Search Results - "Madden, Jill"

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield by Gubbels, Cynthia S., VanNoy, Grace E., Madden, Jill A., Copenheaver, Deborah, Yang, Sandra, Wojcik, Monica H., Gold, Nina B., Genetti, Casie A., Stoler, Joan, Parad, Richard B., Roumiantsev, Sergei, Bodamer, Olaf, Beggs, Alan H., Juusola, Jane, Agrawal, Pankaj B., Yu, Timothy W.

“…To investigate the impact of rapid-turnaround exome sequencing in critically ill neonates using phenotype-based subject selection criteria. Intensive care unit…”
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Belzutifan, a Potent HIF2α Inhibitor, in the Pacak–Zhuang Syndrome by Kamihara, Junne, Hamilton, Kayla V, Pollard, Jessica A, Clinton, Catherine M, Madden, Jill A, Lin, Jasmine, Imamovic, Alma, Wall, Catherine B, Wassner, Ari J, Weil, Brent R, Heeney, Matthew M, Vargas, Sara O, Kaelin, William G, Janeway, Katherine A, Perini, Rodolfo F, Zojwalla, Naseem J, Voss, Stephan D, DuBois, Steven G

“…The integration of genomic testing into clinical care enables the use of individualized approaches to the management of rare diseases. We describe the use of…”
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Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes by Schmitz-Abe, Klaus, Li, Qifei, Rosen, Samantha M, Nori, Neeharika, Madden, Jill A, Genetti, Casie A, Wojcik, Monica H, Ponnaluri, Sadhana, Gubbels, Cynthia S, Picker, Jonathan D, O'Donnell-Luria, Anne H, Yu, Timothy W, Bodamer, Olaf, Brownstein, Catherine A, Beggs, Alan H, Agrawal, Pankaj B

“…Clinical exome sequencing (CES) is increasingly being utilized; however, a large proportion of patients remain undiagnosed, creating a need for a systematic…”
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A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene by Zhao, Boxun, Madden, Jill A, Lin, Jasmine, Berry, Gerard T, Wojcik, Monica H, Zhao, Xuefang, Brand, Harrison, Talkowski, Michael, Lee, Eunjung Alice, Agrawal, Pankaj B

“…Pathogenic variants in the SRCAP (SNF2-related CREBBP activator protein) gene, which encodes a chromatin-remodeling ATPase, cause neurodevelopmental disorders…”
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Obesity alters phosphoramide mustard-induced ovarian DNA repair in mice by Ganesan, Shanthi, Nteeba, Jackson, Madden, Jill A, Keating, Aileen F

“…Phosphoramide mustard (PM) destroys rapidly dividing cells and activates the DNA double strand break marker, γH2AX, and DNA repair in rat granulosa cells and…”
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High number of candidate gene variants are identified as disease‐causing in a period of 4 years by Hills, Sonia, Li, Qifei, Madden, Jill A., Genetti, Casie A., Brownstein, Catherine A., Schmitz‐Abe, Klaus, Beggs, Alan H., Agrawal, Pankaj B.

“…Advances in bioinformatic tools paired with the ongoing accumulation of genetic knowledge and periodic reanalysis of genomic sequencing data have led to an…”
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A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings by Li, Qifei, Dibus, Michal, Casey, Alicia, Yee, Christina S K, Vargas, Sara O, Luo, Shiyu, Rosen, Samantha M, Madden, Jill A, Genetti, Casie A, Brabek, Jan, Brownstein, Catherine A, Kazerounian, Shideh, Raby, Benjamin A, Schmitz-Abe, Klaus, Kennedy, John C, Fishman, Martha P, Mullen, Mary P, Taylor, Joan M, Rosel, Daniel, Agrawal, Pankaj B

“…ARHGAP42 encodes Rho GTPase activating protein 42 that belongs to a member of the GTPase Regulator Associated with Focal Adhesion Kinase (GRAF) family…”
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Olaparib-induced Adaptive Response Is Disrupted by FOXM1 Targeting that Enhances Sensitivity to PARP Inhibition by Fang, Pingping, Madden, Jill A, Neums, Lisa, Moulder, Ryan K, Forrest, M Laird, Chien, Jeremy

“…FOXM1 transcription factor network is activated in over 84% of cases in high-grade serous ovarian cancer (HGSOC), and FOXM1 upregulates the expression of genes…”
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Infant mortality: the contribution of genetic disorders by Wojcik, Monica H., Schwartz, Talia S., Thiele, Katri E., Paterson, Heather, Stadelmaier, Rachel, Mullen, Thomas E., VanNoy, Grace E., Genetti, Casie A., Madden, Jill A., Gubbels, Cynthia S., Yu, Timothy W., Tan, Wen-Hann, Agrawal, Pankaj B.

