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204 results

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Page 1
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Dias KR, Shrestha R, Schofield D, Evans CA, O'Heir E, Zhu Y, Zhang F, Standen K, Weisburd B, Stenton SL, Sanchis-Juan A, Brand H, Talkowski ME, Ma A, Ghedia S, Wilson M, Sandaradura SA, Smith J, Kamien B, Turner A, Bakshi M, Adès LC, Mowat D, Regan M, McGillivray G, Savarirayan R, White SM, Tan TY, Stark Z, Brown NJ, Pérez-Jurado LA, Krzesinski E, Hunter MF, Akesson L, Fennell AP, Yeung A, Boughtwood T, Ewans LJ, Kerkhof J, Lucas C, Carey L, French H, Rapadas M, Stevanovski I, Deveson IW, Cliffe C, Elakis G, Kirk EP, Dudding-Byth T, Fletcher J, Walsh R, Corbett MA, Kroes T, Gecz J, Meldrum C, Cliffe S, Wall M, Lunke S, North K, Amor DJ, Field M, Sadikovic B, Buckley MF, O'Donnell-Luria A, Roscioli T. Dias KR, et al. Among authors: sadikovic b. Genet Med. 2024 May;26(5):101076. doi: 10.1016/j.gim.2024.101076. Epub 2024 Jan 19. Genet Med. 2024. PMID: 38258669
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.
LaFlamme CW, Rastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Almanza Fuerte EP, Galey M, Goffena J, Gibson SB, Allan TJ, Nyaga DM, Lieffering N, Hebbar M, Walker EV, Darnell D, Olsen SR, Kolekar P, Djekidel N, Rosikiewicz W, McConkey H, Kerkhof J, Levy MA, Relator R, Lev D, Lerman-Sagie T, Park KL, Alders M, Cappuccio G, Chatron N, Demain L, Genevieve D, Lesca G, Roscioli T, Sanlaville D, Tedder ML, Hubshman MW, Ketkar S, Dai H, Worley KC, Rosenfeld JA, Chao HT; Undiagnosed Diseases Network; Neale G, Carvill GL; University of Washington Center for Rare Disease Research; Wang Z, Berkovic SF, Sadleir LG, Miller DE, Scheffer IE, Sadikovic B, Mefford HC. LaFlamme CW, et al. Among authors: sadikovic b. medRxiv [Preprint]. 2023 Oct 12:2023.10.11.23296741. doi: 10.1101/2023.10.11.23296741. medRxiv. 2023. Update in: Nat Commun. 2024 Aug 6;15(1):6524. doi: 10.1038/s41467-024-50159-6 PMID: 37873138 Free PMC article. Updated. Preprint.
Evaluation of HER2 immunohistochemistry expression in non-standard solid tumors from a Single-Institution Prospective Cohort.
Verma S, Chapman A, Pickard LA, Porplycia D, McConkey H, Jarosz P, Sinfield J, Lauzon-Young C, Cecchini MJ, Howlett C, Grindrod N, Sadikovic B, Welch SA, Breadner D. Verma S, et al. Among authors: sadikovic b. Explor Target Antitumor Ther. 2024;5(5):1100-1109. doi: 10.37349/etat.2024.00265. Epub 2024 Aug 22. Explor Target Antitumor Ther. 2024. PMID: 39351438 Free PMC article.
A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene.
Del Rocío Pérez Baca M, Jacobs EZ, Vantomme L, Leblanc P, Bogaert E, Dheedene A, De Cock L, Haghshenas S, Foroutan A, Levy MA, Kerkhof J, McConkey H, Chen CA, Batzir NA, Wang X, Palomares M, Carels M; ZFHX3 consortium; Demaut B, Sadikovic B, Menten B, Yuan B, Vergult S, Callewaert B. Del Rocío Pérez Baca M, et al. Among authors: sadikovic b. medRxiv [Preprint]. 2023 May 24:2023.05.22.23289895. doi: 10.1101/2023.05.22.23289895. medRxiv. 2023. Update in: Am J Hum Genet. 2024 Mar 7;111(3):509-528. doi: 10.1016/j.ajhg.2024.01.013 PMID: 37292950 Free PMC article. Updated. Preprint.
EHMT2 as a Candidate Gene for an Autosomal Recessive Neurodevelopmental Syndrome.
Carvalho LML, Rzasa J, Kerkhof J, McConkey H, Fishman V, Koksharova G, de Lima Jorge AA, Branco EV, de Oliveira DF, Martinez-Delgado B, Barrero MJ, Kleefstra T, Sadikovic B, Haddad LA, Bertola DR, Rosenberg C, Krepischi ACV. Carvalho LML, et al. Among authors: sadikovic b. Mol Neurobiol. 2024 Dec 15. doi: 10.1007/s12035-024-04655-x. Online ahead of print. Mol Neurobiol. 2024. PMID: 39674972
Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations.
Pavinato L, Carestiato S, Trajkova S, Sorasio L, Mantovani G, De Sanctis L, Kerkhof J, Haley, Rzasa J, Todd E, Balzo M, Cardaropoli S, Bruselles A, De Rubeis S, Buxbaum JD, Tartaglia M, Sadikovic B, Ferrero GB, Brusco A. Pavinato L, et al. Among authors: sadikovic b. Clin Genet. 2024 Nov 27. doi: 10.1111/cge.14654. Online ahead of print. Clin Genet. 2024. PMID: 39603792
Methylation assay in KMT2B-related dystonia: a novel diagnostic validation tool.
da Silva Carvalho GF, de Gusmão CM, Wolff BM, Vieira LL, de Oliveira YG, Costa MR, da Silva Mendes R, Castro MAA, Sakuma MT, Kok F, Sadikovic B, Kulikowski LD. da Silva Carvalho GF, et al. Among authors: sadikovic b. Clin Epigenetics. 2024 Nov 25;16(1):169. doi: 10.1186/s13148-024-01780-1. Clin Epigenetics. 2024. PMID: 39587624 Free PMC article.
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.
van der Laan L, Silva A, Kleinendorst L, Rooney K, Haghshenas S, Lauffer P, Alanay Y, Bhai P, Brusco A, de Munnik S, de Vries BBA, Vega AD, Engelen M, Herkert JC, Hochstenbach R, Hopman S, Kant SG, Kira R, Kato M, Keren B, Kroes HY, Levy MA, Lock-Hock N, Maas SM, Mancini GMS, Marcelis C, Matsumoto N, Mizuguchi T, Mussa A, Mignot C, Närhi A, Nordgren A, Pfundt R, Polstra AM, Trajkova S, van Bever Y, José van den Boogaard M, van der Smagt JJ, Barakat TS, Alders M, Mannens MMAM, Sadikovic B, van Haelst MM, Henneman P. van der Laan L, et al. Among authors: sadikovic b. HGG Adv. 2024 Nov 4;6(1):100380. doi: 10.1016/j.xhgg.2024.100380. Online ahead of print. HGG Adv. 2024. PMID: 39501558 Free PMC article.
204 results