M
Matthew R. Stone
Researcher at Harvard University
Publications - 13
Citations - 1478
Matthew R. Stone is an academic researcher from Harvard University. The author has contributed to research in topics: Structural variation & Genome. The author has an hindex of 11, co-authored 13 publications receiving 1003 citations. Previous affiliations of Matthew R. Stone include Broad Institute & Massachusetts Institute of Technology.
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Journal ArticleDOI
A structural variation reference for medical and population genetics
Ryan L. Collins,Ryan L. Collins,Harrison Brand,Harrison Brand,Konrad J. Karczewski,Konrad J. Karczewski,Xuefang Zhao,Xuefang Zhao,Jessica Alföldi,Jessica Alföldi,Laurent C. Francioli,Laurent C. Francioli,Amit Khera,Amit Khera,Chelsea Lowther,Chelsea Lowther,Laura D. Gauthier,Harold Z. Wang,Harold Z. Wang,Nicholas A. Watts,Nicholas A. Watts,Matthew Solomonson,Matthew Solomonson,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Alexander Baumann,Ruchi Munshi,Mark Walker,Christopher W. Whelan,Yongqing Huang,Ted Brookings,Ted Sharpe,Matthew R. Stone,Matthew R. Stone,Elise Valkanas,Elise Valkanas,Jack Fu,Jack Fu,Grace Tiao,Grace Tiao,Kristen M. Laricchia,Kristen M. Laricchia,Valentin Ruano-Rubio,Christine Stevens,Namrata Gupta,Caroline N. Cusick,Lauren Margolin,Genome Aggregation Database Production Team,Kent D. Taylor,Henry J. Lin,Stephen S. Rich,Wendy S. Post,Yii-Der Ida Chen,Jerome I. Rotter,Chad Nusbaum,Anthony A. Philippakis,Eric S. Lander,Eric S. Lander,Eric S. Lander,Stacey Gabriel,Benjamin M. Neale,Sekar Kathiresan,Mark J. Daly,Eric Banks,Daniel G. MacArthur,Michael E. Talkowski +65 more
TL;DR: A large empirical assessment of sequence-resolved structural variants from 14,891 genomes across diverse global populations in the Genome Aggregation Database (gnomAD) provides a reference map for disease-association studies, population genetics, and diagnostic screening.
Journal ArticleDOI
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Claire Redin,Claire Redin,Harrison Brand,Harrison Brand,Ryan L. Collins,Ryan L. Collins,Tammy Kammin,Elyse Mitchell,Jennelle C. Hodge,Jennelle C. Hodge,Jennelle C. Hodge,Carrie Hanscom,Carrie Hanscom,Vamsee Pillalamarri,Vamsee Pillalamarri,Catarina M. Seabra,Catarina M. Seabra,Catarina M. Seabra,Mary-Alice Abbott,Omar A. Abdul-Rahman,Erika Aberg,Rhett Adley,Sofia L. Alcaraz-Estrada,Fowzan S. Alkuraya,Yu An,Yu An,Mary-Anne Anderson,Caroline Antolik,Caroline Antolik,Kwame Anyane-Yeboa,Joan F. Atkin,Joan F. Atkin,Tina M. Bartell,Jonathan A. Bernstein,Elizabeth Beyer,Elizabeth Beyer,Ian Blumenthal,Ernie