Publications

Forget what you thought you knew about NGS targeting workflows. Molecular Loop brings elegant simplicity to targeted NGS.

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Panneman DM, Hitti-Malin RJ, Holtes LK, et al.

Frontiers in Cell and Developmental Biology. 2023 Feb 3;11:1112270

Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Case and Allied Maculopathies from the UK

Mc Clinton B, Corradi Z, McKibbin M, et al.

Genes. 2023 Jan 11;14(1):191

Inherited Disease

Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target of all genes and loci associated with macular diseases

Hitti‐Malin RJ, Dhaenens CM, Panneman DM, et al.

Human Mutation. 2022 Dec;43(12):2234-50

Inherited Disease

Single-molecule Molecular Inversion Probes allow cost-effective targeted sequencing of all genes and loci associated with macular diseases

Hitti-Malin RJ, Roosing S, Dhaenens CM, et al.

Investigative Ophthalmology & Visual Science. 2022 Jun 1;63(7):41-

Inherited Disease

Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing

Hallam S, Nelson H, Greger V, et al.

The Journal of Molecular Diagnostics. 2014 Mar 1;16(2):180-9

Next-generation carrier screening

Umbarger MA, Kennedy CJ, Saunders P, et al.

Genetics in Medicine. 2014 Feb;16(2):132-40