Sfoglia per AUTORE
TRAJKOVA S
Collezione AOU Città della Salute di Torino

  

Items : 16

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations. in Clinical genetics / Clin Genet. 2025 Mar;107(3):354-358. doi: 10.1111/cge.14654. Epub 2024 Nov 27.
2025
AO Cuneo
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Ferrero GB; Brusco A; Buxbaum JD; Tartaglia M; Sadikovic B; De Rubeis S; Cardaropoli S; Bruselles A; Balzo M; Todd E; Rzasa J; McConkey H; Kerkhof J; De Sanctis L; Mantovani G; Sorasio L; Carestiato S; Trajkova S; Pavinato L;

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature. in HGG advances / HGG Adv. 2025 Jan 9;6(1):100380. doi: 10.1016/j.xhgg.2024.100380. Epub 2024 Nov 4.
2025
AOU Città della Salute di Torino

Barakat TS; Alders M; van der Smagt JJ; José van den Boogaard M; Trajkova S; van Bever Y; Polstra AM; Pfundt R; Nordgren A; Närhi A; Mignot C; Mussa A; Mizuguchi T; Matsumoto N; Marcelis C; Mancini GMS; Maas SM; Lock-Hock N; Levy MA; Kroes HY; Keren B; Kato M; Kira R; Kant SG; Hopman S; Hochstenbach R; Herkert JC; Engelen M; Vega AD; et alii...

Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2024 Mar;26(3):101041. doi: 10.1016/j.gim.2023.101041. Epub 2023 Dec 3.
2024
AOU Città della Salute di Torino

Alders MM; Merla G; Brusco A; Trajkova S; Mussa A; Shukarova-Angelovska E; Carli D; Asaftei SD; Piccione M; Vissers L; Salzano E; Tedder ML; Gerkes EH; Zonneveld-Huijssoon E; Brooks A; Kerkhof J; McConkey H; Levy MA; Haghshenas S; Relator R; Karimi K; Mol MO; Bouman A; Sadikovic B;

Identification of the DNA methylation signature of Mowat-Wilson syndrome. in European journal of human genetics : EJHG / Eur J Hum Genet. 2024 Jun;32(6):619-629. doi: 10.1038/s41431-024-01548-4. Epub 2024 Feb 13.
2024
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Trajkova S; Zuntini R; Relator R; Haghshenas S; Levy MA; Garavelli L; Sadikovic B; Ferrero GB; Tartaglia M; McConkey H; Zollino M; Pullano V; Brusco A; Pavinato L; Ivanovski I; Fetta A; Sukarova E; Lauzon C; Cordelli DM; Mandrile G; Baldo C; Rooney K; Caraffi SG; van der Laan L;

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes. in Human genetics / Hum Genet. 2024 Jun;143(6):761-773. doi: 10.1007/s00439-024-02679-w. Epub 2024 May 24.
2024
AOU Città della Salute di Torino

Vos N; Haghshenas S; van der Laan L; Russel PKM; Rooney K; Levy MA; Relator R; Kerkhof J; McConkey H; Maas SM; Vissers LELM; de Vries BBA; Pfundt R; Elting MW; van Hagen JM; Verbeek NE; Jongmans MCJ; Lakeman P; Rumping L; Bosch DGM; Vitobello A; Thauvin-Robinet C; Faivre L; Nambot S; Garde A; Willems M; Genevieve D; Nicolas G; Busa T; et alii...

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity. in HGG advances / HGG Adv. 2024 Jul 18;5(3):100309. doi: 10.1016/j.xhgg.2024.100309. Epub 2024 May 15.
2024
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Mussa A; Banka S; Jenkinson S; Metcalfe K; Campbell CM; Sukarova-Angelovska E; Pasini B; Petlichkovski A; McConkey H; Rooney K; Rzasa J; Dimartino P; Pippucci T; Giorgio E; Rinninella A; Pullano V; Cardaropoli S; Carestiato S; Mandrile G; Palermo F; Marinoni R; Carli D; Di Gregorio E; Ferrero E; Giovenino C; Pavinato L; Rossi Sebastiano M; Trajkova S; Kerkhof J; et alii...

Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype. in American journal of medical genetics. Part C, Seminars in medical genetics / Am J Med Genet C Semin Med Genet. 2024 Dec;196(4):e32089. doi: 10.1002/ajmg.c.32089. Epub 2024 Jun 1
2024
AOU Città della Salute di Torino

Sousa SB; Kini U; Oliveira D; Zollino M; Metcalfe K; Yamamoto T; Bourgois A; Perrin L; Vincent-Devulder A; Weber S; Faivre L; Vitobello A; Ciaccio C; D'Arrigo S; Hennekam RCM; Henneman P; Alders M; Skinner C; Tedder ML; McConkey H; Kerkhof J; Relator R; Levy MA; Brusco A; Carli D; Reilly J; Trajkova S; Sarli C; van der Laan L; et alii...

