Publications:

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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: MCCC2: 517_518insT

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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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: rs587776533

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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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: rs587776533

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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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: MCCC2: 516dupT

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.

Molecular Genetics And Metabolism

Forsyth, RaeLynn R; Vockley, Catherine Walsh CW; Edick, Mathew J MJ; Cameron, Cynthia A CA; Hiner, Sally J SJ; Berry, Susan A SA; Vockley, Jerry J; Arnold, Georgianne L GL; ,

Publication Date: 2016-05

Variant appearance in text: MCCC2: 517dupT; S173Ffs*25

PubMed Link: 27033733

Variant Present in the following documents:

• Main text

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Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.

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

Shepard, Peter J PJ; Barshop, Bruce A BA; Baumgartner, Matthias R MR; Hansen, John-Bjarne JB; Jepsen, Kristen K; Smith, Erin N EN; Frazer, Kelly A KA

Publication Date: 2015-08

Variant appearance in text: MCCC2: 517_518insT; Ser173Phefs

PubMed Link: 25356967

Variant Present in the following documents:

• Main text

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3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

Orphanet Journal Of Rare Diseases

Grünert, Sarah C SC; Stucki, Martin M; Morscher, Raphael J RJ; Suormala, Terttu T; Bürer, Celine C; Burda, Patricie P; Christensen, Ernst E; Ficicioglu, Can C; Herwig, Jürgen J; Kölker, Stefan S; Möslinger, Dorothea D; Pasquini, Elisabetta E; Santer, René R; Schwab, K Otfried KO; Wilcken, Bridget B; Fowler, Brian B; Yue, Wyatt W WW; Baumgartner, Matthias R MR

Publication Date: 2012-05-29

Variant appearance in text: MCCC2: 517dupT; S173Ffs*25

PubMed Link: 22642865

Variant Present in the following documents:

• Main text
• 1750-1172-7-31.pdf

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The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.

American Journal Of Human Genetics

Gallardo, M E ME; Desviat, L R LR; Rodríguez, J M JM; Esparza-Gordillo, J J; Pérez-Cerdá, C C; Pérez, B B; Rodríguez-Pombo, P P; Criado, O O; Sanz, R R; Morton, D H DH; Gibson, K M KM; Le, T P TP; Ribes, A A; de Córdoba, S R SR; Ugarte, M M; Peñalva, M A MA

Publication Date: 2001-02

Variant appearance in text: MCCB: 516insT

PubMed Link: 11170888

Variant Present in the following documents:

• Main text

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