N
Nicholas G. Campbell
Researcher at Vanderbilt University
Publications - 16
Citations - 4642
Nicholas G. Campbell is an academic researcher from Vanderbilt University. The author has contributed to research in topics: Dopamine transporter & Exome. The author has an hindex of 14, co-authored 16 publications receiving 4041 citations. Previous affiliations of Nicholas G. Campbell include Rush University Medical Center & University of Cincinnati Academic Health Center.
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Journal ArticleDOI
Synaptic, transcriptional and chromatin genes disrupted in autism
Silvia De Rubeis,Xin-Xin He,Arthur P. Goldberg,Christopher S. Poultney,Kaitlin E. Samocha,A. Ercument Cicek,Yan Kou,Li Liu,Menachem Fromer,Menachem Fromer,R. Susan Walker,Tarjinder Singh,Lambertus Klei,Jack A. Kosmicki,Shih-Chen Fu,Branko Aleksic,Monica Biscaldi,Patrick Bolton,Jessica M. Brownfeld,Jinlu Cai,Nicholas G. Campbell,Angel Carracedo,Angel Carracedo,Maria H. Chahrour,Andreas G. Chiocchetti,Hilary Coon,Emily L. Crawford,Lucy Crooks,Sarah Curran,Geraldine Dawson,Eftichia Duketis,Bridget A. Fernandez,Louise Gallagher,Evan T. Geller,Stephen J. Guter,R. Sean Hill,R. Sean Hill,Iuliana Ionita-Laza,Patricia Jiménez González,Helena Kilpinen,Sabine M. Klauck,Alexander Kolevzon,Irene Lee,Jing Lei,Terho Lehtimäki,Chiao-Feng Lin,Avi Ma'ayan,Christian R. Marshall,Alison L. McInnes,Benjamin M. Neale,Michael John Owen,Norio Ozaki,Mara Parellada,Jeremy R. Parr,Shaun Purcell,Kaija Puura,Deepthi Rajagopalan,Karola Rehnström,Abraham Reichenberg,Aniko Sabo,Michael Sachse,Stephen Sanders,Chad M. Schafer,Martin Schulte-Rüther,David Skuse,David Skuse,Christine Stevens,Peter Szatmari,Kristiina Tammimies,Otto Valladares,Annette Voran,Li-San Wang,Lauren A. Weiss,A. Jeremy Willsey,Timothy W. Yu,Timothy W. Yu,Ryan K. C. Yuen,Edwin H. Cook,Christine M. Freitag,Michael Gill,Christina M. Hultman,Thomas Lehner,Aarno Palotie,Aarno Palotie,Aarno Palotie,Gerard D. Schellenberg,Pamela Sklar,Matthew W. State,James S. Sutcliffe,Christopher A. Walsh,Christopher A. Walsh,Stephen W. Scherer,Michael E. Zwick,Jeffrey C. Barrett,David J. Cutler,Kathryn Roeder,Bernie Devlin,Mark J. Daly,Mark J. Daly,Joseph D. Buxbaum +99 more
TL;DR: Using exome sequencing, it is shown that analysis of rare coding variation in 3,871 autism cases and 9,937 ancestry-matched or parental controls implicates 22 autosomal genes at a false discovery rate of < 0.05, plus a set of 107 genes strongly enriched for those likely to affect risk (FDR < 0.30).
Journal ArticleDOI
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Benjamin M. Neale,Yan Kou,Li Liu,Avi Ma'ayan,Kaitlin E. Samocha,Kaitlin E. Samocha,Aniko Sabo,Chiao-Feng Lin,Christine Stevens,Li-San Wang,Vladimir Makarov,Paz Polak,Paz Polak,Seungtai Yoon,Jared Maguire,Emily L. Crawford,Nicholas G. Campbell,Evan T. Geller,Otto Valladares,Chad M. Schafer,Han Liu,Tuo Zhao,Guiqing Cai,Jayon Lihm,Ruth Dannenfelser,Omar Jabado,Zuleyma Peralta,Uma Nagaswamy,Donna M. Muzny,Jeffrey G. Reid,Irene Newsham,Yuanqing Wu,Lora Lewis,Yi Han,Benjamin F. Voight,Benjamin F. Voight,Elaine T. Lim,Elaine T. Lim,Elizabeth J. Rossin,Elizabeth J. Rossin,Andrew Kirby,Andrew Kirby,Jason Flannick,Menachem Fromer,Menachem Fromer,Khalid Shakir,Timothy Fennell,Kiran V. Garimella,Eric Banks,Ryan Poplin,Stacey Gabriel,Mark A. DePristo,Jack R. Wimbish,Braden E. Boone,Shawn Levy,Catalina Betancur,Shamil R. Sunyaev,Shamil R. Sunyaev,Eric Boerwinkle,Eric Boerwinkle,Joseph D. Buxbaum,Edwin H. Cook,Bernie Devlin,Richard A. Gibbs,Kathryn Roeder,Gerard D. Schellenberg,James S. Sutcliffe,Mark J. Daly,Mark J. Daly +68 more
TL;DR: Results from de novo events and a large parallel case–control study provide strong evidence in favour of CHD8 and KATNAL2 as genuine autism risk factors and support polygenic models in which spontaneous coding mutations in any of a large number of genes increases risk by 5- to 20-fold.
Journal ArticleDOI
De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder
Peter J. Hamilton,Nicholas G. Campbell,Shruti Sharma,Kevin Erreger,Herborg Hansen F,Christine Saunders,Andrea N Belovich,Michelle A. Sahai,Edwin H. Cook,Ulrik Gether,Hassane S. Mchaourab,Heinrich J.G. Matthies,James S. Sutcliffe,Aurelio Galli +13 more
TL;DR: It is demonstrated that alterations in DA homeostasis, mediated by aberrant DAT function, may confer risk for ASD and related neuropsychiatric conditions.
Journal ArticleDOI
SLC6A3 coding variant Ala559Val found in two autism probands alters dopamine transporter function and trafficking.
Erica Bowton,Christine Saunders,India A. Reddy,Nicholas G. Campbell,Peter J. Hamilton,L. K. Henry,Hilary Coon,Dhananjay Sakrikar,Jeremy Veenstra-VanderWeele,Randy D. Blakely,James S. Sutcliffe,Heinrich J.G. Matthies,Kevin Erreger,Aurelio Galli +13 more
TL;DR: It is shown that hDAT A559V is resistant to AMPH-induced cell surface redistribution and conferred by altered protein kinase C β (PKCβ) activity, providing valuable insight into a new cellular phenotype supporting dysregulated DA function in these disorders.
Journal ArticleDOI
Rare Autism-Associated Variants Implicate Syntaxin 1 (STX1 R26Q) Phosphorylation and the Dopamine Transporter (hDAT R51W) in Dopamine Neurotransmission and Behaviors
Etienne Cartier,Peter J. Hamilton,Andrea N Belovich,Aparna Shekar,Nicholas G. Campbell,Christine Saunders,Thorvald F. Andreassen,Ulrik Gether,Jeremy Veenstra-VanderWeele,James S. Sutcliffe,Paula G. Ulery-Reynolds,Kevin Erreger,Heinrich J.G. Matthies,Aurelio Galli +13 more
TL;DR: Two independent autism-associated variants in the genes that encode STX1 and the DAT are characterized and it is demonstrated that each variant dramatically alters DAT function.