Denise L. Perry - Medical Genomics Research, Illumina, Inc

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Papers共 44 篇Author StatisticsCo-AuthorSimilar Experts

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P777: Genome Sequencing Detects Transposable Element (TE) Insertions in Two Diagnostic Challenging Cases

Revathi Rajkumar,Anjana Chandrasekhar, Zinayida Schlachetzki, Samin Sajan, Brittany Thomas, Becky Milewski, Joshua Lowry, Richard Wang, Jon Albay, Danny Miller, Kaitlyn Burns,Laura Davis-Keppen, Nora Urraca, Kerri Bosfield, Katherine Cung, Erin Venti,Ryan Taft,Denise Perry,Akanchha Kesari

Genetics in Medicine Open (2025): 103146

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The Impact of Clinical Genome Sequencing in a Global Population with Suspected Rare Genetic Disease

Erin Thorpe, Taylor Williams,Chad Shaw, Evgenii Chekalin,Julia Ortega,Keisha Robinson, Jason Button,Marilyn C. Jones,Miguel del Campo,Donald Basel,Julie McCarrier,Laura Davis Keppen,Erin Royer, Romina Foster-Bonds,Milagros M. Duenas-Roque,Nora Urraca,Kerri Bosfield,Chester W. Brown, Holly Lydigsen,Henry J. Mroczkowski,Jewell Ward,Fabio Sirchia,Elisa Giorgio,Keith Vaux, Hildegard Pena Salguero,Aime Lumaka,Gerrye Mubungu,Prince Makay,Mamy Ngole,Prosper Tshilobo Lukusa,Adeline Vanderver,Kayla Muirhead,Omar Sherbini,Melissa D. Lah,Katelynn Anderson,Jeny Bazalar-Montoya,Richard S. Rodriguez,Mario Cornejo-Olivas,Karina Milla-Neyra,Marwan Shinawi,Pilar Magoulas,Duncan Henry, Kate Gibson,Samuel Wiafe,Parul Jayakar,Daria Salyakina,Diane Masser-Frye,Arturo Serize,Jorge E. Perez,Alan Taylor,Shruti Shenbagam,Ahmad Abou Tayoun,Alka Malhotra,Maren Bennett,Vani Rajan,James Avecilla, Andrew Warren, Max Arseneault,Tasha Kalista,Ali Crawford,Subramanian S. Ajay,Denise L. Perry,John Belmont,Ryan J. Taft

AMERICAN JOURNAL OF HUMAN GENETICSno. 7 (2024)

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P636: Lp(a) Genetic Risk Screening Using Genome Sequencing

Samuel Strom,Laura Amendola,Aditi Chawla, Vitor Onucic,Denise Perry,Akanchha Kesari,Ryan Taft

Genetics in Medicine Open (2024): 101542

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A Framework for the Evaluation and Reporting of Incidental Findings in Clinical Genomic Testing

Carolyn M. Brown,Laura M. Amendola,Anjana Chandrasekhar,R. Tanner Hagelstrom, Gillian Halter,Akanchha Kesari,Erin Thorpe,Denise L. Perry,Ryan J. Taft,Alison J. Coffey

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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Clinical Genome Sequencing in Patients with Suspected Rare Genetic Disease in Peru

