Isabel Filges - Concepedia

Author

Isabel Filges

University Hospital of Basel ORCID

Also Known As

I Filges, I. Filges, I., Filges, Isabel Filges

Publications

1.8K

Citations

H-Index

Concepts

All Affiliations

University Hospital of Basel University of Basel University Children’s Hospital Basel Kantonsspital Aarau University of British Columbia

About

Isabel Filges is an author at University Hospital of Basel specializing in medicine, genetics, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	10	607
2	Public Health	2	2	80
3	Health Sciences	1	1	11
4	Social Sciences	1	1	60
5	Cell Biology	1	1	48

Isabel Filges

Publications

1.4K

Citations

H-Index

Page 1

	Year	Citations
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome J. K. J. VAN HOUDT, Beata Nowakowska, Sérgio B. Sousa, Nature Genetics Mendelian DisorderGenetic DisorderMedicineGeneticsHeterozygous Missense Mutations	2012	243
Reduced expression by <i>SETBP1</i> haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel–Giedion syndrome Isabel Filges, Keiko Shimojima, Nobuhiko Okamoto, Journal of Medical Genetics	2010	123
Exome sequencing identifies mutations in <i><scp>KIF14</scp></i> as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype Isabel Filges, Ekaterina Nosova, Elisabeth Bruder, Clinical Genetics	2013	105
aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis Isabel Filges, Anjeung Kang, Vanessa Klug, Prenatal Diagnosis	2011	86
Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants Isabel Filges, Irina Manokhina, Maria S. Peñaherrera, Molecular Human Reproduction CytogeneticsGeneticsReproductive HealthGynecologyOocyte Maturation	2014	85
Mosaic ring chromosome 8: Clinical and array‐CGH findings in partial trisomy 8 Isabel Filges, Benno Röthlisberger, Friedel Wenzel, American Journal of Medical Genetics Part A	2008	73
Phenotypic spectrum associated with <i><scp>PTCHD1</scp></i> deletions and truncating mutations includes intellectual disability and autism spectrum disorder Ayeshah Chaudhry, Abdul Noor, Bryan Degagne, Clinical Genetics	2014	70
Exome sequencing of fetal anomaly syndromes: novel phenotype–genotype discoveries Nicole Meier, Elisabeth Bruder, Olav Lapaire, European Journal of Human Genetics	2019	70
Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism Isabel Filges, Benno Röthlisberger, Ariane C. Blattner, Clinical Genetics GeneticsMolecular BiologyMolecular GeneticsDisease Gene IdentificationSocial Sciences	2010	60
Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement Hussam Al‐Kateb, Geetika Khanna, Isabel Filges, American Journal of Medical Genetics Part A	2014	50

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