Explanipedia

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time Open

Kezang Tshering, Marina T. DiStefano, Andrea M. Oza, Pamela Ajuyah, Ryan Webb , et al. · 2025

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time Open

Kezang Tshering, Marina T. DiStefano, Andrea M. Oza, Pamela Ajuyah, Ryan Webb , et al. · 2025

Genes classified as Moderate and Strong were likely to build evidence and change their classification over time, whereas Limited were unlikely to gain evidence. These findings highlight the critical role of recuration in ensuring that gene…

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes Open

Courtney E. French, Nancy C. Andrews, Alan H. Beggs, Philip M. Boone, Catherine A. Brownstein , et al. · 2024

Boston Children’s Hospital has established a genomic sequencing and analysis research initiative to improve clinical care for pediatric rare disease patients. Through the Children’s Rare Disease Collaborative (CRDC), the hospital offers CL…

Microbial DNA extraction method for avian feces and preen oil from diverse species Open

Austin Russell, Margaret A. Kenna, Alex Van Huynh, Amber M. Rice · 2024

As DNA sequencing technology continues to rapidly improve, studies investigating the microbial communities of host organisms (i.e., microbiota) are becoming not only more popular but also more financially accessible. Across many taxa, micr…

Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders Open

Rebecca Andersen, Ibrahim F. Alkuraya, Abna Ajeesh, T. Sakamoto, Elijah L. Mena , et al. · 2024

In recent years, there has been increased focus on exploring the role the non-protein-coding genome plays in Mendelian disorders. One class of particular interest is long non-coding RNAs (lncRNAs), which has recently been implicated in the…

Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangements Open

Rebecca Andersen, Ibrahim F. Alkuraya, Abna Ajeesh, T. Sakamoto, Elijah L. Mena , et al. · 2024

In recent years, there has been increased focus on exploring the role the non-protein-coding genome plays in Mendelian disorders. One class of particular interest is long non-coding RNAs (lncRNAs), which has recently been implicated in the…

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules Open

Daniel O Dodd, Sabrina Méchaussier, Patricia L. Yeyati, Fraser McPhie, Jacob R. Anderson , et al. · 2024

Tubulin, one of the most abundant cytoskeletal building blocks, has numerous isotypes in metazoans encoded by different conserved genes. Whether these distinct isotypes form cell type– and context-specific microtubule structures is poorly …

Microbial DNA extraction method for avian feces and preen oil from diverse species Open

Austin Russell, Margaret A. Kenna, Alex Van Huynh, Amber D Rice · 2024

As DNA sequencing technology continues to rapidly improve, studies investigating the microbial communities of host organisms (i.e., microbiomes) are becoming not only more popular but also more financially accessible. Across many taxa, mic…

PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss Open

Shelby Redfield, Pedro De‐la‐Torre, Mina Zamani, Hanjun Wang, Hina Khan , et al. · 2024

Identification of genes associated with nonsyndromic hearing loss is a crucial endeavor given the substantial number of individuals who remain without a diagnosis after even the most advanced genetic testing. PKHD1L1 was established as nec…

Models of classroom assessment for course-based research experiences Open

David I. Hanauer, Tong Zhang, Mark Graham, Sandra D. Adams, Yesmi Patricia Ahumada‐Santos , et al. · 2023

Course-based research pedagogy involves positioning students as contributors to authentic research projects as part of an engaging educational experience that promotes their learning and persistence in science. To develop a model for asses…

70 Uncovering Comorbid Neuropsychological Disorders in Children with Unilateral Hearing Loss Under Consideration for Cochlear Implantation Open

Rachel Landsman, Amanda Griffin, Matthew Fasano-McCarron, David Faller, Margaret A. Kenna , et al. · 2023

Objective: Children with unilateral hearing loss (UHL) have difficulty hearing in noisy environments and localizing sounds, impacting learning and social opportunities across contexts. Using a visible device like a cochlear implant (CI) ma…

PKHD1L1, A Gene Involved in the Stereocilia Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss Open

Shelby Redfield, Pedro De‐la‐Torre, Mina Zamani, Hanjun Wang, Hina Khan , et al. · 2023

Identification of genes associated with nonsyndromic hearing loss is a crucial endeavor given the substantial number of individuals who remain without a diagnosis after even the most advanced genetic testing. PKHD1L1 was established as nec…

High Efficiency Microbial DNA Extraction Method for Avian Feces and Preen Oil Open

Austin Russell, Alex Van Huynh, Margaret A. Kenna, Amber D Rice · 2023

As sequencing technology continues to rapidly improve, studies investigating the microbial communities of host organisms (i.e., microbiomes) are becoming not only more popular but also more financially accessible. Across many taxa, microbi…

Programming Levels and Speech Perception in Pediatric Cochlear Implant Recipients With Enlarged Vestibular Aqueduct or GJB2 Mutation Open

Kelly N. Jahn, Charlotte Morse-Fortier, Amanda Griffin, David Faller, Michael S. Cohen , et al. · 2023

Objective To determine the relationship between hearing loss etiology, cochlear implant (CI) programming levels, and speech perception performance in a large clinical cohort of pediatric CI recipients. Study Design Retrospective chart revi…

P174: Comprehensive newborn hearing screening in generation genome through SEQaBOO (SEQuencing a Baby for an Optimal Outcome)* Open

Anne Giersch, Sami S. Amr, Kevin T. Booth, Matthew Hoi Kin Chau, Yvonne Chekaluk , et al. · 2023

Congenital Cytomegalovirus Screening in Massachusetts Birth Hospitals: A Statewide Survey Open

