Reanalysis of Exome Data Identifies Novel <i>SLC25A46</i> Variants Associated with Leigh Syndrome by Qifei Li, Jill A. Madden, Jasmine Lin, Jiahai Shi, Samantha M. Rosen, Klaus Schmitz-Abe, Pankaj B. Agrawal

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P672: Long-read sequencing reveals a novel pathogenic variant in IKBKG with associated skewed X-inactivation in affected females by Danny Miller, Camille Dash, David Miller, Miranda Galey, Jasmine Lin, Jill A. Madden, Alan Beggs, Pankaj Agrawal, Casie Genetti, Monica Wojcik

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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 Cristabelle De Souza, Jill A. Madden, Dennis Minn, Vigneshwari Easwar Kumar, Dennis J. Montoya, Roshni Nambiar, Zheng Zhu, Wen-Wu Xiao, Neeki Tahmassebi, Harikumara Kathi, Nina Nelson, Anthony N. Karnezis, Jeremy Chien

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A novel syndrome associated with prenatal fentanyl exposure by Erin Wadman, Erica Fernandes, Candace Muss, Nina Powell-Hamilton, Monica H. Wojcik, Jill A. Madden, Chrystalle Katte Carreon, Robin D. Clark, Annie Stenftenagel, Kamal Chikalard, Virginia Kimonis, William Brucker, Carolina Alves, Karen W. Gripp

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A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders by Jignesh R. Parikh, Casie A. Genetti, Asli Aykanat, Catherine A. Brownstein, Klaus Schmitz-Abe, Morgan Danowski, Andrew Quitadomo, Jill A. Madden, Calum Yacoubian, Richard Gain, Tessa Williams, Mary Meskell, Andrew Brown, Alison Frith, Shira Rockowitz, Piotr Sliz, Pankaj B. Agrawal, Thomas Defay, Paul McDonagh, John Reynders, Sebastien Lefebvre, Alan H. Beggs

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A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings. by Qifei Li, Michal Dibus, Alicia Casey, Christina S K Yee, Sara O Vargas, Shiyu Luo, Samantha M Rosen, Jill A Madden, Casie A Genetti, Jan Brabek, Catherine A Brownstein, Shideh Kazerounian, Benjamin A Raby, Klaus Schmitz-Abe, John C Kennedy, Martha P Fishman, Mary P Mullen, Joan M Taylor, Daniel Rosel, Pankaj B Agrawal

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Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms by Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin Swartz, Samantha A. Schrier Vergano, Meghan C. Towne, Kimberly Nugent, Elizabeth R. Roeder, Christina Kresge, Beth A. Pletcher, Katheryn Grand, John M. Graham Jr., Ryan Gates, Natalia Gomez‐Ospina, Subhadra Ramanathan, Robin Dawn Clark, Kimberly Glaser, Paul J. Benke, Julie S. Cohen, Ali Fatemi, Weiyi Mu, Kristin W. Baranano, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu, Pankaj B. Agrawal, Mary‐Kathryn Chambers, Chanika Phornphutkul, John A. Pugh, Kate A. Tauber, Svetlana Azova, Jessica R. Smith, Anne O’Donnell‐Luria, Hannah Medsker, Siddharth Srivastava, Deborah Krakow, Daniela N. Schweitzer, Valerie A. Arboleda

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