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Showing results for christian indel
Your search for Christian Windel retrieved no results
Prognostic impact of CEBPA mutational subgroups in adult AML.
Georgi JA, Stasik S, Kramer M, Meggendorfer M, Röllig C, Haferlach T, Valk P, Linch D, Herold T, Duployez N, Taube F, Middeke JM, Platzbecker U, Serve H, Baldus CD, Muller-Tidow C, Haferlach C, Koch S, Berdel WE, Woermann BJ, Krug U, Braess J, Hiddemann W, Spiekermann K, Boertjes EL, Hills RK, Burnett A, Ehninger G, Metzeler K, Rothenberg-Thurley M, Dufour A, Dombret H, Pautas C, Preudhomme C, Fenwarth L, Bornhäuser M, Gale R, Thiede C. Georgi JA, et al. Leukemia. 2024 Feb;38(2):281-290. doi: 10.1038/s41375-024-02140-x. Epub 2024 Jan 16. Leukemia. 2024. PMID: 38228680 Free PMC article.
Using pooled primary data analysis on 1010 CEBPA-mutant adult AML patients, a comparison was performed taking into account the type of mutation (bZIP: either typical in-frame insertion/deletion (InDel) mutations (bZIP(InDel)), frameshift InDel or nonse …
Using pooled primary data analysis on 1010 CEBPA-mutant adult AML patients, a comparison was performed taking into account the type of mu …
HiFi long-read genomes for difficult-to-detect, clinically relevant variants.
Höps W, Weiss MM, Derks R, Galbany JC, Ouden AD, van den Heuvel S, Timmermans R, Smits J, Mokveld T, Dolzhenko E, Chen X, van den Wijngaard A, Eberle MA, Yntema HG, Hoischen A, Gilissen C, Vissers LELM. Höps W, et al. Am J Hum Genet. 2025 Feb 6;112(2):450-456. doi: 10.1016/j.ajhg.2024.12.013. Epub 2025 Jan 13. Am J Hum Genet. 2025. PMID: 39809270 Free PMC article.
We show that relevant variant callers readily re-identified the majority of variants (120/145, 83%), including 90% of structural variants, SNVs/insertions or deletions (indels) in homologous sequences, and expansions of short tandem repeats. Another 10% (n = 14) was visual …
We show that relevant variant callers readily re-identified the majority of variants (120/145, 83%), including 90% of structural variants, S …
Signatures of TOP1 transcription-associated mutagenesis in cancer and germline.
Reijns MAM, Parry DA, Williams TC, Nadeu F, Hindshaw RL, Rios Szwed DO, Nicholson MD, Carroll P, Boyle S, Royo R, Cornish AJ, Xiang H, Ridout K; Genomics England Research Consortium; Colorectal Cancer Domain UK 100,000 Genomes Project; Schuh A, Aden K, Palles C, Campo E, Stankovic T, Taylor MS, Jackson AP. Reijns MAM, et al. Nature. 2022 Feb;602(7898):623-631. doi: 10.1038/s41586-022-04403-y. Epub 2022 Feb 9. Nature. 2022. PMID: 35140396 Free PMC article.
The mutational landscape is shaped by many processes. Genic regions are vulnerable to mutation but are preferentially protected by transcription-coupled repair(1). In microorganisms, transcription has been demonstrated to be mutagenic(2,3); however, the impact of transcrip …
The mutational landscape is shaped by many processes. Genic regions are vulnerable to mutation but are preferentially protected by tr …
PIGN encephalopathy: Characterizing the epileptology.
Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand MS, Jezela-Stanek A, Jouk PS, Keren B, Kloth K, Kluger G, Kuhn M, Lemke JR, Li H, Martinez F, Maxton C, Mefford HC, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec LE, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold EMC, Stegmann APA, Stumpel CT, Szczepanik E, Terczyńska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer IE, Møller RS, Sadleir LG. Bayat A, et al. Epilepsia. 2022 Apr;63(4):974-991. doi: 10.1111/epi.17173. Epub 2022 Feb 18. Epilepsia. 2022. PMID: 35179230
Variants were truncating (n = 7), intronic and predicted to affect splicing (n = 7), and missense or inframe indels (n = 20, of which 11 were predicted to affect splicing). Seven variants were recurrent, including p.Leu311Trp in 10 unrelated patients, nine with generalized …
Variants were truncating (n = 7), intronic and predicted to affect splicing (n = 7), and missense or inframe indels (n = 20, of which …
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Chen S, Abou-Khalil BW, Afawi Z, Ali QZ, Amadori E, Anderson A, Anderson J, Andrade DM, Annesi G, Arslan M, Auce P, Bahlo M, Baker MD, Balagura G, Balestrini S, Banks E, Barba C, Barboza K, Bartolomei F, Bass N, Baum LW, Baumgartner TH, Baykan B, Bebek N, Becker F, Bennett CA, Beydoun A, Bianchini C, Bisulli F, Blackwood D, Blatt I, Borggräfe I, Bosselmann C, Braatz V, Brand H, Brockmann K, Buono RJ, Busch RM, Caglayan SH, Canafoglia L, Canavati C, Castellotti B, Cavalleri GL, Cerrato F, Chassoux F, Cherian C, Cherny SS, Cheung CL, Chou IJ, Chung SK, Churchhouse C, Ciullo V, Clark PO, Cole AJ, Cosico M, Cossette P, Cotsapas C, Cusick C, Daly MJ, Davis LK, Jonghe P, Delanty N, Dennig D, Depondt C, Derambure P, Devinsky O, Di Vito L, Dickerson F, Dlugos DJ, Doccini V, Doherty CP, El-Naggar H, Ellis CA, Epstein L, Evans M, Faucon A, Feng YA, Ferguson L, Ferraro TN, Da Silva IF, Ferri L, Feucht M, Fields MC, Fitzgerald M, Fonferko-Shadrach B, Fortunato F, Franceschetti S, French JA, Freri E, Fu JM, Gabriel S, Gagliardi M, Gambardella A, Gauthier L, Giangregorio T, Gili T, Glauser TA, Goldberg E, Goldman A, Goldstein DB, Granata T, Grant R, Greenberg DA, Guerrini R, Gundogdu-Eken A, Gu… See abstract for full author list ➔ Chen S, et al. medRxiv [Preprint]. 2024 Sep 20:2023.02.22.23286310. doi: 10.1101/2023.02.22.23286310. medRxiv. 2024. Update in: Nat Neurosci. 2024 Oct;27(10):1864-1879. doi: 10.1038/s41593-024-01747-8. PMID: 36865150 Free PMC article. Updated. Preprint.
Combining results from rare single nucleotide/short indel-, copy number-, and common variants, we offer an expanded view of the genetic architecture of epilepsy, with growing evidence of convergence among different genetic risk loci on the same genes. ...
Combining results from rare single nucleotide/short indel-, copy number-, and common variants, we offer an expanded view of the genet …
Enhanced fetal hemoglobin production via dual-beneficial mutation editing of the HBG promoter in hematopoietic stem and progenitor cells for beta-hemoglobinopathies.
Chandraprabha PB, Azhagiri MKK, Venkatesan V, Magis W, Prasad K, Suresh S, Pai AA, Marepally S, Srivastava A, Mohankumar KM, Martin DIK, Thangavel S. Chandraprabha PB, et al. Stem Cell Res Ther. 2024 Dec 31;15(1):504. doi: 10.1186/s13287-024-04117-0. Stem Cell Res Ther. 2024. PMID: 39736768 Free PMC article.
Optimized conditions and treatment with the small molecule AZD-7648 increased this rate, with up to 57% of long-term engrafting human HSPCs in NBSGW mice containing at least one beneficial mutation. Functionally, in vivo erythroblasts exhibited high levels of HbF, which wa …
Optimized conditions and treatment with the small molecule AZD-7648 increased this rate, with up to 57% of long-term engrafting human HSPCs …
Comprehensive de novo mutation discovery with HiFi long-read sequencing.
Kucuk E, van der Sanden BPGH, O'Gorman L, Kwint M, Derks R, Wenger AM, Lambert C, Chakraborty S, Baybayan P, Rowell WJ, Brunner HG, Vissers LELM, Hoischen A, Gilissen C. Kucuk E, et al. Genome Med. 2023 May 8;15(1):34. doi: 10.1186/s13073-023-01183-6. Genome Med. 2023. PMID: 37158973 Free PMC article.

