Accès ouvert
2026
article
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Shira Rockowitz, Wanqing Shao, Courtney French, Tina K. Truong et autres
Genomic reanalysis can identify causative variants for rare diseases as patient phenotypes evolve and gene-disease knowledge expands. Despite its diagnostic value, routine reanalysis is limited by clinician capacity, lack of patient follow-up, data silos, cost, and lack of availability of clinical data …
us
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2025
article
OpenAlex
Amanda L. Garrett, Erika Kline, Pressley Smith, Madelyn Wiesenhahn et autres
Background: Interstitial cystitis/bladder pain syndrome (IC/BPS) is a complex, chronic condition affecting the urinary bladder. Symptoms commonly associated with IC/BPS include painful urination, pain during intercourse, a persistent or recurrent sensation of bladder discomfort or pressure that often worsens as the bladder …
us, Ouganda, Kenya
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2023
article
OpenAlex
Catherine A. Brownstein, Elicia Estrella, Shira Rockowitz, Marielle Thorne et autres
You have accessJournal of UrologyCME1 Apr 2023MP60-02 ATP2C1 IS A CANDIDATE FOR INTERSTITIAL CYSTITIS/BLADDER PAIN SYNDROME Catherine Brownstein, Elicia Estrella, Shira Rockowitz, Marielle Thorne, Pressley Smith, Jeanette Petit, Veronica Zehnder, Richard Yu, Stuart Bauer, Charles Berde, Pankaj Agrawal, Alan Beggs, Louis Kunkel, …
Accès ouvert
2022
article
OpenAlex
Elicia Estrella, Shira Rockowitz, Marielle Thorne, Pressley Smith et autres
Abstract Interstitial cystitis/bladder pain syndrome (IC/BPS) is a chronic pain disorder causing symptoms of urinary frequency, urgency, and bladder discomfort or pain. Although this condition affects a large population, little is known about its etiology. Genetic analyses of whole exome sequencing are …
us
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