Publications:

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Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders.

Genes

Senarathne, Udara D UD; Indika, Neluwa-Liyanage R NR; Jezela-Stanek, Aleksandra A; Ciara, Elżbieta E; Frye, Richard E RE; Chen, Cliff C; Stepien, Karolina M KM

Publication Date: 2023-03-27

Variant appearance in text: ACADS: 511C>T

PubMed Link: 37107561

Variant Present in the following documents:

• genes-14-00803.pdf

View BVdb publication page

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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: ACADS: R171W

PubMed Link: 36928921

Variant Present in the following documents:

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

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs1800556

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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An explainable model of host genetic interactions linked to COVID-19 severity.

Communications Biology

Onoja, Anthony A; Picchiotti, Nicola N; Fallerini, Chiara C; Baldassarri, Margherita M; Fava, Francesca F; , ; Colombo, Francesca F; Chiaromonte, Francesca F; Renieri, Alessandra A; Furini, Simone S; Raimondi, Francesco F

Publication Date: 2022-10-26

Variant appearance in text: ACADS: R171W; rs1800556

PubMed Link: 36289370

Variant Present in the following documents:

• 42003_2022_4073_MOESM4_ESM.xlsx, sheet 1
• 42003_2022_4073_MOESM4_ESM.xlsx, sheet 12

View BVdb publication page

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

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

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: ACADS: 511C>T; Arg171Trp; rs1800556

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

View BVdb publication page

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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: ACADS: R171W; rs1800556

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: ACADS: R171W; rs1800556

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.

Biomolecules

Marra, Federica F; Lunetti, Paola P; Curcio, Rosita R; Lasorsa, Francesco Massimo FM; Capobianco, Loredana L; Porcelli, Vito V; Dolce, Vincenza V; Fiermonte, Giuseppe G; Scarcia, Pasquale P

Publication Date: 2021-11-04

Variant appearance in text: SCAD: R171W

PubMed Link: 34827632

Variant Present in the following documents:

• Main text
• biomolecules-11-01633.pdf

View BVdb publication page

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Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal Of Zhejiang University. Medical Sciences

Yang, Chiju C; Shi, Caihong C; Zhou, Cheng C; Wan, Qiuhua Q; Zhou, Yanbin Y; Chen, Xigui X; Jin, Xianlian X; Huang, Chenggang C; Xu, Peng P

Publication Date: 2021-08-25

Variant appearance in text: ACADS: 511C>T

PubMed Link: 34704412

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: ACADS: R171W; rs1800556

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3

View BVdb publication page

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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: ACADS: R171W; rs1800556

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3

View BVdb publication page

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Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population.

Frontiers In Genetics

Tan, Jianqiang J; Chen, Dayu D; Chang, Rongni R; Pan, Lizhen L; Yang, Jinling J; Yuan, Dejian D; Huang, Lihua L; Yan, Tizhen T; Ning, Haiping H; Wei, Jiangyan J; Cai, Ren R

Publication Date: 2021

Variant appearance in text: ACADS: 511C>T

PubMed Link: 34394177

Variant Present in the following documents:

• Main text
• fgene-12-631688.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: rs1800556

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?

Journal Of Inherited Metabolic Disease

Fogh, Sarah S; Dipace, Graziana G; Bie, Anne A; Veiga-da-Cunha, Maria M; Hansen, Jakob J; Kjeldsen, Margrethe M; Mosegaard, Signe S; Ribes, Antonia A; Gregersen, Niels N; Aagaard, Lars L; Van Schaftingen, Emile E; Olsen, Rikke K J RKJ

Publication Date: 2021-09

Variant appearance in text: ACADS: 511C>T; rs1800556

PubMed Link: 33973257

Variant Present in the following documents:

• Main text

View BVdb publication page

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Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency.

International Journal Of Neonatal Screening

Messina, MariaAnna M; Arena, Alessia A; Fiumara, Agata A; Iacobacci, Riccardo R; Meli, Concetta C; Raudino, Federica F

Publication Date: 2020-07-28

Variant appearance in text: SCAD: 511C>T

PubMed Link: 33239584

Variant Present in the following documents:

• Main text
• IJNS-06-00058.pdf

View BVdb publication page

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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: ACADS: R171W

PubMed Link: 33212010

Variant Present in the following documents:

• NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5

View BVdb publication page

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Reference exome data for a Northern Brazilian population.

