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]

• MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, Szczałuba K, Kobori J, Hanson-Kahn A, Bernstein JA, Carr L, D'Arco F, Miyana K, Okazaki T, Saito Y, Sasaki M, Das S, Wheeler MM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Center for Mendelian Genomics at the Broad Institute of MIT and Harvard, Engle EC, Verheijen FW, Doherty D, Mancini GMS. Am J Hum Genet. 2018 Dec 6;103(6):1009-1021. [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 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)

• TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly. Cavallin M, Maillard C, Hully M, Philbert M, Boddaert N, Reilly ML, Nitschké P, Bery A, Bahi-Buisson N. Eur J Med Genet. 2018 Dec;61(12):729-732. [Open Access]

• Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations. Stouffs K, Moortgat S, Vanderhasselt T, Vandervore L, Dica A, Mathot M, Keymolen K, Seneca S, Gheldof A, De Meirleir L, Jansen AC. Eur J Med Genet. 2018 Dec;61(12):733-737. [Open Access]

• Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway. Stutterd C, McGillivray G, Stark Z, Messazos B, Cameron F, White S; Melbourne Genomics Health Alliance, Mirzaa G, Leventer R. Eur J Med Genet. 2018 Dec;61(12):738-740. [Open Access]

• Neuro-MIG: A European network on brain malformations. Mancini GMS; Neuro-MIG Network (COST Action CA16118). Eur J Med Genet. 2018 Dec;61(12):741-743. [Open Access]

• Tubulin genes and malformations of cortical development. Romaniello R, Arrigoni F, Fry AE, Bassi MT, Rees MI, Borgatti R, Pilz DT, Cushion TD. Eur J Med Genet. 2018 Dec;61(12):744-754. [Open Access]

• Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.
  Cavallin M, Bery A, Maillard C, Salomon LJ, Bole C, Reilly ML, Nitschké P, Boddaert N, Bahi-Buisson N. Eur J Med Genet. 2018 Dec;61(12):755-758. [Open Access]

• Mutations in TBR1 gene leads to cortical malformations and intellectual disability. Vegas N, Cavallin M, Kleefstra T, de Boer L, Philbert M, Maillard C, Boddaert N, Munnich A, Hubert L, Bery A, Besmond C, Bahi-Buisson N. Eur J Med Genet. 2018 Dec;61(12):759-764. [Open Access]

• Further refinement of COL4A1 and COL4A2 related cortical malformations. Cavallin M, Mine M, Philbert M, Boddaert N, Lepage JM, Coste T, Lopez-Gonzalez V, Sanchez-Soler MJ, Ballesta-Martínez MJ, Remerand G, Pasquier L, Guët A, Chelly J, Lascelles K, Prieto-Morin C, Kossorotoff M, Tournier Lasserve E, Bahi-Buisson N. Eur J Med Genet. 2018 Dec;61(12):765-772. [Open Access]

• Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome. Deloison B, Sonigo P, Millischer-Bellaiche AE, Quibel T, Cavallin M, Benoist G, Quelin C, Jouk PS, Lev D, Alison M, Baumann C, Beldjord C, Razavi F, Bessières B, Boddaert N, Ville Y, Salomon LJ, Bahi-Buisson N. Eur J Med Genet. 2018 Dec;61(12):773-782. [Open Access]

• Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis.Vandervore LV, Schot R, Hoogeboom AJM, Lincke C, de Coo IF, Lequin MH, Dremmen M, van Unen LMA, Saris JJ, Jansen AC, van Slegtenhorst MA, Wilke M, Mancini GMS. Eur J Med Genet. 2018 Dec;61(12):783-789. [Open Access]