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517 results on '"Koboldt, Daniel C."'

3. MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

Author

Gong, Maolei, Li, Jiayi, Qin, Zailong, Machado Bressan Wilke, Matheus Vernet, Liu, Yijun, Li, Qian, Liu, Haoran, Liang, Chen, Morales-Rosado, Joel A., Cohen, Ana S.A., Hughes, Susan S., Sullivan, Bonnie R., Waddell, Valerie, van den Boogaard, Marie-José H., van Jaarsveld, Richard H., van Binsbergen, Ellen, van Gassen, Koen L., Wang, Tianyun, Hiatt, Susan M., Amaral, Michelle D., Kelley, Whitley V., Zhao, Jianbo, Feng, Weixing, Ren, Changhong, Yu, Yazhen, Boczek, Nicole J., Ferber, Matthew J., Lahner, Carrie, Elliott, Sherr, Ruan, Yiyan, Mignot, Cyril, Keren, Boris, Xie, Hua, Wang, Xiaoyan, Popp, Bernt, Zweier, Christiane, Piard, Juliette, Coubes, Christine, Mau-Them, Frederic Tran, Safraou, Hana, Innes, A. Micheil, Gauthier, Julie, Michaud, Jacques L., Koboldt, Daniel C., Sylvie, Odent, Willems, Marjolaine, Tan, Wen-Hann, Cogne, Benjamin, Rieubland, Claudine, Braun, Dominique, McLean, Scott Douglas, Platzer, Konrad, Zacher, Pia, Oppermann, Henry, Evenepoel, Lucie, Blanc, Pierre, El Khattabi, Laïla, Haque, Neshatul, Dsouza, Nikita R., Zimmermann, Michael T., Urrutia, Raul, Klee, Eric W., Shen, Yiping, Du, Hongzhen, Rappaport, Leonard, Liu, Chang-Mei, and Chen, Xiaoli

Published
2024
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4. Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy

Author

Miller, Katherine E., Rivaldi, Adithe C., Shinagawa, Noriyuki, Sran, Sahib, Navarro, Jason B., Westfall, Jesse J., Miller, Anthony R., Roberts, Ryan D., Akkari, Yassmine, Supinger, Rachel, Hester, Mark E., Marhabaie, Mohammad, Gade, Meethila, Lu, Jinfeng, Rodziyevska, Olga, Bhattacharjee, Meenakshi B., Von Allmen, Gretchen K., Yang, Edward, Lidov, Hart G. W., Harini, Chellamani, Shah, Manish N., Leonard, Jeffrey, Pindrik, Jonathan, Shaikhouni, Ammar, Goldman, James E., Pierson, Christopher R., Thomas, Diana L., Boué, Daniel R., Ostendorf, Adam P., Mardis, Elaine R., Poduri, Annapurna, Koboldt, Daniel C., Heinzen, Erin L., and Bedrosian, Tracy A.

Published
2023
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5. Expanding the phenotypic and molecular spectrum of NFS1‐related disorders that cause functional deficiencies in mitochondrial and cytosolic iron–sulfur cluster containing enzymes

Author

Yang, Jennifer H, Friederich, Marisa W, Ellsworth, Katarzyna A, Frederick, Aliya, Foreman, Emily, Malicki, Denise, Dimmock, David, Lenberg, Jerica, Prasad, Chitra, Yu, Andrea C, Rupar, C Anthony, Hegele, Robert A, Manickam, Kandamurugu, Koboldt, Daniel C, Crist, Erin, Choi, Samantha S, Farhan, Sali MK, Harvey, Helen, Sattar, Shifteh, Karp, Natalya, Wong, Terence, Haas, Richard, Van Hove, Johan LK, and Wigby, Kristen

Subjects
Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Pediatric, Genetics, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Carbon-Sulfur Lyases, Electron Transport Complex I, Humans, Iron, Iron-Sulfur Proteins, Mitochondria, Mitochondrial Proteins, Sulfur, Young Adult, iron-sulfur clusteropathies, lactic acidosis, mitochondrial, NFS1, pediatric, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract

Iron-sulfur cluster proteins are involved in critical functions for gene expression regulation and mitochondrial bioenergetics including the oxidative phosphorylation system. The c.215G>A p.(Arg72Gln) variant in NFS1 has been previously reported to cause infantile mitochondrial complex II and III deficiency. We describe three additional unrelated patients with the same missense variant. Two infants with the same homozygous variant presented with hypotonia, weakness and lactic acidosis, and one patient with compound heterozygous p.(Arg72Gln) and p.(Arg412His) variants presented as a young adult with gastrointestinal symptoms and fatigue. Skeletal muscle biopsy from patients 1 and 3 showed abnormal mitochondrial morphology, and functional analyses demonstrated decreased activity in respiratory chain complex II and variably in complexes I and III. We found decreased mitochondrial and cytosolic aconitase activities but only mildly affected lipoylation of pyruvate dehydrogenase and 2-oxoglutarate dehydrogenase enzymes. Our studies expand the phenotypic spectrum and provide further evidence for the pathogenicity and functional sequelae of NFS1-related disorders with disturbances in both mitochondrial and cytosolic iron-sulfur cluster containing enzymes.

Published
2022

6. Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation

Author

Bhat, Shreyas, Rousseau, Justine, Michaud, Coralie, Lourenço, Charles Marques, Stoler, Joan M., Louie, Raymond J., Clarkson, Lola K., Lichty, Angie, Koboldt, Daniel C., Reshmi, Shalini C., Sisodiya, Sanjay M., Hoytema van Konijnenburg, Eva M.M., Koop, Klaas, van Hasselt, Peter M., Démurger, Florence, Dubourg, Christèle, Sullivan, Bonnie R., Hughes, Susan S., Thiffault, Isabelle, Tremblay, Elisabeth Simard, Accogli, Andrea, Srour, Myriam, Blunck, Rikard, and Campeau, Philippe M.

Published
2024
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8. Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.

Author

Cogné, Benjamin, Latypova, Xenia, Senaratne, Lokuliyanage Dona Samudita, Martin, Ludovic, Koboldt, Daniel C, Kellaris, Georgios, Fievet, Lorraine, Le Meur, Guylène, Caldari, Dominique, Debray, Dominique, Nizon, Mathilde, Frengen, Eirik, Bowne, Sara J, 99 Lives Consortium, Cadena, Elizabeth L, Daiger, Stephen P, Bujakowska, Kinga M, Pierce, Eric A, Gorin, Michael, Katsanis, Nicholas, Bézieau, Stéphane, Petersen-Jones, Simon M, Occelli, Laurence M, Lyons, Leslie A, Legeai-Mallet, Laurence, Sullivan, Lori S, Davis, Erica E, and Isidor, Bertrand

Subjects
Lives Consortium, Retina, Cilia, Animals, Zebrafish, Cats, Humans, Rhodopsin, Pedigree, Amino Acid Sequence, Larva, Heterozygote, Genes, Dominant, Phenotype, Mutation, Middle Aged, Child, Preschool, Female, Male, Photoreceptor Cells, Genome-Wide Association Study, Young Adult, Ciliopathies, Kinesins, KIF3B, feline genetics, hepatic fibrosis, kinesin, primary cilia, retinopathy, whole-exome sequencing, zebrafish, Neurosciences, Clinical Research, Genetics, Pediatric, Polycystic Kidney Disease, Eye Disease and Disorders of Vision, Congenital Structural Anomalies, Neurodegenerative, Kidney Disease, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Eye, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Kinesin-2 enables ciliary assembly and maintenance as an anterograde intraflagellar transport (IFT) motor. Molecular motor activity is driven by a heterotrimeric complex comprised of KIF3A and KIF3B or KIF3C plus one non-motor subunit, KIFAP3. Using exome sequencing, we identified heterozygous KIF3B variants in two unrelated families with hallmark ciliopathy phenotypes. In the first family, the proband presents with hepatic fibrosis, retinitis pigmentosa, and postaxial polydactyly; he harbors a de novo c.748G>C (p.Glu250Gln) variant affecting the kinesin motor domain encoded by KIF3B. The second family is a six-generation pedigree affected predominantly by retinitis pigmentosa. Affected individuals carry a heterozygous c.1568T>C (p.Leu523Pro) KIF3B variant segregating in an autosomal-dominant pattern. We observed a significant increase in primary cilia length in vitro in the context of either of the two mutations while variant KIF3B proteins retained stability indistinguishable from wild type. Furthermore, we tested the effects of KIF3B mutant mRNA expression in the developing zebrafish retina. In the presence of either missense variant, rhodopsin was sequestered to the photoreceptor rod inner segment layer with a concomitant increase in photoreceptor cilia length. Notably, impaired rhodopsin trafficking is also characteristic of recessive KIF3B models as exemplified by an early-onset, autosomal-recessive, progressive retinal degeneration in Bengal cats; we identified a c.1000G>A (p.Ala334Thr) KIF3B variant by genome-wide association study and whole-genome sequencing. Together, our genetic, cell-based, and in vivo modeling data delineate an autosomal-dominant syndromic retinal ciliopathy in humans and suggest that multiple KIF3B pathomechanisms can impair kinesin-driven ciliary transport in the photoreceptor.

