K
Katherine A. Siminovitch
Researcher at Lunenfeld-Tanenbaum Research Institute
Publications - 201
Citations - 18546
Katherine A. Siminovitch is an academic researcher from Lunenfeld-Tanenbaum Research Institute. The author has contributed to research in topics: Genome-wide association study & Protein tyrosine phosphatase. The author has an hindex of 69, co-authored 191 publications receiving 17018 citations. Previous affiliations of Katherine A. Siminovitch include Karolinska Institutet & University of Toronto.
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Journal ArticleDOI
Genetic variation at the calcium-sensing receptor (CASR) locus: implications for clinical molecular diagnostics.
Francisco H. J. Yun,Betty Y.L. Wong,Maretta Chase,Andrew Y. Shuen,Lucie Canaff,Kansuda Thongthai,Katherine A. Siminovitch,Geoffrey N. Hendy,David E. C. Cole +8 more
TL;DR: Linkage disequilibrium analysis of the Caucasian cohort showed that the CASR locus is divided into three haplotype blocks, coincident with 5' regulatory, coding, and 3' regulatory domains, which will assist in the study of CASR polymorphisms as predictors of complex disease states.
Journal ArticleDOI
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank
Sean J. Jurgens,Seung Hoan Choi,Valerie Morrill,Mark Chaffin,James P. Pirruccello,Jennifer L. Halford,Lu-Chen Weng,Victor Nauffal,Carolina Roselli,Amelia W. Hall,Matthew T. Oetjens,Braxton Lagerman,David P. vanMaanen,Gonçalo R. Abecasis,Xiaodong Bai,Suganthi Balasubramanian,Aris Baras,Christina Beechert,Boris Boutkov,Michael Cantor,Giovanni Coppola,Tanima De,Andrew Deubler,Aris Bass Economides,Gi Seon Eom,Manuel A. R. Ferreira,Caitlin Forsythe,Erin D. Fuller,Zhenhua Gu,Lukas Habegger,Alicia Hawes,Marcus B. Jones,Katia Karalis,Shareef Khalid,Olga A. Krasheninina,Rouel Lanche,Michael Lattari,Dadong Li,Alexander Lopez,Luca A. Lotta,Kia Manoochehri,Adam Mansfield,Evan Maxwell,Jason Mighty,Lyndon J. Mitnaul,Mona Nafde,Jonas B. Nielsen,Sean O’Keeffe,Max Orelus,John D. Overton,Maria Sotiropoulos Padilla,Razvan Panea,Tommy Polanco,Manasi Pradhan,Ayesha Ghulam Rasool,Jeffrey G. Reid,William J Salerno,Thomas D. Schleicher,Alan R. Shuldiner,Katherine A. Siminovitch,Jeffrey Staples,Ricardo H. Ulloa,Niek Verweij,Louis Widom,Sarah E. Wolf,Krishna G. Aragam,Kathryn L. Lunetta,Christopher M. Haggerty,Steven A. Lubitz,Patrick T. Ellinor +69 more
TL;DR: This article analyzed the contribution of rare variants to 57 diseases and 26 cardiometabolic traits, using data from 200,337 UK Biobank participants with whole-exome sequencing.
Journal ArticleDOI
Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy.
Christiane Gruner,Melanie Care,Katherine A. Siminovitch,Gil Moravsky,E. Douglas Wigle,Anna Woo,Harry Rakowski +6 more
TL;DR: Only 13% of patients with apical HCM were found to be genotype positive, indicating that genome-wide association studies and gene expression profiling are needed for better understanding of the genetic background of the disease.
Posted ContentDOI
Common genetic variants identify therapeutic targets for COVID-19 and individuals at high risk of severe disease
Julie E. Horowitz,Jack A. Kosmicki,Amy Damask,Deepika Sharma,Genevieve H.L. Roberts,Anne E. Justice,Nilanjana Banerjee,Marie V. Coignet,Ashish Yadav,Joseph B. Leader,Anthony Marcketta,Danny S. Park,Rouel Lanche,Evan Maxwell,Spencer C. Knight,Xiaodong Bai,Harenda Guturu,Dylan Sun,Asher K. Haug Baltzell,Fabricio S. P. Kury,Joshua D. Backman,Ahna R. Girshick,Colm O'Dushlaine,Shannon R. McCurdy,Raghavendran Partha,Adam J. Mansfield,David A. Turissini,Alexander H. Li,Miao Zhang,Joelle Mbatchou,Kyoko Watanabe,Lauren Gurski,Shane McCarthy,Hyun Min Kang,Lee Dobbyn,Eli A. Stahl,Anurag Verma,Giorgio Sirugo,Marylyn D. Ritchie,Marcus B. Jones,Suganthi Balasubramanian,Katherine A. Siminovitch,William J Salerno,Alan R. Shuldiner,Daniel J. Rader,Tooraj Mirshahi,Adam E. Locke,Jonathan Marchini,John D. Overton,David J. Carey,Lukas Habegger,Michael N. Cantor,Kristin A. Rand,Eurie L. Hong,Jeffrey G. Reid,Catherine A. Ball,Aris Baras,Gonçalo R. Abecasis,Manuel A. R. Ferreira +58 more
TL;DR: Seven common genetic variants that modulate COVID-19 susceptibility and severity are identified, implicating IFNAR2, CCHCR1, TCF19, SLC6A20 and the hyaluronan pathway as potential therapeutic targets.
Journal ArticleDOI
The major SHP-1-binding, tyrosine-phosphorylated protein in macrophages is a member of the KIR/LIR family and an SHP-1 substrate
TL;DR: Observations identify SHP-1 interactions with and regulation of p91/PIR-B as a potential mechanism for inhibiting the signaling cascades linking extracellular stimuli to macrophage activation and/or development.