J
Jamie L. Marshall
Researcher at Broad Institute
Publications - 48
Citations - 4218
Jamie L. Marshall is an academic researcher from Broad Institute. The author has contributed to research in topics: Muscular dystrophy & Duchenne muscular dystrophy. The author has an hindex of 20, co-authored 42 publications receiving 2264 citations. Previous affiliations of Jamie L. Marshall include University of California, Los Angeles & Boston Children's Hospital.
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Journal ArticleDOI
Landscape of X chromosome inactivation across human tissues
Taru Tukiainen,Taru Tukiainen,Alexandra-Chloé Villani,Alexandra-Chloé Villani,Angela Yen,Angela Yen,Manuel A. Rivas,Manuel A. Rivas,Manuel A. Rivas,Jamie L. Marshall,Jamie L. Marshall,Rahul Satija,Rahul Satija,Matthew Aguirre,Matthew Aguirre,Laura D. Gauthier,Laura D. Gauthier,Mark Fleharty,Andrew Kirby,Andrew Kirby,Beryl B. Cummings,Beryl B. Cummings,Stephane E. Castel,Konrad J. Karczewski,Konrad J. Karczewski,François Aguet,Andrea Byrnes,Andrea Byrnes,Tuuli Lappalainen,Aviv Regev,Aviv Regev,Kristin G. Ardlie,Nir Hacohen,Nir Hacohen,Daniel G. MacArthur,Daniel G. MacArthur +35 more
TL;DR: It is shown that incomplete XCI affects at least 23% of X-chromosomal genes, identified seven genes that escape XCI with support from multiple lines of evidence and demonstrated that escape from XCI results in sex biases in gene expression, establishing incomplete X CI as a mechanism that is likely to introduce phenotypic diversity.
Journal ArticleDOI
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Beryl B. Cummings,Beryl B. Cummings,Jamie L. Marshall,Jamie L. Marshall,Taru Tukiainen,Taru Tukiainen,Monkol Lek,Sandra Donkervoort,A. Reghan Foley,Véronique Bolduc,Leigh B. Waddell,Leigh B. Waddell,Sarah A. Sandaradura,Sarah A. Sandaradura,Gina L. O’Grady,Gina L. O’Grady,Elicia Estrella,Hemakumar M. Reddy,Fengmei Zhao,Fengmei Zhao,Ben Weisburd,Ben Weisburd,Konrad J. Karczewski,Konrad J. Karczewski,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Daniel P. Birnbaum,Daniel P. Birnbaum,Anna Sarkozy,Ying Hu,Hernan Gonorazky,Kristl G. Claeys,Himanshu Joshi,Adam Bournazos,Adam Bournazos,Emily C. Oates,Emily C. Oates,Roula Ghaoui,Roula Ghaoui,Mark R. Davis,Nigel G. Laing,Ana Töpf,Peter B. Kang,Peter B. Kang,Alan H. Beggs,Kathryn N. North,Volker Straub,James J. Dowling,Francesco Muntoni,Nigel F. Clarke,Nigel F. Clarke,Sandra T. Cooper,Sandra T. Cooper,Carsten G. Bönnemann,Daniel G. MacArthur,Daniel G. MacArthur +55 more
TL;DR: This study represents a large systematic application of transcriptome sequencing to rare disease diagnosis and highlights its utility for the detection and interpretation of variants missed by current standard diagnostic approaches.
Journal ArticleDOI
Highly sensitive spatial transcriptomics at near-cellular resolution with Slide-seqV2.
Robert R. Stickels,Robert R. Stickels,Evan Murray,Pawan Kumar,Jilong Li,Jamie L. Marshall,Daniela J. Di Bella,Paola Arlotta,Evan Z. Macosko,Evan Z. Macosko,Fei Chen,Fei Chen +11 more
TL;DR: Slide-seqV2, a technology that enables transcriptome-wide detection of RNAs with a spatial resolution of 10 μm, is reported, which combines improvements in library generation, bead synthesis and array indexing to reach an RNA capture efficiency ~50% that of single-cell RNA-seq data (~10-fold greater than Slide-seq).
Journal ArticleDOI
Disease-associated astrocytes in Alzheimer's disease and aging.
Naomi Habib,Naomi Habib,Cristin McCabe,Sedi Medina,Miriam Varshavsky,Daniel Kitsberg,Raz Dvir-Szternfeld,Gilad Green,Danielle Dionne,Lan Nguyen,Jamie L. Marshall,Fei Chen,Feng Zhang,Feng Zhang,Feng Zhang,Tommy Kaplan,Aviv Regev,Aviv Regev,Michal Schwartz,Michal Schwartz +19 more
TL;DR: A new subset of disease-associated astrocytes (DAAs) is identified in a mouse model of Alzheimer’s disease by single-nucleus RNA sequencing, suggesting their linkage to genetic and age-related factors.
Journal ArticleDOI
Quantifying prion disease penetrance using large population control cohorts
Eric Vallabh Minikel,Eric Vallabh Minikel,Sonia M Vallabh,Sonia M Vallabh,Monkol Lek,Monkol Lek,Karol Estrada,Karol Estrada,Kaitlin E. Samocha,Kaitlin E. Samocha,J. Fah Sathirapongsasuti,Cory Y. McLean,Joyce Y. Tung,Linda P.C. Yu,Pierluigi Gambetti,Janis Blevins,Shulin Na Zhang,Yvonne Cohen,Wei Chen,Masahito Yamada,Tsuyoshi Hamaguchi,Nobuo Sanjo,Hidehiro Mizusawa,Yosikazu Nakamura,Tetsuyuki Kitamoto,Steven J. Collins,Alison Boyd,Robert G. Will,Richard Knight,Claudia Ponto,Inga Zerr,Theo F. J. Kraus,Sabina Eigenbrod,Armin Giese,Miguel Calero,Jesús de Pedro-Cuesta,Stéphane Haïk,Jean-Louis Laplanche,Elodie Bouaziz-Amar,Jean Philippe Brandel,Sabina Capellari,Piero Parchi,Anna Poleggi,Anna Ladogana,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Konrad J. Karczewski,Konrad J. Karczewski,Jamie L. Marshall,Jamie L. Marshall,Michael Boehnke,Markku Laakso,Karen L. Mohlke,Anna K. Kähler,Kimberly Chambert,Steven A. McCarroll,Patrick F. Sullivan,Patrick F. Sullivan,Christina M. Hultman,Shaun Purcell,Pamela Sklar,Sven J. van der Lee,Annemieke J. M. Rozemuller,Casper Jansen,Albert Hofman,Robert Kraaij,Jeroen van Rooij,M. Arfan Ikram,André G. Uitterlinden,Cornelia M. van Duijn,Mark J. Daly,Mark J. Daly,Daniel G. MacArthur,Daniel G. MacArthur +73 more
TL;DR: It is shown that missense variants in PRNP previously reported to be pathogenic are at least 30 times more common in the population than expected on the basis of genetic prion disease prevalence, a finding that supports the safety of therapeutic suppression of prion protein expression.