Suzanna G.M. Frints - Concepedia

Author

Suzanna G.M. Frints

Also Known As

R.J.E. Pennings, S Frints, S G Frints, S G M Frints, S. Frints, S. G. M. Frints, S. G.M. Frints, S.G.M. Frints, SGM Frints, Susanna G. M. Frints

Publications

6.1K

Citations

H-Index

Concepts

All Affiliations

Maastricht University Radboud University Nijmegen KU Leuven Max Planck Institute for Molecular Genetics Inserm

About

Suzanna G.M. Frints is an author at Maastricht University specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	25	31	4.7K
2	Public Health	5	5	844
3	Social Sciences	3	3	604
4	Engineering	2	2	163
5	Cell Biology	1	1	129

Suzanna G.M. Frints

Publications

5.6K

Citations

H-Index

Page 1

	Year	Citations
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus Yanick J. Crow, Bruce E. Hayward, Rekha Parmar, Nature Genetics Ags1 LocusMendelian DisorderGenetic DisorderMedicineGenetics	2006	876
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome Gillian Rice, Teresa Patrick, Rekha Parmar, The American Journal of Human Genetics CardiomyopathyHeart FailureCardiorenal SyndromesCardiovascular DiseaseMolecular Phenotype	2007	442
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia Koenraad Devriendt, Annette S. Kim, Gert Mathijs, Nature Genetics Genetic DisorderGeneticsPathologyMolecular GeneticsMedicine	2001	432
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy Petter Strømme, Marie Mangelsdorf, Marie Shaw, Nature Genetics Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderHuman Ortholog	2002	431
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes Hao Hu, Stefan A. Haas, Jamel Chelly, Molecular Psychiatry	2015	299
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation Alain Carrié, T Bienvenu, Marie Claude Vinet, Nature Genetics NeuropsychologyMolecular NeurosciencePsychiatryMedicineIl-1 Receptor Family	1999	294
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation Ramzi Zemni, Thierry Bienvenu, Marie Claude Vinet, Nature Genetics Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	2000	236
Non-invasive prenatal testing: ethical issues explored Antina de Jong, Wybo Dondorp, Christine de Die‐Smulders, European Journal of Human Genetics Prenatal Genetic TestingPrenatal Genetic ScreeningGynecologyMaternal HealthBioethics	2009	228
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome Nathalie Van der Aa, Liesbeth Rooms, Geert Vandeweyer, European Journal of Medical Genetics Developmental BiologyGenetic DisorderGeneticsPathogenesisPathology	2009	215
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study Christel Depienne, Marianna Bugiani, Céline Dupuits, The Lancet Neurology Neurobiology Of DiseaseNeurophysiologyNeuroanatomyWhite MatterCerebrospinal Fluid	2013	181

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