Amy E. Knight Johnson

Author

University of Chicago ORCID

Also Known As

Amy E Knight Johnson, Amy E. Johnson, Amy E. Knight Johnson

Publications

664

Citations

H-Index

Concepts

All Affiliations

University of Chicago Harvard University Children's Hospital of Philadelphia University of Pennsylvania Broad Institute

About

Amy E. Knight Johnson is an author at University of Chicago specializing in medicine, pathology, and public health.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	397
2	Public Health	2	2	86
3	Biostatistics	1	1	65
4	Cell Biology	1	1	26
5	Diabetes	1	1	21

Amy E. Knight Johnson

Publications

484

Citations

H-Index

Page 1

	Year	Citations
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar Steven M. Harrison, Jill S. Dolinsky, Amy E. Knight Johnson, Genetics in Medicine Allelic VariantVariant InterpretationsClinical TranslationMedicinePathology	2017	242
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome Sarah E. Sheppard, Ian M. Campbell, Margaret Harr, American Journal of Medical Genetics Part A	2021	66
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach Steven M. Harrison, Jill Dolinksy, Wenjie Chen, Human Mutation Genetic EpidemiologyDiagnosisPathologyDatabasesClinical Laboratories	2018	65
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals Kai Lee Yap, Amy E. Knight Johnson, David S. Fischer, Genetics in Medicine Genetic DisorderInherited Metabolic DiseaseCongenital HyperinsulinismPathologyDermatology	2018	64
A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding Patrick R. Blackburn, Alexander Tischer, Michael T. Zimmermann, Journal of Biological Chemistry Protein FunctionSignal TransductionAnkyrin RepeatAbnormal ProteinGenetic Disorder	2017	26
GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants May Sanyoura, Lisa R. Letourneau, Amy E. Knight Johnson, Diabetes Research and Clinical Practice Metabolic SyndromeDiabetes ManagementDiabetes EpidemiologyInsulin ManagementDiabetes	2019	21

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