Not logged in Uniparental disomy in a population of 32,067 clinical exome trios Scuffins, Julie; Keller-Ramey, Jennifer; Dyer, Lindsay; Douglas, Ganka; Torene, Rebecca; Gainullin, Vladimir; Juusola, Jane; Meck, Jeanne; Retterer, Kyle Share Save
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants (vol 49, pg 689, 2019) Brandt, Tracy; Sack, Laura M.; Arjona, Dolores; Tan, Duanjun; Mei, Hui; Cui, Hong; Gao, Hua; Bean, Lora J. H.; Ankala, Arunkanth; Del Gaudio, Daniela; Johnson, Amy Knight; Vincent, Lisa M.; Reavey, Caitlin; Lai, Amy; Richard, Gabriele; Meck, Jeanne M. Share Save
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants Brandt, Tracy; Sack, Laura M.; Arjona, Dolores; Tan, Duanjun; Mei, Hui; Cui, Hong; Gao, Hua; Bean, Lora J. H.; Ankala, Arunkanth; Del Gaudio, Daniela; Knight Johnson, Amy; Vincent, Lisa M.; Reavey, Caitlin; Lai, Amy; Richard, Gabriele; Meck, Jeanne M. Share Save
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar Riggs, Erin R.; Nelson, Tristan; Merz, Andrew; Ackley, Todd; Bunke, Brian; Collins, Christin D.; Collinson, Morag N.; Fan, Yao-Shan; Goodenberger, McKinsey L.; Golden, Denae M.; Haglund-Hazy, Linda; Krgovic, Danijela; Lamb, Allen N.; Lewis, Zoe; Li, Guang; Liu, Yajuan; Meck, Jeanne; Neufeld-Kaiser, Whitney; Runke, Cassandra K.; Sanmann, Jennifer N.; Stavropoulos, Dimitri J.; Strong, Emma; Su, Meng; Tayeh, Marwan K.; Vokac, Nadja Kokalj; Thorland, Erik C.; Andersen, Erica; Martin, Christa L. Share Save
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Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort Retterer, Kyle; Scuffins, Julie; Schmidt, Daniel; Lewis, Rachel; Pineda-Alvarez, Daniel; Stafford, Amanda; Schmidt, Lindsay; Warren, Stephanie; Gibellini, Federica; Kondakova, Anastasia; Blair, Amanda; Bale, Sherri; Matyakhina, Ludmila; Meck, Jeanne; Aradhya, Swaroop; Haverfield, Eden Share Save
Increased nuchal translucency and normal karyotype: value of additional testing Lucas, Jaclyn Coletta; Dugan, Elizabeth Kramer; Aggarwal, Vimla; Bale, Sherri; Frayna, Aileen; Hussong, Melanie; Jobanputra, Vaidehi; Richard, Gabi; Vincent, Lisa; Williams, Bradley; Meck, Jeanne; Wapner, Ronald; Levy, Brynn Share Save
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Cooperation of tumor-derived HBx mutants and p53-249ser mutant in regulating cell proliferation, anchorage-independent growth and aneuploidy in a telomerase-immortalized normal human hepatocyte-derived cell line Jiang, Weidong; Wang, Xin Wei; Unger, Tamar; Forgues, Marshonna; Kim, Jin Woo; Hussain, S. Perwez; Bowman, Elise; Spillare, Elisa A.; Lipsky, Michael M.; Meck, Jeanne M.; Cavalli, Luciane R.; Haddad, Bassem R.; Harris, Curtis C. Share Save
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Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations Rosenberg, MJ; Killoran, C; Dziadzio, L; Chang, S; Stone, DL; Meck, J; Aughton, D; Bird, LM; Bodurtha, J; Cassidy, SB; Graham, JM; Grix, A; Guttmacher, AE; Hudgins, L; Kozma, C; Michaelis, RC; Pauli, R; Peters, KF; Rosenbaum, KN; Tifft, CJ; Wargowski, D; Williams, MS; Biesecker, LG Share Save
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