M.H.F. Bongers,Eva H. Brilstra,Chester W. Brown,Chester W. Brown,Hennie T. Brüggenwirth,Bert Callewaert,Colby Chiang,Ken Corning,Helen Cox,Edwin Cuppen,Benjamin Currall,Tom Cushing,Dezso David,Matthew A. Deardorff,Annelies Dheedene,Marc D'Hooghe,Bert B.A. de Vries,Dawn L. Earl,Heather L. Ferguson,Heather Fisher,David R. FitzPatrick,Pamela Gerrol,Daniela Giachino,Joseph T. Glessner,Joseph T. Glessner,Troy J. Gliem,Margo Grady,Brett H. Graham,Cristin Griffis,Cristin Griffis,Karen W. Gripp,Andrea L. Gropman,Andrea Hanson-Kahn,David J. Harris,Mark A. Hayden,Rosamund Hill,Ron Hochstenbach,Jodi D. Hoffman,Robert J. Hopkin,Robert J. Hopkin,Monika Weisz Hubshman,Monika Weisz Hubshman,A. Micheil Innes,Mira Irons,Melita Irving,Jessie C. Jacobsen,Sandra Janssens,Tamison Jewett,John P. Johnson,Marjolijn C.J. Jongmans,Stephen G. Kahler,David A. Koolen,Jerome Korzelius,Peter M. Kroisel,Yves Lacassie,William Lawless,Emmanuelle Lemyre,Kathleen A. Leppig,Kathleen A. Leppig,Alex V. Levin,Haibo Li,Hong Li,Eric C. Liao,Cynthia Lim,Edward J. Lose,Diane Lucente,Michael J. Macera,Poornima Manavalan,Giorgia Mandrile,Carlo Marcelis,Lauren Margolin,Tamara Mason,Diane Masser-Frye,Michael W. McClellan,Cinthya J Zepeda Mendoza,Björn Menten,Sjors Middelkamp,Liya R Mikami,Emily Moe,Emily Moe,Shehla Mohammed,Tarja Mononen,Megan Mortenson,Megan Mortenson,Graciela Moya,Aggie W. M. Nieuwint,Zehra Ordulu,Sandhya Parkash,Sandhya Parkash,Susan P. Pauker,Shahrin Pereira,Danielle Perrin,Katy Phelan,Raul Eduardo Pina Aguilar,Pino J. Poddighe,Giulia Pregno,Salmo Raskin,Linda M. Reis,Linda M. Reis,William J. Rhead,William J. Rhead,Debra Rita,Ivo Renkens,Filip Roelens,Jayla Ruliera,Patrick Rump,Samantha L.P. Schilit,Ranad Shaheen,Rebecca Sparkes,Erica Spiegel,Blair Stevens,Matthew R. Stone,Matthew R. Stone,Julia Tagoe,Joseph V. Thakuria,Bregje W.M. van Bon,Jiddeke M. van de Kamp,Ineke van der Burgt,Ton van Essen,Conny M. A. van Ravenswaaij-Arts,Markus J. van Roosmalen,Sarah Vergult,Catharina M L Volker-Touw,Dorothy Warburton,Matthew J. Waterman,Matthew J. Waterman,Susan Wiley,Anna Wilson,Maria de la Concepcion A Yerena-de Vega,Roberto T. Zori,Brynn Levy,Han G. Brunner,Han G. Brunner,Nicole de Leeuw,Wigard P. Kloosterman,Erik C. Thorland,Cynthia C. Morton,Cynthia C. Morton,Cynthia C. Morton,James F. Gusella,James F. Gusella,Michael E. Talkowski,Michael E. Talkowski +179 more
TL;DR: It is proposed that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements and provides insight into new pathogenic mechanisms, such as altered regulation due to changes in chromosome topology.
Journal ArticleDOI
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.
