Publications:

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Intronic variants in inborn errors of metabolism: Beyond the exome.

Frontiers In Genetics

Hertzog, Ashley A; Selvanathan, Arthavan A; Farnsworth, Elizabeth E; Tchan, Michel M; Adams, Louisa L; Lewis, Katherine K; Tolun, Adviye Ayper AA; Bennetts, Bruce B; Ho, Gladys G; Bhattacharya, Kaustuv K

Publication Date: 2022

Variant appearance in text: SLC22A5: 424G>T

PubMed Link: 36561316

Variant Present in the following documents:

• Main text
• fgene-13-1031495.pdf

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Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency.

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

Koleske, Megan L ML; McInnes, Gregory G; Brown, Julia E H JEH; Thomas, Neil N; Hutchinson, Keino K; Chin, Marcus Y MY; Koehl, Antoine A; Arkin, Michelle R MR; Schlessinger, Avner A; Gallagher, Renata C RC; Song, Yun S YS; Altman, Russ B RB; Giacomini, Kathleen M KM

Publication Date: 2022-11-16

Variant appearance in text: SLC22A5: 424G>T

PubMed Link: 36343260

Variant Present in the following documents:

• pnas.2210247119.sd01.xlsx, sheet 7

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Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic.

Orphanet Journal Of Rare Diseases

Ambrose, Anastasia A; Sheehan, Melissa M; Bahl, Shalini S; Athey, Taryn T; Ghai-Jain, Shailly S; Chan, Alicia A; Mercimek-Andrews, Saadet S

Publication Date: 2022-09-15

Variant appearance in text: SLC22A5: 424G>T

PubMed Link: 36109795

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2512.pdf

View BVdb publication page

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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: SLC22A5: 424G>T; Ala142Ser

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.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: SLC22A5: A142S; rs151231558

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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: SLC22A5: 424G>T; Ala142Ser

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: SLC22A5: A142S; rs151231558

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Genomic sequencing identifies secondary findings in a cohort of parent study participants.

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

Thompson, Michelle L ML; Finnila, Candice R CR; Bowling, Kevin M KM; Brothers, Kyle B KB; Neu, Matthew B MB; Amaral, Michelle D MD; Hiatt, Susan M SM; East, Kelly M KM; Gray, David E DE; Lawlor, James M J JMJ; Kelley, Whitley V WV; Lose, Edward J EJ; Rich, Carla A CA; Simmons, Shirley S; Levy, Shawn E SE; Myers, Richard M RM; Barsh, Gregory S GS; Bebin, E Martina EM; Cooper, Gregory M GM

Publication Date: 2018-12

Variant appearance in text: SLC22A5: A142S

PubMed Link: 29790872

Variant Present in the following documents:

• Main text
• nihms952080.pdf

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Genomic diagnosis for children with intellectual disability and/or developmental delay.

Genome Medicine

Bowling, Kevin M KM; Thompson, Michelle L ML; Amaral, Michelle D MD; Finnila, Candice R CR; Hiatt, Susan M SM; Engel, Krysta L KL; Cochran, J Nicholas JN; Brothers, Kyle B KB; East, Kelly M KM; Gray, David E DE; Kelley, Whitley V WV; Lamb, Neil E NE; Lose, Edward J EJ; Rich, Carla A CA; Simmons, Shirley S; Whittle, Jana S JS; Weaver, Benjamin T BT; Nesmith, Amy S AS; Myers, Richard M RM; Barsh, Gregory S GS; Bebin, E Martina EM; Cooper, Gregory M GM

Publication Date: 2017-05-30

Variant appearance in text: SLC22A5: 424G>T; Ala142Ser

PubMed Link: 28554332

Variant Present in the following documents:

• 13073_2017_433_MOESM7_ESM.xlsx, sheet 1

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: SLC22A5: A142S

PubMed Link: 28471432

Variant Present in the following documents:

• gim201750x2.xlsx, sheet 3

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Carnitine transport and fatty acid oxidation.

Biochimica Et Biophysica Acta

Longo, Nicola N; Frigeni, Marta M; Pasquali, Marzia M

Publication Date: 2016-10

Variant appearance in text: OCTN2: 424G>T

PubMed Link: 26828774

Variant Present in the following documents:

• Main text

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: CDSP: A142S

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: SLC22A5: A142S

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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Genotype-phenotype correlation in primary carnitine deficiency.

Human Mutation

Rose, Emily C EC; di San Filippo, Cristina Amat CA; Ndukwe Erlingsson, Uzochi C UC; Ardon, Orly O; Pasquali, Marzia M; Longo, Nicola N

Publication Date: 2012-01

Variant appearance in text: SLC22A5: 424G>T

PubMed Link: 21922592

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardiomyopathy and carnitine deficiency.

Molecular Genetics And Metabolism

Amat di San Filippo, Cristina C; Taylor, Matthew R G MR; Mestroni, Luisa L; Botto, Lorenzo D LD; Longo, Nicola N

Publication Date: 2008-06

Variant appearance in text: SLC22A5: A142S

PubMed Link: 18337137

Variant Present in the following documents:

• Main text

View BVdb publication page

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Disorders of carnitine transport and the carnitine cycle.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics

Longo, Nicola N; Amat di San Filippo, Cristina C; Pasquali, Marzia M

Publication Date: 2006-05-15

Variant appearance in text: OCTN2: 424G>T

PubMed Link: 16602102

Variant Present in the following documents:

• Main text

View BVdb publication page

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