Mutations in NOTCH1 Cause Adams-Oliver Syndrome von Stittrich, Anna-Barbara, Lehman, Anna, Bodian, Dale L., Ashworth, Justin, Zong, Zheyuan, Li, Hong, Lam, Patricia, Khromykh, Alina, Iyer, Ramaswamy K., Vockley, Joseph G., Baveja, Rajiv, Silva, Ermelinda Santos, Dixon, Joanne, Leon, Eyby L., Solomon, Benjamin D., Glusman, Gustavo, Niederhuber, John E., Roach, Jared C., Patel, Millan S.

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Whole-Genome Sequencing of a Healthy Aging Cohort von Erikson, Galina A., Bodian, Dale L., Rueda, Manuel, Molparia, Bhuvan, Scott, Erick R., Scott-Van Zeeland, Ashley A., Topol, Sarah E., Wineinger, Nathan E., Niederhuber, John E., Topol, Eric J., Torkamani, Ali

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing von Bodian, Dale L, McCutcheon, Justine N, Kothiyal, Prachi, Huddleston, Kathi C, Iyer, Ramaswamy K, Vockley, Joseph G, Niederhuber, John E

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New observations on maternal age effect on germline de novo mutations von Wong, Wendy S. W., Solomon, Benjamin D., Bodian, Dale L., Kothiyal, Prachi, Eley, Greg, Huddleston, Kathi C., Baker, Robin, Thach, Dzung C., Iyer, Ramaswamy K., Vockley, Joseph G., Niederhuber, John E.

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Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates von Bodian, Dale L., Klein, Elisabeth, Iyer, Ramaswamy K., Wong, Wendy S.W., Kothiyal, Prachi, Stauffer, Daniel, Huddleston, Kathi C., Gaither, Amber D., Remsburg, Irina, Khromykh, Alina, Baker, Robin L., Maxwell, George L., Vockley, Joseph G., Niederhuber, John E., Solomon, Benjamin D.

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Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn von Pavey, Ashleigh R, Bodian, Dale L, Vilboux, Thierry, Khromykh, Alina, Hauser, Natalie S, Huddleston, Kathi, Klein, Elisabeth, Black, Aaron, Kane, Megan S, Iyer, Ramaswamy K, Niederhuber, John E, Solomon, Benjamin D

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Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships von Bodian, Dale L., Chan, Ting-Fung, Poon, Annie, Schwarze, Ulrike, Yang, Kathleen, Byers, Peter H., Kwok, Pui-Yan, Klein, Teri E.

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Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause von Bodian, Dale L, Vilboux, Thierry, Hauser, Natalie S

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Predicting the Clinical Lethality of Osteogenesis Imperfecta from Collagen Glycine Mutations von Bodian, Dale L, Madhan, Balaraman, Brodsky, Barbara, Klein, Teri E

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Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population von Beck, David B, Bodian, Dale L, Shah, Vandan, Mirshahi, Uyenlinh L, Kim, Jung, Ding, Yi, Magaziner, Samuel J, Strande, Natasha T, Cantor, Anna, Haley, Jeremy S, Cook, Adam, Hill, Wesley, Schwartz, Alan L, Grayson, Peter C, Ferrada, Marcela A, Kastner, Daniel L, Carey, David J, Stewart, Douglas R

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Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome von Solomon, Benjamin D., Bodian, Dale L., Khromykh, Alina, Mora, Gabriela Gomez, Lanpher, Brendan C., Iyer, Ramaswamy K., Baveja, Rajiv, Vockley, Joseph G., Niederhuber, John E.

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Pitfalls of clinical exome and gene panel testing: alternative transcripts von Bodian, Dale L., Kothiyal, Prachi, Hauser, Natalie S.

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Correction to: Pitfalls of clinical exome and gene panel testing: alternative transcripts von Bodian, Dale L., Kothiyal, Prachi, Hauser, Natalie S.

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Cell type-specific gene expression differences in complex tissues von Davis, Mark M, Butte, Atul J, Shen-Orr, Shai S, Tibshirani, Robert, Khatri, Purvesh, Bodian, Dale L, Staedtler, Frank, Perry, Nicholas M, Hastie, Trevor, Sarwal, Minnie M

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Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence von Goldmann, Jakob M., Seplyarskiy, Vladimir B., Wong, Wendy S. W., Vilboux, Thierry, Neerincx, Pieter B., Bodian, Dale L., Solomon, Benjamin D., Veltman, Joris A., Deeken, John F., Gilissen, Christian, Niederhuber, John E.

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Tools for annotation and comparison of structural variation von Sedlazeck, Fritz J, Dhroso, Andi, Bodian, Dale L, Paschall, Justin, Hermes, Farrah, Zook, Justin M

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Genomic and molecular characterization of preterm birth von Knijnenburg, Theo A., Vockley, Joseph G., Chambwe, Nyasha, Gibbs, David L., Humphries, Crystal, Huddleston, Kathi C., Klein, Elisabeth, Kothiyal, Prachi, Tasseff, Ryan, Dhankani, Varsha, Bodian, Dale L., Wong, Wendy S. W., Glusman, Gustavo, Mauldin, Denise E., Miller, Michael, Slagel, Joseph, Elasady, Summer, Roach, Jared C., Kramer, Roger, Leinonen, Kalle, Linthorst, Jasper, Baveja, Rajiv, Baker, Robin, Solomon, Benjamin D., Eley, Greg, Iyer, Ramaswamy K., Maxwell, George L., Bernard, Brady, Shmulevich, Ilya, Hood, Leroy, Niederhuber, John E.

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Identification of copy number variants in whole-genome data using Reference Coverage Profiles von Glusman, Gustavo, Severson, Alissa, Dhankani, Varsha, Robinson, Max, Farrah, Terry, Mauldin, Denise E, Stittrich, Anna B, Ament, Seth A, Roach, Jared C, Brunkow, Mary E, Bodian, Dale L, Vockley, Joseph G, Shmulevich, Ilya, Niederhuber, John E, Hood, Leroy

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Gene-Centric Analysis of Preeclampsia Identifies Maternal Association at PLEKHG1 von Gray, Kathryn J, Kovacheva, Vesela P, Mirzakhani, Hooman, Bjonnes, Andrew C, Almoguera, Berta, DeWan, Andrew T, Triche, Elizabeth W, Saftlas, Audrey F, Hoh, Josephine, Bodian, Dale L, Klein, Elisabeth, Huddleston, Kathi C, Ingles, Sue Ann, Lockwood, Charles J, Hakonarson, Hakon, McElrath, Thomas F, Murray, Jeffrey C, Wilson, Melissa L, Norwitz, Errol R, Karumanchi, S Ananth, Bateman, Brian T, Keating, Brendan J, Saxena, Richa

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Mendelian Inconsistent Signatures from 1314 Ancestrally Diverse Family Trios Distinguish Biological Variation from Sequencing Error von Kothiyal, Prachi, Wong, Wendy S W, Bodian, Dale L, Niederhuber, John E

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