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Page 1
Primary cilia in the developing and mature brain.
Guemez-Gamboa A, Coufal NG, Gleeson JG. Guemez-Gamboa A, et al. Neuron. 2014 May 7;82(3):511-21. doi: 10.1016/j.neuron.2014.04.024. Neuron. 2014. PMID: 24811376 Free PMC article. Review.
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
Marin-Valencia I, Gerondopoulos A, Zaki MS, Ben-Omran T, Almureikhi M, Demir E, Guemez-Gamboa A, Gregor A, Issa MY, Appelhof B, Roosing S, Musaev D, Rosti B, Wirth S, Stanley V, Baas F, Barr FA, Gleeson JG. Marin-Valencia I, et al. Am J Hum Genet. 2017 Sep 7;101(3):441-450. doi: 10.1016/j.ajhg.2017.07.015. Epub 2017 Aug 17. Am J Hum Genet. 2017. PMID: 28823706 Free PMC article.
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.
Guemez-Gamboa A, Çağlayan AO, Stanley V, Gregor A, Zaki MS, Saleem SN, Musaev D, McEvoy-Venneri J, Belandres D, Akizu N, Silhavy JL, Schroth J, Rosti RO, Copeland B, Lewis SM, Fang R, Issa MY, Per H, Gumus H, Bayram AK, Kumandas S, Akgumus GT, Erson-Omay EZ, Yasuno K, Bilguvar K, Heimer G, Pillar N, Shomron N, Weissglas-Volkov D, Porat Y, Einhorn Y, Gabriel S, Ben-Zeev B, Gunel M, Gleeson JG. Guemez-Gamboa A, et al. Ann Neurol. 2018 Nov;84(5):638-647. doi: 10.1002/ana.25327. Epub 2018 Oct 4. Ann Neurol. 2018. PMID: 30178464 Free PMC article.
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Çağlayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG. Lardelli RM, et al. Nat Genet. 2017 Mar;49(3):457-464. doi: 10.1038/ng.3762. Epub 2017 Jan 16. Nat Genet. 2017. PMID: 28092684 Free PMC article.
Mutations in CSPP1 lead to classical Joubert syndrome.
Akizu N, Silhavy JL, Rosti RO, Scott E, Fenstermaker AG, Schroth J, Zaki MS, Sanchez H, Gupta N, Kabra M, Kara M, Ben-Omran T, Rosti B, Guemez-Gamboa A, Spencer E, Pan R, Cai N, Abdellateef M, Gabriel S, Halbritter J, Hildebrandt F, van Bokhoven H, Gunel M, Gleeson JG. Akizu N, et al. Am J Hum Genet. 2014 Jan 2;94(1):80-6. doi: 10.1016/j.ajhg.2013.11.015. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360807 Free PMC article.
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.
Guemez-Gamboa A, Nguyen LN, Yang H, Zaki MS, Kara M, Ben-Omran T, Akizu N, Rosti RO, Rosti B, Scott E, Schroth J, Copeland B, Vaux KK, Cazenave-Gassiot A, Quek DQ, Wong BH, Tan BC, Wenk MR, Gunel M, Gabriel S, Chi NC, Silver DL, Gleeson JG. Guemez-Gamboa A, et al. Nat Genet. 2015 Jul;47(7):809-13. doi: 10.1038/ng.3311. Epub 2015 May 25. Nat Genet. 2015. PMID: 26005868 Free PMC article.
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Spinelli E, Christensen KR, Bryant E, Schneider A, Rakotomamonjy J, Muir AM, Giannelli J, Littlejohn RO, Roeder ER, Schmidt B, Wilson WG, Marco EJ, Iwama K, Kumada S, Pisano T, Barba C, Vetro A, Brilstra EH, van Jaarsveld RH, Matsumoto N, Goldberg-Stern H, Carney PW, Andrews PI, El Achkar CM, Berkovic S, Rodan LH; Undiagnosed Diseases Network (UDN); McWalter K, Guerrini R, Scheffer IE, Mefford HC, Mandelstam S, Laux L, Millichap JJ, Guemez-Gamboa A, Nairn AC, Carvill GL. Spinelli E, et al. Among authors: guemez gamboa a. Ann Neurol. 2021 Aug;90(2):274-284. doi: 10.1002/ana.26147. Epub 2021 Jul 13. Ann Neurol. 2021. PMID: 34185323 Free PMC article.
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