16pdel lipid changes in iPSC-derived neurons and function of FAM57B in lipid metabolism and synaptogenesis

Targeting the RHOA pathway improves learning and memory in adult Kctd13 and 16p11.2 deletion mouse models

(2021) Sandra Martin Lorenzo et al.   Molecular Autism

Who ever heard of 16p11.2 deletion syndrome? Parents’ perspectives on a susceptibility copy number variation syndrome

(2020) Lotte Kleinendorst et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Language characterization in 16p11.2 deletion and duplication syndromes

(2020) So Hyun Kim et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Vascular contributions to 16p11.2 deletion autism syndrome modeled in mice

(2020) Julie Ouellette et al.   NATURE NEUROSCIENCE

Understanding the clinical manifestations of 16p11.2 deletion syndrome

(2020) Rana Fetit et al.   PSYCHIATRIC GENETICS

Noninvasive Multielectrode Array for Brain and Spinal Cord Local Field Potential Recordings from Live Zebrafish Larvae

(2020) Danielle L. Tomasello et al.   Zebrafish

Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome

(2020) Eva M.M. Hoytema van Konijnenburg et al.   Molecular Genetics and Metabolism Reports

Correction: Psychiatric disorders in children with 16p11.2 deletion and duplication

(2019) Maria Niarchou et al.   Translational Psychiatry

Protocol Update for large-scale genome and gene function analysis with the PANTHER classification system (v.14.0)

(2019) Huaiyu Mi et al.   Nature Protocols

Sensorimotor cortical oscillations during movement preparation in 16p11.2 deletion carriers

(2019) Leighton B.N. Hinkley et al.   JOURNAL OF NEUROSCIENCE

Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma

(2019) Laura E. Egolf et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals

(2019) Giuliana Giannuzzi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants

(2019) F. Kyle Satterstrom et al.   NATURE NEUROSCIENCE

Parallel Reaction Monitoring reveals structure-specific ceramide alterations in the zebrafish

(2019) Tejia Zhang et al.   Scientific Reports

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

(2018) Sandra Martin-Brevet et al.   BIOLOGICAL PSYCHIATRY

OUP accepted manuscript

(2018)   BRAIN

Major Vault Protein, a Candidate Gene in 16p11.2 Microdeletion Syndrome, Is Required for the Homeostatic Regulation of Visual Cortical Plasticity

(2018) Jacque P.K. Ip et al.   JOURNAL OF NEUROSCIENCE

Extracellular vesicle budding is inhibited by redundant regulators of TAT-5 flippase localization and phospholipid asymmetry

(2018) Katharina B. Beer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Brain MR Imaging Findings and Associated Outcomes in Carriers of the Reciprocal Copy Number Variation at 16p11.2

(2018) Julia P. Owen et al.   RADIOLOGY

Neuronal Lipid Metabolism: Multiple Pathways Driving Functional Outcomes in Health and Disease

(2018) Timothy J. Tracey et al.   Frontiers in Molecular Neuroscience

Loss of the Chr16p11.2 ASD candidate gene QPRT leads to aberrant neuronal differentiation in the SH-SY5Y neuronal cell model

(2018) Denise Haslinger et al.   Molecular Autism

Extended Synaptotagmin Localizes to Presynaptic ER and Promotes Neurotransmission and Synaptic Growth inDrosophila

(2017) Koto Kikuma et al.   GENETICS

The 16p11.2 homologs fam57ba and doc2a generate certain brain and body phenotypes

(2017) Jasmine M. McCammon et al.   HUMAN MOLECULAR GENETICS

Synaptotagmin-1- and Synaptotagmin-7-Dependent Fusion Mechanisms Target Synaptic Vesicles to Kinetically Distinct Endocytic Pathways

(2017) Ying C. Li et al.   NEURON

Evolution of complexity in the zebrafish synapse proteome

(2017) Àlex Bayés et al.   Nature Communications

Cellular Phenotypes in Human iPSC-Derived Neurons from a Genetic Model of Autism Spectrum Disorder

(2017) Aditi Deshpande et al.   Cell Reports

Extended Synaptotagmin Localizes to Presynaptic ER and Promotes Neurotransmission and Synaptic Growth inDrosophila

(2017) Koto Kikuma et al.   GENETICS

Specialized roles of neurofilament proteins in synapses: Relevance to neuropsychiatric disorders

(2016) Aidong Yuan et al.   BRAIN RESEARCH BULLETIN

Extended synaptotagmins are Ca2+-dependent lipid transfer proteins at membrane contact sites

(2016) Haijia Yu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes

(2016) Thomas Arbogast et al.   PLoS Genetics

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

(2016) Debra D’Angelo et al.   JAMA Psychiatry

Transcriptomic signatures of neuronal differentiation and their association with risk genes for autism spectrum and related neuropsychiatric disorders

(2016) A G Chiocchetti et al.   Translational Psychiatry

DrosophilaHomolog of Human KIF22 at the Autism-Linked 16p11.2 Loci Influences Synaptic Connectivity at Larval Neuromuscular Junctions

(2016) Sang Mee Park et al.   Experimental Neurobiology

Binding Cooperativity Matters: A GM1-Like Ganglioside-Cholera Toxin B Subunit Binding Study Using a Nanocube-Based Lipid Bilayer Array

(2016) Nolan C. Worstell et al.   PLoS One

The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population

(2015) Ellen Hanson et al.   BIOLOGICAL PSYCHIATRY

Challenges in understanding psychiatric disorders and developing therapeutics: a role for zebrafish