Published
2020

9. Dominant-negative variants in CBX1 cause a neurodevelopmental disorder

Author

Kuroda, Yukiko, Iwata-Otsubo, Aiko, Dias, Kerith-Rae, Temple, Suzanna E.L., Nagao, Koji, De Hayr, Lachlan, Zhu, Ying, Isobe, Shin-Ya, Nishibuchi, Gohei, Fiordaliso, Sarah K., Fujita, Yuki, Rippert, Alyssa L., Baker, Samuel W., Leung, Marco L., Koboldt, Daniel C., Harman, Adele, Keena, Beth A., Kazama, Izumi, Subramanian, Gopinath Musuwadi, Manickam, Kandamurugu, Schmalz, Betsy, Latsko, Maeson, Zackai, Elaine H., Edwards, Matt, Evans, Carey-Anne, Dulik, Matthew C., Buckley, Michael F., Yamashita, Toshihide, O'Brien, W. Timothy, Harvey, Robert J., Obuse, Chikashi, Roscioli, Tony, and Izumi, Kosuke

Published
2023
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10. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Author

Johnson, Brett V, Kumar, Raman, Oishi, Sabrina, Alexander, Suzy, Kasherman, Maria, Vega, Michelle Sanchez, Ivancevic, Atma, Gardner, Alison, Domingo, Deepti, Corbett, Mark, Parnell, Euan, Yoon, Sehyoun, Oh, Tracey, Lines, Matthew, Lefroy, Henrietta, Kini, Usha, Van Allen, Margot, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Bézieau, Stéphane, Pasquier, Laurent, Raynaud, Martine, Afenjar, Alexandra, Billette de Villemeur, Thierry, Keren, Boris, Désir, Julie, Van Maldergem, Lionel, Marangoni, Martina, Dikow, Nicola, Koolen, David A, VanHasselt, Peter M, Weiss, Marjan, Zwijnenburg, Petra, Sa, Joaquim, Reis, Claudia Falcao, López-Otín, Carlos, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Rauch, Anita, Steindl, Katharina, Joset, Pascal, Goldstein, Amy, Madan-Khetarpal, Suneeta, Infante, Elena, Zackai, Elaine, Mcdougall, Carey, Narayanan, Vinodh, Ramsey, Keri, Mercimek-Andrews, Saadet, Pena, Loren, Shashi, Vandana, Undiagnosed Diseases Network, Schoch, Kelly, Sullivan, Jennifer A, Pinto E Vairo, Filippo, Pichurin, Pavel N, Ewing, Sarah A, Barnett, Sarah S, Klee, Eric W, Perry, M Scott, Koenig, Mary Kay, Keegan, Catherine E, Schuette, Jane L, Asher, Stephanie, Perilla-Young, Yezmin, Smith, Laurie D, Rosenfeld, Jill A, Bhoj, Elizabeth, Kaplan, Paige, Li, Dong, Oegema, Renske, van Binsbergen, Ellen, van der Zwaag, Bert, Smeland, Marie Falkenberg, Cutcutache, Ioana, Page, Matthew, Armstrong, Martin, Lin, Angela E, Steeves, Marcie A, Hollander, Nicolette den, Hoffer, Mariëtte JV, Reijnders, Margot RF, Demirdas, Serwet, Koboldt, Daniel C, Bartholomew, Dennis, Mosher, Theresa Mihalic, Hickey, Scott E, Shieh, Christine, Sanchez-Lara, Pedro A, Graham, John M, Tezcan, Kamer, Schaefer, GB, Danylchuk, Noelle R, Asamoah, Alexander, Jackson, Kelly E, Yachelevich, Naomi, Au, Margaret, Pérez-Jurado, Luis A, and Kleefstra, Tjitske

Subjects
Undiagnosed Diseases Network, Animals, Humans, Mice, Ubiquitin Thiolesterase, Transforming Growth Factor beta, Developmental Disabilities, Signal Transduction, Phenotype, Female, Male, Haploinsufficiency, Intellectual Disability, Brain malformation, Deubiquitylating enzyme, Hippocampus, Neurodevelopmental disorder, TGFβ, USP9X, Congenital Structural Anomalies, Genetics, Neurosciences, Pediatric, Mental Health, Behavioral and Social Science, Brain Disorders, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Neurological, TGF beta, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry
Abstract

BackgroundThe X-chromosome gene USP9X encodes a deubiquitylating enzyme that has been associated with neurodevelopmental disorders primarily in female subjects. USP9X escapes X inactivation, and in female subjects de novo heterozygous copy number loss or truncating mutations cause haploinsufficiency culminating in a recognizable syndrome with intellectual disability and signature brain and congenital abnormalities. In contrast, the involvement of USP9X in male neurodevelopmental disorders remains tentative.MethodsWe used clinically recommended guidelines to collect and interrogate the pathogenicity of 44 USP9X variants associated with neurodevelopmental disorders in males. Functional studies in patient-derived cell lines and mice were used to determine mechanisms of pathology.ResultsTwelve missense variants showed strong evidence of pathogenicity. We define a characteristic phenotype of the central nervous system (white matter disturbances, thin corpus callosum, and widened ventricles); global delay with significant alteration of speech, language, and behavior; hypotonia; joint hypermobility; visual system defects; and other common congenital and dysmorphic features. Comparison of in silico and phenotypical features align additional variants of unknown significance with likely pathogenicity. In support of partial loss-of-function mechanisms, using patient-derived cell lines, we show loss of only specific USP9X substrates that regulate neurodevelopmental signaling pathways and a united defect in transforming growth factor β signaling. In addition, we find correlates of the male phenotype in Usp9x brain-specific knockout mice, and further resolve loss of hippocampal-dependent learning and memory.ConclusionsOur data demonstrate the involvement of USP9X variants in a distinctive neurodevelopmental and behavioral syndrome in male subjects and identify plausible mechanisms of pathogenesis centered on disrupted transforming growth factor β signaling and hippocampal function.

Published
2020

11. Exome sequencing of Finnish isolates enhances rare-variant association power

Author

Locke, Adam E, Steinberg, Karyn Meltz, Chiang, Charleston WK, Service, Susan K, Havulinna, Aki S, Stell, Laurel, Pirinen, Matti, Abel, Haley J, Chiang, Colby C, Fulton, Robert S, Jackson, Anne U, Kang, Chul Joo, Kanchi, Krishna L, Koboldt, Daniel C, Larson, David E, Nelson, Joanne, Nicholas, Thomas J, Pietilä, Arto, Ramensky, Vasily, Ray, Debashree, Scott, Laura J, Stringham, Heather M, Vangipurapu, Jagadish, Welch, Ryan, Yajnik, Pranav, Yin, Xianyong, Eriksson, Johan G, Ala-Korpela, Mika, Järvelin, Marjo-Riitta, Männikkö, Minna, Laivuori, Hannele, Dutcher, Susan K, Stitziel, Nathan O, Wilson, Richard K, Hall, Ira M, Sabatti, Chiara, Palotie, Aarno, Salomaa, Veikko, Laakso, Markku, Ripatti, Samuli, Boehnke, Michael, and Freimer, Nelson B

Subjects
Medical Biochemistry and Metabolomics, Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Alleles, Cholesterol, HDL, Cluster Analysis, Endpoint Determination, Finland, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Variation, Geographic Mapping, Humans, Multifactorial Inheritance, Quantitative Trait Loci, Reproducibility of Results, Exome Sequencing, FinnGen Project, General Science & Technology
Abstract

Exome-sequencing studies have generally been underpowered to identify deleterious alleles with a large effect on complex traits as such alleles are mostly rare. Because the population of northern and eastern Finland has expanded considerably and in isolation following a series of bottlenecks, individuals of these populations have numerous deleterious alleles at a relatively high frequency. Here, using exome sequencing of nearly 20,000 individuals from these regions, we investigate the role of rare coding variants in clinically relevant quantitative cardiometabolic traits. Exome-wide association studies for 64 quantitative traits identified 26 newly associated deleterious alleles. Of these 26 alleles, 19 are either unique to or more than 20 times more frequent in Finnish individuals than in other Europeans and show geographical clustering comparable to Mendelian disease mutations that are characteristic of the Finnish population. We estimate that sequencing studies of populations without this unique history would require hundreds of thousands to millions of participants to achieve comparable association power.