However, the high error rate of LRS made the detection of small variants (substitutions and short indels < 20 bp) more challenging. The introduction of PacBio HiFi sequencing makes LRS also suited for detecting small variation. ...RESULTS: We identified a total of 672 a

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However, the high error rate of LRS made the detection of small variants (substitutions and short indels < 20 bp) more challenging

…
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation.
Steyaert W, Haer-Wigman L, Pfundt R, Hellebrekers D, Steehouwer M, Hampstead J, de Boer E, Stegmann A, Yntema H, Kamsteeg EJ, Brunner H, Hoischen A, Gilissen C. Steyaert W, et al. Nat Commun. 2023 Oct 27;14(1):6845. doi: 10.1038/s41467-023-42531-9. Nat Commun. 2023. PMID: 37891200 Free PMC article.
Here, we present a method (Chameleolyser) that accurately identifies single nucleotide variants and small insertions/deletions (SNVs/Indels), copy number variants and ectopic gene conversion events in duplicated genomic regions using whole-exome sequencing data. Applicatio …
Here, we present a method (Chameleolyser) that accurately identifies single nucleotide variants and small insertions/deletions (SNVs/Inde …
Well-differentiated G1 and G2 pancreatic neuroendocrine tumors: a meta-analysis of published expanded DNA sequencing data.
Andersen KØ, Detlefsen S, Brusgaard K, Christesen HT. Andersen KØ, et al. Front Endocrinol (Lausanne). 2024 May 29;15:1351624. doi: 10.3389/fendo.2024.1351624. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38868744 Free PMC article.
The most frequently altered gene was MEN1, with somatic variants and copy number variations in overall 42% (95/225); hereditary PNETs (germline variations in MEN1, VHL, CHEK2, BRCA2, PTEN, CDKN1B, and/or MUTYH) 57% (16/30); sporadic PNETs 36% (58/162); unknown germline status 64% …
The most frequently altered gene was MEN1, with somatic variants and copy number variations in overall 42% (95/225); hereditary PNETs (germl …
43 results