Mawi DNA Technologies will be exhibiting at…
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De Novo SIX1 Variant and Nonsyndromic Cochleovestibular Nerve Abnormality
Abstract Background: Childhood hearing impairment affects language and cognitive development. Profound congenital sensorineural hearing impairment can be due to an abnormal cochleovestibular nerve (CVN) and cochleovestibular malformations, however, the etiology of these conditions remains unclear. Methods: We used a trio‐based exome sequencing approach to unravel…
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Pleiotropic Effects in Exome Sequencing of Siblings with Autism Spectrum Disorder and Speech Sound Disorder
Article Abstract Recent studies of autism spectrum disorder (ASD) and childhood apraxia of speech (CAS) have resulted in conflicting conclusions regarding the comorbidity of these disorders on phenotypic grounds. In a nuclear family with two dually affected and one unaffected offspring, whole-exome sequences were evaluated…
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TGFBI p.H626R Mutation: Late-Onset Lattice Corneal Dystrophy in Canadian Family
Article Abstract Within the over 70 reported transforming growth factor-beta–induced (TGFBI) corneal dystrophy mutations,1more than 40 are associated with lattice corneal dystrophy (LCD), subtypes I, III, IIIA, and IIIB according to the Human Gene Mutation Database (QIAGEN, Hilden, Germany). This is a follow-up investigation to…
READ MOREHigh-Yield Automated gDNA Isolation using Perkin Elmer chemagic Technology
Mawi DNA Technologies, in collaboration with Perkin Elmer and the University of North Carolina, has developed a joint Application Note detailing optimized DNA extraction from iSWAB samples on the chemagic automated platform: High-Yield Automated gDNA Isolation using Perkin Elmer chemagic Technology
READ MOREThe EMPHASIS study
Here’s a study protocol about maternal pre-conceptional nutrition and children’s health that was written by Giriraj R. Chandak†, Matt J. Silver†, Ayden Saffari, Karen A. Lillycrop, Smeeta Shrestha, Sirazul Ameen Sahariah, Chiara Di Gravio, Gail Goldberg, Ashutosh Singh Tomar, Modupeh Betts, Sara Sajjadi, Lena Acolatse,…
READ MOREiSWAB-Blood Tested by MilliporeSigma
We are excited to add the MilliporeSigma GenElute(TM) Blood Kit to the list of extraction kits successfully validated for DNA isolation from iSWAB samples. The validation was performed by MilliporeSigma R&D using our iSWAB-Blood collection system for blood drops, with the quality of the purified…
READ MOREUniversity of Alabama Utilizes Mawi’s iSWAB-Protein for Frataxin Detection
Dr. Jill Butler from Dr. Marek Napierala’s lab at the University of Alabama Stem Cell Institute used our iSWAB-Protein non-invasive sample collection system for biomarker detection in buccal cells. Based on her data Dr. Butler had this to say about iSWAB-Protein: “We were pleasantly surprised with the…
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