Publications:

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Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.

Nature Metabolism

Forny, Patrick P; Bonilla, Ximena X; Lamparter, David D; Shao, Wenguang W; Plessl, Tanja T; Frei, Caroline C; Bingisser, Anna A; Goetze, Sandra S; van Drogen, Audrey A; Harshman, Keith K; Pedrioli, Patrick G A PGA; Howald, Cedric C; Poms, Martin M; Traversi, Florian F; Bürer, Céline C; Cherkaoui, Sarah S; Morscher, Raphael J RJ; Simmons, Luke L; Forny, Merima M; Xenarios, Ioannis I; Aebersold, Ruedi R; Zamboni, Nicola N; Rätsch, Gunnar G; Dermitzakis, Emmanouil T ET; Wollscheid, Bernd B; Baumgartner, Matthias R MR; Froese, D Sean DS

Publication Date: 2023-01

Variant appearance in text: MMUT: R369H

PubMed Link: 36717752

Variant Present in the following documents:

• 42255_2022_720_MOESM1_ESM.pdf
• 42255_2022_Article_720.pdf

View BVdb publication page

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Systemic gene therapy for methylmalonic acidemia using the novel adeno-associated viral vector 44.9.

Molecular Therapy. Methods & Clinical Development

Chandler, Randy J RJ; Di Pasquale, Giovanni G; Sloan, Jennifer L JL; McCoy, Samantha S; Hubbard, Brandon T BT; Kilts, Tina M TM; Manoli, Irini I; Chiorini, John A JA; Venditti, Charles P CP

Publication Date: 2022-12-08

Variant appearance in text: MMUT: 1106G>A; Arg369His

PubMed Link: 36186952

Variant Present in the following documents:

• Main text
• main.pdf
• mmc2.pdf

View BVdb publication page

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Impaired Function of a Rare Mutation in the <i>MMUT</i> Gene Causes Methylmalonic Acidemia in a Chinese Patient.

Genetics Research

Dai, Siyu S; Yang, Yanting Y; Li, Yaqian Y; Liu, Hongqian H

Publication Date: 2022

Variant appearance in text: MUT: 1106G>A

PubMed Link: 35919035

Variant Present in the following documents:

• GR2022-5611697.pdf

View BVdb publication page

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Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.

Nature Communications

Liu, Ting T; Rao, Jianan J; Hu, Wenting W; Cui, Bowen B; Cai, Jiaoyang J; Liu, Yuhan Y; Sun, Huiying H; Chen, Xiaoxiao X; Tang, Yanjing Y; Chen, Jing J; Wang, Xiang X; Wang, Han H; Qian, Wubin W; Mao, Binchen B; Guo, Sheng S; Wang, Ronghua R; Liu, Yu Y; Shen, Shuhong S

Publication Date: 2022-03-28

Variant appearance in text: MUT: R369H

PubMed Link: 35347147

Variant Present in the following documents:

• 41467_2022_29336_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation-specific reporter for optimization and enrichment of prime editing.

Nature Communications

Schene, I F IF; Joore, I P IP; Baijens, J H L JHL; Stevelink, R R; Kok, G G; Shehata, S S; Ilcken, E F EF; Nieuwenhuis, E C M ECM; Bolhuis, D P DP; van Rees, R C M RCM; Spelier, S A SA; van der Doef, H P J HPJ; Beekman, J M JM; Houwen, R H J RHJ; Nieuwenhuis, E E S EES; Fuchs, S A SA

Publication Date: 2022-03-01

Variant appearance in text: MUT: R369H

PubMed Link: 35232966

Variant Present in the following documents:

• 41467_2022_28656_MOESM1_ESM.pdf

View BVdb publication page

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: MMUT: 1106G>A

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.

