Sophia Ceulemans - Concepedia

Author

Sophia Ceulemans

Also Known As

S. Ceulemans, Sophia Ceulemans

Publications

356

Citations

H-Index

Concepts

All Affiliations

Sophia Ceulemans is an author at Children's Hospital of Philadelphia specializing in medicine, genetics, and molecular genetics.

#	Concept	H-Index	Publications	Citations
1	Medicine	3	3	195
2	Molecular Genetics	2	2	98
3	Social Sciences	1	1	97
4	Neuroscience	1	1	97
5	Pathology	1	1	14

Sophia Ceulemans

Publications

222

Citations

H-Index

Page 1

	Year	Citations
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes, The American Journal of Human Genetics Neurodevelopmental DisordersDevelopmental BiologyHeterozygous VariantsKmt2e CauseGenetics	2019	97
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism Frederike L. Harms, Katta M. Girisha, Andrew A. Hardigan, The American Journal of Human Genetics Facial DysmorphismGenetic DisorderCause Intellectual DisabilityGeneticsMolecular Genetics	2016	84
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
Analysis of current testing practices for biallelic <i><scp>MUTYH</scp></i> mutations in <i><scp>MUTYH</scp></i>‐associated polyposis Michelle Landon, Sophia Ceulemans, Devki S. Saraiya, Clinical Genetics Founder MutationAllelic VariantGenetic TestingOncologyMutation-based Testing	2014	14

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