I
Ian Blumenthal
Researcher at Harvard University
Publications - 18
Citations - 2207
Ian Blumenthal is an academic researcher from Harvard University. The author has contributed to research in topics: Gene & Gene rearrangement. The author has an hindex of 16, co-authored 18 publications receiving 1903 citations. Previous affiliations of Ian Blumenthal include VA Boston Healthcare System.
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Journal ArticleDOI
Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries
Michael E. Talkowski,Jill A. Rosenfeld,Ian Blumenthal,Vamsee Pillalamarri,Colby Chiang,Adrian Heilbut,Carl Ernst,Carrie Hanscom,Elizabeth J. Rossin,Elizabeth J. Rossin,Amelia M. Lindgren,Shahrin Pereira,Douglas M. Ruderfer,Douglas M. Ruderfer,Andrew Kirby,Andrew Kirby,Stephan Ripke,Stephan Ripke,David J. Harris,Ji Hyun Lee,Kyungsoo Ha,Hyung Goo Kim,Benjamin D. Solomon,Andrea L. Gropman,Andrea L. Gropman,Diane Lucente,Katherine B. Sims,Toshiro K. Ohsumi,Mark L. Borowsky,Stephanie Loranger,Bradley J. Quade,Kasper Lage,Judith H. Miles,Bai-Lin Wu,Bai-Lin Wu,Bai-Lin Wu,Yiping Shen,Benjamin M. Neale,Benjamin M. Neale,Lisa G. Shaffer,Mark J. Daly,Cynthia C. Morton,Cynthia C. Morton,Cynthia C. Morton,James F. Gusella +44 more
TL;DR: The findings suggest a polygenic risk model of autism and reveal that some neurodevelopmental genes are sensitive to perturbation by multiple mutational mechanisms, leading to variable phenotypic outcomes that manifest at different life stages.
Journal ArticleDOI
CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.
Aarathi Sugathan,Marta Biagioli,Christelle Golzio,Serkan Erdin,Ian Blumenthal,Poornima Manavalan,Ashok Ragavendran,Harrison Brand,Diane Lucente,Judith H. Miles,Steven D. Sheridan,Alexei Stortchevoi,Manolis Kellis,Stephen J. Haggarty,Nicholas Katsanis,James F. Gusella,Michael E. Talkowski +16 more
TL;DR: It is shown that reduced expression of CHD8 impacts a variety of other functionally distinct ASD-associated genes, suggesting that the diverse functions of ASD risk factors may constitute multiple means of triggering a smaller number of final common pathways.
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
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration
Colby Chiang,Jessie C Jacobsen,Carl Ernst,Carrie Hanscom,Adrian Heilbut,Ian Blumenthal,Ryan E. Mills,Andrew Kirby,Andrew Kirby,Amelia M. Lindgren,Skye R. Rudiger,Clive J. McLaughlan,C. Simon Bawden,Suzanne J. Reid,Richard L.M. Faull,Russell G. Snell,Ira M. Hall,Yiping Shen,Yiping Shen,Toshiro K. Ohsumi,Mark L. Borowsky,Mark J. Daly,Mark J. Daly,Charles Lee,Cynthia C. Morton,Cynthia C. Morton,Marcy E. MacDonald,James F. Gusella,Michael E. Talkowski +28 more
TL;DR: This paper defined the genetic landscape of balanced chromosomal rearrangements at nucleotide resolution by sequencing 141 breakpoints from cytogenetically interpreted translocations and inversions and compared these results to experimentally generated DNA breakage-repair by sequencing seven transgenic animals.
Journal ArticleDOI
Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample
Michael E. Talkowski,Zehra Ordulu,Vamsee Pillalamarri,Carol B. Benson,Ian Blumenthal,Susan A. Connolly,Carrie Hanscom,Naveed Hussain,Shahrin Pereira,Jonathan Picker,Jill A. Rosenfeld,Lisa G. Shaffer,Louise Wilkins-Haug,James F. Gusella,Cynthia C. Morton +14 more
TL;DR: It is shown here that whole-genome "jumping libraries" can offer an immediately applicable, nucleotide-level complement to conventional genetic diagnostics within a time frame that allows for clinical action.