Publications

List of publications by the Neuro-MIG network (COST Action CA16118) from 2017 to present:

  • Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi‑allelic isoform‑specific start‑loss mutations of essential genes can cause genetic diseases. Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi,  Woutje M. Berdowski, Maysoon Alsagob, Ivan Capo, Herma C. van der Linde, Paul van den Berg,  Edwin H. Jacobs,  Darija Putar,  Mehrnaz Ghazvini, Eleonora Aronica, Wilfred F. J. van IJcken, Walter G. de Valk, Evita Medici‑van den Herik, Marjon van Slegtenhorst, Lauren Brick, Mariya Kozenko, Jennefer N. Kohler, Jonathan A. Bernstein, Kristin G. Monaghan, Amber Begtrup, Rebecca Torene, Amna Al Futaisi, Fathiya Al Murshedi, Renjith Mani, Faisal Al Azri, Erik‑Jan Kamsteeg, Majid Mojarrad, Atieh Eslahi, Zaynab Khazaei, Fateme Massinaei Darmiyan, Mohammad Doosti, Ehsan Ghayoor Karimiani, Jana Vandrovcova, Faisal Zafar, Nuzhat Rana, Krishna K. Kandaswamy, Jozef Hertecant, Peter Bauer, Mohammed A. AlMuhaizea, Mustafa A. Salih, Mazhor Aldosary,  Rawan Almass, Laila Al‑Quait, Wafa Qubbaj, Serdar Coskun, Khaled O. Alahmadi, Muddathir H. A. Hamad, Salem Alwadaee, Khalid Awartani, Anas M. Dababo, Futwan Almohanna, Dilek Colak, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Murat Gunel, A. Gulhan Ercan‑Sencicek, Gouri Rao Passi, Huma Arshad Cheema, Stephanie Efthymiou, Henry Houlden, Aida M. Bertoli‑Avella, Alice S. Brooks, Kyle Retterer, Reza Maroofian, Namik Kaya, Tjakko J. van Ham, Tahsin Stefan Barakat. Acta Neuropathologica 2019 Dec 9 [Open Access]
  • TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities. Vandervore LV, Schot R, Milanese C, Smits DJ, Kasteleijn E, Fry AE, Pilz DT, Brock S, Börklü-Yücel E, Post M, Bahi-Buisson N, Sánchez-Soler MJ, van Slegtenhorst M, Keren B, Afenjar A, Coury SA, Tan WH, Oegema R, de Vries LS, Fawcett KA, Nikkels PGJ, Bertoli-Avella A, Al Hashem A, Alwabel AA, Tlili-Graiess K, Efthymiou S, Zafar F, Rana N, Bibi F, Houlden H, Maroofian R, Person RE, Crunk A, Savatt JM, Turner L, Doosti M, Karimiani EG, Saadi NW, Akhondian J, Lequin MH, Kayserili H, van der Spek PJ, Jansen AC, Kros JM, Verdijk RM, Milošević NJ, Fornerod M, Mastroberardino PG, Mancini GMS. Am J Hum Genet. 2019 Dec 5;105(6):1126-1147. [Open Access] 
  • Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS. Am J Hum Genet. 2019 Oct 3;105(4):689-705. [Open Access]
  • De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. Fry AE, Fawcett KA, Zelnik N, Yuan H, Thompson BAN, Shemer-Meiri L, Cushion TD, Mugalaasi H, Sims D, Stoodley N, Chung SK, Rees MI, Patel CV, Brueton LA, Layet V, Giuliano F, Kerr MP, Banne E, Meiner V, Lerman-Sagie T, Helbig KL, Kofman LH, Knight KM, Chen W, Kannan V, Hu C, Kusumoto H, Zhang J, Swanger SA, Shaulsky GH, Mirzaa GM, Muir AM, Mefford HC, Dobyns WB, Mackenzie AB, Mullins JGL, Lemke JR, Bahi-Buisson N, Traynelis SF, Iago HF, Pilz DT. Brain, Volume 141, Issue 3, 1 March 2018, Pages 698–712. [Open Access]

The following articles are from a Frontiers Research Topic: Functional Analyses for Malformations of Cortical Development. Edited by Orly Reiner, Carlos Cardoso and Laurent Nguyen.

The following articles are from a special issue of the European Journal of Medical Genetics: Malformations of the cerebral cortex : phenotypic delineation and refinement using next generation sequencing. Edited by Nadia Bahi-Buisson, Andrew E. Fry, Anna Jansen, and Grazia Mancini. Volume 61, Issue 12, Pages 729-790 (December 2018)