E
E. Ann Black-Ziegelbein
Researcher at Roy J. and Lucille A. Carver College of Medicine
Publications - 6
Citations - 1218
E. Ann Black-Ziegelbein is an academic researcher from Roy J. and Lucille A. Carver College of Medicine. The author has contributed to research in topics: Genetic testing & Genetic heterogeneity. The author has an hindex of 6, co-authored 6 publications receiving 1029 citations. Previous affiliations of E. Ann Black-Ziegelbein include University of Iowa & University of Iowa Hospitals and Clinics.
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Journal ArticleDOI
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Catherine A. Brownstein,Alan H. Beggs,Nils Homer,Barry Merriman,Timothy W. Yu,Katherine C. Flannery,Elizabeth T. DeChene,Meghan C. Towne,Sarah K. Savage,Emily N. Price,Ingrid A. Holm,Lovelace J. Luquette,Elaine Lyon,Joseph A. Majzoub,Peter Neupert,David McCallie,Peter Szolovits,Huntington F. Willard,Nancy J. Mendelsohn,Renee Temme,Richard S. Finkel,Sabrina W. Yum,Livija Medne,Shamil R. Sunyaev,Ivan Adzhubey,Christopher A. Cassa,Paul I.W. de Bakker,Paul I.W. de Bakker,Hatice Duzkale,Piotr Dworzynski,William G. Fairbrother,Laurent C. Francioli,Birgit Funke,Monica A. Giovanni,Robert E. Handsaker,Kasper Lage,Matthew S. Lebo,Monkol Lek,Ignaty Leshchiner,Daniel G. MacArthur,Heather M. McLaughlin,Michael F. Murray,Tune H. Pers,Paz Polak,Soumya Raychaudhuri,Heidi L. Rehm,Rachel Soemedi,Nathan O. Stitziel,Sara Vestecka,Jochen Supper,Claudia Gugenmus,Bernward Klocke,Alexander Hahn,Max Schubach,Mortiz Menzel,Saskia Biskup,Peter Freisinger,Mario Deng,Martin Braun,Sven Perner,Richard J.H. Smith,Janeen L. Andorf,Jian Huang,Kelli K. Ryckman,Val C. Sheffield,Val C. Sheffield,Edwin M. Stone,Edwin M. Stone,Thomas B. Bair,E. Ann Black-Ziegelbein,Terry A. Braun,Benjamin W. Darbro,Adam P. DeLuca,Diana L. Kolbe,Todd E. Scheetz,Aiden Eliot Shearer,Rama Sompallae,Kai Wang,Alexander G. Bassuk,Erik Edens,Katherine D. Mathews,Steven A. Moore,Oleg A. Shchelochkov,Pamela Trapane,Aaron D. Bossler,Colleen A. Campbell,Jonathan W. Heusel,Anne E. Kwitek,Tara Maga,Karin Panzer,Thomas H. Wassink,Douglas J. Van Daele,Hela Azaiez,Kevin T. Booth,Nic Meyer,Michael M. Segal,Marc S. Williams,Gerard Tromp,Peter White,Donald J. Corsmeier,Sara Fitzgerald-Butt,Gail E. Herman,Devon Lamb-Thrush,Kim L. McBride,David L. Newsom,Christopher R. Pierson,Alexander T. Rakowsky,Aleš Maver,Luca Lovrečić,Anja Palandačić,Anja Palandačić,Borut Peterlin,Ali Torkamani,Anna Wedell,Anna Wedell,Anna Wedell,Mikael Huss,Andrey Alexeyenko,Jessica M. Lindvall,Måns Magnusson,Måns Magnusson,Måns Magnusson,Daniel Nilsson,Daniel Nilsson,Daniel Nilsson,Henrik Stranneheim,Henrik Stranneheim,Henrik Stranneheim,Fulya Taylan,Christian Gilissen,Alexander Hoischen,Bregje W.M. van Bon,Helger G. Yntema,Marcel R. Nelen,Weidong Zhang,Jason Sager,Lu Zhang,Kathryn Blair,Deniz Kural,Michael Cariaso,Greg Lennon,Asif Javed,Saloni Agrawal,Pauline C. Ng,Komal S. Sandhu,Shuba Krishna,Vamsi Veeramachaneni,Ofer Isakov,Eran Halperin,Eitan Friedman,Noam Shomron,Gustavo Glusman,Jared C. Roach,Juan Caballero,Hannah C. Cox,Denise E. Mauldin,Seth A. Ament,Lee Rowen,Daniel R. Richards,F. Anthony San Lucas,Manuel L. Gonzalez-Garay,C. Thomas Caskey,Yu Bai,Ying Huang,Fang Fang,Yan Zhang,Zhengyuan Wang,Jorge Barrera,Juan M. García-Lobo,Domingo González-Lamuño,Javier Llorca,María Cruz Rodríguez,Ignacio Varela,Martin G. Reese,Francisco M. De La Vega,Edward S. Kiruluta,Michele Cargill,Reece K. Hart,Jon M. Sorenson,Gholson J. Lyon,Gholson J. Lyon,David A. Stevenson,Bruce E. Bray,Barry Moore,Karen Eilbeck,Mark Yandell,Hongyu Zhao,Lin Hou,Xiaowei Chen,Xiting Yan,Mengjie Chen,Cong Li,Can Yang,Murat Gunel,Peining Li,Yong Kong,Austin C. Alexander,Zayed Albertyn,Kym M. Boycott,Dennis E. Bulman,Paul M. K. Gordon,A. Micheil Innes,Bartha Maria Knoppers,Jacek Majewski,Christian R. Marshall,Jillian S. Parboosingh,Sarah L. Sawyer,Mark E. Samuels,Jeremy Schwartzentruber,Isaac S. Kohane,David M. Margulies +210 more
TL;DR: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases and reveals a general convergence of practices on most elements of the analysis and interpretation process.
