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Benno Röthlisberger | Researchclopedia

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Benno Röthlisberger

59

Works

1,623

Citations

21

h-index

32

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Prenatal Screening and Diagnostics Genomics and Rare Diseases

Affiliations

New York Blood Center2003–2003

Vilnius University1999–1999

Swiss Red Cross2003–2003

University of Zurich1998–2002

Kharkiv Medical Academy of Postgraduate Education2001–2001

Top Works

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

Uschi Lindert,Wayne A. Cabral,et al.

2016143 citations

Chromosomal and Genetic Variations

Genetics and Neurodevelopmental Disorders

New insights into the performance of human whole-exome capture platforms

Janine Meienberg,K. Žerjavic,et al.

2015141 citations

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,et al.

2010123 citations

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,et al.

2013105 citations

Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes

Benno Röthlisberger,Dieter Kotzot,et al.

1999104 citations

Recurrence risk in de novo structural chromosomal rearrangements

Benno Röthlisberger,Dieter Kotzot

200799 citations

Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients

Ettore Capoluongo,Gillian Ellison,et al.

201792 citations

Parental origin of apparently balanced <i>de novo</i> complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite‐mediated haplotype analysis

Vera Großmann,Martina Höckner,et al.

201082 citations

Mosaic ring chromosome 8: Clinical and array‐CGH findings in partial trisomy 8

Isabel Filges,Benno Röthlisberger,et al.

200873 citations