Publications:

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Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.

Orphanet Journal Of Rare Diseases

Guo, Yongchao Y; Jiang, Jianhui J; Xu, Zhongyao Z

Publication Date: 2023-06-12

Variant appearance in text: GCDH: 1204C>T; Arg402Trp

PubMed Link: 37308883

Variant Present in the following documents:

• Main text
• 13023_2023_2726_MOESM1_ESM.xlsx, sheet 1
• 13023_2023_2726_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients.

Jimd Reports

Healy, Lydia L; O'Shea, Meabh M; McNulty, Jennifer J; King, Graham G; Twomey, Eilish E; Treacy, Eileen E; Crushell, Ellen E; Hughes, Joanne J; Knerr, Ina I; Monavari, Ahmad Ardeshir AA

Publication Date: 2022-07

Variant appearance in text: GCDH: 1204C>T; Arg402Trp

PubMed Link: 35822093

Variant Present in the following documents:

• Main text
• JMD2-63-379.pdf

View BVdb publication page

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Alterations in homologous recombination repair genes in prostate cancer brain metastases.

Nature Communications

Rodriguez-Calero, Antonio A; Gallon, John J; Akhoundova, Dilara D; Maletti, Sina S; Ferguson, Alison A; Cyrta, Joanna J; Amstutz, Ursula U; Garofoli, Andrea A; Paradiso, Viola V; Tomlins, Scott A SA; Hewer, Ekkehard E; Genitsch, Vera V; Fleischmann, Achim A; Vassella, Erik E; Rushing, Elisabeth J EJ; Grobholz, Rainer R; Fischer, Ingeborg I; Jochum, Wolfram W; Cathomas, Gieri G; Osunkoya, Adeboye O AO; Bubendorf, Lukas L; Moch, Holger H; Thalmann, George G; Ng, Charlotte K Y CKY; Gillessen, Silke S; Piscuoglio, Salvatore S; Rubin, Mark A MA

Publication Date: 2022-05-03

Variant appearance in text: GCDH: Arg402Trp; rs121434369

PubMed Link: 35504881

Variant Present in the following documents:

• 41467_2022_30003_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

Jimd Reports

Martín-Rivada, Álvaro Á; Palomino Pérez, Laura L; Ruiz-Sala, Pedro P; Navarrete, Rosa R; Cambra Conejero, Ana A; Quijada Fraile, Pilar P; Moráis López, Ana A; Belanger-Quintana, Amaya A; Martín-Hernández, Elena E; Bellusci, Marcello M; Cañedo Villaroya, Elvira E; Chumillas Calzada, Silvia S; García Silva, María Teresa MT; Bergua Martínez, Ana A; Stanescu, Sinziana S; Martínez-Pardo Casanova, Mercedes M; Ruano, Miguel L F MLF; Ugarte, Magdalena M; Pérez, Belén B; Pedrón-Giner, Consuelo C

Publication Date: 2022-03

Variant appearance in text: GCDH: 1204C>T; Arg402Trp

PubMed Link: 35281663

Variant Present in the following documents:

• JMD2-63-146.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: GCDH: 1204C>T

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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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: GCDH: R402W; rs121434369

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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The use of 68Ga-EDTA PET allows detecting progressive decline of renal function in rats.

American Journal Of Nuclear Medicine And Molecular Imaging

Fontana, Andrea O AO; Gonzalez Melo, Mary M; Allenbach, Gilles G; Georgantas, Costa C; Wang, Ruijia R; Braissant, Olivier O; Barbey, Frederic F; Prior, John O JO; Ballhausen, Diana D; Viertl, David D

Publication Date: 2021

Variant appearance in text: GCDH: R402W

PubMed Link: 35003889

Variant Present in the following documents:

• Main text

View BVdb publication page

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Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

Bmj (Clinical Research Ed.)

Schon, Katherine R KR; Horvath, Rita R; Wei, Wei W; Calabrese, Claudia C; Tucci, Arianna A; Ibañez, Kristina K; Ratnaike, Thiloka T; Pitceathly, Robert D S RDS; Bugiardini, Enrico E; Quinlivan, Rosaline R; Hanna, Michael G MG; Clement, Emma E; Ashton, Emma E; Sayer, John A JA; Brennan, Paul P; Josifova, Dragana D; Izatt, Louise L; Fratter, Carl C; Nesbitt, Victoria V; Barrett, Timothy T; McMullen, Dominic J DJ; Smith, Audrey A; Deshpande, Charulata C; Smithson, Sarah F SF; Festenstein, Richard R; Canham, Natalie N; Caulfield, Mark M; Houlden, Henry H; Rahman, Shamima S; Chinnery, Patrick F PF; ,

Publication Date: 2021-11-03

Variant appearance in text: GCDH: 1204C>T; Arg402Trp

PubMed Link: 34732400

Variant Present in the following documents:

• Main text
• schk066288.ww2.xlsx, sheet 1

View BVdb publication page

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A novel mutation in the glutaryl-CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1.