Journal ArticleDOI
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss
Christina M. Sloan-Heggen,Amanda O. Bierer,A. Eliot Shearer,Diana L. Kolbe,Carla Nishimura,Kathy L. Frees,Sean S. Ephraim,Seiji B. Shibata,Kevin T. Booth,Colleen A. Campbell,Paul T. Ranum,Amy E. Weaver,E. Ann Black-Ziegelbein,Donghong Wang,Hela Azaiez,Richard J.H. Smith,Richard J.H. Smith +16 more
TL;DR: Findings support the more efficient utilization of medical resources through the development of evidence-based algorithms for the diagnosis of hearing loss through targeted genomic enrichment and massively parallel sequencing.
Journal ArticleDOI
Copy number variants are a common cause of non-syndromic hearing loss
A. Eliot Shearer,Diana L. Kolbe,Diana L. Kolbe,Hela Azaiez,Christina M. Sloan,Kathy L. Frees,Amy E. Weaver,Erika T Clark,Carla Nishimura,Carla Nishimura,E. Ann Black-Ziegelbein,E. Ann Black-Ziegelbein,Richard J.H. Smith,Richard J.H. Smith +13 more
TL;DR: CNVs are an important cause of NSHL and their detection must be included in comprehensive genetic testing for hearing loss, as well as incorporated as part of the standard analysis pipeline.
Journal ArticleDOI
Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants
A. Eliot Shearer,Robert W. Eppsteiner,Kevin T. Booth,Sean S. Ephraim,Jose Gurrola,Allen C. Simpson,E. Ann Black-Ziegelbein,Swati Joshi,Harini Ravi,A. Giuffre,Scott Happe,Michael S. Hildebrand,Hela Azaiez,Yıldırım Ahmet Bayazıt,Mehmet Emin Erdal,Jose A. Lopez-Escamez,Irene Gazquez,Marta L. Tamayo,Nancy Gelvez,Greizy López Leal,Chaim Jalas,Josef Ekstein,Tao Yang,Shin-ichi Usami,Kimia Kahrizi,Niloofar Bazazzadegan,Hossein Najmabadi,Todd E. Scheetz,Terry A. Braun,Thomas L. Casavant,Emily M LeProust,Richard J.H. Smith,Richard J.H. Smith +32 more
TL;DR: Evaluation of reported pathogenic deafness variants using variant MAFs from multiple distinct ethnicities and sequenced by orthogonal methods provides a powerful filter for determining pathogenicity, and proposed MAF thresholds will facilitate clinical interpretation of variants identified in genetic testing for NSHL.
Journal ArticleDOI
Advancing genetic testing for deafness with genomic technology
A. Eliot Shearer,E. Ann Black-Ziegelbein,Michael S. Hildebrand,Michael S. Hildebrand,Robert W. Eppsteiner,Harini Ravi,Swati Joshi,Angelica C Guiffre,Christina M. Sloan,Christina M. Sloan,Scott Happe,Susanna D Howard,Barbara Novak,Adam P. DeLuca,Kyle R. Taylor,Todd E. Scheetz,Terry A. Braun,Thomas L. Casavant,William J Kimberling,Emily M LeProust,Emily M LeProust,Richard J.H. Smith,Richard J.H. Smith +22 more
TL;DR: The overall diagnostic rate was 42%, but this varied by clinical features from 0% for persons with asymmetric hearing loss to 56% for Persons with bilateral autosomal recessive NSHL, which highlights the need for further research on genetic deafness focused on novel gene identification and an improved understanding of the role of non-exonic mutations.