Published
2019

13. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Author

Weerts, Marjolein J.A., Lanko, Kristina, Guzmán-Vega, Francisco J., Jackson, Adam, Ramakrishnan, Reshmi, Cardona-Londoño, Kelly J., Peña-Guerra, Karla A., van Bever, Yolande, van Paassen, Barbara W., Kievit, Anneke, van Slegtenhorst, Marjon, Allen, Nicholas M., Kehoe, Caroline M., Robinson, Hannah K., Pang, Lewis, Banu, Selina H., Zaman, Mashaya, Efthymiou, Stephanie, Houlden, Henry, Järvelä, Irma, Lauronen, Leena, Määttä, Tuomo, Schrauwen, Isabelle, Leal, Suzanne M., Ruivenkamp, Claudia A.L., Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M.P.C.D., Galehdari, Hamid, Mazaheri, Neda, Sisodiya, Sanjay M., Harrison, Victoria, Sun, Angela, Thies, Jenny, Pedroza, Luis Alberto, Lara-Taranchenko, Yana, Chinn, Ivan K., Lupski, James R., Garza-Flores, Alexandra, McGlothlin, Jeffery, Yang, Lin, Huang, Shaoping, Wang, Xiaodong, Jewett, Tamison, Rosso, Gretchen, Lin, Xi, Mohammed, Shehla, Merritt, J. Lawrence, II, Mirzaa, Ghayda M., Timms, Andrew E., Scheck, Joshua, Elting, Mariet W., Polstra, Abeltje M., Schenck, Lauren, Ruzhnikov, Maura R.Z., Vetro, Annalisa, Montomoli, Martino, Guerrini, Renzo, Koboldt, Daniel C., Mosher, Theresa Mihalic, Pastore, Matthew T., McBride, Kim L., Peng, Jing, Pan, Zou, Willemsen, Marjolein, Koning, Susanne, Turnpenny, Peter D., de Vries, Bert B.A., Gilissen, Christian, Pfundt, Rolph, Lees, Melissa, Braddock, Stephen R., Klemp, Kara C., Vansenne, Fleur, van Gijn, Marielle E., Quindipan, Catherine, Deardorff, Matthew A., Hamm, J. Austin, Putnam, Abbey M., Baud, Rebecca, Walsh, Laurence, Lynch, Sally A., Baptista, Julia, Person, Richard E., Monaghan, Kristin G., Crunk, Amy, Keller-Ramey, Jennifer, Reich, Adi, Elloumi, Houda Zghal, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Haghshenas, Sadegheh, Maroofian, Reza, Sadikovic, Bekim, Banka, Siddharth, Arold, Stefan T., and Barakat, Tahsin Stefan

Published
2021
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14. MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

Author

Gong, Maolei, primary, Li, Jiayi, additional, Liu, Yijun, additional, Matheus, Vernet Machado Bressan Wilk, additional, Li, Qian, additional, Liu, Haoran, additional, Liang, Chen, additional, Joel A, Morales-Rosado, additional, Cohen, Ana S.A., additional, Hughes, Susan S., additional, Sullivan, Bonnie R, additional, Waddell, Valerie, additional, Henriette van den Boogaard, Marie Jose, additional, van Jaarsveld, Richard H., additional, Binsbergen, Ellen van, additional, van Gassen, Koen L, additional, Wang, Tianyun, additional, Hiatt, Susan M., additional, Amaral, Michelle D., additional, Kelley, Whitley V., additional, Zhao, Jianbo, additional, Feng, Weixing, additional, Ren, Changhong, additional, Yu, Yazhen, additional, Boczek, Nicole J, additional, Ferber, Matthew J., additional, Lahner, Carrie, additional, Elliott, Sherr, additional, Ruan, Yiyan, additional, Mignot, Cyril, additional, Keren, Boris, additional, Xie, Hua, additional, Wang, Xiaoyan, additional, Popp, Bernt, additional, Zweier, Christiane, additional, Piard, Juliette, additional, Coubes, Christine, additional, Tran-Mau-Them, Frederic, additional, Safraou, Hana, additional, Innes, Micheil, additional, Gauthier, Julie, additional, Michaud, Jacques L, additional, Koboldt, Daniel C., additional, Sylvie, ODENT, additional, Willems, Marjolaine, additional, Tan, Wen-Hann, additional, Cogne, Benjamin, additional, Rieubland, Claudine, additional, Braun, Dominique, additional, McLean, Scott Douglas, additional, Platzer, Konrad, additional, Zacher, Pia, additional, Oppermann, Henry, additional, Evenepoel, Lucie, additional, BLANC, Pierre, additional, Khattabi, Laila El, additional, Haque, Neshatul, additional, Dsouza, Nikita R., additional, Zimmermann, Michael T, additional, Urrutia, Raul A, additional, Klee, Eric W, additional, Shen, Yiping, additional, Du, Hong-Zhen, additional, Qin, Zailong, additional, Liu, Chang-Mei, additional, and chen, xiaoli, additional

Published
2024
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15. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Author

Pena, Loren, Shashi, Vandana, Schoch, Kelly, Sullivan, Jennifer A., Acosta, Maria T., Adams, David R., Aday, Aaron, Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Barbouth, Deborah, Batzli, Gabriel F., Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bick, David P., Birch, Camille L., Bivona, Stephanie, Bonnenmann, Carsten, Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., Brokamp, Elly, Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Carrasquillo, Olveen, Peter Chang, Ta Chen, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D'Souza, Precilla, Dasari, Surendra, Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dell'Angelica, Esteban C., Dhar, Shweta U., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Dries, Annika M., Duncan, Laura, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Enns, Gregory M., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Friedman, Noah D., Gahl, William A., Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Gourdine, Jean-Philippe F., Grajewski, Alana, Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., High, Frances, Holm, Ingrid A., Hom, Jason, Huang, Alden, Huang, Yong, Isasi, Rosario, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Kelley, Emily G., Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Korrick, Susan, Koziura, Mary, Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lam, Byron, Lanpher, Brendan C., Lanza, Ian R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., Merker, Jason D., Metz, Thomas O., Might, Matthew, Morava-Kozicz, Eva, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Nath, Avi, Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pak, Stephen, Pallais, J. Carl, Palmer, Christina GS., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Renteri, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rowley, Robb K., Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Scott, Daryl A., Shakachite, Lisa, Sharma, Prashant, Shields, Kathleen, Shin, Jimann, Signer, Rebecca, Sillari, Catherine H., Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Solnica-Krezel, Lilianna, Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sweetser, David A., Tamburro, Cecelia P., Tan, Queenie K.-G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vogel, Tiphanie P., Waggott, Daryl M., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Wegner, Daniel, Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Woods, Jeremy D., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, John, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zuchner, Stephan, Gahl, William, Johnson, Brett V., Kumar, Raman, Oishi, Sabrina, Alexander, Suzy, Kasherman, Maria, Vega, Michelle Sanchez, Ivancevic, Atma, Gardner, Alison, Domingo, Deepti, Corbett, Mark, Parnell, Euan, Yoon, Sehyoun, Oh, Tracey, Lines, Matthew, Lefroy, Henrietta, Kini, Usha, Van Allen, Margot, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Bézieau, Stéphane, Pasquier, Laurent, Raynaud, Martine, Afenjar, Alexandra, Billette de Villemeur, Thierry, Keren, Boris, Désir, Julie, Van Maldergem, Lionel, Marangoni, Martina, Dikow, Nicola, Koolen, David A., VanHasselt, Peter M., Weiss, Marjan, Zwijnenburg, Petra, Sa, Joaquim, Reis, Claudia Falcao, López-Otín, Carlos, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Rauch, Anita, Steindl, Katharina, Joset, Pascal, Goldstein, Amy, Madan-Khetarpal, Suneeta, Infante, Elena, Zackai, Elaine, Mcdougall, Carey, Narayanan, Vinodh, Ramsey, Keri, Mercimek-Andrews, Saadet, Pinto e Vairo, Filippo, Pichurin, Pavel N., Ewing, Sarah A., Barnett, Sarah S., Klee, Eric W., Perry, M. Scott, Koenig, Mary Kay, Keegan, Catherine E., Schuette, Jane L., Asher, Stephanie, Perilla-Young, Yezmin, Smith, Laurie D., Bhoj, Elizabeth, Kaplan, Paige, Li, Dong, Oegema, Renske, van Binsbergen, Ellen, van der Zwaag, Bert, Smeland, Marie Falkenberg, Cutcutache, Ioana, Page, Matthew, Armstrong, Martin, Lin, Angela E., Steeves, Marcie A., Hollander, Nicolette den, Hoffer, Mariëtte J.V., Reijnders, Margot R.F., Demirdas, Serwet, Koboldt, Daniel C., Bartholomew, Dennis, Mosher, Theresa Mihalic, Hickey, Scott E., Shieh, Christine, Sanchez-Lara, Pedro A., Graham, John M., Jr., Tezcan, Kamer, Schaefer, G.B., Danylchuk, Noelle R., Asamoah, Alexander, Jackson, Kelly E., Yachelevich, Naomi, Au, Margaret, Pérez-Jurado, Luis A., Kleefstra, Tjitske, Penzes, Peter, Wood, Stephen A., Burne, Thomas, Pierson, Tyler Mark, Piper, Michael, Gécz, Jozef, and Jolly, Lachlan A.