Scientific Data

Weeks, Alexia L AL; Francis, Richard W RW; Neri, Joao I C F JICF; Costa, Nathaly M C NMC; Arrais, Nivea M R NMR; Lassmann, Timo T; Blackwell, Jenefer M JM; Jeronimo, Selma M B SMB

Publication Date: 2020-10-21

Variant appearance in text: ACADS: 511C>T; Arg171Trp; rs1800556

PubMed Link: 33087711

Variant Present in the following documents:

• 41597_2020_703_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing.

International Journal Of Neonatal Screening

Adhikari, Aashish N AN; Currier, Robert J RJ; Tang, Hao H; Turgeon, Coleman T CT; Nussbaum, Robert L RL; Srinivasan, Rajgopal R; Sunderam, Uma U; Kwok, Pui-Yan PY; Brenner, Steven E SE; Gavrilov, Dimitar D; Puck, Jennifer M JM; Gallagher, Renata R

Publication Date: 2020-06

Variant appearance in text: ACADS: 511C>T; rs1800556

PubMed Link: 32802992

Variant Present in the following documents:

• Main text
• IJNS-06-00041.pdf
• IJNS-06-00041-s001.pdf

View BVdb publication page

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Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.

Frontiers In Genetics

Wang, Ting T; Ma, Jun J; Zhang, Qin Q; Gao, Ang A; Wang, Qi Q; Li, Hong H; Xiang, Jingjing J; Wang, Benjing B

Publication Date: 2019

Variant appearance in text: ACADS: 511C>T

PubMed Link: 31737040

Variant Present in the following documents:

• Main text
• fgene-10-01052.pdf

View BVdb publication page

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New Ratios for Performance Improvement for Identifying Acyl-CoA Dehydrogenase Deficiencies in Expanded Newborn Screening: A Retrospective Study.

Frontiers In Genetics

Wang, Benjing B; Zhang, Qin Q; Gao, Ang A; Wang, Qi Q; Ma, Jun J; Li, Hong H; Wang, Ting T

Publication Date: 2019

Variant appearance in text: ACADS: 511C>T

PubMed Link: 31620161

Variant Present in the following documents:

• Main text
• fgene-10-00811.pdf

View BVdb publication page

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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: ACADS: R171W; rs1800556

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs1800556

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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Fatty acid oxidation disorders.

Annals Of Translational Medicine

Merritt, J Lawrence JL; Norris, Marie M; Kanungo, Shibani S

Publication Date: 2018-12

Variant appearance in text: ACADS: 511C>T

PubMed Link: 30740404

Variant Present in the following documents:

• Main text

View BVdb publication page

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Updated recommendation for the benign stand-alone ACMG/AMP criterion.

Human Mutation

Ghosh, Rajarshi R; Harrison, Steven M SM; Rehm, Heidi L HL; Plon, Sharon E SE; Biesecker, Leslie G LG; ,

Publication Date: 2018-11

Variant appearance in text: ACADS: 511C>T; Arg171Trp

PubMed Link: 30311383

Variant Present in the following documents:

• Main text

View BVdb publication page

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An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.

Bmc Medical Genetics

Lisyová, Jana J; Chandoga, Ján J; Jungová, Petra P; Repiský, Marcel M; Knapková, Mária M; Machková, Martina M; Dluholucký, Svetozár S; Behúlová, Darina D; Šaligová, Jana J; Potočňáková, Ľudmila Ľ; Lysinová, Miroslava M; Böhmer, Daniel D

Publication Date: 2018-04-20

Variant appearance in text: SCAD: 511C>T; rs1800556

PubMed Link: 29678161

Variant Present in the following documents:

• Main text
• 12881_2018_Article_566.pdf

View BVdb publication page

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Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults.

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

Perkins, Bradley A BA; Caskey, C Thomas CT; Brar, Pamila P; Dec, Eric E; Karow, David S DS; Kahn, Andrew M AM; Hou, Ying-Chen Claire YC; Shah, Naisha N; Boeldt, Debbie D; Coughlin, Erin E; Hands, Gabby G; Lavrenko, Victor V; Yu, James J; Procko, Andrea A; Appis, Julia J; Dale, Anders M AM; Guo, Lining L; Jönsson, Thomas J TJ; Wittmann, Bryan M BM; Bartha, Istvan I; Ramakrishnan, Smriti S; Bernal, Axel A; Brewer, James B JB; Brewerton, Suzanne S; Biggs, William H WH; Turpaz, Yaron Y; Venter, J Craig JC

