Sarah J. Spence
Boston Children's Hospital
44 Papers
49 Citations
Sarah J. Spence is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Autism & Autism spectrum disorder. The author has an hindex of 32, co-authored 42 publications. Previous affiliations of Sarah J. Spence include York University & Center for Autism and Related Disorders.
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Papers
Strong Association of De Novo Copy Number Mutations with Autism
Jonathan Sebat,B. Lakshmi,Dheeraj Malhotra,Jennifer Troge,Christa Lese-Martin,Tom Walsh,Boris Yamrom,Seungtai Yoon,Alexander Krasnitz,Jude Kendall,Anthony Leotta,Deepa Pai,Ray Zhang,Yoon-ha Lee,James W. Hicks,Sarah J. Spence,Annette Lee,Kaija Puura,Terho Lehtimäki,David H. Ledbetter,Peter K. Gregersen,Joel D. Bregman,James S. Sutcliffe,Vaidehi Jobanputra,Wendy K. Chung,Dorothy Warburton,Mary Claire King,David Skuse,Daniel H. Geschwind,T. Conrad Gilliam,Kenny Ye,Michael Wigler +31 more
TL;DR: Findings establish de novo germline mutation as a more significant risk factor for ASD than previously recognized.
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Peter Szatmari,Andrew D. Paterson,Lonnie Zwaigenbaum,Wendy Roberts,Jessica Brian,Xiao-Qing Liu,John B. Vincent,Jennifer Skaug,Ann P. Thompson,Lili Senman,Lars Feuk,Cheng Qian,Susan E. Bryson,Marshall B. Jones,Christian R. Marshall,Stephen W. Scherer,Veronica J. Vieland,Christopher W. Bartlett,La Vonne Mangin,Rhinda Goedken,Alberto M. Segre,Margaret A. Pericak-Vance,Michael L. Cuccaro,John R. Gilbert,Harry H. Wright,Ruth K. Abramson,Catalina Betancur,Thomas Bourgeron,Christopher Gillberg,Marion Leboyer,Joseph D. Buxbaum,Kenneth L. Davis,Eric Hollander,Jeremy M. Silverman,Joachim Hallmayer,Linda Lotspeich,James S. Sutcliffe,Jonathan L. Haines,Susan E. Folstein,Joseph Piven,Thomas H. Wassink,Val C. Sheffield,Daniel H. Geschwind,Maja Bucan,W. Ted Brown,Rita M. Cantor,John N. Constantino,T. Conrad Gilliam,Martha R. Herbert,Clara Lajonchere,David H. Ledbetter,Christa Lese-Martin,Janet Miller,Stan F. Nelson,Carol A. Samango-Sprouse,Sarah J. Spence,Matthew W. State,Rudolph E. Tanzi,Hilary Coon,Geraldine Dawson,Bernie Devlin,Annette Estes,Pamela Flodman,Lambertus Klei,William M. McMahon,Nancy J. Minshew,Jeff Munson,Elena Korvatska,Elena Korvatska,Patricia M. Rodier,Gerard D. Schellenberg,Gerard D. Schellenberg,Moyra Smith,M. Anne Spence,Christopher J. Stodgell,Ping Guo Tepper,Ellen M. Wijsman,Chang En Yu,Chang En Yu,Bernadette Rogé,Carine Mantoulan,Kerstin Wittemeyer,Annemarie Poustka,Bärbel Felder,Sabine M. Klauck,Claudia Schuster,Fritz Poustka,Sven Bölte,Sabine Feineis-Matthews,Evelyn Herbrecht,Gabi Schmötzer,John Tsiantis,Katerina Papanikolaou,Elena Maestrini,Elena Bacchelli,Francesca Blasi,Simona Carone,Claudio Toma,Herman van Engeland,Maretha de Jonge,Chantal Kemner,Frederike Koop,Marjolijn Langemeijer,Channa Hijimans,Wouter G. Staal,Gillian Baird,Patrick Bolton,Michael Rutter,Emma Weisblatt,Jonathan Green,Catherine Aldred,Julie Anne Wilkinson,Andrew Pickles,Ann Le Couteur,Tom Berney,Helen McConachie,Anthony J. Bailey,Kostas Francis,Gemma Honeyman,Aislinn Hutchinson,Jeremy R. Parr,Simon Wallace,Anthony P. Monaco,Gabrielle Barnby,Kazuhiro Kobayashi,Janine A. Lamb,Inês Sousa,Nuala Sykes,Edwin H. Cook,Stephen J. Guter,Bennett L. Leventhal,Jeff Salt,Catherine Lord,Christina Corsello,Vanessa Hus,Daniel E. Weeks,Fred R. Volkmar,Maïté Tauber,Eric Fombonne,Andy Shih +139 more
TL;DR: Linkage and copy number variation analyses implicate chromosome 11p12–p13 and neurexins, respectively, among other candidate loci, highlighting glutamate-related genes as promising candidates for contributing to ASDs.
