10 publications found.
2026 | 2025 | 2024 | 2023 | 2022 | 2021 | 2020 | 2019 | 2018 | 2017 | 2016 | 2015 | 2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000 | 1999 | 1998 | 1997 | 1996 | 1995 | 1994 | 1993 | 1992
Ma M*, Lei X*, Li J*, Zheng Y, Yuan Y, Nitta Y, Mao X, Guo Z, Lu S, Deng M, Pan X, Kanca O, Liu S, Wang H, Xiao B, Schot R, Demirdas S, van Bever Y, van Slegtenhorst M, Barakat TS, Bian S#, Bellen HJ#, Long L# (2026). Bi-allelic variants in the secretory pathway gene SEC16A are associated with a neurodevelopmental disorder. Journal of Clinical Investigation Abstract *co-first authors #co-corresponding authors
Mok JW*, Welch CL*, Dostalik HA, Tan Z, Brautbar A, DesCartes M, Gray ET, Iglesias A, McLean SD, Nutter M, Daugherty O, Begtrup A, Wentzensen IM, Shen Y, Young DW, Matzuk MM, Baylor College of Medicine Center for Precision Medicine Models, Kanca O, Wangler MF, Bellen HJ, Chung WK#, Yamamoto S# (2026). A rare recurring gain-of-function variant in BMPR2 causes neurodevelopmental phenotypes in humans and flies. The American Journal of Human Genetics 113(10):2178-2194 Abstract *co-first authors #co-corresponding authors
Deng M, Ma M, Gomez VA, Zhao J, Lu S, Hannan SB, Baskin S, Khan A, Latner DR, Hiatt SM, Cooper GM, Parker MJ, Carroll T, Wortmann SB, Mayr JA, Boczek NJ, Rasmussen K, Kahn E, Lanpher B, Nava C, Courtin T, Gu M, Ma L, Zhao Y, Hashimoto H, Yamamoto S, Liu Z, Shulman JM, The Community Texome, Wangler MF#, Bellen HJ# (2026). Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy. The American Journal of Human Genetics 28:S0002-9297(26)00346-0 Abstract #co-corresponding authors
Aceves-Ewing NM, Lanza DG, Marcogliese PC, Lu D, Hsu CW, Gonzalez M, Christiansen AE, Rasmussen TL, Ho AJ, Gaspero A, Seavitt J, Dickinson ME, Yuan B, Shayota BJ, Pachter S, Hu X, Day-Salvatore DL, Mackay L, Kanca O, Wang MF, Potocki L, Rosenfeld JA, Lewis RA, Chao HT, Lee B, Lee S, Undiagnosed Diseases Network, Baylor College of Medicine Center for Precision Medicine Models, Yamamoto S, Bellen HJ, Burrage LC, Heaney JD (2026). Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling. Genetics in Medicine 28(9):102648 Abstract
Lu S, Ma M, Hannan SB, Deng M, Chen H, Yu Z, Goodman LD, Kim H, Zhao Y, Dubey SK, Lin WW, Pan X, Dutta D, Cuddapah VA, Rosenfeld JA, Luo X, Liu Z, Shulman JM#, Bellen HJ# (2026). Digenic variants that affect an actin-mitochondria-glutamate pathway cause epilepsy. Journal of Clinical Investigation 136(17):e198696 Abstract
Gu M, Zhao J, Deng M, Lin G, Pan X, Lin W, Ma M, Kim J, Byeon SK, Pandey A, Lange LM, Shaw CA, Kim J, Trinh J, Klein C, Kanca O, Shulman JM#,Bellen HJ# (2026). Two lysosomal genes ATP13A2 and GBA1 interact to drive neurodegeneration. Molecular Neurodegeneration 21(1):18 Abstract #co-corresponding authors
Bereshneh AH*, Wilson KA*, Pan X, Hannan S, Cooper MA , Diaz , Leon E, Moses TM, Azamian MS, Scott DA, Billie PY, Appendino JP, Scheffer IE, Kaspi A, Bahlo M, Hildebrand MS, Morgan AT, Ekure E, Baylor College of Medicine Center for Precision Medicine Models, Shulman JM, Hildebrandt F, Posey JE, Kruszka P, Vilain E, Yamamoto S, Kanca O, Berger S#, Bellen HJ# (2026). Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder. Genetics in Medicine 28(4):101685 Abstract *co-first authors #co-corresponding authors
Farmer SM, Xu S, Yu Y, Ye X, Yang H, Cai J, Rios B, Lin WW, Covarrubias D, Chuong V, Ye L, Zylberberg G, Wang C, Furr-Stimming E, Tong Q, Kanca O, Bellen HJ, Moore TI, Zhang S (2026). Rab4 spatially and functionally converges with Rab7 in the degradative endolysosomal network. Molecular Biology of the Cell 37(3):ar18 Abstract
Kanca O, Bellen HJ (2026). Drosophila as a Model Organism to Study Mendelian Diseases. Human Genetics, Vogel, Motulsky and Antonarakis: Problems and Approaches. Book chapter.
Yamamoto S*, Kanca O*, Wan KH, Johnson TK, Hashimoto H, Huang MC, Graves HK, Kashizadeh N, Bhavana VH, Pan H, Bei D, Jangam SV, Bhadane P, Fisher WW, Park S, Booth BW, Tomaru M, Ohsako T, Sugie A, Hu Y, Levis RW, Warr CG, Wangler MF, Takano-Shimizu T, Celniker SE, Bellen HJ# (2026). A Drosophila transgenic resource to study the function of human genes and genetic variants. PNAS :in review *co-first authors