Publication Date: 2018-04-03

Variant appearance in text: ACADS: 511C>T

PubMed Link: 29555771

Variant Present in the following documents:

• pnas.201706096SI.pdf

View BVdb publication page

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Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Frontiers In Pharmacology

Cornelius, Albert A; Foley, Jessica J; Bond, Jeffrey J; Nagulapally, Abhinav B AB; Steinbrecher, Julie J; Hendricks, William P D WPD; Rich, Maria M; Yendrembam, Sangeeta S; Bergendahl, Genevieve G; Trent, Jeffrey M JM; Sholler, Giselle S GS

Publication Date: 2017

Variant appearance in text: ACADS: R171W; rs1800556

PubMed Link: 28993730

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: ACADS: 511C>T; Arg171Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

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

Tarailo-Graovac, Maja M; Zhu, Jing Yun Alice JYA; Matthews, Allison A; van Karnebeek, Clara D M CDM; Wasserman, Wyeth W WW

Publication Date: 2017-12

Variant appearance in text: rs1800556

PubMed Link: 28471432

Variant Present in the following documents:

• gim201750x2.xlsx, sheet 2

View BVdb publication page

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Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review.

Korean Journal Of Pediatrics

An, Se Jin SJ; Kim, Sook Za SZ; Kim, Gu Hwan GH; Yoo, Han Wook HW; Lim, Han Hyuk HH

Publication Date: 2016-11

Variant appearance in text: ACADS: 511C>T

PubMed Link: 28018444

Variant Present in the following documents:

• Main text
• kjped-59-S45.pdf

View BVdb publication page

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[An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics

Tan, Jian-Qiang JQ; Chen, Da-Yu DY; Li, Zhe-Tao ZT; Huang, Ji-Wei JW; Yan, Ti-Zhen TZ; Cai, Ren R

Publication Date: 2016-10

Variant appearance in text: ACADS: 511C>T

PubMed Link: 27751224

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of protein-coding genetic variation in 60,706 humans.

Nature

Lek, Monkol M; Karczewski, Konrad J KJ; Minikel, Eric V EV; Samocha, Kaitlin E KE; Banks, Eric E; Fennell, Timothy T; O'Donnell-Luria, Anne H AH; Ware, James S JS; Hill, Andrew J AJ; Cummings, Beryl B BB; Tukiainen, Taru T; Birnbaum, Daniel P DP; Kosmicki, Jack A JA; Duncan, Laramie E LE; Estrada, Karol K; Zhao, Fengmei F; Zou, James J; Pierce-Hoffman, Emma E; Berghout, Joanne J; Cooper, David N DN; Deflaux, Nicole N; DePristo, Mark M; Do, Ron R; Flannick, Jason J; Fromer, Menachem M; Gauthier, Laura L; Goldstein, Jackie J; Gupta, Namrata N; Howrigan, Daniel D; Kiezun, Adam A; Kurki, Mitja I MI; Moonshine, Ami Levy AL; Natarajan, Pradeep P; Orozco, Lorena L; Peloso, Gina M GM; Poplin, Ryan R; Rivas, Manuel A MA; Ruano-Rubio, Valentin V; Rose, Samuel A SA; Ruderfer, Douglas M DM; Shakir, Khalid K; Stenson, Peter D PD; Stevens, Christine C; Thomas, Brett P BP; Tiao, Grace G; Tusie-Luna, Maria T MT; Weisburd, Ben B; Won, Hong-Hee HH; Yu, Dongmei D; Altshuler, David M DM; Ardissino, Diego D; Boehnke, Michael M; Danesh, John J; Donnelly, Stacey S; Elosua, Roberto R; Florez, Jose C JC; Gabriel, Stacey B SB; Getz, Gad G; Glatt, Stephen J SJ; Hultman, Christina M CM; Kathiresan, Sekar S; Laakso, Markku M; McCarroll, Steven S; McCarthy, Mark I MI; McGovern, Dermot D; McPherson, Ruth R; Neale, Benjamin M BM; Palotie, Aarno A; Purcell, Shaun M SM; Saleheen, Danish D; Scharf, Jeremiah M JM; Sklar, Pamela P; Sullivan, Patrick F PF; Tuomilehto, Jaakko J; Tsuang, Ming T MT; Watkins, Hugh C HC; Wilson, James G JG; Daly, Mark J MJ; MacArthur, Daniel G DG; ,

Publication Date: 2016-08-18

Variant appearance in text: SCAD: R171W

PubMed Link: 27535533

Variant Present in the following documents:

• NIHMS798561-supplement-supp_table20.xlsx, sheet 1

View BVdb publication page

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Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.

