Whole Exome Sequencing

Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.

Braun DA, Shril S, Sinha A, et al. Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. Am J Med Genet A. 2018;176(11):2460-2465. doi:10.1002/ajmg.a.40489

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.

Johnson K, Bertoli M, Phillips L, et al. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. Skelet Muscle. 2018;8(1):23. doi:10.1186/s13395-018-0170-1

Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.

Prins BP, Mead TJ, Brody JA, et al. Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6. Genome Biol. 2018;19(1):87. doi:10.1186/s13059-018-1457-6

The BabySeq project: implementing genomic sequencing in newborns.

Holm IA, Agrawal PB, Ceyhan-Birsoy O, et al. The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatr. 2018;18(1):225. doi:10.1186/s12887-018-1200-1

and Mutations Implicate RAB5 Regulation in Nephrotic Syndrome.

Hermle T, Schneider R, Schapiro D, et al. and Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. J Am Soc Nephrol. 2018;29(8):2123-2138. doi:10.1681/ASN.2017121312

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.

van der Ven AT, Connaughton DM, Ityel H, et al. Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol. 2018;29(9):2348-2361. doi:10.1681/ASN.2017121265

Single-Cell RNA-Seq Reveals AML Hierarchies Relevant to Disease Progression and Immunity.

van Galen P, Hovestadt V, Ii MHW, et al. Single-Cell RNA-Seq Reveals AML Hierarchies Relevant to Disease Progression and Immunity. Cell. 2019;176(6):1265-1281.e24. doi:10.1016/j.cell.2019.01.031

The SS18-SSX Fusion Oncoprotein Hijacks BAF Complex Targeting and Function to Drive Synovial Sarcoma.

McBride MJ, Pulice JL, Beird HC, et al. The SS18-SSX Fusion Oncoprotein Hijacks BAF Complex Targeting and Function to Drive Synovial Sarcoma. Cancer Cell. 2018;33(6):1128-1141.e7. doi:10.1016/j.ccell.2018.05.002

Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.

Kurki MI, Saarentaus E, Pietilainen O, et al. Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland. Nat Commun. 2019;10(1):410. doi:10.1038/s41467-018-08262-y

Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study.

May P, Girard S, Harrer M, et al. Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study. Lancet Neurol. 2018;17(8):699-708. doi:10.1016/S1474-4422(18)30215-1

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