D
Donald J. Corsmeier
Researcher at Nationwide Children's Hospital
Publications - 9
Citations - 579
Donald J. Corsmeier is an academic researcher from Nationwide Children's Hospital. The author has contributed to research in topics: Exome sequencing & Internal medicine. The author has an hindex of 4, co-authored 5 publications receiving 536 citations. Previous affiliations of Donald J. Corsmeier include Ohio State University & The Research Institute at Nationwide Children's Hospital.
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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
Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics.
Benjamin J. Kelly,James Fitch,Yangqiu Hu,Donald J. Corsmeier,Huachun Zhong,Amy Wetzel,Russell D Nordquist,David L. Newsom,Peter White,Peter White +9 more
TL;DR: Churchill, a balanced regional parallelization strategy, overcomes challenges, fully automating the multiple steps required to go from raw sequencing reads to variant discovery, allowing computationally efficient analysis of a high-depth whole genome sample in less than two hours.
Journal ArticleDOI
Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.
Catherine E. Cottrell,Catherine E. Cottrell,Nicole R. Bender,Michael T. Zimmermann,Jonathan W. Heusel,Meagan Corliss,Michael J. Evenson,Vincent Magrini,Donald J. Corsmeier,Matthew Avenarius,Jeffrey N. Dudley,Jeffrey N. Dudley,Jennifer J. Johnston,Marjorie J. Lindhurst,Katinka Vigh-Conrad,Olivia M. T. Davies,Carrie C. Coughlin,Ilona J. Frieden,Megha M. Tollefson,Andrea L. Zaenglein,Heather Ciliberto,Laura L. Tosi,Robert K. Semple,Leslie G. Biesecker,Beth A. Drolet +24 more
TL;DR: Cottrell et al. as discussed by the authors investigated PIK3R1 in a large cohort with vascular anomalies and identified an additional 16 individuals with somatic mosaic variants in the PI3K-AKT pathway.
Journal ArticleDOI
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Cecelia R. Miller,Kristy Lee,Ruthann Pfau,Ruthann Pfau,Shalini C. Reshmi,Shalini C. Reshmi,Donald J. Corsmeier,Sayaka Hashimoto,Ashita Dave-Wala,Vijayakumar Jayaraman,Daniel C. Koboldt,Daniel C. Koboldt,Theodora Matthews,Danielle Mouhlas,Maggie Stein,Aimee McKinney,Thomas Grossman,Benjamin J. Kelly,Peter White,Peter White,Vincent Magrini,Vincent Magrini,Richard K. Wilson,Richard K. Wilson,Elaine R. Mardis,Elaine R. Mardis,Catherine E. Cottrell,Catherine E. Cottrell +27 more
TL;DR: The potential and importance of detecting mosaicism in ES is highlighted, particularly with increased sequence depth attainable from ES, as well as the need to assess diagnostic yield and characteristics of causal variants.
Journal ArticleDOI
A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia.
Juan F. Sotos,Juan F. Sotos,Katherine E. Miller,Donald J. Corsmeier,Naomi J. Tokar,Benjamin J. Kelly,Vijay Nadella,Huachun Zhong,Amy Wetzel,Brent Adler,Brent Adler,Chack-Yung Yu,Chack-Yung Yu,Peter White,Peter White +14 more
TL;DR: This case highlights an individual with VMS, characterized by compound heterozygous variants in DCHS1, which may provide additional information on the phenotypic spectrum of V MS, including hypog onadotropic hypogonadism and amazia.