Npj Genomic Medicine

Hu, Ping P; Tan, Jianxin J; Yu, Feng F; Shao, Binbin B; Zhang, Fang F; Zhang, Jingjing J; Lin, Yingchun Y; Tao, Tao T; Jiang, Lili L; Jiang, Zhengwen Z; Xu, Zhengfeng Z

Publication Date: 2022-01-25

Variant appearance in text: MUT: 1106G>A

PubMed Link: 35079019

Variant Present in the following documents:

• 41525_2021_280_MOESM1_ESM.pdf

View BVdb publication page

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Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.

Molecular Genetics & Genomic Medicine

Yu, Yue Y; Shuai, Ruixue R; Liang, Lili L; Qiu, Wenjuan W; Shen, Linghua L; Wu, Shengnan S; Wei, Haiyan H; Chen, Yongxing Y; Yang, Chiju C; Xu, Peng P; Chen, Xigui X; Zou, Hui H; Feng, Jizhen J; Niu, Tingting T; Hu, Haili H; Ye, Jun J; Zhang, Huiwen H; Lu, Deyun D; Gong, Zhuwen Z; Zhan, Xia X; Ji, Wenjun W; Gu, Xuefan X; Han, Lianshu L

Publication Date: 2021-11

Variant appearance in text: MUT: 1106G>A

PubMed Link: 34668645

Variant Present in the following documents:

• Main text
• MGG3-9-e1822.pdf

View BVdb publication page

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Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.

Molecular Genetics & Genomic Medicine

Yu, Yue Y; Shuai, Ruixue R; Liang, Lili L; Qiu, Wenjuan W; Shen, Linghua L; Wu, Shengnan S; Wei, Haiyan H; Chen, Yongxing Y; Yang, Chiju C; Xu, Peng P; Chen, Xigui X; Zou, Hui H; Feng, Jizhen J; Niu, Tingting T; Hu, Haili H; Ye, Jun J; Zhang, Huiwen H; Lu, Deyun D; Gong, Zhuwen Z; Zhan, Xia X; Ji, Wenjun W; Gu, Xuefan X; Han, Lianshu L

Publication Date: 2021-11

Variant appearance in text: MUT: 1106G>A

PubMed Link: 34668645

Variant Present in the following documents:

• Main text
• MGG3-9-e1822.pdf

View BVdb publication page

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Mitochondrial disease, mitophagy, and cellular distress in methylmalonic acidemia.

Cellular And Molecular Life Sciences : Cmls

Luciani, Alessandro A; Denley, Matthew C S MCS; Govers, Larissa P LP; Sorrentino, Vincenzo V; Froese, D Sean DS

Publication Date: 2021-11

Variant appearance in text: MMUT: Arg369His

PubMed Link: 34524466

Variant Present in the following documents:

• Main text
• 18_2021_Article_3934.pdf

View BVdb publication page

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Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications

Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L

Publication Date: 2021-04-19

Variant appearance in text: MUT: R369H

PubMed Link: 33875650

Variant Present in the following documents:

• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1
• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).

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

Manoli, Irini I; Pass, Alexandra R AR; Harrington, Elizabeth A EA; Sloan, Jennifer L JL; Gagné, Jack J; McCoy, Samantha S; Bell, Sarah L SL; Hattenbach, Jacob D JD; Leitner, Brooks P BP; Duckworth, Courtney J CJ; Fletcher, Laura A LA; Cassimatis, Thomas M TM; Galarreta, Carolina I CI; Thurm, Audrey A; Snow, Joseph J; Van Ryzin, Carol C; Ferry, Susan S; Mew, Nicholas Ah NA; Shchelochkov, Oleg A OA; Chen, Kong Y KY; Venditti, Charles P CP

Publication Date: 2021-08

Variant appearance in text: MMUT: 1106G>A; Arg369His

PubMed Link: 33820958

Variant Present in the following documents:

• Main text
• 41436_2021_Article_1143.pdf

View BVdb publication page

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Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.

