Pinar Bayrak‐Toydemir

Author

Also Known As

David P. Bick, Deborah Barbouth, Gabriel F Batzli, Gill Bejerano, Lindsay C. Burrage, Olveen Carrasquillo, Pinar Bayrak-Toydemir, Pinar Bayrak‐Toydemir, Pınar Bayrak-Toydemir

Publications

1.4K

Citations

H-Index

Concepts

All Affiliations

University of Utah ARUP Laboratories (United States)ARUP Institute for Clinical and Experimental Pathology University Pathologists University of Pennsylvania

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	6	6	441
2	Molecular Genetics	3	3	279
3	Engineering	1	1	27
4	Health Sciences	1	1	77
5	Cell Biology	1	1	27

Pinar Bayrak‐Toydemir

Publications

956

Citations

H-Index

Page 1

	Year	Citations
Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia Viktor Lukacs, Jayanti Mathur, Rong Mao, Nature Communications	2015	300
A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7 Pinar Bayrak‐Toydemir, Jamie McDonald, Nurten Akarsu, American Journal of Medical Genetics Part A Allelic VariantHht3 LocusMendelian DisorderCytogeneticsVascular Anomalies	2006	235
<i>RASA1</i> somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome Colleen Macmurdo, Whitney Wooderchak‐Donahue, Pinar Bayrak‐Toydemir, American Journal of Medical Genetics Part A	2016	103
Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2 Minna Pekkinen, Lorenzo D. Botto, Petra Henning, JCI Insight SclerostinGeneticsGenetic EpidemiologyPathologyOrthopaedic Surgery	2019	77
The spectrum of <i>DNMT3A</i> variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies Wei Shen, Jennifer Heeley, Colleen M. Carlston, American Journal of Medical Genetics Part A	2017	48
Clinical and Analytical Sensitivities in Hereditary Hemorrhagic Telangiectasia Testing and a Report of de Novo Mutations Friederike Gedge, Jamie McDonald, Amit Phansalkar, Journal of Molecular Diagnostics Genetic TestingGenetic DisorderMedicineGeneticsNovo Mutations	2007	46
RASA1 analysis: Clinical and molecular findings in a series of consecutive cases Whitney Wooderchak‐Donahue, David A. Stevenson, Jamie McDonald, European Journal of Medical Genetics UrologyMolecular FindingsMedicineHistopathologyPathology	2011	39
Candidate locus analysis for PHACE syndrome Sheri Mitchell, Dawn H. Siegel, Joseph T.C. Shieh, American Journal of Medical Genetics Part A	2012	27
Inactivating mutations in Drosha mediate vascular abnormalities similar to hereditary hemorrhagic telangiectasia Xuan Jiang, Whitney Wooderchak‐Donahue, Jamie McDonald, Science Signaling EngineeringGeneticsVascular MalformationPathologyMolecular Genetics	2018	27
Parkes Weber syndrome associated with two somatic pathogenic variants in <i>RASA1</i> Josue Flores Daboub, Johanes Fred Grimmer, Alice Frigerio, Molecular Case Studies	2020	22

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