Lethal neonatal acidosis: Multiomic investigation of a novel HIBCH variant as the underlying cause by Sonali Patel, Muhammad Zain-ul-abideen, Genevieve Guyol, Lance H. Rodan, Casie A. Genetti, Amy Z. Ren, Philip Connors, Patricia Davenport, Ruby Bartolome, Inderneel Sahai, Vijay S. Ganesh, Monica H. Wojcik

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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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Long-read sequencing is required for precision diagnosis of incontinentia pigmenti by Monica H. Wojcik, Robin D. Clark, Abdallah F. Elias, Casie A. Genetti, Jill A. Madden, Dana Simpson, Linda Golkar, Miranda P.G. Zalusky, Angela L. Miller, Araceli Rodriguez, Joy Goffena, Camille A. Dash, Nikhita Damaraju, Sophia B. Gibson, Sophie H.R. Storz, Zachary B. Anderson, Jonas A. Gustafson, Isabelle Thiffault, Emily G. Farrow, Tomi Pastinen, Jasmine Lin, Jennifer T. Huang, Alan H. Beggs, Pankaj B. Agrawal, David T. Miller, Danny E. Miller

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