The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm A Helgadottir, G Thorleifsson, KP Magnusson, S Grétarsdottir, ... Nature genetics 40 (2), 217-224, 2008 | 858 | 2008 |
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS CY Chow, JE Landers, SK Bergren, PC Sapp, AE Grant, JM Jones, ... The American Journal of Human Genetics 84 (1), 85-88, 2009 | 499 | 2009 |
A TRP channel in the lysosome regulates large particle phagocytosis via focal exocytosis M Samie, X Wang, X Zhang, A Goschka, X Li, X Cheng, E Gregg, M Azar, ... Developmental cell 26 (5), 511-524, 2013 | 290 | 2013 |
In vivo, Pikfyve generates PI (3, 5) P2, which serves as both a signaling lipid and the major precursor for PI5P SN Zolov, D Bridges, Y Zhang, WW Lee, E Riehle, R Verma, GM Lenk, ... Proceedings of the National Academy of Sciences 109 (43), 17472-17477, 2012 | 242 | 2012 |
Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2 CJ Ferguson, GM Lenk, MH Meisler Human molecular genetics 18 (24), 4868-4878, 2009 | 234 | 2009 |
Whole genome expression profiling reveals a significant role for immune function in human abdominal aortic aneurysms GM Lenk, G Tromp, S Weinsheimer, Z Gatalica, R Berguer, H Kuivaniemi BMC genomics 8, 1-12, 2007 | 192 | 2007 |
Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome DS Auerbach, J Jones, BC Clawson, J Offord, GM Lenk, I Ogiwara, ... PloS one 8 (10), e77843, 2013 | 168 | 2013 |
Candidate-gene association study of mothers with pre-eclampsia, and their infants, analyzing 775 SNPs in 190 genes KAB Goddard, G Tromp, R Romero, JM Olson, Q Lu, Z Xu, N Parimi, ... Human heredity 63 (1), 1-16, 2007 | 161 | 2007 |
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase PM Campeau, GM Lenk, JT Lu, Y Bae, L Burrage, P Turnpenny, ... The American Journal of Human Genetics 92 (5), 781-791, 2013 | 141 | 2013 |
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4 G Nicholson, GM Lenk, SW Reddel, AE Grant, CF Towne, CJ Ferguson, ... Brain 134 (7), 1959-1971, 2011 | 130 | 2011 |
Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J GM Lenk, CJ Ferguson, CY Chow, N Jin, JM Jones, AE Grant, SN Zolov, ... PLoS genetics 7 (6), e1002104, 2011 | 129 | 2011 |
Lysosome enlargement during inhibition of the lipid kinase PIKfyve proceeds through lysosome coalescence CH Choy, G Saffi, MA Gray, C Wallace, RM Dayam, ZYA Ou, G Lenk, ... Journal of cell science 131 (10), jcs213587, 2018 | 117 | 2018 |
Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome GM Lenk, P Jafar‐Nejad, SF Hill, LD Huffman, CE Smolen, JL Wagnon, ... Annals of neurology 87 (3), 339-346, 2020 | 107 | 2020 |
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria S Baulac, GM Lenk, B Dufresnois, B Ouled Amar Bencheikh, P Couarch, ... Neurology 82 (12), 1068-1075, 2014 | 88 | 2014 |
C9 ORF 72 expansion in a family with bipolar disorder MH Meisler, AE Grant, JM Jones, GM Lenk, F He, PK Todd, M Kamali, ... Bipolar disorders 15 (3), 326-332, 2013 | 67 | 2013 |
Basic research studies to understand aneurysm disease. AM Boddy, GM Lenk, JH Lillvis, J Nischan, Y Kyo, H Kuivaniemi Drug news & perspectives 21 (3), 142-148, 2008 | 66 | 2008 |
Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration CJ Ferguson, GM Lenk, JM Jones, AE Grant, JJ Winters, JJ Dowling, ... Human molecular genetics 21 (16), 3525-3534, 2012 | 60 | 2012 |
Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy I Vaccari, A Carbone, SC Previtali, YA Mironova, V Alberizzi, R Noseda, ... Human molecular genetics 24 (2), 383-396, 2015 | 53 | 2015 |
Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI (3, 5) P2 phosphatase Fig4 JJ Winters, CJ Ferguson, GM Lenk, VI Giger-Mateeva, P Shrager, ... Journal of Neuroscience 31 (48), 17736-17751, 2011 | 52 | 2011 |
Biallelic mutations of VAC14 in pediatric-onset neurological disease GM Lenk, K Szymanska, G Debska-Vielhaber, M Rydzanicz, A Walczak, ... The American Journal of Human Genetics 99 (1), 188-194, 2016 | 49 | 2016 |