Mawi DNA Technologies Announces New Distribution Partnership…
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A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss
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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Exome Sequencing of Two Siblings with Sporadic Autism Spectrum Disorder and Severe Speech Sound Disorder Suggests Pleiotropic and Complex Effects
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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Late-onset lattice corneal dystrophy associated TGFBI p.H626R mutation in members of a 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 MOREDe novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness
Here’s a research article about dnon-syndromic inner ear malformations and deafness that was written by Isabelle Schrauwen, Elina Kari, Jacob Mattox, Lorida Llaci, Joanna Smeeton, Marcus Naymik, David W. Raible, James A. Knowles, J. Gage Crump, Matthew J. Huentelman, Rick A. Friedman.
READ MOREDopaminergic Gene Methylation is Associated with Cognitive Performance in a Childhood Monozygotic Twin Study
Here’s an research paper about dopaminergic gene methylation that was written by Candace R. Lewis ORCID Icon, Adrienne Henderson-Smith, Reagan S. Breitenstein ORCID Icon, Hayley A. Sowards, Ignazio S. Piras, Matthew J. Huentelman, Leah D. Doane & Kathryn Lemery-Chalfant.
READ MOREEvaluation of TGFBI corneal dystrophy and molecular diagnostic testing
Here’s an review article about TGFBI corneal dystrophy that was written by Connie Chao-Shern, Lawrence A. DeDionisio, Jun-Heok Jang, Clara C. Chan, Vance Thompson, Kathleen Christie, M. Andrew Nesbit & C. B. Tara McMullen. In this paper they mention using the Mawi DNA iSWAB collection kit.
READ MORETrauma-induced exacerbation of epithelial-stromal TGFBI lattice corneal dystrophy
Here’s a paper about detection of Oxidative Stress in Buccal Cells using iSWAB Tubes that was written by the Canadian Ophthalmological Society. In this paper they mention using an iSWAB collection kit.
READ MOREDeep clinical and biological phenotyping of the preterm birth and small for gestational age syndromes: The INTERBIO-21 Newborn Case-Control Study protocol
Here’s a study protocol about deep clinical and biological phenotyping of the preterm birth and small for gestational age syndromes that was written by Stephen H. Kennedy, Cesar G. Victora, Rachel Craik, Stephen Ash, Fernando C. Barros, Hellen C. Barsosio, James A. Berkley, Maria Carvalho,…
READ MOREMaximizing the amount of DNA recovered; a study of Mawi DNA Technologies’ iSWAB-ID collection device for forensic science application
Read to learn more about the iSWAB-ID Thesis “Maximizing the amount of DNA recovered: a study of Mawi DNA Technologies’ iSWAB-ID collection device for forensic science application” by Michelle Gordon, Boston University
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