Toshifumi Suzuki - Concepedia

Author

Toshifumi Suzuki

Also Known As

K Sugawara, Suzuki, Toshifumi, T SUZUKI, T Suzuki, T. SUZUKI, T. Suzuki, TOSHIFUMI SUZUKI, Toshifumi SUZUKI, Toshifumi Suzuki

Publications

1.1K

Citations

H-Index

Concepts

All Affiliations

Juntendo University Yokohama City University Kanagawa Children's Medical Center Yokohama City University Hospital Jichi Medical University

About

Toshifumi Suzuki is an author at Juntendo University specializing in medicine, genetics, and genomics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	11	509
2	Engineering	4	4	274
3	Public Health	2	2	53
4	Natural Sciences	1	1	20
5	Applied Physics	1	1	20

Toshifumi Suzuki

Publications

Citations

H-Index

Page 1

	Year	Citations
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, Cell Reports	2018	179
Regio- and stereoselective ring opening of epoxy alcohols with organoaluminium compounds leading to 1,2-diols Toshifumi Suzuki, Hiroyuki Saimoto, Hiroki Tomioka, Tetrahedron Letters EngineeringStereoselective Ring OpeningOrganoaluminium CompoundsOrganic ChemistryEpoxy Alcohols	1982	172
De novo SOX11 mutations cause Coffin–Siris syndrome Yoshinori Tsurusaki, Eriko Koshimizu, Hirofumi Ohashi, Nature Communications Genetic DisorderMedicineGeneticsPathologyMolecular Genetics	2014	146
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseGenetic Epidemiology	2019	64
The role of trimethylsilyl group in highly stereoselective eposidation of allylic alcohols Hiroki Tomioka, Toshifumi Suzuki, Koichiro Oshima, Tetrahedron Letters EngineeringTrimethylsilyl GroupStereoselective EposidationAllylic AlcoholsOrganic Chemistry	1982	58
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome Hiromi Aoi, Takeshi Mizuguchi, José Ricard Magliocco Ceroni, Journal of Human Genetics Comprehensive Genetic AnalysisMendelian DisorderGenetic DisorderGeneticsLange Syndrome	2019	58
Molecular genetic analysis of 30 families with Joubert syndrome Toshifumi Suzuki, Noriko Miyake, Yoshinori Tsurusaki, Clinical Genetics Rare DiseasesDevelopmental BiologyMendelian DisorderJoubert SyndromeMedicine	2016	56
Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing Toshifumi Suzuki, Yoshinori Tsurusaki, Mitsuko Nakashima, Journal of Human Genetics Long-read SequencingChromatinInversion BreakpointsChromosomal TranslocationMedicine	2014	52
Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses Yuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, Human Mutation Efficient DetectionExome SequencingGeneticsGenomicsHigh Throughput Sequencing	2020	34
A recurrent <i>PJA1</i> variant in trigonocephaly and neurodevelopmental disorders Toshimitsu Suzuki, Toshifumi Suzuki, Matthieu Raveau, Annals of Clinical and Translational Neurology	2020	28

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