Publications
2023
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
Gianluca D'Onofrio,
Andrea Accogli,
Mariasavina Severino,
Haluk Caliskan,
Tomislav Kokotović,
Antonela Blazekovic,
Kristina Gotovac Jercic,
Silvana Markovic,
Tamara Zigman,
Krnjak Goran,
Nina Barišić,
Vlasta Duranovic,
Ana Ban,
Fran Borovecki,
Danijela Petković Ramadža,
Ivo Barić,
Walid Fazeli,
Peter Herkenrath,
Carla Marini,
Roberta Vittorini,
Vykuntaraju Gowda,
Arjan Bouman,
Clarissa Rocca,
Issam Azmi Alkhawaja,
Bibi Nazia Murtaza,
Malik Mujaddad Ur Rehman,
Chadi Al Alam,
Gisele Nader,
Maria Margherita Mancardi,
Thea Giacomini,
Siddharth Srivastava,
Javeria Raza Alvi,
Hoda Tomoum,
Sara Matricardi,
Michele Iacomino,
Antonella Riva,
Marcello Scala,
Francesca Madia,
Angela Pistorio,
Vincenzo Salpietro,
Carlo Minetti,
Jean-Baptiste Rivière,
Myriam Srour,
Stephanie Efthymiou,
Reza Maroofian,
Henry Houlden,
Sonja Catherine Vernes,
Federico Zara,
Pasquale Striano,
Vanja Nagy.
Hum Genet. 2023 Jul;142(7):909-925. doi: 10.1007/s00439-023-02552-2. Epub 2023 May 14.
2022
FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder
Christopher W Fell,
Astrid Hagelkruys,
Ana Cicvaric,
Marion Horrer,
Lucy Liu,
Joshua Shing Shun Li,
Johannes Stadlmann,
Anton A Polyansky,
Stefan Mereiter,
Miguel Angel Tejada,
Tomislav Kokotović,
Venkat Swaroop Achuta,
Angelica Scaramuzza,
Kimberly A Twyman,
Michelle M Morrow,
Jane Juusola,
Huifang Yan,
Jingmin Wang,
Margit Burmeister,
Biswa Choudhury,
Thomas Levin Andersen,
Gerald Wirnsberger,
Uffe Holmskov,
Norbert Perrimon,
Bojan Žagrović,
Francisco J Monje,
Jesper Bonnet Moeller,
Josef M Penninger,
Vanja Nagy.
EMBO Mol Med. 2022 Sep 7;14(9):e15829. doi: 10.15252/emmm.202215829. Epub 2022 Aug 2.
2021
PRDM12 Is Transcriptionally Active and Required for Nociceptor Function Throughout Life.
Kokotović T,
Langeslag M,
Lenartowicz EM,
Manion J,
Fell CW,
Alehabib E,
Tafakhori A,
Darvish H,
Bellefroid EJ,
Neely GG,
Kress M,
Penninger JM,
Nagy V.
Front Mol Neurosci. 2021 Sep 27;14:720973. doi: 10.3389/fnmol.2021.720973. eCollection 2021.
2021
Network analysis reveals rare disease signatures across multiple levels of biological organization.
Buphamalai P,
Kokotovic T,
Nagy V,
Menche J.
Nat Commun. 2021 Nov 9;12(1):6306. doi: 10.1038/s41467-021-26674-1.
2021
Expanding the known phenotype of Mullegama-Klein-Martinez syndrome in male patients.
Freyberger F,
Kokotović T,
Krnjak G,
Frković SH,
Nagy V.
Hum Genome Var. 2021 Sep 27;8(1):37. doi: 10.1038/s41439-021-00169-3.
2022
Transcription factor mesenchyme homeobox protein 2 (MEOX2) modulates nociceptor function
Tomislav Kokotović,
Ewelina M Lenartowicz,
Michiel Langeslag,
Cosmin I Ciotu,
Christopher W Fell,
Angelica Scaramuzza,
Michael J M Fischer,
Michaela Kress,
Josef M Penninger,
Vanja Nagy.
FEBS J. 2022 Jun;289(12):3457-3476. doi: 10.1111/febs.16347. Epub 2022 Feb 16.
2022
Leu226Trp CACNA1A variant associated with juvenile myoclonic epilepsy with and without intellectual disability
Elham Alehabib,
Tomislav Kokotović,
Sakineh Ranji-Burachaloo,
Abbas Tafakhori,
Samira Molaei Ramshe,
Zahra Esmaeilizadeh,
Hossein Darvish,
Abolfazl Movafagh,
Vanja Nagy.
Clin Neurol Neurosurg. 2022 Feb;213:107108. doi: 10.1016/j.clineuro.2021.107108. Epub 2021 Dec 30.
2020
PRDM12: New Opportunity in Pain Research.
Imhof S,
Kokotović T,
Nagy V.
Trends Mol Med. 2020 Oct;26(10):895-897. doi: 10.1016/j.molmed.2020.07.007. Epub 2020 Aug 20.
2021
Cellular Models and High-Throughput Screening for Genetic Causality of Intellectual Disability.
Fell CW,
Nagy V.
Trends Mol Med. 2021 Mar;27(3):220-230. doi: 10.1016/j.molmed.2020.12.003. Epub 2021 Jan 2.
2019
HACE1 deficiency leads to structural and functional neurodevelopmental defects.
Nagy V,
Hollstein R,
Pai TP,
Herde MK,
Buphamalai P,
Moeseneder P,Lenartowicz E,
Kavirayani A,
Korenke GC,
Kozieradzki I,
Nitsch R,
Cicvaric A,Monje Quiroga FJ,
Deardorff MA,
Bedoukian EC,
Li Y,
Yigit G,
Menche J,
Perçin EF,Wollnik B,
Henneberger C,
Kaiser FJ,
Penninger JM.
Neurol Genet. 2019 Apr29;5(3):e330. doi: 10.1212/NXG.0000000000000330. eCollection 2019 Jun. PubMedPMID: 31321300;
