Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing von Narravula, Alekhya, Garber, Kathryn B., Askree, S. Hussain, Hegde, Madhuri, Hall, Patricia L.

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Identification of an intronic Alu insertion in the SYNE1 gene associated with autosomal recessive spinocerebellar ataxia type 8 von Gagnon, Maryse, Bouhamdani, Nadia, Kolev, Dimiter P., Askree, S. Hussain, Ben Amor, Mouna

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P751: Challenges in interpretation of RNA-Seq data limit variant reclassification von Askree, S. Hussain, Reott, Michael, Stovall, Kirk, Kolev, Dimiter, Langley, William

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Parent-of-Origin Testing for 15q11-q13 Gains by Quantitative DNA Methylation Analysis von Askree, S. Hussain, Dharamrup, Shika, Hjelm, Lawrence N, Coffee, Bradford

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Detection limit of intragenic deletions with targeted array comparative genomic hybridization von Askree, S Hussain, Chin, Ephrem L H, Bean, Lora H, Coffee, Bradford, Tanner, Alice, Hegde, Madhuri

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Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients von Nallamilli, Babi Ramesh Reddy, Chakravorty, Samya, Kesari, Akanchha, Tanner, Alice, Ankala, Arunkanth, Schneider, Thomas, da Silva, Cristina, Beadling, Randall, Alexander, John J., Askree, Syed Hussain, Whitt, Zachary, Bean, Lora, Collins, Christin, Khadilkar, Satish, Gaitonde, Pradnya, Dastur, Rashna, Wicklund, Matthew, Mozaffar, Tahseen, Harms, Matthew, Rufibach, Laura, Mittal, Plavi, Hegde, Madhuri

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P479: Mosaicism for genome wide homozygosity identified as an incidental finding in two healthy pregnant women von Haskell, Gloria, Askree, Hussain, Kline, Laura, Cabral, Quoc-Huong, Hasadri, Linda, Gadi, Inder, Schwartz, Stuart

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Allelic Dropout Can Cause False-Positive Results for Prader-Willi and Angelman Syndrome Testing von Hussain Askree, Syed, Hjelm, Lawrence N, Ali Pervaiz, Muhammad, Adam, Margaret, Bean, Lora J.H, Hedge, Madhuri, Coffee, Bradford

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