Recent Publications from IDDRC Investigators

YAP Partially Reprograms Chromatin Accessibility to Directly Induce Adult Cardiogenesis In Vivo.
Monroe, Tanner O; Hill, Matthew C; Morikawa, Yuka; Leach, John P; Heallen, Todd; Cao, Shuyi; Krijger, Peter H L; de Laat, Wouter; Wehrens, Xander H T; Rodney, George G; Martin, James F.
Dev Cell, 2019 Mar 25; PMID:30773489

Persistent motor dysfunction despite homeostatic rescue of cerebellar morphogenesis in the Car8 waddles mutant mouse.
Miterko, Lauren N; White, Joshua J; Lin, Tao; Brown, Amanda M; O'Donovan, Kevin J; Sillitoe, Roy V.
Neural Dev, 2019 Mar 12; PMID:30867000

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Burrage, Lindsay C; Reynolds, John J; Baratang, Nissan Vida; Phillips, Jennifer B; Wegner, Jeremy; McFarquhar, Ashley; Higgs, Martin R; Christiansen, Audrey E; Lanza, Denise G; Seavitt, John R; Jain, Mahim; Li, Xiaohui; Parry, David A; Raman, Vandana; Chitayat, David; Chinn, Ivan K; Bertuch, Alison A; Karaviti, Lefkothea; Schlesinger, Alan E; Earl, Dawn; Bamshad, Michael; Savarirayan, Ravi; Doddapaneni, Harsha; Muzny, Donna; Jhangiani, Shalini N; Eng, Christine M; Gibbs, Richard A; Bi, Weimin; Emrick, Lisa; Rosenfeld, Jill A; Postlethwait, John; Westerfield, Monte; Dickinson, Mary E; Beaudet, Arthur L; Ranza, Emmanuelle; Huber, Celine; Cormier-Daire, Valérie; Shen, Wei; Mao, Rong; Heaney, Jason D; Orange, Jordan S; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network; Bertola, Débora; Yamamoto, Guilherme L; Baratela, Wagner A R; Butler, Merlin G; Ali, Asim; Adeli, Mehdi; Cohn, Daniel H; Krakow, Deborah; Jackson, Andrew P; Lees, Melissa; Offiah, Amaka C; Carlston, Colleen M; Carey, John C; Stewart, Grant S; Bacino, Carlos A; Campeau, Philippe M; Lee, Brendan.
Am J Hum Genet, 2019 Mar 07; PMID:30773277

A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability.
Wang, Li; Adamski, Carolyn J; Bondar, Vitaliy V; Craigen, Evelyn; Collette, John R; Pang, Kaifang; Han, Kihoon; Jain, Antrix; Y Jung, Sung; Liu, Zhandong; Sifers, Richard N; Holder Jr, J Lloyd; Zoghbi, Huda Y.
Mol Psychiatry, 2019 Jan 29; PMID:30696942

An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function.
Wang, Li; Pang, Kaifang; Han, Kihoon; Adamski, Carolyn J; Wang, Wei; He, Lingjie; Lai, Jason K; Bondar, Vitaliy V; Duman, Joseph G; Richman, Ronald; Tolias, Kimberley F; Barth, Patrick; Palzkill, Timothy; Liu, Zhandong; Holder Jr, J Lloyd; Zoghbi, Huda Y.
Mol Psychiatry, 2019 Jan 04; PMID:30610205

Molecular layer interneurons shape the spike activity of cerebellar Purkinje cells.
Brown, Amanda M; Arancillo, Marife; Lin, Tao; Catt, Daniel R; Zhou, Joy; Lackey, Elizabeth P; Stay, Trace L; Zuo, Zhongyuan; White, Joshua J; Sillitoe, Roy V.
Sci Rep, 2019 Feb 11; PMID:30742002

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
Carvalho, Claudia M B; Coban-Akdemir, Zeynep; Hijazi, Hadia; Yuan, Bo; Pendleton, Matthew; Harrington, Eoghan; Beaulaurier, John; Juul, Sissel; Turner, Daniel J; Kanchi, Rupa S; Jhangiani, Shalini N; Muzny, Donna M; Gibbs, Richard A; Baylor-Hopkins Center for Mendelian Genomics; Stankiewicz, Pawel; Belmont, John W; Shaw, Chad A; Cheung, Sau Wai; Hanchard, Neil A; Sutton, V Reid; Bader, Patricia I; Lupski, James R.
Genome Med, 2019 04 23; PMID:31014393

