The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine von Biesecker, Leslie G, Mullikin, James C, Facio, Flavia M, Turner, Clesson, Cherukuri, Praveen F, Blakesley, Robert W, Bouffard, Gerard G, Chines, Peter S, Cruz, Pedro, Hansen, Nancy F, Teer, Jamie K, Maskeri, Baishali, Young, Alice C, Manolio, Teri A, Wilson, Alexander F, Finkel, Toren, Hwang, Paul, Arai, Andrew, Remaley, Alan T, Sachdev, Vandana, Shamburek, Robert, Cannon, Richard O, Green, Eric D

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Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p von Gunay-Aygun, Meral, Zivony-Elboum, Yifat, Gumruk, Fatma, Geiger, Dan, Cetin, Mualla, Khayat, Morad, Kleta, Robert, Kfir, Nehama, Anikster, Yair, Chezar, Judith, Arcos-Burgos, Mauricio, Shalata, Adel, Stanescu, Horia, Manaster, Joseph, Arat, Mutlu, Edwards, Hailey, Freiberg, Andrew S., Hart, P. Suzanne, Riney, Lauren C., Patzel, Katherine, Tanpaiboon, Pranoot, Markello, Tom, Huizing, Marjan, Maric, Irina, Horne, McDonald, Kehrel, Beate E., Jurk, Kerstin, Hansen, Nancy F., Cherukuri, Praveen F., Jones, Marypat, Cruz, Pedro, Mullikin, Jim C., Nurden, Alan, White, James G., Gahl, William A., Falik-Zaccai, Tzippora

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Genome-wide ChIP-Seq reveals a dramatic shift in the binding of the transcription factor erythroid Kruppel-like factor during erythrocyte differentiation von Pilon, Andre M., Ajay, Subramanian S., Kumar, Swathi Ashok, Steiner, Laurie A., Cherukuri, Praveen F., Wincovitch, Stephen, Anderson, Stacie M., Mullikin, James C., Gallagher, Patrick G., Hardison, Ross C., Margulies, Elliott H., Bodine, David M.

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Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets von Cherukuri, Praveen F, Soe, Melissa M, Condon, David E, Bartaria, Shubhi, Meis, Kaitlynn, Gu, Shaopeng, Frost, Frederick G, Fricke, Lindsay M, Lubieniecki, Krzysztof P, Lubieniecka, Joanna M, Pyatt, Robert E, Hajek, Catherine, Boerkoel, Cornelius F, Carmichael, Lynn

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Gene-based sequencing identifies lipid-influencing variants with ethnicity-specific effects in African Americans von Bentley, Amy R, Chen, Guanjie, Shriner, Daniel, Doumatey, Ayo P, Zhou, Jie, Huang, Hanxia, Mullikin, James C, Blakesley, Robert W, Hansen, Nancy F, Bouffard, Gerard G, Cherukuri, Praveen F, Maskeri, Baishali, Young, Alice C, Adeyemo, Adebowale, Rotimi, Charles N

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Pan‐cancer RNA‐seq data stratifies tumours by some hallmarks of cancer von Frost, F. Graeme, Cherukuri, Praveen F., Milanovich, Samuel, Boerkoel, Cornelius F.

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Sequencing of candidate chromosome instability genes in endometrial cancers reveals somatic mutations in ESCO1, CHTF18, and MRE11A von Price, Jessica C, Pollock, Lana M, Rudd, Meghan L, Fogoros, Sarah K, Mohamed, Hassan, Hanigan, Christin L, Le Gallo, Matthieu, Zhang, Suiyuan, Cruz, Pedro, Cherukuri, Praveen F, Hansen, Nancy F, McManus, Kirk J, Godwin, Andrew K, Sgroi, Dennis C, Mullikin, James C, Merino, Maria J, Hieter, Philip, Bell, Daphne W

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Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) von Pierson, Tyler Mark, Markello, Thomas, Accardi, John, Wolfe, Lynne, Adams, David, Sincan, Murat, Tarazi, Noor M, Fajardo, Karin Fuentes, Cherukuri, Praveen F, Bajraktari, Ilda, Meilleur, Katy G, Donkervoort, Sandra, Jain, Mina, Hu, Ying, Lehky, Tanya J, Cruz, Pedro, Mullikin, James C, Bonnemann, Carsten, Gahl, William A, Boerkoel, Cornelius F, Tifft, Cynthia J

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Predicting protein domain interactions from coevolution of conserved regions von Kann, Maricel G., Jothi, Raja, Cherukuri, Praveen F., Przytycka, Teresa M.

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Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases von Pierson, Tyler Mark, Adams, David, Bonn, Florian, Martinelli, Paola, Cherukuri, Praveen F, Teer, Jamie K, Hansen, Nancy F, Cruz, Pedro, Mullikin For The Nisc Comparative Sequencing Program, James C, Blakesley, Robert W, Golas, Gretchen, Kwan, Justin, Sandler, Anthony, Fuentes Fajardo, Karin, Markello, Thomas, Tifft, Cynthia, Blackstone, Craig, Rugarli, Elena I, Langer, Thomas, Gahl, William A, Toro, Camilo

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Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 as the Gene that Causes a Syndromic Form of Cleft Palate von Johnston, Jennifer J., Teer, Jamie K., Cherukuri, Praveen F., Hansen, Nancy F., Loftus, Stacie K., Chong, Karen, Mullikin, James C., Biesecker, Leslie G.

