publication venue for
- A novel copy number variant in the murine Cdh23 gene gives rise to profound deafness and vestibular dysfunction. 33:1648-1659. 2024
- Spinocerebellar Ataxia Type 1 protein Ataxin-1 is signaled to DNA damage by ataxia-telangiectasia mutated kinase. 30:706-715. 2021
- A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity. 28:3327-3338. 2019
- Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes. 27:3710-3719. 2018
- Neuronal pentraxin 1 depletion delays neurodegeneration and extends life in Sandhoff disease mice. 26:ddw422-ddw422. 2017
- Huntingtin is a scaffolding protein in the ATM oxidative DNA damage response complex. 26:ddw395-ddw395. 2017
- Targeting TEAD/YAP-transcription-dependent necrosis, TRIAD, ameliorates Huntington’s disease pathology. 25:ddw303-ddw303. 2016
- Huntingtin N17 domain is a reactive oxygen species sensor regulating huntingtin phosphorylation and localization. 25:3937-3945. 2016
- Combinatorial therapeutic activation with heparin and AICAR stimulates additive effects on utrophin A expression in dystrophic muscles. 25:24-43. 2016
- Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals. 24:3582-3594. 2015
- Utrophin A is essential in mediating the functional adaptations of mdx mouse muscle following chronic AMPK activation. 24:1243-1255. 2015
- A huntingtin-mediated fast stress response halting endosomal trafficking is defective in Huntington's disease. 24:450-462. 2015
- Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. 23:2752-2768. 2014
- Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations. 23:2498-2510. 2014
- Live cell imaging and biophotonic methods reveal two types of mutant huntingtin inclusions. 23:2324-2338. 2014
- Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling. 23:2106-2119. 2014
- Deletion of tumor necrosis factor-α ameliorates neurodegeneration in Sandhoff disease mice. 22:3960-3975. 2013
- Loci influencing blood pressure identified using a cardiovascular gene-centric array. 22:3394-3395. 2013
- Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. 22:2055-2066. 2013
- Loci influencing blood pressure identified using a cardiovascular gene-centric array. 22:1663-1678. 2013
- The huntingtin N17 domain is a multifunctional CRM1 and Ran-dependent nuclear and cilial export signal. 22:1383-1394. 2013
- Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals. 22:184-201. 2013
- Individual common variants exert weak effects on the risk for autism spectrum disorders. 21:4781-4792. 2012
- Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression. 21:2572-2587. 2012
- Chronic AMPK activation evokes the slow, oxidative myogenic program and triggers beneficial adaptations in mdx mouse skeletal muscle. 20:3478-3493. 2011
- Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation. 20:2103-2115. 2011
- Mutant huntingtin causes defective actin remodeling during stress: defining a new role for transglutaminase 2 in neurodegenerative disease. 20:1937-1951. 2011
- A genome-wide scan for common alleles affecting risk for autism. 19:4072-4082. 2010
- Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes. 19:2706-2715. 2010
- AP-2α knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesis. 19:1791-1804. 2010
- A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia. 18:4189-4194. 2009
- Polygenic determinants of severe hypertriglyceridemia. 17:2894-2899. 2008
- A genome-wide association study of sporadic ALS in a homogenous Irish population. 17:768-774. 2008
- Huntingtin has a membrane association signal that can modulate huntingtin aggregation, nuclear entry and toxicity. 16:2600-2615. 2007
- Comparative genomic and functional analyses reveal a novel cis-acting PTEN regulatory element as a highly conserved functional E-box motif deleted in Cowden syndrome. 16:1058-1071. 2007
- Thalassemia in Sri Lanka: a progress report. 13:R203-R206. 2004
- Huntingtin contains a highly conserved nuclear export signal. 12:1393-1403. 2003
- Telomere maintenance by telomerase and by recombination can coexist in human cells. 10:1945-1952. 2001
- Sialidase-mediated depletion of GM2 ganglioside in Tay-Sachs neuroglia cells. 8:1111-1116. 1999
- The human telomerase catalytic subunit hTERT: organization of the gene and characterization of the promoter. 8:137-142. 1999
- Localization of dystrophin isoform Dp71 to the inner limiting membrane of the retina suggests a unique functional contribution of Dp71 in the retina. 7:1385-1391. 1998
- Reconstitution of Wild-Type or Mutant Telomerase Activity in Telomerase-Negative Immortal Human Cells. 7:1137-1141. 1998
- Cloning of the cDNA and Gene Encoding Mouse Lysosomal Sialidase and Correction of Sialidase Deficiency in Human Sialidosis and Mouse SM/J Fibroblasts. 7:115-120. 1998
- Apoptotic Cell Death in Mouse Models of GM2 Gangliosidosis and Observations on Human Tay-Sachs and Sandhoff Diseases. 6:1879-1885. 1997
- The Telomere Lengthening Mechanism in Telomerase-Negative Immortal Human Cells Does Not Involve the Telomerase RNA Subunit. 6:921-926. 1997
- Expression of the dystrophin isoform Dp71 in differentiating human fetal myogenic cultures. 5:1559-1566. 1996
- Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes. 5:633-638. 1996
- Dramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff Diseases. 5:1-14. 1996
- Cloning and characterization of alternatively spliced isoforms of Dp71. 4:1475-1483. 1995
- Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity. 4:551-558. 1995
- Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome. 4:2417-2419. 1995
- Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome. 2:1583-1587. 1993
- Dinucleotide repeat polymorphism at the D21S65 locus. 1:350-350. 1992