Genetically eliminating Purkinje neuron GABAergic neurotransmission increases their response gain to vestibular motion.
Stay, Trace L; Laurens, Jean; Sillitoe, Roy V; Angelaki, Dora E.
Proc Natl Acad Sci U S A, 2019 02 19; PMID:30723151

Insights into cerebellar development and connectivity.
Beckinghausen, Jaclyn; Sillitoe, Roy V.
Neurosci Lett, 2019 01 01; PMID:29746896

RBM17 Interacts with U2SURP and CHERP to Regulate Expression and Splicing of RNA-Processing Proteins.
De Maio, Antonia; Yalamanchili, Hari Krishna; Adamski, Carolyn J; Gennarino, Vincenzo A; Liu, Zhandong; Qin, Jun; Jung, Sung Y; Richman, Ronald; Orr, Harry; Zoghbi, Huda Y.
Cell Rep, 2018 Oct 16; PMID:30332651

ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism.
Rousseaux, Maxime W C; Tschumperlin, Tyler; Lu, Hsiang-Chih; Lackey, Elizabeth P; Bondar, Vitaliy V; Wan, Ying-Wooi; Tan, Qiumin; Adamski, Carolyn J; Friedrich, Jillian; Twaroski, Kirk; Chen, Weili; Tolar, Jakub; Henzler, Christine; Sharma, Ajay; Bajic, Aleksandar; Lin, Tao; Duvick, Lisa; Liu, Zhandong; Sillitoe, Roy V; Zoghbi, Huda Y; Orr, Harry T.
Neuron, 2018 Mar 21; PMID:29526553

mGluR5 Tunes NGF/TrkA Signaling to Orient Spiny Stellate Neuron Dendrites Toward Thalamocortical Axons During Whisker-Barrel Map Formation.
Huang, Jui-Yen; Lu, Hui-Chen.
Cereb Cortex, 2018 Jun 01; PMID:28453662

mTOR-dependent alterations of Kv1.1 subunit expression in the neuronal subset-specific Pten knockout mouse model of cortical dysplasia with epilepsy.
Nguyen, Lena H; Anderson, Anne E.
Sci Rep, 2018 Feb 23; PMID:29476105

POU6f1 Mediates Neuropeptide-Dependent Plasticity in the Adult Brain.
McClard, Cynthia K; Kochukov, Mikhail Y; Herman, Isabella; Liu, Zhandong; Eblimit, Aiden; Moayedi, Yalda; Ortiz-Guzman, Joshua; Colchado, Daniel; Pekarek, Brandon; Panneerselvam, Sugi; Mardon, Graeme; Arenkiel, Benjamin R.
J Neurosci, 2018 Feb 07; PMID:29305536

Climbing Fiber Development Is Impaired in Postnatal Car8 wdl Mice.
Miterko, Lauren N; Sillitoe, Roy V.
Cerebellum, 2018 Feb; PMID:28940157

Single-Cell RNA-Seq of Mouse Olfactory Bulb Reveals Cellular Heterogeneity and Activity-Dependent Molecular Census of Adult-Born Neurons.
Tepe, Burak; Hill, Matthew C; Pekarek, Brandon T; Hunt, Patrick J; Martin, Thomas J; Martin, James F; Arenkiel, Benjamin R.
Cell Rep, 2018 Dec 04; PMID:30517858

A multicenter study to evaluate pulmonary function in osteogenesis imperfecta.
Tam, Allison; Chen, Shan; Schauer, Evan; Grafe, Ingo; Bandi, Venkata; Shapiro, Jay R; Steiner, Robert D; Smith, Peter A; Bober, Michael B; Hart, Tracy; Cuthbertson, David; Krischer, Jeffrey; Mullins, Mary; Byers, Peter H; Sandhaus, Robert A; Durigova, Michaela; Glorieux, Francis H; Rauch, Frank; Reid Sutton, Vernon; Lee, Brendan; Members of the Brittle Bone Disorders Consortium; Rush, Eric T; Nagamani, Sandesh C S.
Clin Genet, 2018 Dec; PMID:30152014

Bergmann Glia are Patterned into Topographic Molecular Zones in the Developing and Adult Mouse Cerebellum.
Reeber, Stacey L; Arancillo, Marife; Sillitoe, Roy V.
Cerebellum, 2018 Aug; PMID:24906823