Signal Transduction And Targeted Therapy

Liu, Fatao F; Li, Yongsheng Y; Ying, Dongjian D; Qiu, Shimei S; He, Yong Y; Li, Maolan M; Liu, Yun Y; Zhang, Yijian Y; Zhu, Qin Q; Hu, Yunping Y; Liu, Liguo L; Li, Guoqiang G; Pan, Weihua W; Jin, Wei W; Mu, Jiasheng J; Cao, Yang Y; Liu, Yingbin Y

Publication Date: 2021-02-10

Variant appearance in text: MUT: Arg369His

PubMed Link: 33563892

Variant Present in the following documents:

• 41392_2020_412_MOESM17_ESM.xlsx, sheet 1
• 41392_2020_412_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Long-term N-carbamylglutamate treatment of hyperammonemia in patients with classic organic acidemias.

Molecular Genetics And Metabolism Reports

Kiykim, Ertugrul E; Oguz, Ozge O; Duman, Cisem C; Zubarioglu, Tanyel T; Cansever, Mehmet Serif MS; Zeybek, Ayse Cigdem Aktuglu ACA

Publication Date: 2021-03

Variant appearance in text: MMUT: R369H

PubMed Link: 33552909

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.

Scientific Reports

Zhang, Ruixue R; Qiang, Rong R; Song, Chengrong C; Ma, Xiaoping X; Zhang, Yan Y; Li, Fengxia F; Wang, Rui R; Yu, Wenwen W; Feng, Mei M; Yang, Lihui L; Wang, Xiaobin X; Cai, Na N

Publication Date: 2021-01-29

Variant appearance in text: MUT: 1106G>A

PubMed Link: 33514801

Variant Present in the following documents:

• Main text
• 41598_2021_Article_81897.pdf

View BVdb publication page

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A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.

Orphanet Journal Of Rare Diseases

Liang, Lili L; Shuai, Ruixue R; Yu, Yue Y; Qiu, Wenjuan W; Shen, Linghua L; Wu, Shengnan S; Wei, Haiyan H; Chen, Yongxing Y; Yang, Chiju C; Xu, Peng P; Chen, Xigui X; Zou, Hui H; Feng, Jizhen J; Niu, Tingting T; Hu, Haili H; Ye, Jun J; Zhang, Huiwen H; Lu, Deyun D; Gong, Zhuwen Z; Zhan, Xia X; Ji, Wenjun W; Yu, Yongguo Y; Gu, Xuefan X; Han, Lianshu L

Publication Date: 2021-01-07

Variant appearance in text: MMUT: R369H

PubMed Link: 33413471

Variant Present in the following documents:

• Main text

View BVdb publication page

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Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.

International Journal Of Neonatal Screening

Tangeraas, Trine T; Sæves, Ingjerd I; Klingenberg, Claus C; Jørgensen, Jens J; Kristensen, Erle E; Gunnarsdottir, Gunnþórunn G; Hansen, Eirik Vangsøy EV; Strand, Janne J; Lundman, Emma E; Ferdinandusse, Sacha S; Salvador, Cathrin Lytomt CL; Woldseth, Berit B; Bliksrud, Yngve T YT; Sagredo, Carlos C; Olsen, Øyvind E ØE; Berge, Mona C MC; Trømborg, Anette Kjoshagen AK; Ziegler, Anders A; Zhang, Jin Hui JH; Sørgjerd, Linda Karlsen LK; Ytre-Arne, Mari M; Hogner, Silje S; Løvoll, Siv M SM; Kløvstad Olavsen, Mette R MR; Navarrete, Dionne D; Gaup, Hege J HJ; Lilje, Rina R; Zetterström, Rolf H RH; Stray-Pedersen, Asbjørg A; Rootwelt, Terje T; Rinaldo, Piero P; Rowe, Alexander D AD; Pettersen, Rolf D RD

Publication Date: 2020-09

Variant appearance in text: MUT: 1106G>A

PubMed Link: 33123633

Variant Present in the following documents:

• Main text
• IJNS-06-00051.pdf

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: MMUT: R369H

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia.

Scientific Reports

Zhang, Chuan C; Wang, Xing X; Hao, Shengju S; Zhang, Qinghua Q; Zheng, Lei L; Zhou, Bingbo B; Liu, Furong F; Feng, Xuan X; Chen, Xue X; Ma, Panpan P; Chen, Cuixia C; Cao, Zongfu Z; Ma, Xu X

Publication Date: 2020-07-27

Variant appearance in text: MUT: 1106G>A

PubMed Link: 32719376

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil.

