauser, Robert M RM; Christakis, Nicholas N; Laibson, David D

Publication Date: 2012

Variant appearance in text: rs2760118

PubMed Link: 23012269

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Multigene interactions and the prediction of depression in the Wisconsin Longitudinal Study.

Bmj Open

Roetker, Nicholas S NS; Yonker, James A JA; Lee, Chee C; Chang, Vicky V; Basson, Jacob J JJ; Roan, Carol L CL; Hauser, Taissa S TS; Hauser, Robert M RM; Atwood, Craig S CS

Publication Date: 2012

Variant appearance in text: rs2760118

PubMed Link: 22761283

Variant Present in the following documents:

• bmjopen-2012-000944-s1.pdf
• bmjopen-2012-000944.draft_revisions.pdf

View BVdb publication page

---

The ATXN1 and TRIM31 genes are related to intelligence in an ADHD background: evidence from a large collaborative study totaling 4,963 subjects.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Rizzi, Thais S TS; Arias-Vasquez, Alejandro A; Rommelse, Nanda N; Kuntsi, Jonna J; Anney, Richard R; Asherson, Philip P; Buitelaar, Jan J; Banaschewski, Tobias T; Ebstein, Richard R; Ruano, Dina D; Van der Sluis, Sophie S; Markunas, Christina A CA; Garrett, Melanie E ME; Ashley-Koch, Allison E AE; Kollins, Scott H SH; Anastopoulos, Arthur D AD; Hansell, Narelle K NK; Wright, Margaret J MJ; Montgomery, Grant W GW; Martin, Nicholas G NG; Harris, Sarah E SE; Davies, Gail G; Tenesa, Albert A; Porteous, David J DJ; Starr, John M JM; Deary, Ian J IJ; St Pourcain, Beate B; Davey Smith, George G; Timpson, Nicholas J NJ; Evans, David M DM; Gill, Michael M; Miranda, Ana A; Mulas, Fernando F; Oades, Robert D RD; Roeyers, Herbert H; Rothenberger, Aribert A; Sergeant, Joseph J; Sonuga-Barke, Edmund E; Steinhausen, Hans Christoph HC; Taylor, Eric E; Faraone, Stephen V SV; Franke, Barbara B; Posthuma, Danielle D

Publication Date: 2011-03

Variant appearance in text: rs2760118

PubMed Link: 21302343

Variant Present in the following documents:

• Main text
• ajmg0156-0145.pdf

View BVdb publication page

---

Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance.

Antioxidants & Redox Signaling

Kim, Kyung-Jin KJ; Pearl, Phillip L PL; Jensen, Kimmo K; Snead, O Carter OC; Malaspina, Patrizia P; Jakobs, Cornelis C; Gibson, K Michael KM

Publication Date: 2011-08-01

Variant appearance in text: SSADH: 538C>T

PubMed Link: 20973619

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The X-ray crystal structure of Escherichia coli succinic semialdehyde dehydrogenase; structural insights into NADP+/enzyme interactions.

Plos One

Langendorf, Christopher G CG; Key, Trevor L G TL; Fenalti, Gustavo G; Kan, Wan-Ting WT; Buckle, Ashley M AM; Caradoc-Davies, Tom T; Tuck, Kellie L KL; Law, Ruby H P RH; Whisstock, James C JC

Publication Date: 2010-02-18

Variant appearance in text: SSADH: H180Y

PubMed Link: 20174634

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency.

Human Genomics

Malaspina, Patrizia P; Picklo, Matthew J MJ; Jakobs, C C; Snead, O Carter OC; Gibson, K Michael KM

Publication Date: 2009-01

Variant appearance in text: ALDH5A1: 538C>T; rs2760118

PubMed Link: 19164088

Variant Present in the following documents:

• Main text
• 1479-7364-3-2-106.pdf

View BVdb publication page

---

A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States.

American Journal Of Human Genetics

Francks, Clyde C; Paracchini, Silvia S; Smith, Shelley D SD; Richardson, Alex J AJ; Scerri, Tom S TS; Cardon, Lon R LR; Marlow, Angela J AJ; MacPhie, I Laurence IL; Walter, Janet J; Pennington, Bruce F BF; Fisher, Simon E SE; Olson, Richard K RK; DeFries, John C JC; Stein, John F JF; Monaco, Anthony P AP

Publication Date: 2004-12

Variant appearance in text: rs2760118

PubMed Link: 15514892

Variant Present in the following documents:

• Main text

View BVdb publication page

---