Paul R. Mark - Concepedia

Author

Paul R. Mark

Spectrum Health ORCID

Also Known As

Gretchen Parsons, Kathleen Dinh, Mark, Paul, Paul Mark, Paul R Mark, Paul R. Mark, Saga Elise Eiset, Vijaya Kancherla

Publications

Citations

H-Index

Concepts

All Affiliations

Spectrum Health Children's Hospital of Philadelphia Corewell Health Blodgett Hospital Inserm Harvard University

About

Paul R. Mark is an author at Spectrum Health specializing in medicine, genetics, and neurogenetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	10	1.2K
2	Social Sciences	5	5	874
3	Health Sciences	1	1	80
4	Public Health	1	1	14
5	Allergy	1	1	80

Paul R. Mark

Publications

1.8K

Citations

H-Index

Page 1

	Year	Citations
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper, Nature Genetics Developmental BiologyTwo-hit ModelGeneticsDevelopmental ScienceGlobal Developmental Delay	2010	669
NAD Deficiency, Congenital Malformations, and Niacin Supplementation Hongjun Shi, Annabelle Enriquez, Melissa Rapadas, New England Journal of Medicine	2017	235
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome Eric G. Bend, Erfan Aref‐Eshghi, David B. Everman, Clinical Epigenetics	2019	123
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome Margot A. Cousin, Blake A. Creighton, Keith A. Breau, Nature Genetics Developmental AnomalyPathogenic Sptbn1 VariantsBrain DevelopmentMedicineGenetics	2021	98
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
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations Ellen S. Regalado, Lauren Mellor-Crummey, Julie De Backer, Genetics in Medicine Muscle FunctionVascular MalformationNeuromuscular BlockadeKinesiologyVascular Surgery	2018	80
Mutations in <i>CEP120</i> cause Joubert syndrome as well as complex ciliopathy phenotypes Susanne Roosing, Marta Romani, Mala Isrie, Journal of Medical Genetics	2016	63
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis Francesca Mattioli, Élise Schaefer, Alex Magee, The American Journal of Human Genetics ChromatinMendelian DisorderGenetic DisorderAssociated PtosisGenetics	2016	62
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants Sayaka Kayumi, Luis A. Pérez‐Jurado, María Palomares‐Bralo, Genetics in Medicine	2022	48
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders Jacob R. Stolz, Kendall M. Foote, Hermine E. Veenstra‐Knol, The American Journal of Human Genetics Neurodevelopmental DisordersDevelopmental BiologyBrain DevelopmentMedicineGenetics	2021	46

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