Genetics And Molecular Biology

Randon, Dévora N DN; Sperb-Ludwig, Fernanda F; Vianna, Fernanda S L FSL; Becker, Ana P P APP; Vargas, Carmen R CR; Sitta, Angela A; Sant'Ana, Alexia N AN; Schwartz, Ida V D IVD; Bitencourt, Fernanda H de FH

Publication Date: 2020-07-24

Variant appearance in text: MUT: Arg369His

PubMed Link: 32706845

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-43-3-e20190298.pdf

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: MUT: R369H

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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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: MUT: 1106G>A; rs564069299

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene.

Bmc Medical Genetics

Habibzadeh, Parham P; Tabatabaei, Zahra Z; Farazi Fard, Mohammad Ali MA; Jamali, Laila L; Hafizi, Aazam A; Nikuei, Pooneh P; Salarian, Leila L; Nasr Esfahani, Mohammad Hossein MH; Anvar, Zahra Z; Faghihi, Mohammad Ali MA

Publication Date: 2020-02-03

Variant appearance in text: MUT: R369H

PubMed Link: 32013889

Variant Present in the following documents:

• Main text

View BVdb publication page

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A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit.

Frontiers In Genetics

Zhang, Wanqiao W; Yang, Yao Y; Peng, Wei W; Chang, Juan J; Mei, Yabo Y; Yan, Lei L; Chen, Yuhan Y; Wei, Xiujuan X; Liu, Yabin Y; Wang, Yan Y; Feng, Zhichun Z

Publication Date: 2019

Variant appearance in text: MUT: 1106G>A

PubMed Link: 31998365

Variant Present in the following documents:

• Main text
• fgene-10-01302.pdf

View BVdb publication page

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Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

Journal Of Inherited Metabolic Disease

Haijes, Hanneke A HA; Molema, Femke F; Langeveld, Mirjam M; Janssen, Mirian C MC; Bosch, Annet M AM; van Spronsen, Francjan F; Mulder, Margot F MF; Verhoeven-Duif, Nanda M NM; Jans, Judith J M JJM; van der Ploeg, Ans T AT; Wagenmakers, Margreet A MA; Rubio-Gozalbo, M Estela ME; Brouwers, Martijn C G J MCGJ; de Vries, Maaike C MC; Langendonk, Janneke G JG; Williams, Monique M; van Hasselt, Peter M PM

Publication Date: 2020-05

Variant appearance in text: MUT: 1106G>A

PubMed Link: 31828787

Variant Present in the following documents:

• JIMD-43-424-s001.pdf

View BVdb publication page

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: MUT: R369H

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics

Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS

Publication Date: 2019

Variant appearance in text: MUT: R369H; rs564069299

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: rs564069299

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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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: MUT: 1106G>A

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.

Molecular Genetics & Genomic Medicine

Hong, Sha S; Wang, Li L; Zhao, Dongying D; Zhang, Yonghong Y; Chen, Yan Y; Tan, Jintong J; Liang, Lili L; Zhu, Tianwen T

Publication Date: 2019-06

Variant appearance in text: MUT: 1106G>A

PubMed Link: 30968598

Variant Present in the following documents:

• Main text

View BVdb publication page

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Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups.

Orphanet Journal Of Rare Diseases

Chu, Tzu-Hung TH; Chien, Yin-Hsiu YH; Lin, Hsiang-Yu HY; Liao, Hsuan-Chieh HC; Ho, Huey-Jane HJ; Lai, Chih-Jou CJ; Chiang, Chuan-Chi CC; Lin, Niang-Cheng NC; Yang, Chia-Feng CF; Hwu, Wuh-Liang WL; Lee, Ni-Chung NC; Lin, Shuan-Pei SP; Liu, Chin-Su CS; Hu, Rey-Heng RH; Ho, Ming-Chih MC; Niu, Dau-Ming DM

Publication Date: 2019-04-02

Variant appearance in text: MUT: R369H

PubMed Link: 30940196

Variant Present in the following documents:

• Main text

View BVdb publication page

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Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations.

