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Familial natural short sleep mutations reduce Alzheimer pathology in mice. iScience. 2022 Mar.

Microglia are involved in the protection of memories formed during sleep deprivation. Neurobiol Sleep Circadian Rhythms. 2021 Dec

Human circadian variations. J Clin Invest, 2021 Aug

Age-Dependent neurological phenotypes in a mouse model of PRRT2-related diseases. Neurogenetics. 2021 June 8.

Mutations in Metabotropic Glutamate Receptor 1 Contribute to Natural Short Sleep Trait. Current Biology. 2021 Jan 11

Genetics of Human Circadian Clock and Sleep Homeostat. Neuropsychopharmacology. 2020 Jan

Mutant neuropeptide S receptor reduces sleep duration with preserved memory consolidation. Science Translational Medicine. 2019 Oct 16

A Rare Mutation of β1-Adrenergic Receptor Affects Sleep/Wake Behaviors. Neuron. 2019 Aug 10

Genetics of the human circadian clock and sleep homeostat. Neuropsychopharmacology. 2019 Aug 10

Extreme morning chronotypes are often familial and not exceedingly rare: the estimated prevalence of advanced sleep phase, familial advanced sleep phase, and advanced sleep-wake phase disorder in a sleep clinic population. Sleep. 2019 Aug 6

TIMELESS mutation alters phase responsiveness and causes advanced sleep phase. PNAS. 2019 May 28

Molecular Genetics of Human Sleep Behaviors. FASEB Journal. 2019 April 1

Disorders of Sleep and Circadian rhythms. Handbook Clin Neurology. 2018

DEC2 modulates orexin expression and regulates sleep. Proc Natl Acad Sci. 2018 March 12

Human Genetics and Sleep Behavior. Curr Opin Neurobiol. 2017 Jun

FAD Regulates CRYPTOCHROME Protein Stability and Circadian Clock in Mice. Cell Reports. 2017 April 11

A Cryptochrome 2 Mutation Yields Advanced Sleep Phase in Human. Elife. 2016 Aug 16

A PERIOD3 variant causes a circadian phenotype and is associated with a seasonal mood trait. Proc Natl Acad Sci . 2016 Feb 22

A protein mutated in paroxysmal dyskinesia suppresses synaptic vesicle exocytosis through the active zone protein RIM Proc Natl Acad Sci USA. 2015 Mar 10;112(10):2935-41

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miR-23 Regulation of Lamin B1 is Critical for Oligodendrocyte Development and Myelination. Disease Model and Mechanism 2009 2:178-188

Nuclear envelope protein MAN1 regulates clock through BMAL1. Elife. 2014 Sep 2;3:e02981

Very large G protein-coupled receptor 1 regulates myelin-associated glycoprotein via Gαs/Gαq-mediated protein kinase A/C. Proc Natl Acad Sci USA. 2013 Nov 19;110(47):19101-6

miR-23a Promotes Myelination in the Central Nervous System. Proc Natl Acad Sci USA. 2013 Oct 22;110(43):17468-73

Lamin B1 Mediates Cell-Autonomous Neuropathology in a Leukodystrophy Mouse Model. J Clin Invest. 2013 June 1: 123(6):2719-29

Casein kinase Iδ mutations in familial migraine and advanced sleep phase. Science Translational Medicine. 2013 May 1;5(183):183ra53

Glucose Sensor O-GlcNAcylation Coordinates with Phosphorylation to Regulate Circadian Clock. Cell Metab. 2013 Feb 5;17(2):291-302

PKCγ Participates in the Entrainment of the Cerebral Circadian Clocks by Feeding. Proc Natl Acad Sci USA. 2012 Dec 11;109(50):20679-84

iBiology-Genetics of Human Circadian Rhythms and Sleep

Familial Cortical Myoclonus Caused by Mutation in NOL3. Annals of Neurology. 2012 Aug;72(2):175-83

miR-32 and its target SLC45A3 regulate the lipid metabolism of oligodendrocytes and myelin. Neuroscience. 2012 Jun 28; 213:29-37

Dopamine dysregulation in a mouse model of paroxysmal non-kinesigenic dyskinesia. Journal of Clinical Investigation.2012 Feb 1; 122(2):507-18

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Mutations in PNKD causing paroxysmal dyskinesia alter protein cleavage and stability. Hum Mol Genet 2011 Jun 15; 20(12):2322-32

Dicer Ablation in Oligodendrocytes Provokes Neuronal Iimpairment in Mice. Annal Neurology 2009, 66(6):843-57

The transcriptional repressor DEC2 regulates sleep length in mammals. Science 2009 325:866

New Developments in Sleep Research: Molecular Genetics, Gene Expression, and Systems Neurobiology. J. of Neuroscience. J of Neuroscience 2008 28(46):11814-11818

Paroxysmal Non-Kinesigenic Dyskinesia caused by the mutation of MR-1 in a large polish kindred. Eur Neurology. 2008 Oct 24; 61(1): 39-41.

Flecainide suppresses bidirectional ventricular tachycardia and reverses tachycardia-induced cardiomyopathy in Andersen-Tawil Syndrome. J Cardiovasc Electrophysiol. 2008 Jan; 19(1):95-7.

Genetic association studies of the chromosome 15 GABA-A receptor cluster in migraine with aura. Am J Med Genet B Neuropsychiatr Genet. 2008 Jan 5; 147B (1):37-41.

Enrichment of HapMap recombination hotspot predictions around human nervous system genes: evidence for positive selection ? Eur J Hum Genet. 2007 Oct;15(10):1071-8

Bioinformatic analysis of human CNS-expressed ion channels as candidates for episodic nervous system disorders. Neurogenetics. 2007 Aug;8(3):159-68.

Human Recombination Rates Are Increased Around Accelerated Conserved Regions – Evidence for Continued Selection? Bioinformatics. 2007 Jun 15;23(12):1441-3

Genotype-phenotype correlation of proxysmal nonkinesigenic dyskinesia. Neurology. 2007 May 22;68(21):1782-9.

FAME 3: a novel form of progressive myoclonus and epilepsy. Neurology. 2007 Apr 24;68(17):1382-9.

Modeling of a Human Circadian Mutation Yields Insights into Clock Regulation by PER2; Cell. 2007 Jan 12;128(1):59-70

Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet. 2006 Oct; 38(10):1114-23.

Andersen-Tawil syndrome: definition of a neurocognitive phenotype. Neurology. 2006 Jun13;66(11):1703-10.

Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype. Am J Med Genet A. 2006 Feb;140(4):312-21

Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome; Nature, Vol 434, 640-44, 31 March 2005

An hPer2 Phosphorylation Site Mutation in Familial Advanced Sleep Phase Syndrome; Science, Vol 291, 1040-43, 9 February 2001

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