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 the underlying molecular etiology of… read more →
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 for single nucleotide and indel… read more →
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 a study we published in… read more →
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.
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.
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.
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.
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, Michelle Fernandes, Leila Cheikh Ismail1,… read more →
“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
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… read more →