Kosuke Izumi - Concepedia

Author

Kosuke Izumi

Children's Hospital of Philadelphia ORCID

Also Known As

Brendan H. Lee, Edward Behrens, Izumi, K., Izumi, Kosuke, Jeffrey Jarvik, K Izumi, K. Izumi, KOSUKE IZUMI, Kosuke IZUMI, Kosuke Izumi

168

Publications

3.1K

Citations

H-Index

Concepts

All Affiliations

Children's Hospital of Philadelphia University of Pennsylvania Boston Children's Hospital The University of Tokyo Inserm

About

Kosuke Izumi is an author at Children's Hospital of Philadelphia specializing in medicine, genetics, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	17	25	890
2	Social Sciences	5	5	155
3	Natural Sciences	4	4	120
4	Health Sciences	1	1	54
5	Public Health	1	1	31

Kosuke Izumi

Publications

2.2K

Citations

H-Index

Page 1

	Year	Citations
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin Kosuke Izumi, Ryuichiro Nakato, Zhe Zhang, Nature Genetics Developmental AnomalyDevelopmental BiologyGenetic DisorderDevelopmental GeneticsGenetics	2015	144
Human germline heterozygous gain-of-function <i>STAT6</i> variants cause severe allergic disease Mehul Sharma, Daniel Leung, Mana Momenilandi, The Journal of Experimental Medicine	2023	99
Novel clinical manifestations in Pallister–Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases Alisha Wilkens, Hongbin Liu, Kristen Park, American Journal of Medical Genetics Part A	2012	95
ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects Kosuke Izumi, Maggie Brett, Eriko Nishi, The American Journal of Human Genetics Developmental BiologyMendelian DisorderGenetic DisorderGeneticsCopi-mediated Transport Defects	2016	83
Clinical features of three girls with mosaic genome‐wide paternal uniparental isodisomy Jennifer M. Kalish, Laura K. Conlin, Tricia Bhatti, American Journal of Medical Genetics Part A	2013	76
The Deubiquitinating Enzyme USP7 Regulates Androgen Receptor Activity by Modulating Its Binding to Chromatin Shu-Ting Chen, M. Okada, Ryuichiro Nakato, Journal of Biological Chemistry ChromatinChromatin RemodelingNatural SciencesHormonal ReceptorGene Expression	2015	70
Hepatitis C Virus Impairs p53 via Persistent Overexpression of 3β-Hydroxysterol Δ24-Reductase Tomohiro Nishimura, Michinori Kohara, Kosuke Izumi, Journal of Biological Chemistry	2009	67
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
Paternal gonadal mosaicism of <i>NIPBL</i> mutation in a father of siblings with Cornelia de Lange syndrome Dau‐Ming Niu, Jing-Ying Huang, Hsin-Yang Li, Prenatal Diagnosis	2006	65
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly Ina Schanze, Jens Bunt, Jonathan W. C. Lim, The American Journal of Human Genetics Intellectual ImpairmentNeurological DisorderDisabilityBrain InjuryNeurology	2018	64

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