(2015) J. M. McCammon et al.   Disease Models & Mechanisms

CRISPR–Cas9-mediated genome editing and guide RNA design

(2015) Michael V. Wiles et al.   MAMMALIAN GENOME

Spatiotemporal 16p11.2 Protein Network Implicates Cortical Late Mid-Fetal Brain Development and KCTD13-Cul3-RhoA Pathway in Psychiatric Diseases

(2015) Guan Ning Lin et al.   NEURON

Novel Rare Missense Variations and Risk of Autism Spectrum Disorder: Whole-Exome Sequencing in Two Families with Affected Siblings and a Two-Stage Follow-Up Study in a Japanese Population

(2015) Jun Egawa et al.   PLoS One

Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy

(2014) Nicola Vanni et al.   ANNALS OF NEUROLOGY

Opposing Brain Differences in 16p11.2 Deletion and Duplication Carriers

(2014) A. Y. Qureshi et al.   JOURNAL OF NEUROSCIENCE

The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity

(2014) A M Maillard et al.   MOLECULAR PSYCHIATRY

Polyunsaturated fatty acids and their metabolites in brain function and disease

(2014) Richard P. Bazinet et al.   NATURE REVIEWS NEUROSCIENCE

Zebrafish as an emerging model for studying complex brain disorders

(2014) Allan V. Kalueff et al.   TRENDS IN PHARMACOLOGICAL SCIENCES

Development of a lipid profiling system using reverse-phase liquid chromatography coupled to high-resolution mass spectrometry with rapid polarity switching and an automated lipid identification software

(2013) Takayuki Yamada et al.   JOURNAL OF CHROMATOGRAPHY A

Developing zebrafish models of autism spectrum disorder (ASD)

(2013) Adam Michael Stewart et al.   PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY

Genetic Screens in Human Cells Using the CRISPR-Cas9 System

(2013) Tim Wang et al.   SCIENCE

Multiplex Genome Engineering Using CRISPR/Cas Systems

(2013) L. Cong et al.   SCIENCE

Lipid Transport between the Endoplasmic Reticulum and Mitochondria

(2013) V. V. Flis et al.   Cold Spring Harbor Perspectives in Biology

Fam57b(Family with Sequence Similarity 57, Member B), a Novel Peroxisome Proliferator-activated Receptor γ Target Gene That Regulates Adipogenesis through Ceramide Synthesis

(2012) Yzumi Yamashita-Sugahara et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Modulation of Ceramide Synthase Activity via Dimerization

(2012) Elad L. Laviad et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

(2012) Flore Zufferey et al.   JOURNAL OF MEDICAL GENETICS

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

(2012) Christelle Golzio et al.   NATURE

Autism spectrum disorder susceptibility gene TAOK2 affects basal dendrite formation in the neocortex

(2012) Froylan Calderon de Anda et al.   NATURE NEUROSCIENCE

Simons Variation in Individuals Project (Simons VIP): A Genetics-First Approach to Studying Autism Spectrum and Related Neurodevelopmental Disorders

(2012) The Simons VIP Consortium   NEURON

Serum Lipidomics Profiling Using LC–MS and High-Energy Collisional Dissociation Fragmentation: Focus on Triglyceride Detection and Characterization

(2011) Susan S. Bird et al.   ANALYTICAL CHEMISTRY

Rare copy number variants are an important cause of epileptic encephalopathies

(2011) Heather C. Mefford et al.   ANNALS OF NEUROLOGY

Modeling Neurodegeneration in Zebrafish

(2011) Yanwei Xi et al.   Current Neurology and Neuroscience Reports

Acyl Chain Specificity of Ceramide Synthases Is Determined within a Region of 150 Residues in the Tram-Lag-CLN8 (TLC) Domain

(2011) Rotem Tidhar et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Synaptotagmin 1 Modulates Lipid Acyl Chain Order in Lipid Bilayers by Demixing Phosphatidylserine

(2011) Alex L. Lai et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Chain length-specific properties of ceramides

(2011) Sabine Grösch et al.   PROGRESS IN LIPID RESEARCH

Epithelial relaxation mediated by the myosin phosphatase regulator Mypt1 is required for brain ventricle lumen expansion and hindbrain morphogenesis

(2010) J. H. Gutzman et al.   DEVELOPMENT

Precise and global identification of phospholipid molecular species by an Orbitrap mass spectrometer and automated search engine Lipid Search

(2010) Ryo Taguchi et al.   JOURNAL OF CHROMATOGRAPHY A

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

Calcium-sensing beyond neurotransmitters: functions of synaptotagmins in neuroendocrine and endocrine secretion

(2009) Natalia Gustavsson et al.   BIOSCIENCE REPORTS

Cullin Mediates Degradation of RhoA through Evolutionarily Conserved BTB Adaptors to Control Actin Cytoskeleton Structure and Cell Movement

(2009) Yuezhou Chen et al.   MOLECULAR CELL

Coincident exposure of phosphatidylethanolamine and anionic phospholipids on the surface of irradiated cells

(2008) Andrei Marconescu et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Kid-Mediated Chromosome Compaction Ensures Proper Nuclear Envelope Formation

(2008) Miho Ohsugi et al.   CELL

RPLC-Ion-Trap-FTMS Method for Lipid Profiling of Plasma: Method Validation and Application to p53 Mutant Mouse Model

(2008) Chunxiu Hu et al.   JOURNAL OF PROTEOME RESEARCH

Synaptotagmin-1 and -7 are functionally overlapping Ca2+ sensors for exocytosis in adrenal chromaffin cells

(2008) J.-S. Schonn et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA