Ekaterina Kuchinskaya

Author

Also Known As

E Kuchinskaya, E. Kuchinskaya, E. M. Kuchinskaya, E. M. Кuchinskaya, E.M. Kuchinskaya, Ekaterina Kuchinskaya, Ekaterina M Kuchinskaya, Ekaterina M. Kuchinskaya, Ekaterina Mikhaylovna Kuchinskaya, Kuchinskaya, Ekaterina

Publications

731

Citations

H-Index

Concepts

All Affiliations

Karolinska Institutet Karolinska University Hospital Linköping University Lund University Umeå University

About

Ekaterina Kuchinskaya is an author at Karolinska Institutet specializing in medicine, pathology, and immunology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	7	7	272
2	Allergy	2	2	59
3	Health Sciences	1	1	17
4	Public Health	1	1	24
5	Allergy Medicine	1	1	11

Ekaterina Kuchinskaya

Publications

606

Citations

H-Index

Page 1

	Year	Citations
<i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes María Concepción Gil‐Rodríguez, Matthew A. Deardorff, Morad Ansari, Human Mutation Lysosomal Storage DiseaseGeneticsImmunodeficienciesGenetic EpidemiologySmc3 Mutation	2015	88
Preventive medicine of von Hippel–Lindau disease-associated pancreatic neuroendocrine tumors Alfonso Massimiliano Ferrara, Thera P. Links, Ulrich F. Wellner, Endocrine Related Cancer	2018	67
Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition Alisa Olkinuora, Taina T. Nieminen, Emma Mårtensson, Genetics in Medicine	2018	58
Characterisation of dic(9;20)(p11–13;q11) in childhood B‐cell precursor acute lymphoblastic leukaemia by tiling resolution array‐based comparative genomic hybridisation reveals clustered breakpoints at 9p13.2 and 20q11.2 Jacqueline Schoumans, Bertil Johansson, Martin Corcoran, British Journal of Haematology CytogeneticsGeneticsPathologyMolecular GeneticsGenomics	2006	55
Identification of the best cutoff points and clinical signs specific for early recognition of macrophage activation syndrome in active systemic juvenile idiopathic arthritis Mikhail M. Kostik, M. F. Dubko, V.V. Masalova, Seminars in Arthritis and Rheumatism InflammationRheumatologyRheumatoid DisorderBest Cutoff PointsAllergy	2014	48
Exome sequencing reveals <i>NAA15</i> and <i>PUF60</i> as candidate genes associated with intellectual disability Jin Zhao, Jonatan Halvardson, Cecilia Zander, American Journal of Medical Genetics Part B Neuropsychiatric Genetics	2017	45
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability Anna Lindstrand, Marlene Ek, Malin Kvarnung, Genetics in Medicine	2022	31
The frequency and prognostic impact of dic(9;20)(p13.2;q11.2) in childhood B-cell precursor acute lymphoblastic leukemia: results from the NOPHO ALL-2000 trial Vasilios Zachariadis, Fredrika Gauffin, Ekaterina Kuchinskaya, Leukemia Hematological MalignancyLymphoid NeoplasiaPrognostic ImpactMedicineHematology	2011	29
Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder Jillian Ramos, Melissa Proven, Jonatan Halvardson, RNA	2020	25
Array‐CGH reveals hidden gene dose changes in children with acute lymphoblastic leukaemia and a normal or failed karyotype by G‐banding Ekaterina Kuchinskaya, Mats Heyman, Ann Nordgren, British Journal of Haematology	2008	24

Page 1