Bba Clinical

Tonin, Rodolfo R; Caciotti, Anna A; Funghini, Silvia S; Pasquini, Elisabetta E; Mooney, Sean D SD; Cai, Binghuang B; Proncopio, Elena E; Donati, Maria Alice MA; Baronio, Federico F; Bettocchi, Ilaria I; Cassio, Alessandra A; Biasucci, Giacomo G; Bordugo, Andrea A; la Marca, Giancarlo G; Guerrini, Renzo R; Morrone, Amelia A

Publication Date: 2016-06

Variant appearance in text: ACADS: Arg171Trp

PubMed Link: 27051597

Variant Present in the following documents:

• Main text
• main.pdf

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: rs1800556

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: ACADS: R171W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Bmc Genetics

Maciąg, Anna A; Villa, Francesco F; Ferrario, Anna A; Spinelli, Chiara Carmela CC; Carrizzo, Albino A; Malovini, Alberto A; Torella, Annalaura A; Montenero, Chiara C; Parisi, Attilio A; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale Sandro AS; Puca, Annibale Alessandro AA

Publication Date: 2015-02-11

Variant appearance in text: ACADS: R171W; rs1800556

PubMed Link: 25888430

Variant Present in the following documents:

• 12863_2015_177_MOESM1_ESM.xls, sheet 1

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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: ACADS: R171W; rs1800556

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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Disease variants in genomes of 44 centenarians.

Molecular Genetics & Genomic Medicine

Freudenberg-Hua, Yun Y; Freudenberg, Jan J; Vacic, Vladimir V; Abhyankar, Avinash A; Emde, Anne-Katrin AK; Ben-Avraham, Danny D; Barzilai, Nir N; Oschwald, Dayna D; Christen, Erika E; Koppel, Jeremy J; Greenwald, Blaine B; Darnell, Robert B RB; Germer, Soren S; Atzmon, Gil G; Davies, Peter P

Publication Date: 2014-09

Variant appearance in text: ACADS: R171W; rs1800556

PubMed Link: 25333069

Variant Present in the following documents:

• Main text
• mgg30002-0438-SD2.pdf
• mgg30002-0438.pdf

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Metabolic heritability at birth: implications for chronic disease research.

Human Genetics

Ryckman, Kelli K KK; Smith, Caitlin J CJ; Jelliffe-Pawlowski, Laura L LL; Momany, Allison M AM; Berberich, Stanton L SL; Murray, Jeffrey C JC

Publication Date: 2014-08

Variant appearance in text: rs1800556

PubMed Link: 24850141

Variant Present in the following documents:

• Main text

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Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.

Developmental Disabilities Research Reviews

Waisbren, Susan E SE; Landau, Yuval Y; Wilson, Jenna J; Vockley, Jerry J

Publication Date: 2013

Variant appearance in text: SCAD: 511C>T

PubMed Link: 23798014

Variant Present in the following documents:

• Main text

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Vulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidants.

Plos One

Zolkipli, Zarazuela Z; Pedersen, Christina B CB; Lamhonwah, Anne-Marie AM; Gregersen, Niels N; Tein, Ingrid I

Publication Date: 2011-04-01

Variant appearance in text: ACADS: 511C>T

PubMed Link: 21483766

Variant Present in the following documents:

• Main text

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Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.

Journal Of Inherited Metabolic Disease

van Maldegem, Bianca T BT; Wanders, Ronald J A RJ; Wijburg, Frits A FA

Publication Date: 2010-10

Variant appearance in text: ACADS: 511C>T

PubMed Link: 20429031

Variant Present in the following documents:

• Main text

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Genetic variation in an individual human exome.

Plos Genetics

Ng, Pauline C PC; Levy, Samuel S; Huang, Jiaqi J; Stockwell, Timothy B TB; Walenz, Brian P BP; Li, Kelvin K; Axelrod, Nelson N; Busam, Dana A DA; Strausberg, Robert L RL; Venter, J Craig JC

Publication Date: 2008-08-15

Variant appearance in text: ACADS: R171W; rs1800556

PubMed Link: 18704161

Variant Present in the following documents:

• Main text
• pgen.1000160.pdf

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