Frontiers In Genetics

Zhou, Wei W; Li, Huizhong H; Wang, Chuanxia C; Wang, Xiuli X; Gu, Maosheng M

Publication Date: 2018

Variant appearance in text: MUT: 1106G>A

PubMed Link: 30728829

Variant Present in the following documents:

• Main text
• fgene-09-00726.pdf

View BVdb publication page

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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: MUT: R369H

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population.

Frontiers In Genetics

Guo, Kejian K; Zhou, Xuan X; Chen, Xigui X; Wu, Yili Y; Liu, Chuanxin C; Kong, Qingsheng Q

Publication Date: 2018

Variant appearance in text: MUT: R369H

PubMed Link: 29731766

Variant Present in the following documents:

• Main text
• fgene-09-00122.pdf

View BVdb publication page

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Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: MUT: R369H; rs564069299

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 2

View BVdb publication page

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Refining low protein modular feeds for children on low protein tube feeds with organic acidaemias.

Molecular Genetics And Metabolism Reports

Daly, A A; Evans, S S; Ashmore, C C; Chahal, S S; Santra, S S; MacDonald, A A

Publication Date: 2017-12

Variant appearance in text: MUT: 1106G>A

PubMed Link: 29034175

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia.

Indian Journal Of Clinical Biochemistry : Ijcb

Kumari, Chandrawati C; Kapoor, Seema S; Varughese, Bijo B; Pollipali, Sunil Kumar SK; Ramji, Siddarth S

Publication Date: 2017-07

Variant appearance in text: MUT: R369H

PubMed Link: 28811685

Variant Present in the following documents:

• Main text

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: MUT: 1106G>A

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Longitudinal analysis of treatment-induced genomic alterations in gliomas.

Genome Medicine

Erson-Omay, E Zeynep EZ; Henegariu, Octavian O; Omay, S Bülent SB; Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Mishra-Gorur, Ketu K; Li, Jie J; Özduman, Koray K; Carrión-Grant, Geneive G; Clark, Victoria E VE; Çağlar, Caner C; Bakırcıoğlu, Mehmet M; Pamir, M Necmettin MN; Tabar, Viviane V; Vortmeyer, Alexander O AO; Bilguvar, Kaya K; Yasuno, Katsuhito K; DeAngelis, Lisa M LM; Baehring, Joachim M JM; Moliterno, Jennifer J; Günel, Murat M

Publication Date: 2017-02-02

Variant appearance in text: MUT: R369H

PubMed Link: 28153049

Variant Present in the following documents:

• 13073_2017_401_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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[Gene mutation analysis and prenatal diagnosis of four pedigrees with methymalonic aciduria].

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

Pan, Yu-Chun YC; Liu, Yang Y; Wu, Wei-Qing WQ; Xie, Jian-Sheng JS

Publication Date: 2016-10

Variant appearance in text: MUT: 1106G>A

PubMed Link: 27751223

Variant Present in the following documents:

• Main text

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: MUT: 1106G>A

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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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: MUT: R369H

PubMed Link: 27224906

Variant Present in the following documents:

• pcbi.1004962.s005.xlsx, sheet 1

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Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia.

Human Gene Therapy

Harrington, Elizabeth A EA; Sloan, Jennifer L JL; Manoli, Irini I; Chandler, Randy J RJ; Schneider, Mark M; McGuire, Peter J PJ; Calcedo, Roberto R; Wilson, James M JM; Venditti, Charles P CP

Publication Date: 2016-05

Variant appearance in text: MUT: 1106G>A

PubMed Link: 26790480

Variant Present in the following documents:

• Main text

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The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers.