Clinical Case Reports

Rayat, Sima S; Morovvati, Saeid S

Publication Date: 2021-09

Variant appearance in text: GCDH: 1204C>T; Arg402Trp

PubMed Link: 34512980

Variant Present in the following documents:

• Main text
• CCR3-9-e04749.pdf

View BVdb publication page

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: GCDH: R402W

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1
• 13073_2021_964_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China.

Frontiers In Genetics

E, Huishu H; Liang, Lili L; Zhang, Huiwen H; Qiu, Wenjuan W; Ye, Jun J; Xu, Feng F; Gong, Zhuwen Z; Gu, Xuefan X; Han, Lianshu L

Publication Date: 2021

Variant appearance in text: GCDH: 1204C>T; Arg402Trp

PubMed Link: 34306040

Variant Present in the following documents:

• Main text
• fgene-12-702374.pdf

View BVdb publication page

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The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.

Jimd Reports

Guenzel, Adam J AJ; Hall, Patricia L PL; Scott, Anna I AI; Lam, Christina C; Chang, Irene J IJ; Thies, Jenny J; Ferreira, Carlos R CR; Pichurin, Pavel P; Laxen, William W; Raymond, Kimiyo K; Gavrilov, Dimitar K DK; Oglesbee, Devin D; Rinaldo, Piero P; Matern, Dietrich D; Tortorelli, Silvia S

Publication Date: 2021-07

Variant appearance in text: GCDH: Arg402Trp

PubMed Link: 34258142

Variant Present in the following documents:

• Main text

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: GCDH: 1204C>T; Arg402Trp; rs121434369

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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Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 - case report.

Bmc Pediatrics

Bekiesinska-Figatowska, Monika M; Duczkowski, Marek M; Duczkowska, Agnieszka A; Taybert, Joanna J; Krzywdzinska, Amanda A; Sykut-Cegielska, Jolanta J

Publication Date: 2021-03-27

Variant appearance in text: GCDH: Arg402Trp

PubMed Link: 33773571

Variant Present in the following documents:

• Main text
• 12887_2021_Article_2603.pdf

View BVdb publication page

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Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma.

Jimd Reports

Foran, Jason J; Moore, Michael M; Crushell, Ellen E; Knerr, Ina I; McSweeney, Niamh N

Publication Date: 2021-03

Variant appearance in text: GCDH: Arg402Trp

PubMed Link: 33728242

Variant Present in the following documents:

• Main text
• JMD2-58-12.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: GCDH: 1204C>T; Arg402Trp

PubMed Link: 33514801

Variant Present in the following documents:

• Main text
• 41598_2021_Article_81897.pdf

View BVdb publication page

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: GCDH: R402W

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

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: GCDH: 1204C>T; Arg402Trp

PubMed Link: 33123633

Variant Present in the following documents:

• IJNS-06-00051.pdf

View BVdb publication page

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Metabolic Serendipities of Expanded Newborn Screening.

Genes

Yahyaoui, Raquel R; Blasco-Alonso, Javier J; Gonzalo-Marín, Montserrat M; Benito, Carmen C; Serrano-Nieto, Juliana J; González-Gallego, Inmaculada I; Ruiz-Sala, Pedro P; Pérez, Belén B; González-Lamuño, Domingo D

Publication Date: 2020-08-29

Variant appearance in text: GCDH: 1204C>T; Arg402Trp

PubMed Link: 32872442

Variant Present in the following documents:

• Main text
• genes-11-01018.pdf

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: GCDH: 1204C>T; Arg402Trp; rs121434369

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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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: GCDH: 1204C>T; Arg402Trp; rs121434369

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1.

