Cheryl Cytrynbaum - Concepedia

Author

Cheryl Cytrynbaum

Also Known As

Beatty, B, Butter, C., C CYTRYNBAUM, C. Cytrynbaum, Cheryl Cytrynbaum, Cheryl S Cytrynbaum, Cheryl S. Cytrynbaum, Cytrynbaum, Cheryl

Publications

7.7K

Citations

H-Index

Concepts

All Affiliations

Hospital for Sick Children University of Toronto SickKids Foundation Mount Sinai Hospital McMaster University

About

Cheryl Cytrynbaum is an author at Hospital for Sick Children specializing in medicine, genetics, and genomics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	13	13	2.4K
2	Arts	2	2	100
3	Education	1	1	43
4	Engineering	1	1	18
5	Health Sciences	1	1	114

Cheryl Cytrynbaum

Publications

7.2K

Citations

H-Index

Page 1

	Year	Citations
Functional impact of global rare copy number variation in autism spectrum disorders Dalila Pinto, Alistair T. Pagnamenta, Lambertus Klei, Nature Autism Spectrum DisordersSyndromic AutismGeneticsPsychiatric GeneticsAutism	2010	2K
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder Ryan K. C. Yuen, Daniele Merico, Matt Bookman, Nature Neuroscience Next-generation SequencingGeneticsPsychiatric GeneticsMolecular BiologyAutism	2017	910
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak, Nature Genetics Mendelian DisorderGenetic DisorderMedicineGeneticsPathogenesis	2012	737
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test Anath C. Lionel, Gregory Costain, Nasim Monfared, Genetics in Medicine	2017	551
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling, npj Genomic Medicine	2016	374
<i>RASA1</i>Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation Nicole Revençu, Laurence M. Boon, Antonella Mendola, Human Mutation	2013	282
NSD1 mutations generate a genome-wide DNA methylation signature Sanaa Choufani, Cheryl Cytrynbaum, Brian Hon‐Yin Chung, Nature Communications	2015	206
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions Darci T. Butcher, Cheryl Cytrynbaum, Andrei L. Turinsky, The American Journal of Human Genetics	2017	202
A large data resource of genomic copy number variation across neurodevelopmental disorders Mehdi Zarrei, Christie L. Burton, Worrawat Engchuan, npj Genomic Medicine	2019	189
Elastin: mutational spectrum in supravalvular aortic stenosis Kay Metcalfe, Agnes K Rucka, Leslie Smoot, European Journal of Human Genetics Cardiovascular DiseaseValve DiseaseVascular BiologyMutational SpectrumValvular Heart Disease	2000	174

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