P025: Newborn screening predicts phenotype conversion and developmental outcome in hyperphenylalaninemia by Aaron Williams, Kristian Divin, Lindsay Burrage, Fernando Scaglia, William Craigen, Vernon Sutton, Claudia Soler-Alfonso, Kevin Glinton, Ronit Marom

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P007: A case series and functional study of two commonly reported pathogenic variants in OTC supports a hypomorphic classification by Steven Lang, Russell Lo, Gareth Cromie, Aimée Dudley, Nicholas Ah Mew, Vernon Sutton, Sandra Darilek, Saima Ali, Matthew Snyder, Brendan Lee, Ronit Marom, Sandesh Nagamani, Lindsay Burrage

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11: To remap or not to remap: the relevance of the genome references to resolve rare inversions by Claudia M.B. Carvalho, Kristine Bilgrav Saether, Jesse Bengtsson, Jesper Eisfeldt, Ming Yin Lun, Jakob Schuy, Medhat Mahmoud, Christopher M. Grochowski, Davut Pehlivan, Fritz J. Sedlazeck, Jill A. Rosenfeld, Pengfei Liu, Weimin Bi, Ronit Marom, Anna Lindstrand

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P460: Case series of Nizon-Isidor syndrome by heterozygous variants in MED12L with one case generating chromosomal instability through diploid-triploid mosaicism by Russell Stewart, Kimberly Ezell, Brian Corner, Ashley McMinn, Joy Cogan, Rizwan Hamid, Lynette Rives, John Phillips, Nina Paddu, Gitanjali Srivastava, Ronit Marom, Farah Ladha, Claudia Soler-Alfonso, Rachel Franciskovich, Mary Koziura, Deanna Bell, Sumit Pruthi, Thomas Cassini

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