A5064074546- Hearing, Cochlea, Tinnitus, Genetics
- Chromosomal and Genetic Variations
- Cancer-related molecular mechanisms research
- Hearing Loss and Rehabilitation
- Hearing Impairment and Communication
- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- Connexins and lens biology
- RNA regulation and disease
- Genomics and Chromatin Dynamics
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Winter Sports Injuries and Performance
- Neuroscience of respiration and sleep
- Cryospheric studies and observations
- Sexual Differentiation and Disorders
- DNA Repair Mechanisms
- Urban, Neighborhood, and Segregation Studies
- Genomics and Rare Diseases
- Landslides and related hazards
- Indigenous Studies and Ecology
- Nicotinic Acetylcholine Receptors Study
- Genetics, Aging, and Longevity in Model Organisms
- Prenatal Screening and Diagnostics
- Genomics and Phylogenetic Studies
- Metabolomics and Mass Spectrometry Studies
Brigham and Women's Hospital
2018-2024
Michigan State University
2006-2019
Wayne State College
2019
Wayne State University
2019
City Of Hope National Medical Center
2019
University of Maine
2000
Eleven affected members of a large German-American family segregating recessively inherited, congenital, non-syndromic sensorineural hearing loss (SNHL) were found to be homozygous for the common 35delG mutation GJB2, gene encoding gap junction protein Connexin 26. Surprisingly, four additional with bilateral profound SNHL carried only single mutation. Previously, we demonstrated reduced expression both GJB2 and GJB6 mRNA from allele in trans that bearing these persons. Using array...
Abstract In recent years, there has been increased focus on exploring the role non-protein-coding genome plays in Mendelian disorders. One class of particular interest is long non-coding RNAs (lncRNAs), which recently implicated regulation diverse molecular processes. However, because lncRNAs do not encode protein, uncertainty regarding what constitutes a pathogenic lncRNA variant, and thus annotating such elements challenging. The Developmental Genome Anatomy Project (DGAP) similar projects...
Abstract A procedure is presented for using a simple flowline model to calculate the fraction of bed that thawed beneath present-day ice sheets, and therefore mapping thawed, frozen, melting freezing basal thermal zones. The based on proposition, easily demonstrated, variations in surface slope along flowlines are due primarily topography ice–bed coupling, where coupling sheet flow represented by fraction. This then applied central bands Antarctic accumulation rates, elevations mapped with...
ABSTRACT Infertility is one of the most common disorders for men reproductive age. To identify novel genetic etiologies, we studied a male with severe oligozoospermia and 46, XY,t(20;22)(q13.3;q11.2). We identified exclusive overexpression SYCP2 from der(20) allele that hypothesized to result enhancer adoption. Modeling dysregulation in budding yeast resulted disruption synaptonemal complex, cause defective spermatogenesis mammals. Exome sequencing infertile males revealed three heterozygous...
Previous studies identified a cluster of individuals with an autosomal recessive form deafness that reside in small region mid-Michigan. We hypothesized affected members from this community descend defined founder population. Using public records and personal interviews, we constructed genealogical database includes the their extended families as descendants 461 settlers who emigrated Eifel Germany between 1836 1875. The represents 13-generation pedigree 27,747 these settlers. Among...
Abstract In recent years, there has been increased focus on exploring the role non-protein-coding genome plays in Mendelian disorders. One class of particular interest is long non-coding RNAs (lncRNAs), which recently implicated regulation diverse molecular processes. However, because lncRNAs do not encode protein, uncertainty regarding what constitutes a pathogenic lncRNA variant, and thus annotating such elements challenging. The Developmental Genome Anatomy Project (DGAP) similar projects...
Previous studies identified a cluster of individuals with an autosomal recessive form deafness that reside in small region mid-Michigan. We hypothesized affected members from this community descend defined founder population. Using public records and personal interviews, we constructed genealogical database includes the their extended families as descendants 461 settlers who emigrated Eifel Germany between 1836 1875. The represents 13-generation pedigree 27,747 these settlers. Among...