Cecilie F. Rustad - Concepedia

Author

Cecilie F. Rustad

Oslo University Hospital ORCID

Also Known As

C. Rustad, Cecilie F Rustad, Cecilie F. Rustad, Cecilie Fremstad Rustad, Cecilie Rustad, Cecilie F. Rustad

Publications

1.6K

Citations

H-Index

Concepts

All Affiliations

Oslo University Hospital University of Oslo Telemark Hospital Radboud University Nijmegen Haukeland University Hospital

About

Cecilie F. Rustad is an author at Oslo University Hospital specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	11	11	947
2	Engineering	1	1	53
3	Public Health	1	1	92
4	Cell Biology	1	1	176
5	Epidemiology	1	1	92

Cecilie F. Rustad

Publications

1.5K

Citations

H-Index

Page 1

	Year	Citations
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders Asbjørg Stray‐Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, Journal of Allergy and Clinical Immunology Primary ImmunodeficiencyMendelian DisorderAutoimmune DiseaseMedicineImmunology	2016	269
PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia Asbjørg Stray‐Pedersen, Paul Hoff Backe, Hanne Sørmo Sorte, The American Journal of Human Genetics Mendelian DisorderAutoimmune DiseasePgm3 Mutations CauseHuman GrowthSevere Immunodeficiency	2014	176
Mutations in <i>LZTR1</i> add to the complex heterogeneity of schwannomatosis Miriam J. Smith, B. Isidor, Christian Beetz, Neurology	2014	121
Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis Miriam J. Smith, Andrew J. Wallace, Naomi L. Bowers, Neurogenetics Mendelian DisorderGenetic DisorderMedicineGeneticsPathology	2012	118
Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up Panagiotis Baliakas, Bianca Tesi, Ulla Wartiovaara‐Kautto, HemaSphere Myeloid NeoplasmsMixed-phenotype Acute LeukemiaGermline PredispositionGenetic EpidemiologyPathology	2019	92
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies Bo Yuan, Juanita Neira, Davut Pehli̇van, Genetics in Medicine BioinformaticsMendelian DisorderGenetic DisorderMedicineGenetics	2018	87
15q11.2 microdeletion – Seven new patients with delayed development and/or behavioural problems Charlotte von der Lippe, Cecilie F. Rustad, Ketil Heimdal, European Journal of Medical Genetics PsychiatryPediatricsAbnormal DevelopmentGlobal Developmental DelayPsychopathology	2010	86
The Cardiac Phenotype in Patients With a <i>CHD7</i> Mutation Nicole Corsten‐Janssen, Wilhelmina S. Kerstjens‐Frederikse, Gideon J. du Marchie Sarvaas, Circulation Cardiovascular Genetics	2013	72
De novo substitutions of TRPM3 cause intellectual disability and epilepsy David A. Dyment, Cecilie F. Rustad, Kristian Tveten, European Journal of Human Genetics	2019	66
Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis Miriam J. Smith, Anjana Kulkarni, Cecilie F. Rustad, American Journal of Medical Genetics Part A	2011	65

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