Published
2020
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16. Human whole-exome genotype data for Alzheimer’s disease

Author

Leung, Yuk Yee, Naj, Adam C., Chou, Yi Fan, Valladares, Otto, Schmidt, Michael, Hamilton-Nelson, Kara, Wheeler, Nicholas, Lin, Honghuang, Gangadharan, Prabhakaran, Qu, Liming, Clark, Kaylyn, Kuzma, Amanda B., Lee, Wan Ping, Cantwell, Laura, Nicaretta, Heather, van der Lee, Sven, English, Adam, Kalra, Divya, Muzny, Donna, Skinner, Evette, Doddapeneni, Harsha, Dinh, Huyen, Hu, Jianhong, Santibanez, Jireh, Jayaseelan, Joy, Worley, Kim, Gibbs, Richard A., Lee, Sandra, Dugan-Perez, Shannon, Korchina, Viktoriya, Nasser, Waleed, Liu, Xiuping, Han, Yi, Zhu, Yiming, Liu, Yue, Khan, Ziad, Zhu, Congcong, Sun, Fangui Jenny, Jun, Gyungah R., Chung, Jaeyoon, Farrell, John, Zhang, Xiaoling, Banks, Eric, Gupta, Namrata, Gabriel, Stacey, Butkiewicz, Mariusz, Benchek, Penelope, Smieszek, Sandra, Song, Yeunjoo, Vardarajan, Badri, Reitz, Christiane, Reyes-Dumeyer, Dolly, Tosto, Giuseppe, De Jager, Phillip L., Barral, Sandra, Ma, Yiyi, Beiser, Alexa, Liu, Ching Ti, Dupuis, Josee, Lunetta, Kathy, Cupples, L. Adrienne, Choi, Seung Hoan, Chen, Yuning, Mez, Jesse, Vanderspek, Ashley, Ikram, M. Arfan, Ahmad, Shahzad, Faber, Kelley, Foroud, Tatiana, Mlynarski, Elisabeth, Schmidt, Helena, Schmidt, Reinhold, Kunkle, Brian, Rajabli, Farid, Beecham, Gary, Vance, Jeffrey M., Adams, Larry D., Cuccaro, Michael, Mena, Pedro, Booth, Briana M., Renton, Alan, Goate, Alison, Marcora, Edoardo, Stine, Adam, Feolo, Michael, Launer, Lenore J., Koboldt, Daniel C., Wilson, Richard K., van Duijn, Cornelia, Amin, Najaf, Kapoor, Manav, Salerno, William, Bennett, David A., Xia, Li Charlie, Malamon, John, Mosley, Thomas H., Satizabal, Claudia, Jan Bressler, Bressler, Jian, Xueqiu, Nato, Alejandro Q., Horimoto, Andrea R., Wang, Bowen, Psaty, Bruce, Witten, Daniela, Tsuang, Debby, Blue, Elizabeth, Wijsman, Ellen, Sohi, Harkirat, Nguyen, Hiep, Bis, Joshua C., Rice, Kenneth, Brown, Lisa, Dorschner, Michael, Saad, Mohamad, Navas, Pat, Nafikov, Rafael, Thornton, Timothy, Day, Tyler, Haut, Jacob, Sha, Jin, Zhang, Nancy, Iqbal, Taha, Zhao, Yi, Below, Jennifer E., Larson, David E., Appelbaum, Elizabeth, Waligorski, Jason, Antonacci-Fulton, Lucinda, Fulton, Robert S., Haines, Jonathan, Farrer, Lindsay, Seshadri, Sudha, Brkanac, Zoran, Cruchaga, Carlos, Pericak-Vance, Margaret, Mayeux, Richard P., Bush, William S., Destefano, Anita, Martin, Eden, Schellenberg, Gerard D., Wang, Li San, Leung, Yuk Yee, Naj, Adam C., Chou, Yi Fan, Valladares, Otto, Schmidt, Michael, Hamilton-Nelson, Kara, Wheeler, Nicholas, Lin, Honghuang, Gangadharan, Prabhakaran, Qu, Liming, Clark, Kaylyn, Kuzma, Amanda B., Lee, Wan Ping, Cantwell, Laura, Nicaretta, Heather, van der Lee, Sven, English, Adam, Kalra, Divya, Muzny, Donna, Skinner, Evette, Doddapeneni, Harsha, Dinh, Huyen, Hu, Jianhong, Santibanez, Jireh, Jayaseelan, Joy, Worley, Kim, Gibbs, Richard A., Lee, Sandra, Dugan-Perez, Shannon, Korchina, Viktoriya, Nasser, Waleed, Liu, Xiuping, Han, Yi, Zhu, Yiming, Liu, Yue, Khan, Ziad, Zhu, Congcong, Sun, Fangui Jenny, Jun, Gyungah R., Chung, Jaeyoon, Farrell, John, Zhang, Xiaoling, Banks, Eric, Gupta, Namrata, Gabriel, Stacey, Butkiewicz, Mariusz, Benchek, Penelope, Smieszek, Sandra, Song, Yeunjoo, Vardarajan, Badri, Reitz, Christiane, Reyes-Dumeyer, Dolly, Tosto, Giuseppe, De Jager, Phillip L., Barral, Sandra, Ma, Yiyi, Beiser, Alexa, Liu, Ching Ti, Dupuis, Josee, Lunetta, Kathy, Cupples, L. Adrienne, Choi, Seung Hoan, Chen, Yuning, Mez, Jesse, Vanderspek, Ashley, Ikram, M. Arfan, Ahmad, Shahzad, Faber, Kelley, Foroud, Tatiana, Mlynarski, Elisabeth, Schmidt, Helena, Schmidt, Reinhold, Kunkle, Brian, Rajabli, Farid, Beecham, Gary, Vance, Jeffrey M., Adams, Larry D., Cuccaro, Michael, Mena, Pedro, Booth, Briana M., Renton, Alan, Goate, Alison, Marcora, Edoardo, Stine, Adam, Feolo, Michael, Launer, Lenore J., Koboldt, Daniel C., Wilson, Richard K., van Duijn, Cornelia, Amin, Najaf, Kapoor, Manav, Salerno, William, Bennett, David A., Xia, Li Charlie, Malamon, John, Mosley, Thomas H., Satizabal, Claudia, Jan Bressler, Bressler, Jian, Xueqiu, Nato, Alejandro Q., Horimoto, Andrea R., Wang, Bowen, Psaty, Bruce, Witten, Daniela, Tsuang, Debby, Blue, Elizabeth, Wijsman, Ellen, Sohi, Harkirat, Nguyen, Hiep, Bis, Joshua C., Rice, Kenneth, Brown, Lisa, Dorschner, Michael, Saad, Mohamad, Navas, Pat, Nafikov, Rafael, Thornton, Timothy, Day, Tyler, Haut, Jacob, Sha, Jin, Zhang, Nancy, Iqbal, Taha, Zhao, Yi, Below, Jennifer E., Larson, David E., Appelbaum, Elizabeth, Waligorski, Jason, Antonacci-Fulton, Lucinda, Fulton, Robert S., Haines, Jonathan, Farrer, Lindsay, Seshadri, Sudha, Brkanac, Zoran, Cruchaga, Carlos, Pericak-Vance, Margaret, Mayeux, Richard P., Bush, William S., Destefano, Anita, Martin, Eden, Schellenberg, Gerard D., and Wang, Li San

Abstract

The heterogeneity of the whole-exome sequencing (WES) data generation methods present a challenge to a joint analysis. Here we present a bioinformatics strategy for joint-calling 20,504 WES samples collected across nine studies and sequenced using ten capture kits in fourteen sequencing centers in the Alzheimer’s Disease Sequencing Project. The joint-genotype called variant-called format (VCF) file contains only positions within the union of capture kits. The VCF was then processed specifically to account for the batch effects arising from the use of different capture kits from different studies. We identified 8.2 million autosomal variants. 96.82% of the variants are high-quality, and are located in 28,579 Ensembl transcripts. 41% of the variants are intronic and 1.8% of the variants are with CADD > 30, indicating they are of high predicted pathogenicity. Here we show our new strategy can generate high-quality data from processing these diversely generated WES samples. The improved ability to combine data sequenced in different batches benefits the whole genomics research community.

Published
2024

17. Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation

Author

Metabole ziekten patientenzorg, Genetica, Child Health, Infection & Immunity, Bhat, Shreyas, Rousseau, Justine, Michaud, Coralie, Lourenço, Charles Marques, Stoler, Joan M., Louie, Raymond J., Clarkson, Lola K., Lichty, Angie, Koboldt, Daniel C., Reshmi, Shalini C., Sisodiya, Sanjay M., Hoytema van Konijnenburg, Eva M.M., Koop, Klaas, van Hasselt, Peter M., Démurger, Florence, Dubourg, Christèle, Sullivan, Bonnie R., Hughes, Susan S., Thiffault, Isabelle, Tremblay, Elisabeth Simard, Accogli, Andrea, Srour, Myriam, Blunck, Rikard, Campeau, Philippe M., Metabole ziekten patientenzorg, Genetica, Child Health, Infection & Immunity, Bhat, Shreyas, Rousseau, Justine, Michaud, Coralie, Lourenço, Charles Marques, Stoler, Joan M., Louie, Raymond J., Clarkson, Lola K., Lichty, Angie, Koboldt, Daniel C., Reshmi, Shalini C., Sisodiya, Sanjay M., Hoytema van Konijnenburg, Eva M.M., Koop, Klaas, van Hasselt, Peter M., Démurger, Florence, Dubourg, Christèle, Sullivan, Bonnie R., Hughes, Susan S., Thiffault, Isabelle, Tremblay, Elisabeth Simard, Accogli, Andrea, Srour, Myriam, Blunck, Rikard, and Campeau, Philippe M.

