Ansar, M., Ebstein, F., Özkoç, H., Paracha, S.A., Iwaszkiewicz, J., Gesemann, M., Zoete, V., Ranza, E., Santoni, F.A., Sarwar, M.T., Ahmed, J., Krüger, E., Bachmann-Gagescu, R., Antonarakis, S.E. (2020) Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature. Human molecular genetics. 29(7):1132-1143
|
Ansar, M., Riazuddin, S., Sarwar, M.T., Makrythanasis, P., Paracha, S.A., Iqbal, Z., Khan, J., Assir, M.Z., Hussain, M., Razzaq, A., Polla, D.L., Taj, A.S., Holmgren, A., Batool, N., Misceo, D., Iwaszkiewicz, J., de Brouwer, A.P.M., Guipponi, M., Hanquinet, S., Zoete, V., Santoni, F.A., Frengen, E., Ahmed, J., Riazuddin, S., van Bokhoven, H., Antonarakis, S.E. (2017) Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay. Genetics in medicine : official journal of the American College of Medical Genetics. 20(7):778-784
|
Bartoszewski, S., Dawidziuk, M., Kasica, N., Durak, R., Jurek, M., Podwysocka, A., Guilbride, D.L., Podlasz, P., Winata, C.L., Gawlinski, P. (2022) A Zebrafish/Drosophila Dual System Model for Investigating Human Microcephaly. Cells. 11(17)
|
Beunders, G., Voorhoeve, E., Golzio, C., Pardo, L.M., Rosenfeld, J.A., Talkowski, M.E., Simonic, I., Lionel, A.C., Vergult, S., Pyatt, R.E., van de Kamp, J., Nieuwint, A., Weiss, M.M., Rizzu, P., Verwer, L.E., van Spaendonk, R.M., Shen, Y., Wu, B.L., Yu, T., Yu, Y., Chiang, C., Gusella, J.F., Lindgren, A.M., Morton, C.C., van Binsbergen, E., Bulk, S., van Rossem, E., Vanakker, O., Armstrong, R., Park, S.M., Greenhalgh, L., Maye, U., Neill, N.J., Abbott, K.M., Sell, S., Ladda, R., Farber, D.M., Bader, P.I., Cushing, T., Drautz, J.M., Konczal, L., Nash, P., Reyes, E.D., Carter, M.T., Hopkins, E., Marshall, C.R., Osborne, L.R., Gripp, K.W., Thrush, D.L., Hashimoto, S., Gastier-Foster, J.M., Astbury, C., Ylstra, B., Meijers-Heijboer, H., Posthuma, D., Menten, B., Mortier, G., Scherer, S.W., Eichler, E.E., Girirajan, S., Katsanis, N., Groffen, A.J., and Sistermans, E.A. (2013) Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus. American journal of human genetics. 92(2):210-220
|
Brooks, S.S., Wall, A.L., Golzio, C., Reid, D.W., Kondyles, A., Willer, J.R., Botti, C., Nicchitta, C.V., Katsanis, N., Davis, E.E. (2014) A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans. Genetics. 198:723-33
|
Chen, T., Zhang, B., Ziegenhals, T., Prusty, A.B., Fröhler, S., Grimm, C., Hu, Y., Schaefke, B., Fang, L., Zhang, M., Kraemer, N., Kaindl, A.M., Fischer, U., Chen, W. (2019) A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing. PLoS Genetics. 15:e1008460
|
Coulter, M.E., Musaev, D., DeGennaro, E.M., Zhang, X., Henke, K., James, K.N., Smith, R.S., Hill, R.S., Partlow, J.N., Muna Al-Saffar, ., Kamumbu, A.S., Hatem, N., Barkovich, A.J., Aziza, J., Chassaing, N., Zaki, M.S., Sultan, T., Burglen, L., Rajab, A., Al-Gazali, L., Mochida, G.H., Harris, M.P., Gleeson, J.G., Walsh, C.A. (2020) Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival. Genetics in medicine : official journal of the American College of Medical Genetics. 22(6):1040-1050
|
|
Faundes, V., Jennings, M.D., Crilly, S., Legraie, S., Withers, S.E., Cuvertino, S., Davies, S.J., Douglas, A.G.L., Fry, A.E., Harrison, V., Amiel, J., Lehalle, D., Newman, W.G., Newkirk, P., Ranells, J., Splitt, M., Cross, L.A., Saunders, C.J., Sullivan, B.R., Granadillo, J.L., Gordon, C.T., Kasher, P.R., Pavitt, G.D., Banka, S. (2021) Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine. Nature communications. 12:833
|
Guemez-Gamboa, A., Nguyen, L.N., Yang, H., Zaki, M.S., Kara, M., Ben-Omran, T., Akizu, N., Rosti, R.O., Rosti, B., Scott, E., Schroth, J., Copeland, B., Vaux, K.K., Cazenave-Gassiot, A., Quek, D.Q., Wong, B.H., Tan, B.C., Wenk, M.R., Gunel, M., Gabriel, S., Chi, N.C., Silver, D.L., Gleeson, J.G. (2015) Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. Nature Genetics. 47(7):809-13