Metabolic Brain Disease

Zayed, Hatem H; El Khayat, Hamed H; Tomoum, Hoda H; Khalifa, Ola O; Siddiq, Ehab E; Mohammad, Shaimaa A SA; Gamal, Radwa R; Shi, Zumin Z; Mosailhy, Ahmed A; Zaki, Osama K OK

Publication Date: 2019-08

Variant appearance in text: GCDH: Arg402Trp; rs121434369

PubMed Link: 31062211

Variant Present in the following documents:

• Main text
• 11011_2019_Article_422.pdf

View BVdb publication page

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

Database : The Journal Of Biological Databases And Curation

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

Publication Date: 2019-01-01

Variant appearance in text: GCDH: 1204C>T; Arg402Trp

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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: GCDH: R402W; rs121434369

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.

Metabolic Brain Disease

Pokora, Paulina P; Jezela-Stanek, Aleksandra A; Różdżyńska-Świątkowska, Agnieszka A; Jurkiewicz, Elżbieta E; Bogdańska, Anna A; Szymańska, Edyta E; Rokicki, Dariusz D; Ciara, Elżbieta E; Rydzanicz, Małgorzata M; Stawiński, Piotr P; Płoski, Rafał R; Tylki-Szymańska, Anna A

Publication Date: 2019-04

Variant appearance in text: GCDH: 1204C>T; Arg402Trp

PubMed Link: 30570710

Variant Present in the following documents:

• Main text
• 11011_2018_Article_357.pdf

View BVdb publication page

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

Nature Communications

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

Publication Date: 2018-02-15

Variant appearance in text: GCDH: R402W; rs121434369

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 2

View BVdb publication page

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Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1.

Jimd Reports

Stepien, Karolina M KM; Pastores, Gregory M GM; Hendroff, Una U; McCormick, Ciara C; Fitzimons, Patricia P; Khawaja, Naveed N; Borovickova, Ingrid I; Treacy, Eileen P EP

Publication Date: 2018

Variant appearance in text: GCDH: Arg402Trp

PubMed Link: 29292490

Variant Present in the following documents:

• Main text

View BVdb publication page

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A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases.

Scientific Reports

Boemer, F F; Fasquelle, C C; d'Otreppe, S S; Josse, C C; Dideberg, V V; Segers, K K; Guissard, V V; Capraro, V V; Debray, F G FG; Bours, V V

Publication Date: 2017-12-15

Variant appearance in text: GCDH: 1204C>T

PubMed Link: 29247206

Variant Present in the following documents:

• Main text
• 41598_2017_Article_18038.pdf

View BVdb publication page

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Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood.

Jimd Reports

Patel, Bimal B; Pendyal, Surekha S; Kishnani, Priya S PS; McDonald, Marie M; Bailey, Lauren L

Publication Date: 2018

Variant appearance in text: GCDH: 1204C>T; R402W

PubMed Link: 29086383

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I.

Journal Of Pediatric Genetics

Tp, Kruthika-Vinod KV; Muntaj, Shaik S; Devaraju, K S KS; Kamate, M M; Vedamurthy, A B AB

Publication Date: 2017-09

Variant appearance in text: GCDH: R402W; rs121434369

PubMed Link: 28794906

Variant Present in the following documents:

• Main text

View BVdb publication page

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Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms.

Jimd Reports

du Moulin, Marcel M; Thies, Bastian B; Blohm, Martin M; Oh, Jun J; Kemper, Markus J MJ; Santer, René R; Mühlhausen, Chris C

Publication Date: 2018

Variant appearance in text: GCDH: Arg402Trp

PubMed Link: 28699143

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: GCDH: 1204C>T; Arg402Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.

Orphanet Journal Of Rare Diseases

Boy, Nikolas N; Heringer, Jana J; Brackmann, Renate R; Bodamer, Olaf O; Seitz, Angelika A; Kölker, Stefan S; Harting, Inga I

Publication Date: 2017-04-24

Variant appearance in text: GCDH: Arg402Trp

PubMed Link: 28438223

Variant Present in the following documents:

• Main text
• 13023_2017_Article_612.pdf

View BVdb publication page

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Glutaric Acidemia Type 1: A Case of Infantile Stroke.

Jimd Reports

Kaya Ozcora, Gül Demet GD; Gokay, Songul S; Canpolat, Mehmet M; Kardaş, Fatih F; Kendirci, Mustafa M; Kumandaş, Sefer S

Publication Date: 2018

Variant appearance in text: GCDH: R402W

PubMed Link: 28411331

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases.

