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Leah Tyzinski · SciRah

Researcher profile · Semantic Scholar

Leah Tyzinski

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Leah Tyzinski — researcher profile on SciRah

h-index: 6
Works: 15
Citations: 221

Most-cited papers

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations
A. Gkourogianni, M. Andrew, Leah Tyzinski, M. Crocker +32 more
2017Journal of Clinical Endocrinology and Metabolism131 citations Open access
Semantic Scholar
Pharmacokinetics of IGF-1 in PAPP-A2-Deficient Patients, Growth Response, and Effects on Glucose and Bone Density
Catalina Cabrera-Salcedo, T. Mizuno, Leah Tyzinski, M. Andrew +7 more
2017Journal of Clinical Endocrinology and Metabolism27 citations Open access
Semantic Scholar
Developmental adaptive immune defects associated with STAT5B deficiency in three young siblings
Corinne L Foley, Sareea Alremeithi, C. Towe, A. Dauber +4 more
2020Journal of Clinical Immunology16 citations Open access
Semantic Scholar
Treatment of Short Stature in Aggrecan Deficient Patients with Recombinant Human Growth Hormone: One-Year Response.
G. Muthuvel, A. Dauber, Eirene Alexandrou, Leah Tyzinski +3 more
2021Journal of Clinical Endocrinology and Metabolism14 citations Open access
Semantic Scholar
Clinical phenotype and musculoskeletal characteristics of patients with aggrecan deficiency
Eirene Alexandrou, A. Dauber, Leah Tyzinski, V. Hwa +7 more
2022American Journal of Medical Genetics. Part A9 citations
Semantic Scholar
Treatment of Short Stature in Aggrecan-deficient Patients With Recombinant Human GH: 3-year Response
G. Muthuvel, Andrew Dauber, Eirene Alexandrou, Leah Tyzinski +2 more
2024Journal of the Endocrine Society7 citations Open access
Semantic Scholar
Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels
Catalina Cabrera-Salcedo, C. Hawkes, Leah Tyzinski, M. Andrew +8 more
2019Hormone Research in Paediatrics6 citations Open access
Semantic Scholar
Isolated Growth Hormone Deficiency due to the R183H Mutation in GH1: Clinical Analysis of a Four-Generation Family
Catalina Cabrera-Salcedo, Amy S. Shah, M. Andrew, Leah Tyzinski +4 more
2017Clinical Endocrinology4 citations Open access
Semantic Scholar
Five-Year Therapy with Recombinant Human Insulin-Like Growth Factor-1 in a Patient with PAPP-A2 Deficiency
G. Muthuvel, A. Dauber, Eirene Alexandrou, Leah Tyzinski +3 more
2023Hormone Research in Paediatrics3 citations
Semantic Scholar
Algorithm-Driven Electronic Health Record Notification Enhances the Detection of Turner Syndrome
Eirene Alexandrou, Catalina Cabrera-Salcedo, Guillaume Labilloy, Leah Tyzinski +5 more
2019Jornal de Pediatria3 citations Open access
Semantic Scholar
OR07-6 Integrating Targeted Bioinformatic Searches of the Electronic Health Records and Genomic Testing Identifies a Molecular Diagnosis in Three Patients with Undiagnosed Short Stature
Catalina Cabrera Salcedo, Guillaume Labilloy, Shayne F. Andrew, V. Hwa +5 more
2019Journal of the Endocrine Society1 citations Open access
Semantic Scholar
Cross-sectional Evaluation Of Musculoskeletal Outcomes & Physical Activity Levels In Patients With Aggrecan Deficiency
Paul J. Gubanich, Eirene Alexandrou, Hee Kim, Leah Tyzinski +3 more
20200 citations
Semantic Scholar
MON-249 Algorithm-Driven Electronic Health Record Notification Enhances the Detection of Turner Syndrome
Eirene Alexandrou, Catalina Cabrera-Salcedo, Guillaume Labilloy, Leah Tyzinski +5 more
2019Journal of the Endocrine Society0 citations Open access
Semantic Scholar
Whole Exome Sequencing Identifies a GH1 Gene Mutation Causing Familial Isolated Growth Hormone Deficiency with Normal Peak Growth Hormone Concentrations
Catalina Salcedo, V. Hwa, Leah Tyzinski, M. Andrew +2 more
20160 citations
Semantic Scholar
PAPP-A2 Gene Mutation Effects on Glucose Metabolism and Bone Mineral Density and Response to Therapy with Recombinant Human IGF-I
Catalina Salcedo, V. Hwa, Leah Tyzinski, M. Andrew +3 more
20160 citations
Semantic Scholar

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Eirene Alexandrou

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