Increasing the diagnostic yield of exome sequencing by copy number variant analysis by Marchuk, Daniel S, Crooks, Kristy, Strande, Natasha, Kaiser-Rogers, Kathleen, Milko, Laura V, Brandt, Alicia, Arreola, Alexandra, Tilley, Christian R, Bizon, Chris, Vora, Neeta L, Wilhelmsen, Kirk C, Evans, James P, Berg, Jonathan S

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Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings by Seifert, Bryce A, O'Daniel, Julianne M, Amin, Krunal, Marchuk, Daniel S, Patel, Nirali M, Parker, Joel S, Hoyle, Alan P, Mose, Lisle E, Marron, Andrew, Hayward, Michele C, Bizon, Christopher, Wilhelmsen, Kirk C, Evans, James P, Earp, 3rd, H Shelton, Sharpless, Norman E, Hayes, D Neil, Berg, Jonathan S

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Co‐occurring Down syndrome and SUCLA2‐related mitochondrial depletion syndrome by Couser, Natario L., Marchuk, Daniel S., Smith, Laurie D., Arreola, Alexandra, Kaiser‐Rogers, Kathleen A., Muenzer, Joseph, Pandya, Arti, Gucsavas‐Calikoglu, Muge, Powell, Cynthia M.

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Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine by Goddard, Katrina A.B., Bernhardt, Barbara A., Biswas, Sawona, Bowling, Kevin M., Caga-anan, Charlisse F., Chinnaiyan, Arul M., Clayton, Ellen W., East, Kelly, Garraway, Levi A., Garrett, Jeremy R., Gray, Stacy W., Hindorff, Lucia A., Lewis, Michelle Huckaby, Hutter, Carolyn M., Janne, Pasi A., Knoppers, Bartha M., Krantz, Ian D., Manolio, Teri A., Nickerson, Deborah A., Ou, Jeffrey, Parsons, Donald W., Petersen, Gloria M., Plon, Sharon E., Rehm, Heidi L., Robinson, Dan, Salama, Joseph S., Scollon, Sarah, Shirts, Brian, Tabor, Holly K., Tarczy-Hornoch, Peter, Appelbaum, Paul S., Arora, Shubhangi, Brothers, Kyle B., Brown, Brian L., Caga-anan, Charlisse F., Calikoglu, Muge G., Christensen, Kurt D., Cirino, Allison L., Conlin, Laura K., Crosslin, David R., Davis, James V., Dorschner, Michael O., Dugan, Noreen P., Exe, Nicole, Fishler, Kristen, Ghrundmeier, Bob, Gordon, Adam S., Gray, David E., Gray, Stacy W., Gutierrez, Amanda M., Hensman, Naomi, Hiatt, Susan M., Himes, Patricia, Horike-Pyne, Martha J., Hull, Sara, Jensen, Brian C., Joffe, Steve, Kaufman, Dave, Kim, Jerry H., Klein, William, Lambert, Michele P., Leo, Michael C., Lewis, Katie, Lonigro, Bob, Machini, Kalotina, Manolio, Teri A., McCullough, Laurence, McMullen, Carmit, Mooney, Sean D., Moore, Elizabeth G., Muzny, Donna, Ng, David, Nickerson, Deborah A., Oliver, Nelly M., Parsons, Will, Plon, Sharon, Powell, Bradford C., Raesz-Martinez, Robin A., Raskind, Wendy H., Rehm, Heidi L., Reiss, Jacob A., Robertson, Peggy D., Robinson, Dan, Salama, Joseph, Scarano, Maria I., Sholl, Lynette M., Silverman, Elian, Simmons, Shirley, Spinner, Nancy B., Stoffel, Elena, Tilley, Christian R., Trinidad, Susan, Ubel, Peter, Vassy, Jason L., Vries, Raymond D., Weck, Karen, Wolf, Susan M., Wynn, Julia, Yu, Joon-Ho, Zikmund-Fisher, Brian J.

