Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: ABCD1: H299Y; rs202195978

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1
• mmc3.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: ABCD1: H299Y; rs202195978

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.

Genes

van de Stadt, Stephanie I W SIW; Mooyer, Petra A W PAW; Dijkstra, Inge M E IME; Dekker, Conny J M CJM; Vats, Divya D; Vera, Moin M; Ruzhnikov, Maura R Z MRZ; van Haren, Keith K; Tang, Nelson N; Koop, Klaas K; Willemsen, Michel A MA; Hui, Joannie J; Vaz, Frédéric M FM; Ebberink, Merel S MS; Engelen, Marc M; Kemp, Stephan S; Ferdinandusse, Sacha S

Publication Date: 2021-11-30

Variant appearance in text: ALD: 895C>T

PubMed Link: 34946879

Variant Present in the following documents:

• Main text
• genes-12-01930.pdf

View BVdb publication page

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Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.

Genes

van de Stadt, Stephanie I W SIW; Mooyer, Petra A W PAW; Dijkstra, Inge M E IME; Dekker, Conny J M CJM; Vats, Divya D; Vera, Moin M; Ruzhnikov, Maura R Z MRZ; van Haren, Keith K; Tang, Nelson N; Koop, Klaas K; Willemsen, Michel A MA; Hui, Joannie J; Vaz, Frédéric M FM; Ebberink, Merel S MS; Engelen, Marc M; Kemp, Stephan S; Ferdinandusse, Sacha S

Publication Date: 2021-11-30

Variant appearance in text: ALD: 895C>T

PubMed Link: 34946879

Variant Present in the following documents:

• Main text
• genes-12-01930.pdf

View BVdb publication page

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Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina.

Jama Network Open

Lee, Stacey S; Clinard, Kristin K; Young, Sarah P SP; Rehder, Catherine W CW; Fan, Zheng Z; Calikoglu, Ali S AS; Bali, Deeksha S DS; Bailey, Donald B DB; Gehtland, Lisa M LM; Millington, David S DS; Patel, Hari S HS; Beckloff, Sara E SE; Zimmerman, Scott J SJ; Powell, Cynthia M CM; Taylor, Jennifer L JL

Publication Date: 2020-01-03

Variant appearance in text: ABCD1: 895C>T

PubMed Link: 32003821

Variant Present in the following documents:

• Main text

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: ABCD1: H299Y

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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