Search Results - "Krishnamurthy, Sarath"

Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling by Gorvin, Caroline M, Metpally, Raghu, Stokes, Victoria J, Hannan, Fadil M, Krishnamurthy, Sarath B, Overton, John D, Reid, Jeffrey G, Breitwieser, Gerda E, Thakker, Rajesh V

“…Abstract Mutations of the sigma subunit of the heterotetrameric adaptor-related protein complex 2 (AP2σ) impair signalling of the calcium-sensing receptor…”
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Hidden Burden of Electronic Health Record-Identified Familial Hypercholesterolemia: Clinical Outcomes and Cost of Medical Care by Patel, Prashant, Hu, Yirui, Kolinovsky, Amy, Geng, Zhi, Ruhl, Jeffrey, Krishnamurthy, Sarath, deRichemond, Caroline, Khan, Ayesha, Kirchner, H Lester, Metpally, Raghu, Jones, Laney K, Sturm, Amy C, Carey, David, Snyder, Susan, Williams, Marc S, Mehra, Vishal C

“…Background Familial hypercholesterolemia ( FH ), is a historically underdiagnosed, undertreated, high-risk condition that is associated with a high burden of…”
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THE HIDDEN BURDEN OF EHR-IDENTIFIED FAMILIAL HYPERCHOLESTEROLEMIA: MORTALITY AND CLINICAL OUTCOMES by Patel, Prashant, Kolinovsky, Amy, Ruhl, Jeffrey, Krishnamurthy, Sarath, Beer, Dominik, Kirchner, Lester, Metpally, Raghu, Carey, David, Mehra, Vishal

“…Methods: In our 1.18 million EHR eligible cohort, International Classification of Disease (ICD)-defined hyperlipidemia was categorized into FH and non FH…”
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The imperative of clinical and molecular research on neonatal opioid withdrawal syndrome by Metpally, Raghu P., Krishnamurthy, Sarath, Moran, Karena M., Weller, Andrew E., Crist, Richard C., Reiner, Benjamin C., Doyle, Glenn A., Ferraro, Thomas N., Radhakrishna, Uppala, Bahado-Singh, Ray, Troiani, Vanessa, Berrettini, Wade H.

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Abstract 2557: Germline mutations in renal cancer predisposing genes: Analysis of the Geisinger MyCode population by Williams, Heinric, Metpally, Raghu, Mohamed, Mahmoud, Krishnamurthy, Sarath, Kip, Sertac, Carey, David J., Baras, Aris, Overton, John

“…Abstract Renal cell cancer (RCC) is not a single disease but is made up of a number of cancers, each with a unique histology, biology, clinical course and…”
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Abstract 117: Anti-proliferative and cytotoxic effects of verteporfin in endometrial cancer cells by Gogoi, Radhika P., Castañeda-Gill, Jessica M., Metpally, Raghu P., Krishnamurthy, Sarath B., Vishwanatha, Jamboor K., Carey, David J., Nash, John D., Dasari, Venkata Ramesh

“…Abstract Endometrial cancer (EMCA) is the most prevalent gynecologic cancer in women in the United States. The relatively poor prognosis and limited…”
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Abstract 16505: Sarcomeric Variants in an Imaging-Based, Cardiovascular Phenotype From the Discovehr Cohort by Patel, Prashant, Hu, Yirui, Krishnamurthy, Sarath, Kolinovsky, Amy, Ruhl, Jeffrey, Khan, Ayesha, Kirchner, Lester, Sturm, Amy, Ledbetter, David, Carey, David, Robishaw, Janet, Metpally, Raghu, Mehra, Vishal C

“…IntroductionThe prevalence of rare (MAF < 1%) nonsynonymous sarcomeric variants in the general population has been estimated at 11% with putative pathogenic…”
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