Molecular Biosystems

Caterino, Marianna M; Chandler, Randy J RJ; Sloan, Jennifer L JL; Dorko, Kenneth K; Cusmano-Ozog, Kristina K; Ingenito, Laura L; Strom, Stephen C SC; Imperlini, Esther E; Scolamiero, Emanuela E; Venditti, Charles P CP; Ruoppolo, Margherita M

Publication Date: 2016-02

Variant appearance in text: MUT: 1106G>A

PubMed Link: 26672496

Variant Present in the following documents:

• Main text

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A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.

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

Manoli, Irini I; Myles, Jennifer G JG; Sloan, Jennifer L JL; Shchelochkov, Oleg A OA; Venditti, Charles P CP

Publication Date: 2016-04

Variant appearance in text: MUT: 1106G>A

PubMed Link: 26270765

Variant Present in the following documents:

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: MUT: R369H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: MUT: R369H

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1
• NIHMS630249-supplement-6.xlsx, sheet 1

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Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.

Human Mutation

Forny, Patrick P; Froese, D Sean DS; Suormala, Terttu T; Yue, Wyatt W WW; Baumgartner, Matthias R MR

Publication Date: 2014-12

Variant appearance in text: MUT: R369H

PubMed Link: 25125334

Variant Present in the following documents:

• Main text
• HUMU-35-1449-s001.pdf
• HUMU-35-1449.pdf

View BVdb publication page

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The integrated landscape of driver genomic alterations in glioblastoma.

Nature Genetics

Frattini, Veronique V; Trifonov, Vladimir V; Chan, Joseph Minhow JM; Castano, Angelica A; Lia, Marie M; Abate, Francesco F; Keir, Stephen T ST; Ji, Alan X AX; Zoppoli, Pietro P; Niola, Francesco F; Danussi, Carla C; Dolgalev, Igor I; Porrati, Paola P; Pellegatta, Serena S; Heguy, Adriana A; Gupta, Gaurav G; Pisapia, David J DJ; Canoll, Peter P; Bruce, Jeffrey N JN; McLendon, Roger E RE; Yan, Hai H; Aldape, Ken K; Finocchiaro, Gaetano G; Mikkelsen, Tom T; Privé, Gilbert G GG; Bigner, Darell D DD; Lasorella, Anna A; Rabadan, Raul R; Iavarone, Antonio A

Publication Date: 2013-10

Variant appearance in text: MUT: R369H

PubMed Link: 23917401

Variant Present in the following documents:

• NIHMS510851-supplement-3.xlsx, sheet 1

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Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients.

Jimd Reports

Liu, Mei-Ying MY; Liu, Tze-Tze TT; Yang, Yang-Ling YL; Chang, Ying-Chen YC; Fan, Ya-Ling YL; Lee, Shu-Fen SF; Teng, Yu-Ting YT; Chiang, Szu-Hui SH; Niu, Dau-Ming DM; Lin, Shio-Jean SJ; Chao, Mei-Chun MC; Lin, Shuan-Pei SP; Han, Lian-Shu LS; Qi, Yu Y; Hsiao, Kwang-Jen KJ

Publication Date: 2012

Variant appearance in text: MUT: 1106G>A

PubMed Link: 23430940

Variant Present in the following documents:

• Main text

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Neurocognitive phenotype of isolated methylmalonic acidemia.

Pediatrics

O'Shea, Colin J CJ; Sloan, Jennifer L JL; Wiggs, Edythe A EA; Pao, Maryland M; Gropman, Andrea A; Baker, Eva H EH; Manoli, Irini I; Venditti, Charles P CP; Snow, Joseph J

Publication Date: 2012-06

Variant appearance in text: MUT: R369H

PubMed Link: 22614770

Variant Present in the following documents:

• Main text

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Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations.

The American Journal Of Clinical Nutrition

Hauser, Natalie S NS; Manoli, Irini I; Graf, Jennifer C JC; Sloan, Jennifer J; Venditti, Charles P CP

Publication Date: 2011-01

Variant appearance in text: MUT: R369H

PubMed Link: 21048060

Variant Present in the following documents:

• Main text

View BVdb publication page

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