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Ryan K. C. Yuen,Daniele Merico,Matt Bookman,Jennifer L. Howe,Bhooma Thiruvahindrapuram,Rohan V. Patel,Joe Whitney,Nicole A. Deflaux,Jonathan Bingham,Zhuozhi Wang,Giovanna Pellecchia,Janet A. Buchanan,Susan Walker,Christian R. Marshall,Mohammed Uddin,Mehdi Zarrei,Eric Deneault,Lia D’Abate,Lia D’Abate,Ada J.S. Chan,Ada J.S. Chan,Stephanie Koyanagi,Tara Paton,Sergio L. Pereira,Ny Hoang,Worrawat Engchuan,Edward J Higginbotham,Karen Ho,Sylvia Lamoureux,Weili Li,Jeffrey R. MacDonald,Thomas Nalpathamkalam,Wilson W L Sung,Fiona Tsoi,John Wei,Lizhen Xu,Anne Marie Tassé,Emily Kirby,William Van Etten,Simon N. Twigger,Wendy Roberts,Irene Drmic,Sanne Jilderda,Bonnie Mackinnon Modi,Barbara Kellam,Michael J. Szego,Michael J. Szego,Cheryl Cytrynbaum,Rosanna Weksberg,Lonnie Zwaigenbaum,Marc Woodbury-Smith,Marc Woodbury-Smith,Jessica Brian,Lili Senman,Alana Iaboni,Krissy A.R. Doyle-Thomas,Ann Thompson,Christina Chrysler,Jonathan Leef,Tal Savion-Lemieux,Isabel M. Smith,Xudong Liu,Rob Nicolson,Vicki Seifer,Angie Fedele,Edwin H. Cook,Stephen R. Dager,Annette Estes,Louise Gallagher,Beth A. Malow,Jeremy R. Parr,Sarah J. Spence,Jacob A. S. Vorstman,Brendan J. Frey,James T. Robinson,Lisa J. Strug,Lisa J. Strug,Bridget A. Fernandez,Mayada Elsabbagh,Melissa T. Carter,Joachim Hallmayer,Bartha Maria Knoppers,Evdokia Anagnostou,Peter Szatmari,Peter Szatmari,Robert H. Ring,David Glazer,Mathew T. Pletcher,Stephen W. Scherer,Stephen W. Scherer +89 more
TL;DR: Se sequencing of 5,205 samples from families with ASD, accompanied by clinical information, creating a database accessible on a cloud platform and through a controlled-access internet portal that identified 18 new candidate ASD-risk genes and found that participants bearing mutations in susceptibility genes had significantly lower adaptive ability.
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The Co-Morbidity Burden of Children and Young Adults with Autism Spectrum Disorders
Isaac S. Kohane,Isaac S. Kohane,Isaac S. Kohane,Andrew J. McMurry,Andrew J. McMurry,Griffin M. Weber,Griffin M. Weber,Douglas MacFadden,Leonard Rappaport,Louis M. Kunkel,Jonathan Bickel,Nich Wattanasin,Sarah J. Spence,Shawn N. Murphy,Shawn N. Murphy,Shawn N. Murphy,Susanne Churchill +16 more
TL;DR: The comorbidities of ASD encompass disease states that are significantly overrepresented in ASD with respect to even the patient populations of tertiary health centers and requires broad multidisciplinary management that payors and providers will have to plan for.
