Elizabeth L. Fieg - Concepedia

Author

Elizabeth L. Fieg

Also Known As

Alica M. Goldman, Anne Hing, Brent L Fogel, Brent L. Fogel, Carlos Ferreira, Conor Fearon, Cynthia M Cooper, Cynthia M. Cooper, E Fieg, E. Fieg

Publications

1.3K

Citations

H-Index

Concepts

All Affiliations

Boston Children's Hospital Baylor College of Medicine Columbia University University of Utah National Institutes of Health

About

Elizabeth L. Fieg is an author at Boston Children's Hospital specializing in medicine, genetics, and neuroscience.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	7	7	275
2	Social Sciences	3	3	111
3	Education	1	1	36
4	Counseling	1	1	36
5	Family Medicine	1	1	36

Elizabeth L. Fieg

Publications

446

Citations

H-Index

Page 1

	Year	Citations
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia Oguz Kanca, Jonathan C. Andrews, Pei-Tseng Lee, The American Journal of Human Genetics Wdr37 Are AssociatedMendelian DisorderGenetic DisorderGeneticsDe Novo Variants	2019	55
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects Andrea Accogli, Sara Calabretta, Judith St‐Onge, The American Journal of Human Genetics Neurodevelopmental DisordersDevelopmental AnomalyDevelopmental BiologyMendelian DisorderGenetic Disorder	2019	50
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids Sacha Ferdinandusse, Kirsty McWalter, Heleen te Brinke, Genetics in Medicine	2020	49
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata, Genetics in Medicine Neurobiology Of DiseaseCorticobasal DegenerationNeurological DisorderIsolated Neurological ManifestationsPathology	2021	47
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science Kelly Schoch, Cecilia Esteves, Anna Bican, Genetics in Medicine Undiagnosed Diseases NetworkTranslational BioinformaticsMedicineGeneticsGenetic Epidemiology	2020	39
Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era Ellen F. Macnamara, Kelly Schoch, Emily Glanton, Journal of Genetic Counseling CounselingFamily MedicineGenetic TestingContinued ValueGenetic Counseling Literature	2019	36
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes Lindsay C. Burrage, John J. Reynolds, Nissan Baratang, The American Journal of Human Genetics Allelic VariantGenetic DisorderGeneticsBi-allelic VariantsPathology	2019	34
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases Shilpa N. Kobren, Dustin Baldridge, Matt Velinder, Genetics in Medicine	2021	32
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain Felix Marbach, Georgi Stoyanov, Florian Erger, Genetics in Medicine	2021	27
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11 Thomas A. Ravenscroft, Jennifer B. Phillips, Elizabeth L. Fieg, Genetics in Medicine	2021	26

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