Publications

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

• 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]

• 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]

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]