Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ? von Sarma, Asodu Sandeep, Peter Mathew, Rohan, Dalal, Ashwin, Bhat, Venkatraman, Patil, Siddaramappa Jagdish

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A unique case of hyperammonemia due to CA5A deficiency: Impact of coexisting gene mutations, pseudogene, and microdeletion von Mathew, Rohan Peter, Ranya Raghavendra, Prashanth, Disha, Biradar, Dalal, Ashwin, Govindaraj, Periyasamy

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Mitochondria in biology and medicine – 2023 von Disha, B., Mathew, Rohan Peter, Dalal, Ashwin B., Mahato, Ajay K., Satyamoorthy, Kapaettu, Singh, Keshav K., Thangaraj, Kumarasamy, Govindaraj, Periyasamy

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RNA splicing programs define tissue compartments and cell types at single-cell resolution von Olivieri, Julia Eve, Dehghannasiri, Roozbeh, Wang, Peter L, Jang, SoRi, de Morree, Antoine, Tan, Serena Y, Ming, Jingsi, Ruohao Wu, Angela, Quake, Stephen R, Krasnow, Mark A, Salzman, Julia

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Admission avoidance in acute epistaxis: A prospective national audit during the initial peak of the COVID‐19 pandemic von Hardman, John C., Smith, Matthew E., Swords, Chloe, Rocke, John P. J., Walker, Abigail, Milinis, Kristijonas, Hutson, Kristian, Heward, Elliot, Shakeel, Muhammad, Bance, Manohar, Smyth, Catherine, McCrory, David, Spraggs, Paul, Khosla, Shivun, Takwoingi, Yohanna, Strachan, David, Myuran, Tharsika, Rennie, Catherine, Tse, Antonia, Reddy, Ekambar, Kara, Naveed, Williams, Richard, Quraishi, Muhammad, Khemani, Sameer, Liu, Alison, Kirkland, Paul, Vasanthan, Rishi, Miah, Mohammed, Lee, Kristina, Williams, Mark R, Karagama, Yakubu, Xie, Carol, De, Mriganka, Amlani, Aakash, Jassar, Patrick, Patil, Sachin, Philpott, Carl, Das, Sudip, Cole, Simon, Vijendren, Ananth, Kothari, Prasad, Advani, Rajeev, Toma, Shamim, Costello, Rhodri, Evans, Louise, Ojha, Shilpa, Spielmann, Patrick, Supriya, Mrinal, Masood, Ajmal, Dewhurst, Samuel, Ward, Victoria, Nemeth, Zsofia, Terry, Roland, Yang, Ding, Monksfield, Peter, Muzaffar, Jameel, Siddiq, Azher, Whittaker, Joshua D, Vakharia, Nilesh, Cooper, Fergus, Izzat, Steve, Nair, Dilip, Tan, Shawn, Gilchrist, Jennifer, Ray, Jaydip, Eastwood, Michael, Sunkaraneni, Vishnu S., Moore, Andrew, Mawby, Thomas, Jindal, Mudit, Geyer, Marcel, Jones, Huw, Ghasemi, Aria Amir, Trinidade, Aaron, Bennett, Alex, Thomas, George, Elmorsy, Mohamed, Williams, Clare, Zammit, Matthew, Seymour, Kay, Potter, Chris, Easto, Rachel, Syed, Irfan, Walker, David, Stewart, Kirsten, Simmons, Mark, Abou‐Foul, Ahmad K, Bathala, Srinivasalu, Almeyda, John, Leadon, Madeline, Fahmy, Fahmy, Kaleva, Anna I., Bates, James, Selwyn, Anya, Daultrey, Charles, Patel, Sanjay, Siau, Derrick, Sawant, Rupali, Moore, Phillip, Ali, Faiza

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Failure to Validate Association between 12p13 Variants and Ischemic Stroke

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O1‐07‐06: A genome‐wide association study of progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) von Schellenberg, Gerard D., Höglinger, Günter, Sleiman, Patrick, Rademakers, Rosa, Kei, Lambertus, Silva, Rohan, Wang, Li-San, Yu, Chang-En, PSP/CBD Consortium, Heutink, Peter, Swieten, John, Farrer, Mathew, Hardy, John, Lees, Andrew, Devlin, Bernie, Hakonarson, Hakon, Dickson, Dennis W., Müller, Ulrich

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A genome-wide association study of progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) von Schellenberg, Gerard D, Höglinger, Günter, Sleiman, Patrick, Rademakers, Rosa, Kei, Lambertus, de Silva, Rohan, Wang, Li-San, Yu, Chang-En, Heutink, Peter, van Swieten, John, Farrer, Mathew, Hardy, John, Lees, Andrew, Devlin, Bernie, Hakonarson, Hakon, Dickson, Dennis W, Müller, Ulrich

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