J
Jack Moseley
Publications - 2
Citations - 268
Jack Moseley is an academic researcher. The author has contributed to research in topics: Gray platelet syndrome & Disease gene identification. The author has an hindex of 2, co-authored 2 publications receiving 244 citations.
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Mutations in NBEAL2 , encoding a BEACH protein, cause gray platelet syndrome
Walter H. A. Kahr,Jesse Hinckley,Ling Li,Hansjörg Schwertz,Hilary Christensen,Jesse W. Rowley,Fred G. Pluthero,Denisa Urban,Shay Fabbro,Brie Nixon,Rick Gadzinski,Mike Storck,Kai Wang,Gi Yung Ryu,Shawn M. Jobe,Brian C. Schutte,Jack Moseley,Noeleen B. Loughran,John Parkinson,Andrew S. Weyrich,Jorge Di Paola +20 more
TL;DR: Next-generation RNA sequence analysis of platelets from an individual with autosomal recessive gray platelet syndrome detected abnormal transcript reads, including intron retention, mapping to NBEAL2 (encoding neurobeachin-like 2), which was confirmed as the genetic cause of GPS.
Journal ArticleDOI
Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly
Shay Fabbro,Walter H. A. Kahr,Jesse Hinckley,Kai Wang,Jack Moseley,Gi Yung Ryu,Brie Nixon,James G. White,Thomas B. Bair,Brian C. Schutte,Jorge Di Paola +10 more
TL;DR: Data from families enabled us to significantly decrease the size of the critical region for GPS from the previously reported 9.4-Mb region at 3p21.7, and homozygosity mapping using the Affymetrix 6.0 chips demonstrates that all 6 GPS-affected persons studied are homozygous for a 1.7-MB region in 3p 21.7.