D. Corsmeier

发表

Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease

Peter White, Sara Fitzgerald-Butt, Kim L. McBride, 2016, Circulation. Cardiovascular genetics.

Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics

Peter White, P. White, B. Kelly, 2015, Genome Biology.

Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery

K. McBride, Gloria A. Zender, S. Fitzgerald-Butt, 2022, PLoS genetics.

Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics

P. White, B. Kelly, D. Corsmeier, 2015, Genome Biology.

Human CRMP4 mutation and disrupted Crmp4 expression in mice are associated with ASD characteristics and sexual dimorphism

Y. Goshima, G. Herman, M. Nishihara, 2017, Scientific Reports.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Adam P. DeLuca, Matthew S. Lebo, Janeen L Andorf, 2014, Genome Biology.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

Mahshid S. Azamian, J. Lupski, S. Leal, 2016, Human molecular genetics.

Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience

R. Wilson, E. Mardis, D. Koboldt, 2020, Cold Spring Harbor molecular case studies.

A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia

B. Adler, B. Kelly, P. White, 2017, International Journal of Pediatric Endocrinology.

Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth

Michael T. Zimmermann, Jeffrey N. Dudley, V. Magrini, 2021, Genetics in Medicine.

In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis

Daniel C. Koboldt, Peter White, Benjamin J. Kelly, 2018, Cold Spring Harbor molecular case studies.

Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve

K. McBride, S. Fitzgerald-Butt, P. White, 2014, BMC Medical Genomics.

Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve

K. McBride, S. Fitzgerald-Butt, P. White, 2014, BMC Medical Genomics.

Human CRMP4 mutation and disrupted Crmp4 expression in mice are associated with ASD characteristics and sexual dimorphism

Y. Goshima, G. Herman, M. Nishihara, 2017, Scientific Reports.

Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics

P. White, B. Kelly, D. Corsmeier, 2015, Genome Biology.

Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions

S. Hashimoto, D. Corsmeier, V. Jayaraman, 2023, Muscle & nerve.