Concepedia

Author

Darlene Riethmaier

Geisinger Health System

Also Known As

D. Riethmaier, Darlene Riethmaier

11

Publications

379

Citations

8

H-Index

29

Concepts

All Affiliations

Geisinger Health SystemMayo ClinicEmory UniversityLurie Children's HospitalInvitae (United States)
DR

About

Darlene Riethmaier is an author at Geisinger Health System specializing in genetic epidemiology, public health, and medicine.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

3

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128

2

Public Health

3

3

128

3

Biostatistics

1

1

13

4

Epidemiology

1

1

25

5

Genomic Medicine

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13

Darlene Riethmaier

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7

Publications

361

Citations

7

H-Index

YearCitations

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy

Rebecca Truty, Nila Patil, Raman Sankar,

Epilepsia Open

2019

118

Chromosomal microarray impacts clinical management

Erin Rooney Riggs, Karen E. Wain, Darlene Riethmaier,

Clinical Genetics

2013

90

Multigene Panel Testing in a Large Cohort of Adults With Epilepsy

Dianalee McKnight, Sara L. Bristow, Rebecca Truty,

Neurology Genetics

2021

53

Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings.

Dianalee McKnight, Sara L. Bristow, Rebecca Truty,

PubMed

2022

32

Towards a Universal Clinical Genomics Database: The 2012 International Standards for Cytogenomic Arrays Consortium Meeting

Erin Rooney Riggs, Karen E. Wain, Darlene Riethmaier,

Human Mutation

2013

30

Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR

Keith Nykamp, Rebecca Truty, Darlene Riethmaier,

Human Mutation

2021

25

The Laboratory‐Clinician Team: A Professional Call to Action to Improve Communication and Collaboration for Optimal Patient Care in Chromosomal Microarray Testing

Karen E. Wain, Erin Rooney Riggs, Karen Hanson,

Journal of Genetic Counseling

2012

13

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