Published
2024

18. Discovery of clinically relevant fusions in pediatric cancer

Author

LaHaye, Stephanie, Fitch, James R., Voytovich, Kyle J., Herman, Adam C., Kelly, Benjamin J., Lammi, Grant E., Arbesfeld, Jeremy A., Wijeratne, Saranga, Franklin, Samuel J., Schieffer, Kathleen M., Bir, Natalie, McGrath, Sean D., Miller, Anthony R., Wetzel, Amy, Miller, Katherine E., Bedrosian, Tracy A., Leraas, Kristen, Varga, Elizabeth A., Lee, Kristy, Gupta, Ajay, Setty, Bhuvana, Boué, Daniel R., Leonard, Jeffrey R., Finlay, Jonathan L., Abdelbaki, Mohamed S., Osorio, Diana S., Koo, Selene C., Koboldt, Daniel C., Wagner, Alex H., Eisfeld, Ann-Kathrin, Mrózek, Krzysztof, Magrini, Vincent, Cottrell, Catherine E., Mardis, Elaine R., Wilson, Richard K., and White, Peter

Published
2021
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19. Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma

Author

Schieffer, Kathleen M., Feldman, Alexander Z., Kautto, Esko A., McGrath, Sean, Miller, Anthony R., Hernandez-Gonzalez, Maria Elena, LaHaye, Stephanie, Miller, Katherine E., Koboldt, Daniel C., Brennan, Patrick, Kelly, Benjamin, Wetzel, Amy, Agarwal, Vibhuti, Shatara, Margaret, Conley, Suzanne, Rodriguez, Diana P., Abu-Arja, Rolla, Shaikhkhalil, Ala, Snuderl, Matija, Orr, Brent A., Finlay, Jonathan L., Osorio, Diana S., Drapeau, Annie I., Leonard, Jeffrey R., Pierson, Christopher R., White, Peter, Magrini, Vincent, Mardis, Elaine R., Wilson, Richard K., Cottrell, Catherine E., and Boué, Daniel R.

Published
2021
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21. Quality control and integration of genotypes from two calling pipelines for whole genome sequence data in the Alzheimer's disease sequencing project

Author

Naj, Adam C., Lin, Honghuang, Vardarajan, Badri N., White, Simon, Lancour, Daniel, Ma, Yiyi, Schmidt, Michael, Sun, Fangui, Butkiewicz, Mariusz, Bush, William S., Kunkle, Brian W., Malamon, John, Amin, Najaf, Choi, Seung Hoan, Hamilton-Nelson, Kara L., van der Lee, Sven J., Gupta, Namrata, Koboldt, Daniel C., Saad, Mohamad, Wang, Bowen, Nato, Alejandro Q., Jr., Sohi, Harkirat K., Kuzma, Amanda, Wang, Li-San, Cupples, L. Adrienne, van Duijn, Cornelia, Seshadri, Sudha, Schellenberg, Gerard D., Boerwinkle, Eric, Bis, Joshua C., Dupuis, Josée, Salerno, William J., Wijsman, Ellen M., Martin, Eden R., and DeStefano, Anita L.

Published
2019
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22. A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease

Author

Bellair, Michelle, Dinh, Huyen, Doddapeneni, Harsha, Dugan-Perez, Shannon, English, Adam, Gibbs, Richard A., Han, Yi, Hu, Jianhong, Jayaseelan, Joy, Kalra, Divya, Khan, Ziad, Korchina, Viktoriya, Lee, Sandra, Liu, Yue, Liu, Xiuping, Muzny, Donna, Nasser, Waleed, Salerno, William, Santibanez, Jireh, Skinner, Evette, White, Simon, Worley, Kim, Zhu, Yiming, Beiser, Alexa, Chen, Yuning, Chung, Jaeyoon, Cupples, L. Adrienne, DeStefano, Anita, Dupuis, Josee, Farrell, John, Farrer, Lindsay, Lancour, Daniel, Lin, Honghuang, Liu, Ching Ti, Lunetta, Kathy, Ma, Yiyi, Patel, Devanshi, Sarnowski, Chloe, Satizabal, Claudia, Seshadri, Sudha, Sun, Fangui Jenny, Zhang, Xiaoling, Choi, Seung Hoan, Banks, Eric, Gabriel, Stacey, Gupta, Namrata, Bush, William, Butkiewicz, Mariusz, Haines, Jonathan, Smieszek, Sandra, Song, Yeunjoo, Barral, Sandra, De Jager, Phillip L., Mayeux, Richard, Reitz, Christiane, Reyes, Dolly, Tosto, Giuseppe, Vardarajan, Badri, Amad, Shahzad, Amin, Najaf, Ikram, M. Afran, van der Lee, Sven, van Duijn, Cornelia, Vanderspek, Ashley, Schmidt, Helena, Schmidt, Reinhold, Goate, Alison, Kapoor, Manav, Marcora, Edoardo, Renton, Alan, Faber, Kelley, Foroud, Tatiana, Feolo, Michael, Stine, Adam, Launer, Lenore J., Bennett, David A., Xia, Li Charlie, Beecham, Gary, Hamilton-Nelson, Kara, Jaworski, James, Kunkle, Brian, Martin, Eden, Pericak-Vance, Margaret, Rajabli, Farid, Schmidt, Michael, Mosley, Thomas H., Cantwell, Laura, Childress, Micah, Chou, Yi-Fan, Cweibel, Rebecca, Gangadharan, Prabhakaran, Kuzma, Amanda, Leung, Yuk Yee, Lin, Han-Jen, Malamon, John, Mlynarski, Elisabeth, Naj, Adam, Qu, Liming, Schellenberg, Gerard, Valladares, Otto, Wang, Li-San, Wang, Weixin, Zhang, Nancy, Below, Jennifer E., Boerwinkle, Eric, Bressler, Jan, Fornage, Myriam, Jian, Xueqiu, Liu, Xiaoming, Bis, Joshua C., Blue, Elizabeth, Brown, Lisa, Day, Tyler, Dorschner, Michael, Horimoto, Andrea R., Nafikov, Rafael, Nato, Alejandro Q., Jr., Navas, Pat, Nguyen, Hiep, Psaty, Bruce, Rice, Kenneth, Saad, Mohamad, Sohi, Harkirat, Thornton, Timothy, Tsuang, Debby, Wang, Bowen, Wijsman, Ellen, Witten, Daniela, Antonacci-Fulton, Lucinda, Appelbaum, Elizabeth, Cruchaga, Carlos, Fulton, Robert S., Koboldt, Daniel C., Larson, David E., Waligorski, Jason, Wilson, Richard K., Zhu, Congcong, Vardarajan, Badri N., Farrell, John J., Haines, Jonathan L., Schellenberg, Gerard D., Pericak-Vance, Margaret A., Lunetta, Kathryn L., and Farrer, Lindsay A.

Published
2019
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23. Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review

Author

Gurusamy, Umamaheswaran, primary, Ramadesikan, Swetha, additional, Marhabaie, Mohammad, additional, Colwell, Caitlyn M., additional, Hunter, Jesse M., additional, Leung, Marco L., additional, Mardis, Elaine R., additional, White, Peter, additional, Manickam, Murugu, additional, Wilson, Richard K., additional, and Koboldt, Daniel C., additional

Published
2024
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24. RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Author

