A systems-biology approach to understanding the ciliopathy disorders

por Lee , Ji Eun, Gleeson, Joseph G
Publicado 2011

Subcellular Spatial Regulation of Canonical Wnt Signaling at the Primary Cilium

por Lancaster, Madeline A., Schroth, Jana, Gleeson, Joseph G.
Publicado 2011

Co-occurrence of Distinct Ciliopathy Diseases in Single Families Suggests Genetic Modifiers

por Zaki, Maha S, Sattar, Shifteh, Massoudi, Rustin A, Gleeson, Joseph G
Publicado 2011

Simultaneous multiple-excitation multiphoton microscopy yields increased imaging sensitivity and specificity

por Butko, Margaret T, Drobizhev, Mikhail, Makarov, Nikolay S, Rebane, Aleksander, Brinkman, Brendan C, Gleeson, Joseph G
Publicado 2011

A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

por Ali, Bassam R, Silhavy, Jennifer L, Akawi, Nadia A, Gleeson, Joseph G, Al-Gazali, Lihadh
Publicado 2012

A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion

por Ali, Bassam R, Silhavy, Jennifer L, Gleeson, Matthew J, Gleeson, Joseph G, Al-Gazali, Lihadh
Publicado 2012

Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration

por Tanaka, Teruyuki, Serneo, Finley F., Higgins, Christine, Gambello, Michael J., Wynshaw-Boris, Anthony, Gleeson, Joseph G.
Publicado 2004

Mutation spectrum of Joubert syndrome and related disorders among Arabs

por Ben-Salem, Salma, Al-Shamsi, Aisha M, Gleeson, Joseph G, Ali, Bassam R, Al-Gazali, Lihadh
Publicado 2014

Doublecortin-like kinase enhances dendritic remodelling and negatively regulates synapse maturation

por Shin, Euikyung, Kashiwagi, Yutaro, Kuriu, Toshihiko, Iwasaki, Hirohide, Tanaka, Teruyuki, Koizumi, Hiroyuki, Gleeson, Joseph G., Okabe, Shigeo
Publicado 2013

Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission

por Breuss, Martin W, Yang, Xiaoxu, Stanley, Valentina, McEvoy-Venneri, Jennifer, Xu, Xin, Morales, Arlene J, Gleeson, Joseph G
Publicado 2022

Biallelic BICD2 Variant is a Novel Candidate for Cohen-Like Syndrome

por Caglayan, Ahmet Okay, Tuysuz, Beyhan, Gül, Ece, Alkaya, Dilek Uludag, Yalcinkaya, Cengiz, Gleeson, Joseph G., Bilguvar, Kaya, Gunel, Murat
Publicado 2022

A Homozygous IER3IP1 Mutation Causes Microcephaly With Simplified Gyral Pattern, Epilepsy, and Permanent Neonatal Diabetes Syndrome (MEDS)

por Abdel-Salam, Ghada MH, Schaffer, Ashleigh E, Zaki, Maha S, Dixon-Salazar, Tracy, Mostafa, Inas S, Afifi, Hanan H, Gleeson, Joseph G
Publicado 2012

New Recessive Syndrome of Microcephaly, Cerebellar Hypoplasia, and Congenital Heart Conduction Defect

por Zaki, Maha S, Salam, Ghada M H Abdel, Saleem, Sahar N, Dobyns, William B, Issa, Mahmoud Y, Sattar, Shifteh, Gleeson, Joseph G
Publicado 2011

Functional genomic screen for modulators of ciliogenesis and cilium length

por Kim, Joon, Lee, Ji Eun, Heynen, Susanne, Suyama, Eigo, Ono, Keiichiro, Lee, KiYoung, Ideker, Trey, Aza-Blac, Pedro, Gleeson, Joseph G.
Publicado 2010

Virmid: accurate detection of somatic mutations with sample impurity inference

por Kim, Sangwoo, Jeong, Kyowon, Bhutani, Kunal, Lee, Jeong Ho, Patel, Anand, Scott, Eric, Nam, Hojung, Lee, Hayan, Gleeson, Joseph G, Bafna, Vineet
Publicado 2013

NSun2-Mediated Cytosine-5 Methylation of Vault Noncoding RNA Determines Its Processing into Regulatory Small RNAs

por Hussain, Shobbir, Sajini, Abdulrahim A., Blanco, Sandra, Dietmann, Sabine, Lombard, Patrick, Sugimoto, Yoichiro, Paramor, Maike, Gleeson, Joseph G., Odom, Duncan T., Ule, Jernej, Frye, Michaela
Publicado 2013

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

por Lancaster, Madeline A., Gopal, Dipika J., Kim, Joon, Saleem, Sahar N., Silhavy, Jennifer L., Louie, Carrie M., Thacker, Bryan E., Williams, Yuko, Zaki, Maha S., Gleeson, Joseph G.
Publicado 2011

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

por Paciorkowski, Alex R, Keppler-Noreuil, Kim, Robinson, Luther, Sullivan, Christopher, Sajan, Samin, Christian, Susan L, Bukshpun, Polina, Gabriel, Stacy B, Gleeson, Joseph G, Sherr, Elliott H, Dobyns, William B
Publicado 2013

An AKT3-FOXG1-Reelin Network Underlies Defective Migration in Human Focal Malformations of Cortical Development

por Baek, Seung Tae, Copeland, Brett, Yun, Eun-Jin, Kwon, Seok-Kyu, Guemez-Gamboa, Alicia, Schaffer, Ashleigh E., Kim, Sangwoo, Kang, Hoon-Chul, Song, Saera, Mathern, Gary W., Gleeson, Joseph G.
Publicado 2015

Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair

por Hanzlikova, Hana, Prokhorova, Evgeniia, Krejcikova, Katerina, Cihlarova, Zuzana, Kalasova, Ilona, Kubovciak, Jan, Sachova, Jana, Hailstone, Richard, Brazina, Jan, Ghosh, Shereen, Cirak, Sebahattin, Gleeson, Joseph G., Ahel, Ivan, Caldecott, Keith W.
Publicado 2020