Publications:

A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene.

Human Genetics

Abdelfatah, Nelly N; Mostafa, Ahmed A AA; French, Curtis R CR; Doucette, Lance P LP; Penney, Cindy C; Lucas, Matthew B MB; Griffin, Anne A; Booth, Valerie V; Rowley, Christopher C; Besaw, Jessica E JE; Tranebjærg, Lisbeth L; Rendtorff, Nanna Dahl ND; Hodgkinson, Kathy A KA; Little, Leichelle A LA; Agrawal, Sumit S; Parnes, Lorne L; Batten, Tony T; Moore, Susan S; Hu, Pingzhao P; Pater, Justin A JA; Houston, Jim J; Galutira, Dante D; Benteau, Tammy T; MacDonald, Courtney C; French, Danielle D; O'Rielly, Darren D DD; Stanton, Susan G SG; Young, Terry-Lynn TL

Publication Date: 2022-04

Variant appearance in text: CA5A: 749A>G

PubMed Link: 34633540

Variant Present in the following documents:

• 439_2021_Article_2381.pdf

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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: CA5A: E250G; rs146136907

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

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Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Frontiers In Pharmacology

Cornelius, Albert A; Foley, Jessica J; Bond, Jeffrey J; Nagulapally, Abhinav B AB; Steinbrecher, Julie J; Hendricks, William P D WPD; Rich, Maria M; Yendrembam, Sangeeta S; Bergendahl, Genevieve G; Trent, Jeffrey M JM; Sholler, Giselle S GS

Publication Date: 2017

Variant appearance in text: CA5A: E250G; rs146136907

PubMed Link: 28993730

Variant Present in the following documents:

• Table3.xlsx, sheet 1

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