Donna M. Werling,Harrison Brand,Harrison Brand,Joon Yong An,Matthew R. Stone,Lingxue Zhu,Joseph T. Glessner,Joseph T. Glessner,Ryan L. Collins,Shan Dong,Ryan M. Layer,Eirene Markenscoff-Papadimitriou,Andrew Farrell,Grace Schwartz,Harold Z. Wang,Benjamin Currall,Benjamin Currall,Xuefang Zhao,Xuefang Zhao,Jeanselle Dea,Clif Duhn,Carolyn A. Erdman,Michael C. Gilson,Rachita Yadav,Rachita Yadav,Robert E. Handsaker,Robert E. Handsaker,Seva Kashin,Seva Kashin,Lambertus Klei,Jeffrey D. Mandell,Tomasz J. Nowakowski,Yuwen Liu,Sirisha Pochareddy,Louw Smith,Michael F. Walker,Matthew J. Waterman,Xin He,Arnold R. Kriegstein,John L.R. Rubenstein,Nenad Sestan,Steven A. McCarroll,Steven A. McCarroll,Benjamin M. Neale,Benjamin M. Neale,Hilary Coon,A. Jeremy Willsey,Joseph D. Buxbaum,Mark J. Daly,Mark J. Daly,Matthew W. State,Aaron R. Quinlan,Gabor T. Marth,Kathryn Roeder,Bernie Devlin,Michael E. Talkowski,Stephen Sanders +56 more
TL;DR: Analyses of 519 autism spectrum disorder families did not identify association with any categories after correction for 4,123 effective tests, and the work suggests that robust results from WGS studies will require large cohorts and strategies that consider the substantial multiple-testing burden.
Journal ArticleDOI
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.
Ryan L. Collins,Ryan L. Collins,Harrison Brand,Harrison Brand,Claire Redin,Claire Redin,Carrie Hanscom,Carrie Hanscom,Caroline Antolik,Caroline Antolik,Matthew R. Stone,Matthew R. Stone,Joseph T. Glessner,Joseph T. Glessner,Tamara Mason,Giulia Pregno,Naghmeh Dorrani,Giorgia Mandrile,Daniela Giachino,Danielle Perrin,Cole Walsh,Michelle Cipicchio,Maura Costello,Alexei Stortchevoi,Alexei Stortchevoi,Joon Yong An,Benjamin Currall,Benjamin Currall,Catarina M. Seabra,Catarina M. Seabra,Catarina M. Seabra,Ashok Ragavendran,Ashok Ragavendran,Lauren Margolin,Julian A. Martinez-Agosto,Diane Lucente,Brynn Levy,Stephen Sanders,Ronald J. Wapner,Fabiola Quintero-Rivera,Wigard P. Kloosterman,Michael E. Talkowski,Michael E. Talkowski +42 more
TL;DR: A genome-wide map of large SV is constructed and 16 recurrent subclasses of complex SV (cxSV) are characterized, revealing that cxSV are larger and rarer than canonical SV and should be considered in genomic studies of human disease.
Journal ArticleDOI
Mutations in DCHS1 cause mitral valve prolapse
Ronen Durst,Ronen Durst,Kimberly Sauls,David S. Peal,Annemarieke DeVlaming,Katelynn Toomer,Maire Leyne,Monica Salani,Michael E. Talkowski,Harrison Brand,Maelle Perrocheau,Charles Simpson,Christopher Jett,Matthew R. Stone,Florie A. Charles,Colby Chiang,Stacey N. Lynch,Nabila Bouatia-Naji,Nabila Bouatia-Naji,Francesca N. Delling,Lisa A. Freed,Christophe Tribouilloy,Thierry Le Tourneau,Herve LeMarec,Leticia Fernández-Friera,Jorge Solis,Daniel Trujillano,Stephan Ossowski,Xavier Estivill,Christian Dina,Patrick Bruneval,Adrian H. Chester,Jean-Jacques Schott,Kenneth D. Irvine,Yaopan Mao,Andy Wessels,Tahirali Motiwala,Michel Pucéat,Yoshikazu Tsukasaki,Donald R. Menick,Harinath Kasiganesan,Xingju Nie,Ann-Marie Broome,Katherine Williams,Amanda J. Johnson,Roger R. Markwald,Xavier Jeunemaitre,Xavier Jeunemaitre,Xavier Jeunemaitre,Albert Hagège,Albert Hagège,Robert A. Levine,Robert A. Levine,David J. Milan,Russell A. Norris,Susan A. Slaugenhaupt +55 more
TL;DR: A missense mutation in the DCHS1 gene, the human homologue of the Drosophila cell polarity gene dachsous (ds), that segregates with MVP in the family is reported, supporting these processes as aetiological underpinnings for the disease.