Profound obesity associated with a balanced translocation that disrupts the SIM1 gene JL Holder Jr, NF Butte, AR Zinn Human molecular genetics 9 (1), 101-108, 2000 | 472 | 2000 |
The transcriptional repressor DEC2 regulates sleep length in mammals Y He, CR Jones, N Fujiki, Y Xu, B Guo, JL Holder Jr, MJ Rossner, ... Science 325 (5942), 866-870, 2009 | 407 | 2009 |
SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties K Han, JL Holder Jr, CP Schaaf, H Lu, H Chen, H Kang, J Tang, Z Wu, ... Nature 503 (7474), 72-77, 2013 | 372 | 2013 |
A PP2A-B55 recognition signal controls substrate dephosphorylation kinetics during mitotic exit MJ Cundell, LH Hutter, R Nunes Bastos, E Poser, J Holder, S Mohammed, ... Journal of Cell Biology 214 (5), 539-554, 2016 | 171 | 2016 |
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations S De Rubeis, PM Siper, A Durkin, J Weissman, F Muratet, D Halpern, ... Molecular autism 9, 1-20, 2018 | 164 | 2018 |
The BEG (PP2A-B55/ENSA/Greatwall) pathway ensures cytokinesis follows chromosome separation MJ Cundell, RN Bastos, T Zhang, J Holder, U Gruneberg, B Novak, ... Molecular cell 52 (3), 393-405, 2013 | 161 | 2013 |
Sim1 Haploinsufficiency Impairs Melanocortin-Mediated Anorexia and Activation of Paraventricular Nucleus Neurons BM Kublaoui, JL Holder Jr, T Gemelli, AR Zinn Molecular Endocrinology 20 (10), 2483-2492, 2006 | 141 | 2006 |
A molecular mechanism of mitotic centrosome assembly in Drosophila PT Conduit, JH Richens, A Wainman, J Holder, CC Vicente, MB Pratt, ... Elife 3, e03399, 2014 | 127 | 2014 |
A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures VA Gennarino, EE Palmer, LM McDonell, L Wang, CJ Adamski, A Koire, ... Cell 172 (5), 924-936. e11, 2018 | 126 | 2018 |
TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features S Balestrini, M Milh, C Castiglioni, K Lüthy, MJ Finelli, P Verstreken, ... Neurology 87 (1), 77-85, 2016 | 119 | 2016 |
Sim1 gene dosage modulates the homeostatic feeding response to increased dietary fat in mice JL Holder Jr, L Zhang, BM Kublaoui, RJ DiLeone, OK Oz, CH Bair, ... American Journal of Physiology-Endocrinology and Metabolism 287 (1), E105-E113, 2004 | 115 | 2004 |
SIM1 Overexpression Partially Rescues Agouti Yellow and Diet-Induced Obesity by Normalizing Food Intake BM Kublaoui, JL Holder, KP Tolson, T Gemelli, AR Zinn Endocrinology 147 (10), 4542-4549, 2006 | 90 | 2006 |
Getting out of mitosis: spatial and temporal control of mitotic exit and cytokinesis by PP 1 and PP 2A J Holder, E Poser, FA Barr FEBS letters 593 (20), 2908-2924, 2019 | 76 | 2019 |
MAD1-dependent recruitment of CDK1-CCNB1 to kinetochores promotes spindle checkpoint signaling T Alfonso-Pérez, D Hayward, J Holder, U Gruneberg, FA Barr Journal of Cell Biology 218 (4), 1108-1117, 2019 | 71 | 2019 |
The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss‐of‐function mutations JL Holder Jr, MM Quach Epilepsia 57 (10), 1651-1659, 2016 | 71 | 2016 |
An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function L Wang, K Pang, K Han, CJ Adamski, W Wang, L He, JK Lai, VV Bondar, ... Molecular psychiatry 25 (10), 2534-2555, 2020 | 70 | 2020 |
SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits SD Michaelson, ED Ozkan, M Aceti, S Maity, N Llamosas, M Weldon, ... Nature neuroscience 21 (12), 1-13, 2018 | 70 | 2018 |
CDK1-CCNB1 creates a spindle checkpoint–permissive state by enabling MPS1 kinetochore localization D Hayward, T Alfonso-Pérez, MJ Cundell, M Hopkins, J Holder, J Bancroft, ... Journal of Cell Biology 218 (4), 1182-1199, 2019 | 64 | 2019 |
Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27 S Peddibhotla, S Nagamani, A Erez, JV Hunter, JL Holder Jr, ME Carlin, ... European Journal of Human Genetics 23 (1), 54-60, 2015 | 63 | 2015 |
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females FC Radio, K Pang, A Ciolfi, MA Levy, A Hernández-García, L Pedace, ... The American Journal of Human Genetics 108 (3), 502-516, 2021 | 62 | 2021 |