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
Flore Zufferey,Elliott H. Sherr,Noam D. Beckmann,Ellen Hanson,Anne M. Maillard,Loyse Hippolyte,Aurélien Macé,Carina Ferrari,Zoltán Kutalik,Joris Andrieux,Elizabeth Aylward,Mandy Barker,Raphael Bernier,Sonia Bouquillon,Philippe Conus,Bruno Delobel,W. Andrew Faucett,Robin P. Goin-Kochel,Ellen Grant,Louise Harewood,Jill V. Hunter,Sébastien Lebon,David H. Ledbetter,Christa Lese Martin,Katrin Männik,Danielle Martinet,Pratik Mukherjee,Melissa B. Ramocki,Sarah J. Spence,Kyle J. Steinman,Jennifer Tjernage,John E. Spiro,Alexandre Reymond,Jacques S. Beckmann,Wendy K. Chung,Sébastien Jacquemont,Marie-Claude Addor,Benoit Arveiler,Marco Belfiore,Frédérique Béna,Laura Bernardini,Patricia Blanchet,Dominique Bonneau,Odile Boute,Patrick Callier,Dominique Campion,Jean Chiesa,Marie Pierre Cordier,Jean Marie Cuisset,Albert David,Nicole de Leeuw,Bert B.A. de Vries,Gérard Didelot,Martine Doco-Fenzy,Bénédicte Duban Bedu,Christèle Dubourg,Sophie Dupuis-Girod,Christina Fagerberg,Laurence Faivre,Florence Fellmann,Bridget A. Fernandez,Richard I. Fisher,Elisabeth Flori,Alice Goldenberg,Delphine Héron,Muriel Holder,Juliane Hoyer,Bertrand Isidor,Sylvie Jaillard,Philippe Jonveaux,Sylvie Joriot,Hubert Journel,R. Frank Kooy,Cédric Le Caignec,Bruno Leheup,Marie Pierre Lemaitre,Suzanne M E Lewis,Valérie Malan,Michèle Mathieu-Dramard,Andres Metspalu,Fanny Morice-Picard,Mafalda Mucciolo,Eve Õiglane-Shlik,Katrin Õunap,Laurent Pasquier,Florence Petit,Anne Philippe,Ghislaine Plessis,Fabienne Prieur,Jacques Puechberty,Evica Rajcan-Separovic,Anita Rauch,Alessandra Renieri,Claudine Rieubland,Caroline Rooryck,Katharina Magdalena Rötzer,Mariken Ruiter,Damien Sanlaville,Stéphanie Selmoni,Yiping Shen,Vanessa Siffredi,Jacques Thonney,Louis Vallée,Ellen van Binsbergen,Nathalie Van der Aa,Mieke M. van Haelst,Jacqueline Vigneron,Catherine Vincent-Delorme,Disciglio Vittoria,Anneke T. Vulto-van Silfhout,Robert M. Witwicki,Simon A. Zwolinski,Alexandra Bowe,Arthur L. Beaudet,Christie M. Brewton,Zili Chu,Allison G. Dempsey,Yolanda L. Evans,Silvia Garza,Stephen M. Kanne,Anna L. Laakman,Morgan W. Lasala,Ashlie Llorens,Gabriela Marzano,Timothy J. Moss,Kerri P. Nowell,Monica Proud,Qixuan Chen,Roger Vaughan,Jeffrey I. Berman,Lisa Blaskey,Katherine Hines,Sudha Kilaru Kessler,Sarah Y. Khan,Saba Qasmieh,Audrey Lynn Bibb,Andrea M. Paal,Patricia Z. Page,Bethanny Smith-Packard,Randy L. Buckner,Jordan Burko,Alyss Lian Cavanagh,Bettina Cerban,Anne V. Snow,Lee Anne Green Snyder,Rebecca Mc Nally Keehn,David T. Miller,Fiona Miller,Jennifer Olson,Christina Triantafallou,Nicole Visyak,Constance Atwell,Marta Benedetti,Gerald D. Fischbach,Marion Greenup,Alan Packer,Polina Bukshpun,Maxwell Cheong,Corby L. Dale,Sarah E. Gobuty,Leighton B. Hinkley,Rita J. Jeremy,Hana Lee,Tracy Luks,Elysa J. Marco,Alastair J. Martin,Kathleen E. McGovern,Srikantan S. Nagarajan,Julia P. Owen,Brianna M. Paul,Nicholas J. Pojman,Tuhin K. Sinha,Vivek Swarnakar,Mari Wakahiro,Hanalore Alupay,Benjamin Aaronson,Sean Ackerman,Katy Ankenman,Jenna Elgin,Jennifer Gerdts,Kelly Johnson,Beau Reilly,Dennis Shaw,Arianne Stevens,Tracey Ward,Julia Wenegrat,Timothy P.L. Roberts +186 more
TL;DR: The 16p11.2 deletion impacts in a quantitative and independent manner FSIQ, behaviour and body mass index, possibly through direct influences on neural circuitry, and these features are clinically significant and reproducible.
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