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Laura K. Conlin | Researchclopedia

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Laura K. Conlin

Children's Hospital of Philadelphia

164

Works

6,952

Citations

43

h-index

81

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Genomics and Rare Diseases Cancer Genomics and Diagnostics

Affiliations

Kennedy Krieger Institute2018–2018

University of Minnesota1989–1989

Children's Hospital of Philadelphia2008–2026

Johns Hopkins University2018–2018

University of Utah2018–2018

Top Works

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Laura M. Amendola,Gail P. Jarvik,et al.

2016574 citations

Prenatal Screening and Diagnostics

Genetics and Neurodevelopmental Disorders

Natural variation in human gene expression assessed in lymphoblastoid cells

Vivian G. Cheung,Laura K. Conlin,et al.

2003557 citations

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

Laura K. Conlin,Brian Thiel,et al.

2010501 citations

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

Tamim H. Shaikh,Xiaowu Gai,et al.

2009389 citations

Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between

Gail P. Jarvik,Laura M. Amendola,et al.

2014376 citations

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Laura M. Amendola,Michael O. Dorschner,et al.

2015362 citations

Diagnostic Implications of Excessive Homozygosity Detected by SNP-Based Microarrays: Consanguinity, Uniparental Disomy, and Recessive Single-Gene Mutations

Hutton M. Kearney,Joseph B. Kearney,et al.

2011194 citations

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Robert C. Green,Katrina A.B. Goddard,et al.

2016163 citations

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

Ragan Hart,Barbara B. Biesecker,et al.

2018160 citations