Dharmadhikari, Avinash V, primary, Abad, Maria Alba, additional, Khan, Sheraz, additional, Maroofian, Reza, additional, Sands, Tristan T, additional, Ullah, Farid, additional, Samejima, Itaru, additional, Wear, Martin A, additional, Moore, Kiara E, additional, Kondakova, Elena, additional, Mitina, Natalia, additional, Schaub, Theres, additional, Lee, Grace K, additional, Umandap, Christine H, additional, Berger, Sara M, additional, Iglesias, Alejandro D, additional, Popp, Bernt, additional, Jamra, Rami Abou, additional, Gabriel, Heinz, additional, Rentas, Stefan, additional, Rippert, Alyssa L, additional, Izumi, Kosuke, additional, Conlin, Laura K, additional, Koboldt, Daniel C, additional, Mihalic Mosher, Theresa, additional, Hickey, Scott E, additional, Albert, Dara VF, additional, Norwood, Haley, additional, Lewanda, Amy Feldman, additional, Dai, Hongzheng, additional, Liu, Pengfei, additional, Mitani, Tadahiro, additional, Marafi, Dana, additional, Pehlivan, Davut, additional, Posey, Jennifer E, additional, Lippa, Natalie, additional, Vena, Natalie, additional, Heinzen, Erin L, additional, Goldstein, David B, additional, Mignot, Cyril, additional, Agathe, Jean-Madeleine de Sainte, additional, Al-Sannaa, Nouriya Abbas, additional, Zamani, Mina, additional, Sadeghian, Saeid, additional, Seifia, Tahere, additional, Zaki, Maha S, additional, Abdel-Salam, Ghada MH, additional, Abdel-Hamid, Mohamed, additional, Alabdi, Lama, additional, Alkuraya, Fowzan Sami, additional, Dawoud, Heba, additional, Lofty, Aya, additional, Bauer, Peter, additional, Zifarelli, Giovanni, additional, Afzal, Erum, additional, Zafar, Faisal, additional, Efthymiou, Stephanie, additional, Gossett, Daniel, additional, Towne, Meghan C, additional, Yeneabat, Raey, additional, Wontakal, Sandeep N, additional, Aggarwal, Vimla S, additional, Rosenfeld, Jill A, additional, Tarabykin, Victor, additional, Ohta, Shinya, additional, Lupski, James R, additional, Houlden, Henry, additional, Earnshaw, William C, additional, Davis, Erica E, additional, Jeyaprakash, A Arockia, additional, and Liao, Jun, additional

Published
2024
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25. Comparative analysis of the domestic cat genome reveals genetic signatures underlying feline biology and domestication

Author

Montague, Michael J, Li, Gang, Gandolfi, Barbara, Khan, Razib, Aken, Bronwen L, Searle, Steven MJ, Minx, Patrick, Hillier, LaDeana W, Koboldt, Daniel C, Davis, Brian W, Driscoll, Carlos A, Barr, Christina S, Blackistone, Kevin, Quilez, Javier, Lorente-Galdos, Belen, Marques-Bonet, Tomas, Alkan, Can, Thomas, Gregg WC, Hahn, Matthew W, Menotti-Raymond, Marilyn, O'Brien, Stephen J, Wilson, Richard K, Lyons, Leslie A, Murphy, William J, and Warren, Wesley C

Subjects
Human Genome, Genetics, Biotechnology, Adaptation, Physiological, Amino Acid Sequence, Animals, Animals, Domestic, Animals, Wild, Carnivory, Cats, Chromosome Mapping, DNA Copy Number Variations, Dogs, Female, Gene Deletion, Gene Duplication, Genome, Genomics, Male, Membrane Transport Proteins, Molecular Sequence Data, Phylogeny, Selection, Genetic, Sequence Analysis, DNA, Sequence Homology, Amino Acid, Species Specificity, Felis catus, domestication, genome
Abstract

Little is known about the genetic changes that distinguish domestic cat populations from their wild progenitors. Here we describe a high-quality domestic cat reference genome assembly and comparative inferences made with other cat breeds, wildcats, and other mammals. Based upon these comparisons, we identified positively selected genes enriched for genes involved in lipid metabolism that underpin adaptations to a hypercarnivorous diet. We also found positive selection signals within genes underlying sensory processes, especially those affecting vision and hearing in the carnivore lineage. We observed an evolutionary tradeoff between functional olfactory and vomeronasal receptor gene repertoires in the cat and dog genomes, with an expansion of the feline chemosensory system for detecting pheromones at the expense of odorant detection. Genomic regions harboring signatures of natural selection that distinguish domestic cats from their wild congeners are enriched in neural crest-related genes associated with behavior and reward in mouse models, as predicted by the domestication syndrome hypothesis. Our description of a previously unidentified allele for the gloving pigmentation pattern found in the Birman breed supports the hypothesis that cat breeds experienced strong selection on specific mutations drawn from random bred populations. Collectively, these findings provide insight into how the process of domestication altered the ancestral wildcat genome and build a resource for future disease mapping and phylogenomic studies across all members of the Felidae.

Published
2014

26. Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.

Author

Service, Susan K, Teslovich, Tanya M, Fuchsberger, Christian, Ramensky, Vasily, Yajnik, Pranav, Koboldt, Daniel C, Larson, David E, Zhang, Qunyuan, Lin, Ling, Welch, Ryan, Ding, Li, McLellan, Michael D, O'Laughlin, Michele, Fronick, Catrina, Fulton, Lucinda L, Magrini, Vincent, Swift, Amy, Elliott, Paul, Jarvelin, Marjo-Riitta, Kaakinen, Marika, McCarthy, Mark I, Peltonen, Leena, Pouta, Anneli, Bonnycastle, Lori L, Collins, Francis S, Narisu, Narisu, Stringham, Heather M, Tuomilehto, Jaakko, Ripatti, Samuli, Fulton, Robert S, Sabatti, Chiara, Wilson, Richard K, Boehnke, Michael, and Freimer, Nelson B

Subjects
Humans, Cholesterol, Genotype, Linkage Disequilibrium, Phenotype, Quantitative Trait Loci, Population Groups, European Continental Ancestry Group, Finland, Cholesterol, HDL, Genome-Wide Association Study, High-Throughput Nucleotide Sequencing, HDL, Genetics, Developmental Biology
Abstract

Genome-wide association studies (GWAS) have identified >500 common variants associated with quantitative metabolic traits, but in aggregate such variants explain at most 20-30% of the heritable component of population variation in these traits. To further investigate the impact of genotypic variation on metabolic traits, we conducted re-sequencing studies in >6,000 members of a Finnish population cohort (The Northern Finland Birth Cohort of 1966 [NFBC]) and a type 2 diabetes case-control sample (The Finland-United States Investigation of NIDDM Genetics [FUSION] study). By sequencing the coding sequence and 5' and 3' untranslated regions of 78 genes at 17 GWAS loci associated with one or more of six metabolic traits (serum levels of fasting HDL-C, LDL-C, total cholesterol, triglycerides, plasma glucose, and insulin), and conducting both single-variant and gene-level association tests, we obtained a more complete understanding of phenotype-genotype associations at eight of these loci. At all eight of these loci, the identification of new associations provides significant evidence for multiple genetic signals to one or more phenotypes, and at two loci, in the genes ABCA1 and CETP, we found significant gene-level evidence of association to non-synonymous variants with MAF

Published
2014

27. YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas

Author

Schieffer, Kathleen M., Agarwal, Vibhuti, LaHaye, Stephanie, Miller, Katherine E., Koboldt, Daniel C., Lichtenberg, Tara, Leraas, Kristen, Brennan, Patrick, Kelly, Benjamin J., Crist, Erin, Rusin, Jerome, Finlay, Jonathan L., Osorio, Diana S., Sribnick, Eric A., Leonard, Jeffrey R., Feldman, Alexander, Orr, Brent A., Serrano, Jonathan, Vasudevaraja, Varshini, Snuderl, Matija, White, Peter, Magrini, Vincent, Wilson, Richard K., Mardis, Elaine R., Boué, Daniel R., and Cottrell, Catherine E.

Published
2020
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28. Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

Author

Frints, Suzanna G. M., Ozanturk, Aysegul, Rodríguez Criado, Germán, Grasshoff, Ute, de Hoon, Bas, Field, Michael, Manouvrier-Hanu, Sylvie, E. Hickey, Scott, Kammoun, Molka, Gripp, Karen W., Bauer, Claudia, Schroeder, Christopher, Toutain, Annick, Mihalic Mosher, Theresa, Kelly, Benjamin J., White, Peter, Dufke, Andreas, Rentmeester, Eveline, Moon, Sungjin, Koboldt, Daniel C, van Roozendaal, Kees E. P., Hu, Hao, Haas, Stefan A., Ropers, Hans-Hilger, Murray, Lucinda, Haan, Eric, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Liebelt, Jan, Hobson, Lynne, De Rademaeker, Marjan, Geraedts, Joep, Fryns, Jean-Pierre, Vermeesch, Joris, Raynaud, Martine, Riess, Olaf, Gribnau, Joost, Katsanis, Nicholas, Devriendt, Koen, Bauer, Peter, Gecz, Jozef, Golzio, Christelle, Gontan, Cristina, and Kalscheuer, Vera M.

