Ute Grasshoff
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Explore the profile of Ute Grasshoff including associated specialties, affiliations and a list of published articles.
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46
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949
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Recent Articles
1.
Merle D, Kohl S, Reith M, Schaferhoff K, Zuleger T, Stuhn L, et al.
Klin Monbl Augenheilkd
. 2024 Mar;
241(3):266-271.
PMID: 38508215
No abstract available.
2.
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations
Laugwitz L, Cheng F, Collins S, Hustinx A, Navarro N, Welsch S, et al.
Brain
. 2024 Feb;
147(7):2471-2482.
PMID: 38386308
Neurodevelopmental disorders are major indications for genetic referral and have been linked to more than 1500 loci including genes encoding transcriptional regulators. The dysfunction of transcription factors often results in...
3.
Albuainain F, Shi Y, Lor-Zade S, Huffmeier U, Pauly M, Reis A, et al.
Eur J Hum Genet
. 2024 Jan;
32(3):350-356.
PMID: 38200082
Numerous contiguous gene deletion syndromes causing neurodevelopmental disorders have previously been defined using cytogenetics for which only in the current genomic era the disease-causing genes have become elucidated. One such...
4.
Weisschuh N, Mazzola P, Zuleger T, Schaeferhoff K, Kuhlewein L, Kortum F, et al.
J Med Genet
. 2023 Sep;
61(2):186-195.
PMID: 37734845
Purpose: Genome sequencing (GS) is expected to reduce the diagnostic gap in rare disease genetics. We aimed to evaluate a scalable framework for genome-based analyses 'beyond the exome' in regular...
5.
Binder A, Kohl S, Grasshoff U, Schaferhoff K, Stingl K
Doc Ophthalmol
. 2023 Aug;
147(3):203-209.
PMID: 37642804
Purpose: Biallelic mutations in the CEP290 gene cause early onset retinal dystrophy or syndromic disease such as Senior-Loken or Joubert syndrome. Here, we present an unusual non-syndromic case of a...
6.
Szakszon K, Lourenco C, Callewaert B, Genevieve D, Rouxel F, Morin D, et al.
J Med Genet
. 2023 Aug;
61(2):132-141.
PMID: 37580113
Background: Pathogenic variants in the zinc finger protein coding genes are rare causes of intellectual disability and congenital malformations. Mutations in the gene causing GDACCF syndrome (global developmental delay, absent...
7.
Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff J, et al.
Genet Med
. 2023 May;
25(8):100885.
PMID: 37165955
Purpose: Missense variants clustering in the BTB domain region of RHOBTB2 cause a developmental and epileptic encephalopathy with early-onset seizures and severe intellectual disability. Methods: By international collaboration, we assembled...
8.
Kampmeier A, Leitao E, Parenti I, Beygo J, Depienne C, Bramswig N, et al.
Front Cell Dev Biol
. 2023 Feb;
10:1020609.
PMID: 36726590
In 2016 and 2018, Chung, Jansen and others described a new syndrome caused by haploinsufficiency of (pleckstrin homology domain interacting protein, OMIM *612,870) and mainly characterized by developmental delay (DD),...
9.
Ramond F, Dalgliesh C, Grimmel M, Wechsberg O, Vetro A, Guerrini R, et al.
Genet Med
. 2022 Dec;
25(4):100003.
PMID: 36549593
Purpose: Transformer2 proteins (Tra2α and Tra2β) control splicing patterns in human cells, and no human phenotypes have been associated with germline variants in these genes. The aim of this work...
10.
Marbach F, Lipska-Zietkiewicz B, Knurowska A, Michaud V, Margot H, Lespinasse J, et al.
Am J Med Genet A
. 2022 Jul;
188(9):2627-2636.
PMID: 35789103
We present the phenotypes of seven previously unreported patients with Marbach-Schaaf neurodevelopmental syndrome, all carrying the same recurrent heterozygous missense variant c.1003C>T (p.Arg335Trp) in PRKAR1B. Clinical features of this cohort...