Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumor-only versus paired tumor-normal sequencing

Autor: Haley Newman, Mary Egan Clark, Derek Wong, Jinhua Wu, Garrett M Brodeur, Stephen P Hunger, Sarah K Tasian, Timothy Olson, Julia T. Warren, David T Teachey, Kira Bona, Jeffrey Schubert, Netta Golenberg, Maha Patel, Elizabeth H Denenberg, Elizabeth A Fanning, Jiani Chen, Tamara Luke, Sarah Charles, Daniel Gallo, Kajia Cao, Weixuan Fu, Zhiqian Fan, Lea F Surrey, Gerald Wertheim, Minjie Luo, Suzanne P MacFarland, Marilyn M Li, Yiming Zhong

Publikováno v: Haematologica, Vol 999, Iss 1 (2024)

Not available.

Externí odkaz: https://doaj.org/article/39f2d8cef8eb498bb68523732629bf05

Mavorixafor for Patients with Chronic Neutropenic Disorders: Results from a Phase 1b, Open-Label, Multicenter Study

Autor: Julia T. Warren, Kelly J. Walkovich, Audrey Anna Bolyard, Kathryn E. Dickerson, Jolan E. Walter, Diego Cadavid, Eloisa Chapa, Kelly Chen, Richard MacLeod, Katie Peters, Richard Polisson, David C. Dale

Publikováno v: Blood. 140:1408-1410

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c919b041177273de74d08d4fb125fec7
https://doi.org/10.1182/blood-2022-156216

Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights

Autor: Elena J Tucker, Megan J Baker, Daniella H Hock, Julia T Warren, Sylvie Jaillard, Katrina M Bell, Rajini Sreenivasan, Shabnam Bakhshalizadeh, Chloe A Hanna, Nikeisha J Caruana, Saskia B Wortmann, Shamima Rahman, Robert D S Pitceathly, Jean Donadieu, Aurelia Alimi, Vincent Launay, Paul Coppo, Sophie Christin-Maitre, Gorjana Robevska, Jocelyn van den Bergen, Brianna L Kline, Katie L Ayers, Phoebe N Stewart, David A Stroud, Diana Stojanovski, Andrew H Sinclair

Publikováno v: Journal of Clinical Endocrinology and Metabolism, 107, 12, pp. 3328-3340
Journal of Clinical Endocrinology and Metabolism, 107, 3328-3340
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 2022, ⟨10.1210/clinem/dgac528⟩

Context Premature ovarian insufficiency (POI) is a common form of female infertility that usually presents as an isolated condition but can be part of various genetic syndromes. Early diagnosis and treatment of POI can minimize comorbidity and improv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e19e3ab2117292386cfd6e43b40e1c1
https://pubmed.ncbi.nlm.nih.gov/36074910

Clonal hematopoiesis and risk for hematologic malignancy

Autor: Daniel C. Link, Julia T. Warren

Publikováno v: Blood

Clonal hematopoiesis is common in older persons and is associated with an increased risk of hematologic cancer. Here, we review studies establishing an association between clonal hematopoiesis and hematopoietic malignancy, discuss features of clonal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba75dead1d5913a33fa076acc608f655
https://doi.org/10.1182/blood.2019000991

Spectrum of Pathogenic Genetic Variants in a Large Cohort of North American Congenital and Cyclic Neutropenia Patients: A Report from the Severe Chronic Neutropenia International Registry

Autor: Julia T. Warren, Merideth L. Kelley, David C. Dale, Daniel C. Link, Vahagn Makaryan, Audrey Anna Bolyard

Publikováno v: Blood. 138:2059-2059

Severe congenital neutropenia (SCN) is characterized by persistent neutropenia and risk of invasive, life-threatening infection as well as transformation to hematopoietic malignancy. The closely related syndrome cyclic neutropenia is characterized by

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::74900273222a44cd75e2584820208c05
https://doi.org/10.1182/blood-2021-153783