Published
2019
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30. Whole-genome analysis informs breast cancer response to aromatase inhibition

Author

Ellis, Matthew J, Ding, Li, Shen, Dong, Luo, Jingqin, Suman, Vera J, Wallis, John W, Van Tine, Brian A, Hoog, Jeremy, Goiffon, Reece J, Goldstein, Theodore C, Ng, Sam, Lin, Li, Crowder, Robert, Snider, Jacqueline, Ballman, Karla, Weber, Jason, Chen, Ken, Koboldt, Daniel C, Kandoth, Cyriac, Schierding, William S, McMichael, Joshua F, Miller, Christopher A, Lu, Charles, Harris, Christopher C, McLellan, Michael D, Wendl, Michael C, DeSchryver, Katherine, Allred, D Craig, Esserman, Laura, Unzeitig, Gary, Margenthaler, Julie, Babiera, GV, Marcom, P Kelly, Guenther, JM, Leitch, Marilyn, Hunt, Kelly, Olson, John, Tao, Yu, Maher, Christopher A, Fulton, Lucinda L, Fulton, Robert S, Harrison, Michelle, Oberkfell, Ben, Du, Feiyu, Demeter, Ryan, Vickery, Tammi L, Elhammali, Adnan, Piwnica-Worms, Helen, McDonald, Sandra, Watson, Mark, Dooling, David J, Ota, David, Chang, Li-Wei, Bose, Ron, Ley, Timothy J, Piwnica-Worms, David, Stuart, Joshua M, Wilson, Richard K, and Mardis, Elaine R

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Sciences, Oncology and Carcinogenesis, Cancer Genomics, Human Genome, Biotechnology, Clinical Research, Women's Health, Breast Cancer, Cancer, Clinical Trials and Supportive Activities, 2.1 Biological and endogenous factors, 4.2 Evaluation of markers and technologies, 4.1 Discovery and preclinical testing of markers and technologies, 6.1 Pharmaceuticals, Anastrozole, Androstadienes, Antineoplastic Agents, Aromatase, Aromatase Inhibitors, Breast Neoplasms, DNA Repair, Exome, Exons, Female, Genetic Variation, Genome, Human, Humans, Letrozole, MAP Kinase Kinase 4, MAP Kinase Kinase Kinase 1, Mutation, Nitriles, Receptors, Estrogen, Treatment Outcome, Triazoles, General Science & Technology
Abstract

To correlate the variable clinical features of oestrogen-receptor-positive breast cancer with somatic alterations, we studied pretreatment tumour biopsies accrued from patients in two studies of neoadjuvant aromatase inhibitor therapy by massively parallel sequencing and analysis. Eighteen significantly mutated genes were identified, including five genes (RUNX1, CBFB, MYH9, MLL3 and SF3B1) previously linked to haematopoietic disorders. Mutant MAP3K1 was associated with luminal A status, low-grade histology and low proliferation rates, whereas mutant TP53 was associated with the opposite pattern. Moreover, mutant GATA3 correlated with suppression of proliferation upon aromatase inhibitor treatment. Pathway analysis demonstrated that mutations in MAP2K4, a MAP3K1 substrate, produced similar perturbations as MAP3K1 loss. Distinct phenotypes in oestrogen-receptor-positive breast cancer are associated with specific patterns of somatic mutations that map into cellular pathways linked to tumour biology, but most recurrent mutations are relatively infrequent. Prospective clinical trials based on these findings will require comprehensive genome sequencing.

Published
2012

34. Comprehensive genomic characterization defines human glioblastoma genes and core pathways

Author

McLendon, Roger, Friedman, Allan, Bigner, Darrell, Van Meir, Erwin G, Brat, Daniel J, M. Mastrogianakis, Gena, Olson, Jeffrey J, Mikkelsen, Tom, Lehman, Norman, Aldape, Ken, Alfred Yung, WK, Bogler, Oliver, VandenBerg, Scott, Berger, Mitchel, Prados, Michael, Muzny, Donna, Morgan, Margaret, Scherer, Steve, Sabo, Aniko, Nazareth, Lynn, Lewis, Lora, Hall, Otis, Zhu, Yiming, Ren, Yanru, Alvi, Omar, Yao, Jiqiang, Hawes, Alicia, Jhangiani, Shalini, Fowler, Gerald, San Lucas, Anthony, Kovar, Christie, Cree, Andrew, Dinh, Huyen, Santibanez, Jireh, Joshi, Vandita, Gonzalez-Garay, Manuel L, Miller, Christopher A, Milosavljevic, Aleksandar, Donehower, Larry, Wheeler, David A, Gibbs, Richard A, Cibulskis, Kristian, Sougnez, Carrie, Fennell, Tim, Mahan, Scott, Wilkinson, Jane, Ziaugra, Liuda, Onofrio, Robert, Bloom, Toby, Nicol, Rob, Ardlie, Kristin, Baldwin, Jennifer, Gabriel, Stacey, Lander, Eric S, Ding, Li, Fulton, Robert S, McLellan, Michael D, Wallis, John, Larson, David E, Shi, Xiaoqi, Abbott, Rachel, Fulton, Lucinda, Chen, Ken, Koboldt, Daniel C, Wendl, Michael C, Meyer, Rick, Tang, Yuzhu, Lin, Ling, Osborne, John R, Dunford-Shore, Brian H, Miner, Tracie L, Delehaunty, Kim, Markovic, Chris, Swift, Gary, Courtney, William, Pohl, Craig, Abbott, Scott, Hawkins, Amy, Leong, Shin, Haipek, Carrie, Schmidt, Heather, Wiechert, Maddy, Vickery, Tammi, Scott, Sacha, Dooling, David J, Chinwalla, Asif, Weinstock, George M, Mardis, Elaine R, Wilson, Richard K, Getz, Gad, Winckler, Wendy, Verhaak, Roel GW, Lawrence, Michael S, O’Kelly, Michael, Robinson, Jim, Alexe, Gabriele, Beroukhim, Rameen, Carter, Scott, Chiang, Derek, and Gould, Josh

Subjects
Cancer, Human Genome, Genetic Testing, Brain Cancer, Genetics, Brain Disorders, Biotechnology, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Aged, Aged, 80 and over, Brain Neoplasms, DNA Methylation, DNA Modification Methylases, DNA Repair, DNA Repair Enzymes, Female, Gene Dosage, Gene Expression Regulation, Neoplastic, Genes, Tumor Suppressor, Genes, erbB-1, Genome, Human, Genomics, Glioblastoma, Humans, Male, Middle Aged, Models, Molecular, Mutation, Neurofibromin 1, Phosphatidylinositol 3-Kinases, Protein Structure, Tertiary, Retrospective Studies, Signal Transduction, Tumor Suppressor Proteins, Cancer Genome Atlas Research Network, General Science & Technology
Abstract

Human cancer cells typically harbour multiple chromosomal aberrations, nucleotide substitutions and epigenetic modifications that drive malignant transformation. The Cancer Genome Atlas (TCGA) pilot project aims to assess the value of large-scale multi-dimensional analysis of these molecular characteristics in human cancer and to provide the data rapidly to the research community. Here we report the interim integrative analysis of DNA copy number, gene expression and DNA methylation aberrations in 206 glioblastomas--the most common type of adult brain cancer--and nucleotide sequence aberrations in 91 of the 206 glioblastomas. This analysis provides new insights into the roles of ERBB2, NF1 and TP53, uncovers frequent mutations of the phosphatidylinositol-3-OH kinase regulatory subunit gene PIK3R1, and provides a network view of the pathways altered in the development of glioblastoma. Furthermore, integration of mutation, DNA methylation and clinical treatment data reveals a link between MGMT promoter methylation and a hypermutator phenotype consequent to mismatch repair deficiency in treated glioblastomas, an observation with potential clinical implications. Together, these findings establish the feasibility and power of TCGA, demonstrating that it can rapidly expand knowledge of the molecular basis of cancer.

Published
2008

36. Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue

Author

Miller, Katherine E., Koboldt, Daniel C., Schieffer, Kathleen M., Bedrosian, Tracy A., Crist, Erin, Sheline, Adrienne, Leraas, Kristen, Magrini, Vincent, Zhong, Huachun, Brennan, Patrick, Bush, Jocelyn, Fitch, James, Bir, Natalie, Miller, Anthony R., Cottrell, Catherine E., Leonard, Jeffrey, Pindrik, Jonathan A., Rusin, Jerome A., Shah, Summit H., White, Peter, Wilson, Richard K., Mardis, Elaine R., Pierson, Christopher R., and Ostendorf, Adam P.

