K
Krista Bluske
Researcher at Illumina
Publications - 5
Citations - 138
Krista Bluske is an academic researcher from Illumina. The author has contributed to research in topics: Copy-number variation & 1p36 deletion syndrome. The author has an hindex of 3, co-authored 5 publications receiving 71 citations.
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Journal ArticleDOI
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease
Andrew M. Gross,Subramanian S. Ajay,Vani Rajan,Carolyn Brown,Krista Bluske,Nicole J. Burns,Aditi Chawla,Alison J. Coffey,Alka Malhotra,Alicia Scocchia,Erin Thorpe,Natasa Dzidic,Karine Hovanes,Trilochan Sahoo,Egor Dolzhenko,Bryan R. Lajoie,Amirah Khouzam,Shimul Chowdhury,John W Belmont,Eric Roller,Sergii Ivakhno,Stephen Tanner,Julia McEachern,Tina Hambuch,Michael A. Eberle,R. Tanner Hagelstrom,David R. Bentley,Denise L. Perry,Ryan J. Taft +28 more
TL;DR: It is found that CNV calls from GS are at least as sensitive as those from microarrays, while only creating a modest increase in the number of variants interpreted, suggesting that robust identification of CNVs by GS is possible within a clinical testing environment.
Journal ArticleDOI
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
Francesca Clementina Radio,Kaifang Pang,Andrea Ciolfi,Michael A. Levy,Andres Hernandez-Garcia,Lucia Pedace,Francesca Pantaleoni,Zhandong Liu,Elke de Boer,Adam Jackson,Adam Jackson,Alessandro Bruselles,Haley McConkey,Emilia Stellacci,Stefania Lo Cicero,Marialetizia Motta,Rosalba Carrozzo,Maria Lisa Dentici,Kirsty McWalter,Megha Desai,Kristin G. Monaghan,Aida Telegrafi,Christophe Philippe,Antonio Vitobello,Margaret Au,Katheryn Grand,Pedro A. Sanchez-Lara,Joanne Baez,Kristin Lindstrom,Peggy Kulch,Jessica Sebastian,Suneeta Madan-Khetarpal,Chelsea Roadhouse,Jennifer MacKenzie,Berrin Monteleone,Carol J Saunders,July K. Jean Cuevas,Laura A Cross,Dihong Zhou,Taila Hartley,Sarah L. Sawyer,Fabíola Paoli Monteiro,Tania Vertemati Secches,Fernando Kok,Laura Schultz-Rogers,Erica L. Macke,Eva Morava,Eric W. Klee,Jennifer L. Kemppainen,Maria Iascone,Angelo Selicorni,Romano Tenconi,David J. Amor,Lynn Pais,Lyndon Gallacher,Peter D. Turnpenny,Karen Stals,Sian Ellard,Sara Cabet,Gaetan Lesca,Joset Pascal,Katharina Steindl,Sarit Ravid,Karin Weiss,Alison M R Castle,Melissa T. Carter,Louisa Kalsner,Bert B.A. de Vries,Bregje W.M. van Bon,Marijke R. Wevers,Rolph Pfundt,Alexander P.A. Stegmann,Bronwyn Kerr,Helen Kingston,Kate Chandler,Willow Sheehan,Abdallah F. Elias,Deepali N. Shinde,Meghan C. Towne,Nathaniel H. Robin,Dana H. Goodloe,Adeline Vanderver,Adeline Vanderver,Omar Sherbini,Krista Bluske,R. Tanner Hagelstrom,Caterina Zanus,Flavio Faletra,Luciana Musante,Evangeline Kurtz-Nelson,Rachel K. Earl,Britt-Marie Anderlid,Gilles Morin,Marjon van Slegtenhorst,Karin E. M. Diderich,Alice S. Brooks,Joost Gribnau,Ruben Boers,Teresa Robert Finestra,Lauren Carter,Anita Rauch,Paolo Gasparini,Paolo Gasparini,Kym M. Boycott,Tahsin Stefan Barakat,John M. Graham,Laurence Faivre,Siddharth Banka,Siddharth Banka,Tianyun Wang,Evan E. Eichler,Manuela Priolo,Bruno Dallapiccola,Lisenka E.L.M. Vissers,Bekim Sadikovic,Daryl A. Scott,Jimmy Holder,Marco Tartaglia +117 more
TL;DR: In this article, the authors used clinical data from 34 individuals with truncating variants in SPEN to define a neurodevelopmental disorder presenting with features that overlap considerably with those of proximal del1p36 syndrome.
Journal ArticleDOI
Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.
Lisa Emrick,Jill A. Rosenfeld,Seema R. Lalani,Seema R. Lalani,Mahim Jain,Mahim Jain,Nilesh K. Desai,Austin Larson,Kimberly A. Kripps,Adeline Vanderver,Ryan J. Taft,Krista Bluske,Denise L. Perry,Honey Nagakura,LaDonna Immken,Lindsay C. Burrage,Carlos A. Bacino,Carlos A. Bacino,John W. Belmont,John W. Belmont,Brendan Lee +20 more
TL;DR: A cohort contributes evidence to the presence of additional genetic changes within 17p13.3 required for proper brain development, with RTN4RL1 haploinsufficiency as the best candidate for causing this phenotype.
Journal ArticleDOI
Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).
Kristen K Rosano,Daniel J. Wegner,Marwan Shinawi,Dustin Baldridge,Robert C. Bucelli,Sonika Dahiya,Frances V. White,Marcia C. Willing,William McAllister,Ryan J. Taft,Krista Bluske,Amanda Buchanan,F S Cole,Jennifer A. Wambach +13 more
TL;DR: In this article, the authors describe an infant with severe, diffuse hypotonia, congenital contractures, and pulmonary hypoplasia characteristic of SMABF2, with the unique features of cleft palate, small spleen, transverse liver and pulmonary thromboemboli with chondroid appearance.
Posted ContentDOI
Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed disease
Andrew M. Gross,Subramanian S. Ajay,Rajan,Carolyn Brown,Krista Bluske,Nicole J. Burns,Aditi Chawla,Alison J. Coffey,Alka Malhotra,Alicia Scocchia,Erin Thorpe,Natasa Dzidic,Karine Hovanes,Trilochan Sahoo,Egor Dolzhenko,Bryan R. Lajoie,Amirah Khouzam,Shimul Chowdhury,John W Belmont,Eric Roller,Sergii Ivakhno,Stephen Tanner,Julia McEachern,Tina Hambuch,Michael A. Eberle,R. Tanner Hagelstrom,David R. Bentley,Denise L. Perry,Ryan J. Taft +28 more
TL;DR: It is found that CNV calls from WGS are at least as sensitive as those from microarrays, while only creating a modest increase in the number of variants interpreted (~10 CNVs per case).