“…Objective To determine the proportion of infant deaths occurring in the setting of a confirmed genetic disorder. Study design A retrospective analysis of the…”
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Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders by Li, Qifei, Agrawal, Rohan, Schmitz-Abe, Klaus, Genetti, Casie A, Fernandes, Melissa A, Fryou, Noah L, Madden, Jill A, Brownstein, Catherine A, Smith, Edward C, Rajabi, Farrah, Beggs, Alan H, Agrawal, Pankaj B

“…Clinical exome/genome sequencing is increasingly being utilized by clinicians to diagnose various likely genetic conditions, but many cases remain undiagnosed…”
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Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay by Tan, Senwei, Zhang, Qiumeng, Zhan, Rui, Luo, Si, Han, Yaoling, Yu, Bin, Muss, Candace, Pingault, Veronique, Marlin, Sandrine, Delahaye, Andrée, Peters, Sophia, Perne, Claudia, Kreiß, Martina, Spataro, Nino, Trujillo-Quintero, Juan Pablo, Racine, Caroline, Tran-Mau-Them, Frederic, Phornphutkul, Chanika, Besterman, Aaron D, Martinez, Julian, Wang, Xiuxia, Tian, Xiaoyu, Srivastava, Siddharth, Urion, David K, Madden, Jill A, Saif, Hind Al, Morrow, Michelle M, Begtrup, Amber, Li, Xing, Jurgensmeyer, Sarah, Leahy, Peter, Zhou, Shimin, Li, Faxiang, Hu, Zhengmao, Tan, Jieqiong, Xia, Kun, Guo, Hui

“…De novo variants adjacent to the canonical splicing sites or in the well-defined splicing-related regions are more likely to impair splicing but remain…”
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Phosphoramide mustard induces autophagy markers and mTOR inhibition prevents follicle loss due to phosphoramide mustard exposure by Madden, Jill A., Thomas, Porsha Q., Keating, Aileen F.

“…•Phosphoramide mustard histologically alters follicle structure prior to demise.•Rapamycin prevents phosphoramide mustard-induced follicle loss.•Phosphoramide…”
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Progressive obesity alters ovarian insulin, phosphatidylinositol-3 kinase, and chemical metabolism signaling pathways and potentiates ovotoxicity induced by phosphoramide mustard in mice by Nteeba, Jackson, Ganesan, Shanthi, Madden, Jill A, Dickson, Mackenzie J, Keating, Aileen F

“…Mechanisms underlying obesity-associated reproductive impairment are ill defined. Hyperinsulinemia is a metabolic perturbation often observed in obese…”
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Ovarian xenobiotic biotransformation enzymes are altered during phosphoramide mustard-induced ovotoxicity by Madden, Jill A, Keating, Aileen F

“…The anti-neoplastic prodrug, cyclophosphamide, requires biotransformation to phosphoramide mustard (PM), which partitions to volatile chloroethylaziridine…”
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Impact of returning unsolicited genomic results to nongenetic health care providers in the eMERGE III Network by Madden, Jill A., Brothers, Kyle K., Williams, Janet L., Myers, Melanie F., Leppig, Kathleen A., Clayton, Ellen Wright, Wiesner, Georgia L., Holm, Ingrid A.

“…As genomic sequencing becomes more common, medically actionable secondary findings will increasingly be returned to health care providers (HCPs), who will be…”
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The P72R Polymorphism in R248Q/W p53 Mutants Modifies the Mutant Effect on Epithelial to Mesenchymal Transition Phenotype and Cell Invasion via CXCL1 Expression by De Souza, Cristabelle, Madden, Jill A, Minn, Dennis, Kumar, Vigneshwari Easwar, Montoya, Dennis J, Nambiar, Roshni, Zhu, Zheng, Xiao, Wen-Wu, Tahmassebi, Neeki, Kathi, Harikumara, Nelson, Nina, Karnezis, Anthony N, Chien, Jeremy

“…High-grade serous carcinoma (HGSC), the most lethal subtype of epithelial ovarian cancer (EOC), is characterized by widespread mutations (>90%), most of which…”
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PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations by Tremblay‐Laganière, Camille, Kaiyrzhanov, Rauan, Maroofian, Reza, Nguyen, Thi Tuyet Mai, Salayev, Kamran, Chilton, Ilana T., Chung, Wendy K., Madden, Jill A., Phornphutkul, Chanika, Agrawal, Pankaj B., Houlden, Henry, Campeau, Philippe M.

“…Phosphatidylinositol Glycan Anchor Biosynthesis class H (PIGH) is an essential player in the glycosylphosphatidylinositol (GPI) synthesis, an anchor for…”
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Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis by D'Gama, Alissa M., England, Eleina, Madden, Jill A., Shi, Jiahai, Chao, Katherine R., Wojcik, Monica H., Torres, Alcy R., Tan, Wen‐Hann, Berry, Gerard T., Prabhu, Sanjay P., Agrawal, Pankaj B.

“…Inherited optic neuropathies (IONs) are neurodegenerative disorders characterized by optic atrophy with or without extraocular manifestations. Optic atrophy‐10…”
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Glutathione S-transferase class mu regulation of apoptosis signal-regulating kinase 1 protein during VCD-induced ovotoxicity in neonatal rat ovaries by Bhattacharya, Poulomi, Madden, Jill A., Sen, Nivedita, Hoyer, Patricia B., Keating, Aileen F.

“…4-Vinylcyclohexene diepoxide (VCD) destroys ovarian primordial and small primary follicles via apoptosis. In mice, VCD exposure induces ovarian mRNA expression…”
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Acute 7,12-dimethylbenz[a]anthracene exposure causes differential concentration-dependent follicle depletion and gene expression in neonatal rat ovaries by Madden, Jill A., Hoyer, Patricia B., Devine, Patrick J., Keating, Aileen F.

“…Chronic exposure to the polycyclic aromatic hydrocarbon 7,12-dimethylbenz[a]anthracene (DMBA), generated during combustion of organic matter including…”
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