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Exon capture analysis of G protein-coupled receptors identifies activating mutations in GRM3 in melanoma von Samuels, Yardena, Prickett, Todd D, Wei, Xiaomu, Cardenas-Navia, Isabel, Teer, Jamie K, Lin, Jimmy C, Walia, Vijay, Gartner, Jared, Jiang, Jiji, Cherukuri, Praveen F, Molinolo, Alfredo, Davies, Michael A, Gershenwald, Jeffrey E, Stemke-Hale, Katherine, Rosenberg, Steven A, Margulies, Elliott H

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CDD: a Conserved Domain Database for protein classification von Marchler-Bauer, Aron, Anderson, John B., Cherukuri, Praveen F., DeWeese-Scott, Carol, Geer, Lewis Y., Gwadz, Marc, He, Siqian, Hurwitz, David I., Jackson, John D., Ke, Zhaoxi, Lanczycki, Christopher J., Liebert, Cynthia A., Liu, Chunlei, Lu, Fu, Marchler, Gabriele H., Mullokandov, Mikhail, Shoemaker, Benjamin A., Simonyan, Vahan, Song, James S., Thiessen, Paul A., Yamashita, Roxanne A., Yin, Jodie J., Zhang, Dachuan, Bryant, Stephen H.

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Co-evolutionary Analysis of Domains in Interacting Proteins Reveals Insights into Domain–Domain Interactions Mediating Protein–Protein Interactions von Jothi, Raja, Cherukuri, Praveen F., Tasneem, Asba, Przytycka, Teresa M.

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Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy von McLaughlin, Heather M., Sakaguchi, Reiko, Liu, Cuiping, Igarashi, Takao, Pehlivan, Davut, Chu, Kristine, Iyer, Ram, Cruz, Pedro, Cherukuri, Praveen F., Hansen, Nancy F., Mullikin, James C., Biesecker, Leslie G., Wilson, Thomas E., Ionasescu, Victor, Nicholson, Garth, Searby, Charles, Talbot, Kevin, Vance, Jeffrey M., Züchner, Stephan, Szigeti, Kinga, Lupski, James R., Hou, Ya-Ming, Green, Eric D., Antonellis, Anthony

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Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz–Jeghers syndrome? von Gazzaz, Nour, Frost, F. Graeme, Alderman, Emily, Richmond, Phillip A., Dalmann, Joshua, Lin, Susan, Salman, Areesha, Del Bel, Kate L., Lehman, Anna, Turvey, Stuart E., Boerkoel, Cornelius F., Cherukuri, Praveen F.

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Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase- associated neurodegeneration von TYLER MARK PIERSON, SIMEONOV, Dimitre R, MULLIKIN, James C, BLACKSTONE, Craig, TIFFT, Cynthia, BOERKOEL, Cornelius F, GAHL, William A, SINCAN, Murat, ADAMS, David A, MARKELLO, Thomas, GOLAS, Gretchen, FUENTES-FAJARDO, Karin, HANSEN, Nancy F, CHERUKURI, Praveen F, CRUZ, Pedro

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Predisposition to cancer caused by genetic and functional defects of mammalian Atad5 von Bell, Daphne W, Sikdar, Nilabja, Lee, Kyoo-Young, Price, Jessica C, Chatterjee, Raghunath, Park, Hee-Dong, Fox, Jennifer, Ishiai, Masamichi, Rudd, Meghan L, Pollock, Lana M, Fogoros, Sarah K, Mohamed, Hassan, Hanigan, Christin L, Zhang, Suiyuan, Cruz, Pedro, Renaud, Gabriel, Hansen, Nancy F, Cherukuri, Praveen F, Borate, Bhavesh, McManus, Kirk J, Stoepel, Jan, Sipahimalani, Payal, Godwin, Andrew K, Sgroi, Dennis C, Merino, Maria J, Elliot, Gene, Elkahloun, Abdel, Vinson, Charles, Takata, Minoru, Mullikin, James C, Wolfsberg, Tyra G, Hieter, Philip, Lim, Dae-Sik, Myung, Kyungjae

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Incidental medical information in whole-exome sequencing von Solomon, Benjamin D, Hadley, Donald W, Pineda-Alvarez, Daniel E, Kamat, Aparna, Teer, Jamie K, Cherukuri, Praveen F, Hansen, Nancy F, Cruz, Pedro, Young, Alice C, Berkman, Benjamin E, Chandrasekharappa, Settara C, Mullikin, James C

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Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability von Maduro, Valerie, Pusey, Barbara N, Cherukuri, Praveen F, Atkins, Paul, du Souich, Christèle, Rupps, Rosemarie, Limbos, Marjolaine, Adams, David R, Bhatt, Samarth S, Eydoux, Patrice, Links, Amanda E, Lehman, Anna, Malicdan, May C, Mason, Christopher E, Morimoto, Marie, Mullikin, James C, Sear, Andrew, Van Karnebeek, Clara, Stankiewicz, Pawel, Gahl, William A, Toro, Camilo, Boerkoel, Cornelius F

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