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Cerebral Cavernous Malformations Develop Through Clonal Expansion of Mutant Endothelial Cells by Detter, Matthew R, Snellings, Daniel A, Marchuk, Douglas A

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Cerebral Cavernous Malformation: From Mechanism to Therapy by Snellings, Daniel A., Hong, Courtney C., Ren, Aileen A., Lopez-Ramirez, Miguel A., Girard, Romuald, Srinath, Abhinav, Marchuk, Douglas A., Ginsberg, Mark H., Awad, Issam A., Kahn, Mark L.

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Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1 by Snellings, Daniel A., Gallione, Carol J., Clark, Dewi S., Vozoris, Nicholas T., Faughnan, Marie E., Marchuk, Douglas A.

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Single-nucleus DNA sequencing reveals hidden somatic loss-of-heterozygosity in Cerebral Cavernous Malformations by Ressler, Andrew K., Snellings, Daniel A., Girard, Romuald, Gallione, Carol J., Lightle, Rhonda, Allen, Andrew S., Awad, Issam A., Marchuk, Douglas A.

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PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism by Ren, Aileen A., Snellings, Daniel A., Su, Yourong S., Hong, Courtney C., Castro, Marco, Tang, Alan T., Detter, Matthew R., Hobson, Nicholas, Girard, Romuald, Romanos, Sharbel, Lightle, Rhonda, Moore, Thomas, Shenkar, Robert, Benavides, Christian, Beaman, M. Makenzie, Müller-Fielitz, Helge, Chen, Mei, Mericko, Patricia, Yang, Jisheng, Sung, Derek C., Lawton, Michael T., Ruppert, J. Michael, Schwaninger, Markus, Körbelin, Jakob, Potente, Michael, Awad, Issam A., Marchuk, Douglas A., Kahn, Mark L.

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Multicenter Research Data of Epilepsy Management in Patients With Sturge-Weber Syndrome by Smegal, Lindsay F., Sebold, Alison J., Hammill, Adrienne M., Juhász, Csaba, Lo, Warren D., Miles, Daniel K., Wilfong, Angus A., Levin, Alex V., Fisher, Brian, Ball, Karen L., Pinto, Anna L., Comi, Anne M., Koenig, Jim I., Lawton, Michael T., Marchuk, Douglas A., Moses, Marsha A., Freedman, Sharon F., Pevsner, Jonathan

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Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome by Day, Alyssa M., McCulloch, Charles E., Hammill, Adrienne M., Juhász, Csaba, Lo, Warren D., Pinto, Anna L., Miles, Daniel K., Fisher, Brian J., Ball, Karen L., Wilfong, Angus A., Levin, Alex V., Thau, Avrey J., Comi, Anne M., Koenig, Jim I., Lawton, Michael T., Marchuk, Douglas A., Moses, Marsha A., Freedman, Sharon F., Pevsner, Jonathan

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Hypothesis: Presymptomatic treatment of Sturge-Weber Syndrome With Aspirin and Antiepileptic Drugs May Delay Seizure Onset by Day, Alyssa M., Hammill, Adrienne M., Juhász, Csaba, Pinto, Anna L., Roach, E. Steve, McCulloch, Charles E., Comi, Anne M., Ball, Karen L., Fisher, Brian J., Koenig, Jim I., Lawton, Michael T., Lo, Warren D., Marchuk, Douglas A., Miles, Daniel K., Moses, Marsha A., Wilfong, Angus A.

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Circulating Plasma miRNA Homologs in Mice and Humans Reflect Familial Cerebral Cavernous Malformation Disease by Romanos, Sharbel G., Srinath, Abhinav, Li, Ying, Xie, Bingqing, Chen, Chang, Li, Yan, Moore, Thomas, Bi, Dehua, Sone, Je Yeong, Lightle, Rhonda, Hobson, Nick, Zhang, Dongdong, Koskimäki, Janne, Shen, Le, McCurdy, Sara, Lai, Catherine Chinhchu, Stadnik, Agnieszka, Piedad, Kristina, Carrión-Penagos, Julián, Shkoukani, Abdallah, Snellings, Daniel, Shenkar, Robert, Sulakhe, Dinanath, Ji, Yuan, Lopez-Ramirez, Miguel A., Kahn, Mark L., Marchuk, Douglas A., Ginsberg, Mark H., Girard, Romuald, Awad, Issam A.