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.
Ng, Bobby G; Rosenfeld, Jill A; Emrick, Lisa; Jain, Mahim; Burrage, Lindsay C; Lee, Brendan; Undiagnosed Diseases Network; Craigen, William J; Bearden, David R; Graham, Brett H; Freeze, Hudson H.
Am J Hum Genet, 2018 12 06; PMID:30503518

CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis.
di Ronza, Alberto; Bajaj, Lakshya; Sharma, Jaiprakash; Sanagasetti, Deepthi; Lotfi, Parisa; Adamski, Carolyn Joy; Collette, John; Palmieri, Michela; Amawi, Abdallah; Popp, Lauren; Chang, Kevin Tommy; Meschini, Maria Chiara; Leung, Hon-Chiu Eastwood; Segatori, Laura; Simonati, Alessandro; Sifers, Richard Norman; Santorelli, Filippo Maria; Sardiello, Marco.
Nat Cell Biol, 2018 12; PMID:30397314

Generation of an induced pluripotent stem cell line from an individual with a heterozygous RECQL4 mutation.
Jewell, Brittany E; Liu, Mo; Lu, Linchao; Zhou, Ruoji; Tu, Jian; Zhu, Dandan; Huo, Zijun; Xu, An; Wang, Donghui; Mata, Helen; Jin, Weidong; Xia, Weiya; Rao, Pulivarthi H; Zhao, Ruiying; Hung, Mien-Chie; Wang, Lisa L; Lee, Dung-Fang.
Stem Cell Res, 2018 12; PMID:30312871

Cerebellar Modules and Their Role as Operational Cerebellar Processing Units: A Consensus paper [corrected].
Apps, Richard; Hawkes, Richard; Aoki, Sho; Bengtsson, Fredrik; Brown, Amanda M; Chen, Gang; Ebner, Timothy J; Isope, Philippe; Jörntell, Henrik; Lackey, Elizabeth P; Lawrenson, Charlotte; Lumb, Bridget; Schonewille, Martijn; Sillitoe, Roy V; Spaeth, Ludovic; Sugihara, Izumi; Valera, Antoine; Voogd, Jan; Wylie, Douglas R; Ruigrok, Tom J H.
Cerebellum, 2018 10; PMID:29876802

IRF2BPL Is Associated with Neurological Phenotypes.
Marcogliese, Paul C; Shashi, Vandana; Spillmann, Rebecca C; Stong, Nicholas; Rosenfeld, Jill A; Koenig, Mary Kay; Martínez-Agosto, Julián A; Herzog, Matthew; Chen, Agnes H; Dickson, Patricia I; Lin, Henry J; Vera, Moin U; Salamon, Noriko; Graham Jr, John M; Ortiz, Damara; Infante, Elena; Steyaert, Wouter; Dermaut, Bart; Poppe, Bruce; Chung, Hyung-Lok; Zuo, Zhongyuan; Lee, Pei-Tseng; Kanca, Oguz; Xia, Fan; Yang, Yaping; Smith, Edward C; Jasien, Joan; Kansagra, Sujay; Spiridigliozzi, Gail; El-Dairi, Mays; Lark, Robert; Riley, Kacie; Koeberl, Dwight D; Golden-Grant, Katie; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network; Yamamoto, Shinya; Wangler, Michael F; Mirzaa, Ghayda; Hemelsoet, Dimitri; Lee, Brendan; Nelson, Stanley F; Goldstein, David B; Bellen, Hugo J; Pena, Loren D M.
Am J Hum Genet, 2018 08 02; PMID:30057031

MLL4 Is Required to Maintain Broad H3K4me3 Peaks and Super-Enhancers at Tumor Suppressor Genes.
Dhar, Shilpa S; Zhao, Dongyu; Lin, Tao; Gu, Bingnan; Pal, Khusboo; Wu, Sarah J; Alam, Hunain; Lv, Jie; Yun, Kyuson; Gopalakrishnan, Vidya; Flores, Elsa R; Northcott, Paul A; Rajaram, Veena; Li, Wei; Shilatifard, Ali; Sillitoe, Roy V; Chen, Kaifu; Lee, Min Gyu.
Mol Cell, 2018 06 07; PMID:29861161

Older Publications