Experimental And Therapeutic Medicine

Zhang, Xiaoying X; Luo, Qiong Q

Publication Date: 2017-02

Variant appearance in text: GCDH: R402W

PubMed Link: 28352331

Variant Present in the following documents:

• Main text
• etm-13-02-0560.pdf

View BVdb publication page

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Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1.

Biomed Research International

Abdul Wahab, Siti Aishah SA; Yakob, Yusnita Y; Abdul Azize, Nor Azimah NA; Md Yunus, Zabedah Z; Huey Yin, Leong L; Mohd Khalid, Mohd Khairul Nizam MK; Lock Hock, Ngu N

Publication Date: 2016

Variant appearance in text: GCDH: Arg402Trp

PubMed Link: 27672653

Variant Present in the following documents:

• Main text
• BMRI2016-4074365.pdf

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Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias.

Biomed Research International

Imperlini, Esther E; Santorelli, Lucia L; Orrù, Stefania S; Scolamiero, Emanuela E; Ruoppolo, Margherita M; Caterino, Marianna M

Publication Date: 2016

Variant appearance in text: GCDH: ARG402TRP

PubMed Link: 27403441

Variant Present in the following documents:

• 9210408.f1.pdf

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Single Lysis-Salting Out Method of Genomic DNA Extraction From Dried Blood Spots.

Journal Of Clinical Laboratory Analysis

Shaik, Muntaj M; Shivanna, Devaraju Kuramkote DK; Kamate, Mahesh M; Ab, Vedamurthy V; Tp, Kruthika-Vinod KV

Publication Date: 2016-11

Variant appearance in text: GCDH: R402W

PubMed Link: 27074880

Variant Present in the following documents:

• Main text

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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: GCDH: R402W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients.

Jimd Reports

Gupta, Neerja N; Singh, Pawan Kumar PK; Kumar, Manoj M; Shastri, Shivaram S; Gulati, Sheffali S; Kumar, Atin A; Agarwala, Anuja A; Kapoor, Seema S; Nair, Mohandas M; Sapra, Savita S; Dubey, Sudhisha S; Singh, Ankur A; Kaur, Punit P; Kabra, Madhulika M

Publication Date: 2015

Variant appearance in text: GCDH: 1204C>T; Arg402Trp

PubMed Link: 25762492

Variant Present in the following documents:

• Main text

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Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.

Jimd Reports

Fraidakis, M J MJ; Liadinioti, C C; Stefanis, L L; Dinopoulos, A A; Pons, R R; Papathanassiou, M M; Garcia-Villoria, J J; Ribes, A A

Publication Date: 2015

Variant appearance in text: GCDH: 1204C>T; Arg402Trp

PubMed Link: 25256449

Variant Present in the following documents:

• Main text

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Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates.

Sultan Qaboos University Medical Journal

Al-Shamsi, Aisha A; Hertecant, Jozef L JL; Al-Hamad, Sania S; Souid, Abdul-Kader AK; Al-Jasmi, Fatma F

Publication Date: 2014-02

Variant appearance in text: GCDH: 1204C>T; R402W

PubMed Link: 24516753

Variant Present in the following documents:

• Main text

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Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1.

The Neuroradiology Journal

Nunes, J J; Loureiro, S S; Carvalho, S S; Pais, R P RP; Alfaiate, C C; Faria, A A; Garcia, P P; Diogo, L L

Publication Date: 2013-04

Variant appearance in text: GCDH: R402W

PubMed Link: 23859237

Variant Present in the following documents:

• Main text

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The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: GCDH: 1204C>T; R402W; rs121434369

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1

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Glutaric aciduria type 1 in Korea: report of two novel mutations.

Journal Of Korean Medical Science

Park, June Dong JD; Lim, ByungChan B; Kim, Ki Joong KJ; Hwang, Yong Seung YS; Kim, Seung Ki SK; Kang, Seong-Ho SH; Cho, Sung Im SI; Park, Sung Sup SS; Lee, Joon Soo JS; Chae, Jong Hee JH

Publication Date: 2010-06

Variant appearance in text: GCDH: Arg402Trp

PubMed Link: 20514322

Variant Present in the following documents:

• Main text
• jkms-25-957.pdf

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Mutation analysis in glutaric aciduria type I.

Journal Of Medical Genetics

Zschocke, J J; Quak, E E; Guldberg, P P; Hoffmann, G F GF

Publication Date: 2000-03

Variant appearance in text: GCDH: R402W

PubMed Link: 10699052

Variant Present in the following documents:

• Main text

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