|
Mao, H., Pilaz, L.J., McMahon, J.J., Golzio, C., Wu, D., Shi, L., Katsanis, N., Silver, D.L. (2015) Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly. The Journal of neuroscience : the official journal of the Society for Neuroscience. 35:7003-18
|
Nakayama, T., Al-Maawali, A., El-Quessny, M., Rajab, A., Khalil, S., Stoler, J.M., Tan, W.H., Nasir, R., Schmitz-Abe, K., Hill, R.S., Partlow, J.N., Al-Saffar, M., Servattalab, S., LaCoursiere, C.M., Tambunan, D.E., Coulter, M.E., Elhosary, P.C., Gorski, G., Barkovich, A.J., Markianos, K., Poduri, A., Mochida, G.H. (2015) Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. American journal of human genetics. 96(5):709-19
|
Novorol, C., Burkhardt, J., Wood, K.J., Iqbal, A., Roque, C., Coutts, N., Almeida, A.D., He, J., Wilkinson, C.J., and Harris, W.A. (2013) Microcephaly models in the developing zebrafish retinal neuroepithelium point to an underlying defect in metaphase progression. Open Biology. 3(10):130065
|
Perez, Y., Bar-Yaacov, R., Kadir, R., Wormser, O., Shelef, I., Birk, O.S., Flusser, H., Birnbaum, R.Y. (2019) Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish. Brain : a journal of neurology. 142(3):574-585
|
Pode-Shakked, B., Barash, H., Ziv, L., Gripp, K.W., Flex, E., Barel, O., Carvalho, K.S., Scavina, M., Chillemi, G., Niceta, M., Eyal, E., Kol, N., Ben-Zeev, B., Bar-Yosef, O., Marek-Yagel, D., Bertini, E., Duker, A.L., Anikster, Y., Tartaglia, M., Raas-Rothschild, A. (2017) Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: Further delineation of a new chaperone-mediated tubulinopathy. Clinical genetics. 91(5):725-738
|
Reilly, M.L., Stokman, M.F., Magry, V., Jeanpierre, C., Alves, M., Paydar, M., Hellinga, J., Delous, M., Pouly, D., Failler, M., Martinovic, J., Loeuillet, L., Leroy, B., Tantau, J., Roume, J., Evans, C.G., Shan, X., Filges, I., Allingham, J.S., Kwok, B.H., Saunier, S., Giles, R.H., Benmerah, A. (2018) Loss of function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish. Human molecular genetics. 28(5):778-795
|
Serrano, R.J., Lee, C., Douek, A.M., Kaslin, J., Bryson-Richardson, R.J., Sztal, T.E. (2021) Novel pre-clinical model for CDKL5 Deficiency Disorder. Disease models & mechanisms. 15(3):
|
Stankiewicz, P., Khan, T.N., Szafranski, P., Slattery, L., Streff, H., Vetrini, F., Bernstein, J.A., Brown, C.W., Rosenfeld, J.A., Rednam, S., Scollon, S., Bergstrom, K.L., Parsons, D.W., Plon, S.E., Vieira, M.W., Quaio, C.R.D.C., Baratela, W.A.R., Acosta Guio, J.C., Armstrong, R., Mehta, S.G., Rump, P., Pfundt, R., Lewandowski, R., Fernandes, E.M., Shinde, D.N., Tang, S., Hoyer, J., Zweier, C., Reis, A., Bacino, C.A., Xiao, R., Breman, A.M., Smith, J.L., Deciphering Developmental Disorders Study, Katsanis, N., Bostwick, B., Popp, B., Davis, E.E., Yang, Y. (2017) Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. American journal of human genetics. 101(4):503-515
|
Tessadori, F., Giltay, J.C., Hurst, J.A., Massink, M.P., Duran, K., Vos, H.R., van Es, R.M., Scott, R.H., van Gassen, K.L.I., Bakkers, J., van Haaften, G. (2017) Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control. Nature Genetics. 49(11):1642-1646
|
Waters, A.M., Asfahani, R., Carroll, P., Bicknell, L., Lescai, F., Bright, A., Chanudet, E., Brooks, A., Christou-Savina, S., Osman, G., Walsh, P., Bacchelli, C., Chapgier, A., Vernay, B., Bader, D.M., Deshpande, C., O' Sullivan, M., Ocaka, L., Stanescu, H., Stewart, H.S., Hildebrandt, F., Otto, E., Johnson, C.A., Szymanska, K., Katsanis, N., Davis, E., Kleta, R., Hubank, M., Doxsey, S., Jackson, A., Stupka, E., Winey, M., Beales, P.L. (2015) The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. Journal of Medical Genetics. 52:147-56
|
|