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Transcriptome clarifies mechanisms of lesion genesis versus progression in models of Ccm3 cerebral cavernous malformations by Koskimäki, Janne, Zhang, Dongdong, Li, Yan, Saadat, Laleh, Moore, Thomas, Lightle, Rhonda, Polster, Sean P, Carrión-Penagos, Julián, Lyne, Seán B, Zeineddine, Hussein A, Shi, Changbin, Shenkar, Robert, Romanos, Sharbel, Avner, Kenneth, Srinath, Abhinav, Shen, Le, Detter, Matthew R, Snellings, Daniel, Cao, Ying, Lopez-Ramirez, Miguel A, Fonseca, Gregory, Tang, Alan T, Faber, Pieter, Andrade, Jorge, Ginsberg, Mark, Kahn, Mark L, Marchuk, Douglas A, Girard, Romuald, Awad, Issam A

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Abstract TMP1: Multi-omic Biomarker Development In A Mendelian Neurovascular Disease, Cavernous Angioma by Srinath, Abhinav, Romanos, Sharbel, Li, Ying, Xie, Bingqing, Chen, Chang, Moore, Thomas, Lightle, Rhonda, DeBiasse, Dorothy, Sone, Je Yeong Y, Shen, Le, McCurdy, Sara G, Lai, Catherine, Stadnik, Agnieszka, Piedad, Kristina, Dorrestein, Pieter, Weldon, Kelly, Snellings, Daniel, Shenkar, Robert, Gilbert, Jack, D'Souza, Mark, Sulakhe, Dinanath, Ji, Yuan, Lopez-ramirez, Miguel A, Kahn, Mark L, Marchuk, Douglas A, Ginsberg, Mark H, Girard, Romuald, Awad, Issam A

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Quality of Life in Children With Sturge-Weber Syndrome by Harmon, Kelly A., Day, Alyssa M., Hammill, Adrienne M., Pinto, Anna L., McCulloch, Charles E., Comi, Anne M., Ball, Karen L., Fisher, Brian J., Juhász, Csaba, Kim, Helen, Koenig, Jim, Lawton, Michael T., Lo, Warren D., Marchuk, Douglas A., Miles, Daniel K., Moses, Marsha A., Pevsner, Jonathan, Roach, E. Steve, Wilfong, Angus A.

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Reliability and Clinical Correlation of Transcranial Doppler Ultrasound in Sturge-Weber syndrome by Offermann, Elizabeth A, Sreenivasan, Aditya, DeJong, M. Robert, Lin, Doris D.M, McCulloch, Charles E, Chung, Melissa G, Comi, Anne M

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CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations by Verlaan, Dominique J., Laurent, Sandra B., Rochefort, Daniel L., Liquori, Christina L., Marchuk, Douglas A., Siegel, Adrian M., Rouleau, Guy A.

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Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles by Gallione, Carol J., Klaus, Daniel J., Yeh, Eric Y., Stenzel, Timothy T., Xue, Yan, Anthony, Kara B., McAllister, Kimberly A., Baldwin, Melanie A., Berg, Jonathan N., Lux, Andreas, Smith, Joshua D., Vary, Calvin P. H., Craigen, William J., Westermann, CJJ, Warner, Mary L., Miller, York E., Jackson, C. Eugene, Guttmacher, Alan E., Marchuk, Douglas A.

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COL5a1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers—Danlos... by Greenspan, Daniel S., Northrup, Hope, Au, Kit-Sing, McAllister, Kimberly A., Francomano, Clair A., Wenstrup, Richard J., Marchuk, Douglas A., Kwiatkowski, David J.

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