Riccardo Berutti
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Explore the profile of Riccardo Berutti including associated specialties, affiliations and a list of published articles.
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60
Citations
1431
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Recent Articles
11.
Oexle K, Zech M, Stuhn L, Siegert S, Brunet T, Schmidt W, et al.
Eur J Hum Genet
. 2023 Jun;
31(9):1032-1039.
PMID: 37365401
DNA methylation classifiers ("episignatures") help to determine the pathogenicity of variants of uncertain significance (VUS). However, their sensitivity is limited due to their training on unambiguous cases with strong-effect variants...
12.
Silvaieh S, Konig T, Wurm R, Parvizi T, Berger-Sieczkowski E, Goeschl S, et al.
Hum Genomics
. 2023 Jun;
17(1):55.
PMID: 37330543
Early-onset dementia (EOD), with symptom onset before age 65, has a strong genetic burden. Due to genetic and clinical overlaps between different types of dementia, whole-exome sequencing (WES) has emerged...
13.
Kratz C, Smirnov D, Autry R, Jager N, Waszak S, Grosshennig A, et al.
J Natl Cancer Inst
. 2023 Apr;
115(6):760-761.
PMID: 37004196
No abstract available.
14.
Riedhammer K, Comic J, Tasic V, Putnik J, Abazi-Emini N, Paripovic A, et al.
Eur J Hum Genet
. 2023 Mar;
31(6):674-680.
PMID: 36922632
Individuals with congenital anomalies of the kidney and urinary tract (CAKUT) show a broad spectrum of malformations. CAKUT can occur in an isolated fashion or as part of a syndromic...
15.
Blaschek A, Sitzberger A, Brugger M, Graf E, Berutti R, Zech M, et al.
Parkinsonism Relat Disord
. 2023 Feb;
109:105320.
PMID: 36841152
No abstract available.
16.
Kratz C, Smirnov D, Autry R, Jager N, Waszak S, Grosshennig A, et al.
J Natl Cancer Inst
. 2022 Dec;
115(2):231-232.
PMID: 36495208
No abstract available.
17.
Harrer P, Schalk A, Shimura M, Baer S, Calmels N, Spitz M, et al.
Ann Neurol
. 2022 Nov;
93(2):330-335.
PMID: 36333996
Infantile striatonigral degeneration is caused by a homozygous variant of the nuclear-pore complex (NPC) gene NUP62, involved in nucleo-cytoplasmic trafficking. By querying sequencing-datasets of patients with dystonia and/or Leigh(-like) syndromes,...
18.
Najafi M, Riedhammer K, Rad A, Najarzadeh Torbati P, Berutti R, Schule I, et al.
Front Pediatr
. 2022 Oct;
10:974840.
PMID: 36245711
Background: Steroid resistant nephrotic syndrome (SRNS) represents a significant renal disease burden in childhood and adolescence. In contrast to steroid sensitive nephrotic syndrome (SSNS), renal outcomes are significantly poorer in...
19.
Comic J, Riedhammer K, Gunthner R, Schaaf C, Richthammer P, Simmendinger H, et al.
Front Med (Lausanne)
. 2022 Sep;
9:957733.
PMID: 36117978
Disease-causing variants in 5 are associated with type-IV-collagen-related nephropathy, a genetically and phenotypically multifaceted disorder comprising Alport syndrome (AS) and thin basement membrane nephropathy (TBMN) and autosomal, X-linked and a...
20.
Berghold V, Koko M, Berutti R, Plecko B
Front Pediatr
. 2022 Sep;
10:944784.
PMID: 36090556
We present a now 18-year-old female patient with a severe congenital myopathy phenotype, originally diagnosed as mitochondrial myopathy, however later revealed to constitute a -related myopathy based on genetic testing....