Publications:

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APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences

Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB

Publication Date: 2023-02-26

Variant appearance in text: DMD: 4233+2C>T

PubMed Link: 36865205

Variant Present in the following documents:

• media-3.xlsx, sheet 1

View BVdb publication page

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Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.

Journal Of The American Heart Association

Yang, Qixin Q; Berkman, Amy M AM; Ezekian, Jordan E JE; Rosamilia, Michael M; Rosenfeld, Jill A JA; Liu, Pengfei P; Landstrom, Andrew P AP

Publication Date: 2022-10-04

Variant appearance in text: DMD: 4233+2C>T

PubMed Link: 36129056

Variant Present in the following documents:

• JAH3-11-e025257-s001.pdf
• JAH3-11-e025257.pdf

View BVdb publication page

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Differential diagnosis of vacuolar myopathies in the NGS era.

Brain Pathology (Zurich, Switzerland)

Mair, Dorothea D; Biskup, Saskia S; Kress, Wolfram W; Abicht, Angela A; Brück, Wolfgang W; Zechel, Sabrina S; Knop, Karl Christian KC; Koenig, Fatima Barbara FB; Tey, Shelisa S; Nikolin, Stefan S; Eggermann, Katja K; Kurth, Ingo I; Ferbert, Andreas A; Weis, Joachim J

Publication Date: 2020-09

Variant appearance in text: DMD: 4233+2C>T

PubMed Link: 32419263

Variant Present in the following documents:

• Main text
• BPA-30-877.pdf

View BVdb publication page

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Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Nature Communications

Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG

Publication Date: 2020-04-02

Variant appearance in text: DMD: 4233+2C>T

PubMed Link: 32242007

Variant Present in the following documents:

• 41467_2020_15461_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy.

Cold Spring Harbor Molecular Case Studies

Bodian, Dale L DL; Vilboux, Thierry T; Hourigan, Suchitra K SK; Jenevein, Callie L CL; Mani, Haresh H; Kent, Kathleen C KC; Khromykh, Alina A; Solomon, Benjamin D BD; Hauser, Natalie S NS

Publication Date: 2017-11

Variant appearance in text: DMD: 4233+2C>T

PubMed Link: 28701297

Variant Present in the following documents:

• Main text
• BodianMCS002055.pdf

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: DMD: 4233+2C>T

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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