Jeny Bazalar-Montoya,Mario Cornejo-Olivas,Milagros M. Duenas-Roque, Nelson Purizaca-Rosillo,Richard S. Rodriguez,Karina Milla-Neyra, Carlos A. De La Torre-Hernandez,Elison Sarapura-Castro, Carolina I. Galarreta Aima,Gioconda Manassero-Morales, Giulliana Chavez-Pasco, Luis Celis-Garcia, Jorge E. La Serna-Infantes, Max Arseneault,Subramanian S. Ajay,James Avecilla,Maren Bennett,Krista Bluske,Carolyn M. Brown, Amanda Buchanan, Brendan Burns, Nicole Burns,Anjana Chandrasekhar,Aditi Chawla,Amanda Clause,Alison J. Coffey,Katie Golden-Grant,R. Tanner Hagelstrom,Rueben Hejja, Basil Juan,Akanchha Kesari,Alka Malhotra, Philip Medrano,Becky Milewski,Felipe Mullen, Viswateja Nelakuditi,Denise L. Perry,Vani Rajan,Revathi Rajkumar, Ajay Ramakrishnan, Samin Sajan,Zinayida Schlachetzki,Sarah Schmidt,Julie Taylor,Brittany Thomas, Sylwia Urbaniak, Andrew Warren, Evgenii Chekalin,Erin Thorpe,Ryan J. Taft

NPJ GENOMIC MEDICINEno. 1 (2024)

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Genome Sequencing Detects a Balanced Pericentric Inversion with Breakpoints That Impact the DMD and Upstream Region of POU3F4 Genes

Anjana Chandrasekhar,Henry J. Mroczkowski,Nora Urraca,Andrew Gross,Krista Bluske,Erin Thorpe,R. Tanner Hagelstrom, Steven A. Schonberg,Denise L. Perry,Ryan J. Taft,Akanchha Kesari

American Journal of Medical Genetics Part A（2023）

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The Landscape of Reported VUS in Multi-Gene Panel and Genomic Testing: Time for a Change

Heidi L. Rehm,Joseph T. Alaimo,Swaroop Aradhya,Pinar Bayrak-Toydemir,Hunter Best,Rhonda Brandon,Jillian G. Buchan,Elizabeth C. Chao,Elaine Chen,Jacob Clifford,Ana S. A. Cohen,Laura K. Conlin,Soma Das, Kyle W. Davis,Daniela del Gaudio,Florencia Del Viso,Christina Divincenzo,Marcia Eisenberg,Lucia Guidugli,Monia B. Hammer,Steven M. Harrison,Kathryn E. Hatchell, Lindsay Havens Dyer,Lily U. Hoang,James M. Holt,Vaidehi Jobanputra,Izabela D. Karbassi,Hutton M. Kearney,Melissa A. Kelly, Jacob M. Kelly,Michelle L. Kluge,Timothy Komala,Paul Kruszka,Lynette Lau,Matthew S. Lebo,Christian R. Marshall,Dianalee Mcknight,Kirsty Mcwalter, Yan Meng,Narasimhan Nagan, Christian S. Neckelmann,Nir Neerman,Zhiyv Niu,Vitoria K. Paolillo, Sarah A. Paolucci,Denise Perry,Tina Pesaran,Kelly Radtke,Kristen J. Rasmussen,Kyle Retterer,Carol J. Saunders,Elizabeth Spiteri,Christine Stanley,Anna Szuto,Ryan J. Taft,Isabelle Thiffault,Brittany C. Thomas,Amanda Thomas-Wilson,Erin Thorpe, Timothy J. Tidwell,Meghan C. Towne,Hana Zouk

Genetics in Medicineno. 12 (2023): 100947-100947

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The Smallest Likely Pathogenic Duplication of a SOX9 Enhancer Identified to Date in a Family with 46,XX Testicular Differences of Sex Development

Samin A. Sajan,Carolyn M. Brown,Laura Davis-Keppen, Kaitlyn Burns,Erin Royer,Jessica A. Cooley Coleman,Benjamin A. Hilton,Barbara R. DuPont,Denise L. Perry,Ryan J. Taft,Akanchha Kesari

AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 12 (2023): 2831-2836

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P471: Quad Whole Genome Sequencing Detects Reciprocal Copy Number Variants in Affected Siblings, Consistent with Familial Translocation

Katie Golden-Grant, Amanda Buchanan,Alison Coffey,Yvonne Brew,Brittany Thomas,Akanchha Kesari,Denise Perry,Ryan Taft

Genetics in Medicine Openno. 1 (2023): 100518-100518

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