Pınar Bayrak‐Toydemir

Author

Also Known As

Alan H. Beggs, Bayrak-Toydemir P, Bayrak-Toydemir, P., Bayrak-Toydemir, Pinar, Beverly Berg-Rood, Dave Viskochi, Dave Viskochil, Deborah Barbouth, Donald Basel, Elizabeth A. Burke

154

Publications

6.3K

Citations

H-Index

Concepts

All Affiliations

University of Utah ARUP Laboratories (United States)ARUP Institute for Clinical and Experimental Pathology Harvard University Stanford University

About

Pınar Bayrak‐Toydemir is an author at University of Utah specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	21	31	3K
2	Public Health	6	6	238
3	Social Sciences	3	3	84
4	Engineering	1	1	86
5	Management	1	1	55

Pınar Bayrak‐Toydemir

Publications

4.7K

Citations

H-Index

Page 1

	Year	Citations
ACMG clinical laboratory standards for next-generation sequencing Heidi L. Rehm, Sherri J. Bale, Pınar Bayrak‐Toydemir, Genetics in Medicine Translational MedicineDna SequencingSequencingMedicineNext-generation Sequencing	2013	910
BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia Whitney Wooderchak‐Donahue, Jamie McDonald, Brendan O’Fallon, The American Journal of Human Genetics Vascular-anomaly SyndromeMendelian DisorderHereditary Hemorrhagic TelangiectasiaGenetic DisorderGenetics	2013	302
Pathogenic variants that alter protein code often disrupt splicing Rachel Soemedi, Kamil J. Cygan, Christy L. Rhine, Nature Genetics GeneticsPathogenesisProtein CodeGenomicsMedicine	2017	252
Genotype–phenotype correlation in hereditary hemorrhagic telangiectasia: Mutations and manifestations* Pınar Bayrak‐Toydemir, Jamie McDonald, Boaz A. Markewitz, American Journal of Medical Genetics Part A	2006	213
EIF2AK4 Mutations in Pulmonary Capillary Hemangiomatosis D. Hunter Best, Kelli Sumner, Eric D. Austin, CHEST Journal PathologyEif2ak4 MutationsPulmonary FibrosisVascular BiologyPulmonary Medicine	2013	212
A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome Reha M. Toydemir, Anna E. Brassington, Pınar Bayrak‐Toydemir, The American Journal of Human Genetics Developmental AnomalyNovel MutationGenetic DisorderGeneticsPathology	2006	158
Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG) Lora Jh Bean, Birgit Funke, Colleen M. Carlston, Genetics in Medicine Technical StandardDna SequencingMedicineGeneticsAmerican College	2019	152
Effective variant filtering and expected candidate variant yield in studies of rare human disease Brent S. Pedersen, Joe Brown, Harriet Dashnow, npj Genomic Medicine	2021	121
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya, Genetics in Medicine Genome-wide Association StudyGenetic AnalysisNext-generation SequencingGeneticsGenomic Testing	2023	112
Paternal uniparental disomy of chromosome 14: Confirmation of a clinically‐recognizable phenotype David A. Stevenson, Arthur R. Brothman, Zhong Chen, American Journal of Medical Genetics Part A	2004	96

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