Published
2020
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37. Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP)

Author

Daiger, Stephen P., Sullivan, Lori S., Bowne, Sara J., Koboldt, Daniel C., Blanton, Susan H., Wheaton, Dianna K., Avery, Cheryl E., Cadena, Elizabeth D., Koenekoop, Robert K., Fulton, Robert S., Wilson, Richard K., Weinstock, George M., Lewis, Richard A., Birch, David G., Bowes Rickman, Catherine, editor, LaVail, Matthew M., editor, Anderson, Robert E., editor, Grimm, Christian, editor, Hollyfield, Joe, editor, and Ash, John, editor

Published
2016
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38. Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease

Author

Beecham, Gary W., Vardarajan, Badri, Blue, Elizabeth, Bush, William, Jaworski, James, Barral, Sandra, DeStefano, Anita, Hamilton-Nelson, Kara, Kunkle, Brian, Martin, Eden R., Naj, Adam, Rajabli, Farid, Reitz, Christiane, Thornton, Timothy, van Duijn, Cornelia, Goate, Allison, Seshadri, Sudha, Farrer, Lindsay A., Boerwinkle, Eric, Schellenberg, Gerard, Haines, Jonathan L., Wijsman, Ellen, Mayeux, Richard, Pericak-Vance, Margaret A., English, Adam, Kalra, Divya, Muzny, Donna, Skinner, Evette, Doddapeneni, Harsha, Dinh, Huyen, Hu, Jianhong, Santibanez, Jireh, Jayaseelan, Joy, Worley, Kim, Bellair, Michelle, Gibbs, Richard A., Lee, Sandra, Dugan-Perez, Shannon, White, Simon, Korchina, Viktoriya, Nasser, Waleed, Salerno, William, Liu, Xiuping, Han, Yi, Zhu, Yiming, Liu, Yue, Khan, Ziad, Cupples, Adrienne, Beiser, Alexa, DeStefanos, Anita, Liu, Ching Ti, Sarnowski, Chloe, Satizabal, Claudia, Lancour, Dan, Patel, Devanshi, Sun, Fangui Jenny, Lin, Honghuang, Chung, Jaeyoon, Farrell, John, Dupuis, Josee, Lunetta, Kathy, Farrer, Lindsay, Seshadri, Sudha, Zhang, Xiaoling, Ma, Yiyi, Chen, Yuning, Banks, Eric, Gupta, Namrata, Choi, Seung Hoan, Gabriel, Stacey, Haines, Jonathan, Butkiewicz, Mariusz, Smieszek, Sandra, Bush, Will, Song, Yeunjoo, Vardarajan, Badri, Reitz, Christiane, Reyes, Dolly, Tosto, Giuseppe, De Jager, Phillip L, Mayeux, Richard, Barral, Sandra, Vanderspek, Ashley, van Duijn, Cornelia, Ikram, M Afran, Amin, Najaf, Amad, Shahzad, van der Lee, Sven, Faber, Kelley, Foroud, Tatiana, Schmidt, Helena, Schmidt, Reinhold, Renton, Alan, Goate, Alison, Marcora, Edoardo, Kapoor, Manav, Stine, Adam, Feolo, Michael, Launer, Lenore J., Bennett, David A, Xia, Li Charlie, Kunkle, Brian, Martin, Eden, Rajabli, Farid, Beecham, Gary, Jaworski, James, Hamilton-Nelson, Kara, Pericak-Vance, Margaret, Schmidt, Michael, Mosley, Thomas H., Kuzma, Amanda, Lin, Han-Jen, Qu, Liming, Wang, Micah Childress, Li-San, Valladares, Otto, Gangadharan, Prabhakaran, Cweibel, Rebecca, Zhao, Yi, Chou, Yi-Fan, Naj, Adam, Mlynarski, Elisabeth, Schellenberg, Gerard, Malamon, John, Cantwell, Laura, Zhang, Nancy, Wang, Weixin, Leung, Yuk Yee, Boerwinkle, Eric, Bressler, Jan, Below, Jennifer E., Fornage, Myriam, Liu, Xiaoming, Jian, Xueqiu, Nato, Alejandro Q, Jr., Horimoto, Andrea R, Wang, Bowen, Psaty, Bruce, Witten, Daniela, Tsuang, Debby, Blue, Elizabeth, Wijsman, Ellen, Sohi, Harkirat, Nguyen, Hiep, Bis, Joshua C., Rice, Kenneth, Brown, Lisa, Dorschner, Michael, Saad, Mohamad, Navas, Pat, Nafikov, Rafael, Thornton, Timothy, Day, Tyler, Cruchaga, Carlos, Koboldt, Daniel C., Larson, David E., Appelbaum, Elizabeth, Waligorski, Jason, Antonacci-Fulton, Lucinda, Wilson, Richard K., and Fulton, Robert S.

Published
2018
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39. Supplementary Figure 4 from Activating HER2 Mutations in HER2 Gene Amplification Negative Breast Cancer

Author

Bose, Ron, primary, Kavuri, Shyam M., primary, Searleman, Adam C., primary, Shen, Wei, primary, Shen, Dong, primary, Koboldt, Daniel C., primary, Monsey, John, primary, Goel, Nicholas, primary, Aronson, Adam B., primary, Li, Shunqiang, primary, Ma, Cynthia X., primary, Ding, Li, primary, Mardis, Elaine R., primary, and Ellis, Matthew J., primary

Published
2023
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40. Supplementary Table 1 from Activating HER2 Mutations in HER2 Gene Amplification Negative Breast Cancer

Author

Bose, Ron, primary, Kavuri, Shyam M., primary, Searleman, Adam C., primary, Shen, Wei, primary, Shen, Dong, primary, Koboldt, Daniel C., primary, Monsey, John, primary, Goel, Nicholas, primary, Aronson, Adam B., primary, Li, Shunqiang, primary, Ma, Cynthia X., primary, Ding, Li, primary, Mardis, Elaine R., primary, and Ellis, Matthew J., primary

Published
2023
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41. Supplementary Figure 5 from Activating HER2 Mutations in HER2 Gene Amplification Negative Breast Cancer

Author

Bose, Ron, primary, Kavuri, Shyam M., primary, Searleman, Adam C., primary, Shen, Wei, primary, Shen, Dong, primary, Koboldt, Daniel C., primary, Monsey, John, primary, Goel, Nicholas, primary, Aronson, Adam B., primary, Li, Shunqiang, primary, Ma, Cynthia X., primary, Ding, Li, primary, Mardis, Elaine R., primary, and Ellis, Matthew J., primary

Published
2023
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43. Supplementary Figure 3 from Activating HER2 Mutations in HER2 Gene Amplification Negative Breast Cancer

Author

Bose, Ron, primary, Kavuri, Shyam M., primary, Searleman, Adam C., primary, Shen, Wei, primary, Shen, Dong, primary, Koboldt, Daniel C., primary, Monsey, John, primary, Goel, Nicholas, primary, Aronson, Adam B., primary, Li, Shunqiang, primary, Ma, Cynthia X., primary, Ding, Li, primary, Mardis, Elaine R., primary, and Ellis, Matthew J., primary

Published
2023
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44. Supplementary Figure 7 from Activating HER2 Mutations in HER2 Gene Amplification Negative Breast Cancer

Author

Bose, Ron, primary, Kavuri, Shyam M., primary, Searleman, Adam C., primary, Shen, Wei, primary, Shen, Dong, primary, Koboldt, Daniel C., primary, Monsey, John, primary, Goel, Nicholas, primary, Aronson, Adam B., primary, Li, Shunqiang, primary, Ma, Cynthia X., primary, Ding, Li, primary, Mardis, Elaine R., primary, and Ellis, Matthew J., primary

Published
2023
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45. Supplementary Figure 6 from Activating HER2 Mutations in HER2 Gene Amplification Negative Breast Cancer

Author

Bose, Ron, primary, Kavuri, Shyam M., primary, Searleman, Adam C., primary, Shen, Wei, primary, Shen, Dong, primary, Koboldt, Daniel C., primary, Monsey, John, primary, Goel, Nicholas, primary, Aronson, Adam B., primary, Li, Shunqiang, primary, Ma, Cynthia X., primary, Ding, Li, primary, Mardis, Elaine R., primary, and Ellis, Matthew J., primary

Published
2023
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46. Supplementary Figure 2 from Activating HER2 Mutations in HER2 Gene Amplification Negative Breast Cancer

Author

Bose, Ron, primary, Kavuri, Shyam M., primary, Searleman, Adam C., primary, Shen, Wei, primary, Shen, Dong, primary, Koboldt, Daniel C., primary, Monsey, John, primary, Goel, Nicholas, primary, Aronson, Adam B., primary, Li, Shunqiang, primary, Ma, Cynthia X., primary, Ding, Li, primary, Mardis, Elaine R., primary, and Ellis, Matthew J., primary

Published
2023
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47. Supplementary Figure 1 from Activating HER2 Mutations in HER2 Gene Amplification Negative Breast Cancer

Author

Bose, Ron, primary, Kavuri, Shyam M., primary, Searleman, Adam C., primary, Shen, Wei, primary, Shen, Dong, primary, Koboldt, Daniel C., primary, Monsey, John, primary, Goel, Nicholas, primary, Aronson, Adam B., primary, Li, Shunqiang, primary, Ma, Cynthia X., primary, Ding, Li, primary, Mardis, Elaine R., primary, and Ellis, Matthew J., primary

Published
2023
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48. Supplementary Figure Legend from Activating HER2 Mutations in HER2 Gene Amplification Negative Breast Cancer

Author

Bose, Ron, primary, Kavuri, Shyam M., primary, Searleman, Adam C., primary, Shen, Wei, primary, Shen, Dong, primary, Koboldt, Daniel C., primary, Monsey, John, primary, Goel, Nicholas, primary, Aronson, Adam B., primary, Li, Shunqiang, primary, Ma, Cynthia X., primary, Ding, Li, primary, Mardis, Elaine R., primary, and Ellis, Matthew J., primary

Published
2023
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