Cheryl K. Glovsky, Kendall Carroll, Naomi Clark, Peter Colleran, Vanessa Colleran , et al. · 2022

This study sought to assess the current state of screening for congenital cytomegalovirus infection in newborns among birth hospitals and newborn nurseries in the state of Massachusetts. A survey assessing hospital protocols for cytomegalo…

TUBB4Bvariants specifically impact ciliary function, causing a ciliopathic spectrum Open

Sabrina Méchaussier, Daniel O Dodd, Patricia L. Yeyati, Fraser McPhie, Thomas Attard , et al. · 2022

Cilia are small microtubule-based structures found on the surface of most mammalian cells, which have key sensory and sometimes motile functions. Primary ciliary dyskinesia (PCD) is a type of ciliopathy caused by defects in motile cilia. T…

Otolaryngologic Manifestations of Trisomy 13 and Trisomy 18 in Pediatric Patients Open

Jalen Benson, Candace Stewart, Margaret A. Kenna, A. Eliot Shearer · 2022

Objective The survival rate of patients with trisomy 13 and trisomy 18 has increased dramatically over the past two decades. We sought to comprehensively describe the otolaryngologic clinical characteristics and procedures required for the…

Peripheral Vestibular Dysfunction Is a Common Occurrence in Children With Non-syndromic and Syndromic Genetic Hearing Loss Open

Alicia Wang, A. Eliot Shearer, Guang Wei Zhou, Margaret A. Kenna, Dennis S. Poe , et al. · 2021

Hearing loss (HL) is the most common sensory deficit in humans and is frequently accompanied by peripheral vestibular loss (PVL). While often overlooked, PVL is an important sensory dysfunction that may impair development of motor mileston…

Comprehensive medical evaluation of pediatric bilateral sensorineural hearing loss Open

Suat Kılıç, Malek H. Bouzaher, Michael S. Cohen, Judith E. C. Lieu, Margaret A. Kenna , et al. · 2021

Children with bilateral sensorineural hearing loss (SNHL) should undergo a comprehensive medical evaluation to determine the underlying etiology and help guide treatment and counseling. In this article, we review the indications and ration…

Neuroimaging in Kabuki syndrome and another KMT2D‐related disorder Open

Rachel Stadelmaier, Margaret A. Kenna, Devon Barrett, Thomas E. Mullen, Olaf A. Bodamer , et al. · 2021

Recognition of distinct phenotypic features is an important component of genetic diagnosis. Although CHARGE syndrome, Kabuki syndrome, and a recently delineated KMT2D Ex 38/39 allelic disorder exhibit significant overlap, differences on ne…

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss Open

Mayher Patel, Marina T. DiStefano, Andrea M. Oza, Madeline Y. Hughes, Emma H. Wilcox , et al. · 2021

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish Open

Sheng‐Jia Lin, Barbara Vona, Patrícia Gonçalves Barbalho, Rauan Kaiyrzhanov, Reza Maroofian , et al. · 2021

Hiding in plain sight: genetic deaf-blindness is not always Usher syndrome Open

Genevieve Medina, Julia Perry, Andrea M. Oza, Margaret A. Kenna · 2021

Hearing loss (HL) is the most common congenital sensory impairment. Usher syndrome (USH) is the leading genetic etiology of congenital deafness combined with progressive vision loss, and individuals presenting with these symptoms are often…

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss Open

Mayher Patel, Marina T. DiStefano, Andrea M. Oza, Madeline Y. Hughes, Emma H. Wilcox , et al. · 2021

Purpose The ClinGen Variant Curation Expert Panels (VCEPS) provide disease-specific rules for accurate variant interpretation. Using hearing loss-specific American College of Medical Genetics/Association for Molecular Pathology (HL-specifi…

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing Open

Yoel Hirsch, Chayada Tangshewinsirikul, Kevin T. Booth, Héla Azaiez, Devorah Yefet , et al. · 2021

Selective excision of the centromere chromatin complex from Saccharomyces cerevisiae Open

Margaret A. Kenna, Enrique Amaya, Kerry Bloom · 2020

We have taken advantage of the known structural parameters associated with centromere DNA in vivo to construct a CEN fragment that can be selectively excised from the chromatin DNA with restriction endonucleases. CEN3 DNA is organized in c…

Genomic diversity of bacteriophages infecting Microbacterium spp Open

Deborah Jacobs‐Sera, Lawrence Abad, Richard M. Alvey, Kirk R. Anders, Haley G. Aull , et al. · 2020

The bacteriophage population is vast, dynamic, old, and genetically diverse. The genomics of phages that infect bacterial hosts in the phylum Actinobacteria show them to not only be diverse but also pervasively mosaic, and replete with gen…

Genetics of pediatric hearing loss: A functional perspective Open

Harmon Khela, Margaret A. Kenna · 2020

Objectives This article reviews the current role of genetics in pediatric hearing loss (HL). Methods A review of the current literature regarding the genetic basis of HL in children was performed. Results To date, 119 nonsyndromic genes ha…

Association of Blood Type With Postsurgical Mucosal Bleeding in Pediatric Patients Undergoing Tonsillectomy With or Without Adenoidectomy Open

Natasha M. Archer, Peter W. Forbes, Jenna M. Dargie, Juliana Manganella, Greg R. Licameli , et al. · 2020

Type O blood was not a risk factor associated with hemorrhage after tonsillectomy with or without adenoidectomy despite lower baseline von Willebrand factor antigen and von Willebrand factor ristocetin-cofactor values in children with BT O…

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