Search Results - Alejandro Schaffer

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    P712: A novel framework for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification by Leslie Biesecker, Alicia Byrne, Steven Harrison, Tina Pesaran, Alejandro Schäffer, Brian Shirts, Sean Tavtigian, Heidi Rehm

    Published 2024-01-01
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    P254: Genetics of Perrault syndrome in a family with ten affected individuals by Rabia Faridi, Thomas Smith, Leigh M. Demain, Yasuko Ishibashi, Sayaka Inagaki, Huw Thomas, Alessandro Rea, Arshia Maqbool, Isabelle Schrauwen, Khurram Liaqat, Zubair Ahmed, Sondhya Ghedia, Andrew Green, Ruth Sheffer, Hagar Mor-Shaked, Mathilda Wilding, Robin Hay, Saima Riazuddin, Langping He, Glenda Beaman, Wasim Ahmed, Suzanne Leal, Robert Taylor, Raymond O’Keefe, Robert Morell, Alejandro Schaffer, William Newman, Inna Belyantseva, Sheikh Riazuddin, Thomas Friedman

    Published 2025-01-01
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