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes. in European journal of human genetics : EJHG / Eur J Hum Genet. 2023 Nov;31(11):1228-1236. doi: 10.1038/s41431-023-01324-w. Epub 2023 Mar 6.
2023
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Ferrero GB; Delledonne M; Rossato M; Tartaglia M; Pippucci T; De Rubeis S; Buxbaum JD; Pasini B; Mandrile G; Bruselles A; Froukh T; Dimartino P; Mussa A; Palermo F; Carli D; Battaglia A; Bertoli L; Fadda A; Rinninella A; Salmin P; Carestiato S; Sukarova-Angelovska E; Ferrero E; Brusco A; Pullano V; Cardaropoli S; Pavinato L; Trajkova S; Giovenino C; et alii...

DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2023 Aug;25(8):100871. doi: 10.1016/j.gim.2023.100871. Epub 2023 Apr 28.
2023
AOU Città della Salute di Torino

Sadikovic B; Mannens MMAM; Alders M; Hochstenbach R; Misra-Isrie M; Ferrero GB; Brusco A; Oegema R; Verbeek N; van der Smagt JJ; Volker-Touw CML; de Villemeur TB; Keren B; Terrone G; Mignot C; Brunetti-Pierri N; Levy MA; Vos N; Relator R; Lauffer P; Trajkova S; Haghshenas S; Rooney K; van der Laan L; van Haelst MM; Henneman P;

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. in Nature genetics / Nat Genet. 2022 Sep;54(9):1320-1331. doi: 10.1038/s41588-022-01104-0. Epub 2022 Aug 18.
2022
AOU Città della Salute di Torino

Fu JM; Satterstrom FK; Peng M; Brand H; Collins RL; Dong S; Wamsley B; Klei L; Wang L; Hao SP; Stevens CR; Cusick C; Babadi M; Banks E; Collins B; Dodge S; Gabriel SB; Gauthier L; Lee SK; Liang L; Ljungdahl A; Mahjani B; Sloofman L; Smirnov AN; Barbosa M; Betancur C; Brusco A; Chung BHY; Cook EH; et alii...

2022
ASL Città di Torino
AOU Città della Salute di Torino

Pavinato L; Platzer K; Keller R; Rosenhahn E; Strehlow V; Trajkova S; Delanne J; Sukarova-Angelovska E; Leiz S; Mau-Them FT; Brugger M; Roser T; Courtin T; Perrin L; Keren B; Agrawal PB; Madden JA; Brownstein CA; Chatron N; Sabatier I; Lesca G; Barakat TS; van Dooren MF; Wilke M; van Slegtenhorst M; Vetro A; England E; Murali CN; Fehr S; et alii...

Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review. in American journal of medical genetics. Part A / Am J Med Genet A. 2021 Jun;185(6):1712-1720. doi: 10.1002/ajmg.a.62157. Epub 2021 Mar 6.
2021
ASL Città di Torino
AOU Città della Salute di Torino

Brusco A; Keller R; Buxbaum J; Ferrero GB; De Rubeis S; Tartaglia M; Petlichkovski A; Pippucci T; Dimartino P; Radio FC; Bruselles A; Giorgio E; Grosso E; Trajkova S; Pavinato L;

New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review. in Brain sciences / Brain Sci. 2020 Oct 28;10(11):788. doi: 10.3390/brainsci10110788.
2020
AOU Città della Salute di Torino

Trajkova S; Di Gregorio E; Ferrero GB; Carli D; Pavinato L; Delplancq G; Kuentz P; Brusco A;

Missense variant contribution to USP9X-female syndrome. in NPJ genomic medicine / NPJ Genom Med. 2020 Dec 9;5(1):53. doi: 10.1038/s41525-020-00162-9.
2020
AOU Città della Salute di Torino

Jolly LA; Parnell E; Gardner AE; Corbett MA; Pérez-Jurado LA; Shaw M; Lesca G; Keegan C; Schneider MC; Griffin E; Maier F; Kiss C; Guerin A; Crosby K; Rosenbaum K; Tanpaiboon P; Whalen S; Keren B; McCarrier J; Basel D; Sadedin S; White SM; Delatycki MB; Kleefstra T; Küry S; Brusco A; Sukarova-Angelovska E; Trajkova S; Yoon S; et alii...

Use of Antidepressants and Risk of Incident Stroke: A Systematic Review and Meta-Analysis. in Neuroepidemiology / Neuroepidemiology. 2019;53(3-4):142-151. doi: 10.1159/000500686. Epub 2019 Jun 19.
2019
AOU Città della Salute di Torino

Trajkova S; d'Errico A; Soffietti R; Sacerdote C; Ricceri F;

Impact of preventable risk factors on stroke in the EPICOR study: does gender matter? in International journal of public health / Int J Public Health. 2017 Sep;62(7):775-786. doi: 10.1007/s00038-017-0993-2. Epub 2017 Jun 22.
2017
AOU Città della Salute di Torino

Trajkova S; d'Errico A; Ricceri F; Fasanelli F; Pala V; Agnoli C; Tumino R; Frasca G; Masala G; Saieva C; Chiodini P; Mattiello A; Sacerdote C; Panico S; Trajkova S; d'Errico A; Ricceri F; Fasanelli F; Pala V; Agnoli C; Tumino R; Frasca G; Masala G; Saieva C; Chiodini P; Mattiello A; Sacerdote C; Panico S;