Isaac Marin-Valencia - Publications

2017 Rockefeller University, New York, NY, United States 

5 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2017 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, et al. Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. American Journal of Human Genetics. PMID 28823706 DOI: 10.1016/J.Ajhg.2017.07.015  0.32
2017 Marin-Valencia I, Novarino G, Johansen A, Rosti B, Issa MY, Musaev D, Bhat G, Scott E, Silhavy JL, Stanley V, Rosti RO, Gleeson JW, Imam FB, Zaki MS, Gleeson JG. A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features. Journal of Medical Genetics. PMID 28626029 DOI: 10.1136/Jmedgenet-2017-104627  0.32
2017 Rosti RO, Sotak BN, Bielas SL, Bhat G, Silhavy JL, Aslanger AD, Altunoglu U, Bilge I, Tasdemir M, Yzaguirrem AD, Musaev D, Infante S, Thuong W, Marin-Valencia I, Nelson SF, et al. Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. Journal of Medical Genetics. PMID 28280135 DOI: 10.1136/Jmedgenet-2016-104237  0.32
2017 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, ... ... Marin-Valencia I, et al. Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nature Genetics. PMID 28092684 DOI: 10.1038/Ng.3762  0.32
2016 Zaki MS, Bhat G, Sultan T, Issa M, Jung HJ, Dikoglu E, Selim L, Gamal I, Abdel-Hamid MS, Abdel-Salam G, Marin-Valencia I, Gleeson JG. PYCR2 mutations cause a lethal syndrome of microcephaly and failure to thrive. Annals of Neurology. PMID 27130255 DOI: 10.1002/Ana.24678  0.32
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