publication venue for
- Higher incidence of embryonic defects in mouse offspring conceived with assisted reproduction from fathers with sperm Epimutations.. ddad160. 2023
- Cardiolipin deficiency leads to the destabilization of mitochondrial magnesium channel MRS2 in Barth syndrome.. ddad153. 2023
- MCU-complex-mediated mitochondrial calcium signaling is impaired in Barth syndrome.. 31:376-385. 2022
- A novel mouse model of hemangiopericytoma due to loss of Tsc2.. 27:4169-4175. 2018
- Epistasis and destabilizing mutations shape gene expression variability in humans via distinct modes of action.. 25:4911-4919. 2016
- Gene network and familial analyses uncover a gene network involving Tbx5/Osr1/Pcsk6 interaction in the second heart field for atrial septation.. 25:1140-1151. 2016
- Mitochondrial disease genes COA6, COX6B and SCO2 have overlapping roles in COX2 biogenesis.. 25:660-671. 2016
- High-dose folic acid supplementation alters the human sperm methylome and is influenced by the MTHFR C677T polymorphism.. 24:6301-6313. 2015
- Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency.. 23:3596-3606. 2014
- Induced ablation of Bmp1 and Tll1 produces osteogenesis imperfecta in mice.. 23:3085-3101. 2014
- A methylome-wide study of aging using massively parallel sequencing of the methyl-CpG-enriched genomic fraction from blood in over 700 subjects.. 23:1175-1185. 2014
- Smooth muscle hyperplasia due to loss of smooth muscle -actin is driven by activation of focal adhesion kinase, altered p53 localization and increased levels of platelet-derived growth factor receptor-.. 22:3123-3137. 2013
- CREB-activity and nmnat2 transcription are down-regulated prior to neurodegeneration, while NMNAT2 over-expression is neuroprotective, in a mouse model of human tauopathy.. 21:251-267. 2012
- Dysregulation of Semaphorin7A/1-integrin signaling leads to defective GnRH-1 cell migration, abnormal gonadal development and altered fertility.. 20:4759-4774. 2011
- Context-dependent robustness to 5' splice site polymorphisms in human populations.. 20:1084-1096. 2011
- Meclizine is neuroprotective in models of Huntington's disease.. 20:294-300. 2011
- CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1.. 19:3614-3622. 2010
- Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9.. 18:2863-2874. 2009
- Age-associated alteration of gene expression patterns in mouse oocytes.. 13:2263-2278. 2004
- Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.. 4:309-312. 1995
- Neuronal overexpression of Ube3a isoform 2 causes behavioral impairments and neuroanatomical pathology relevant to 15q11.2-q13.3 duplication syndrome.. 26:3995-4010.
- The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology.. 17:111-118.