Zoekresultaten - O’Donnell-Luria, Anne H.

ClinVar data parsing door Zhang, Xiaolei, Minikel, Eric V., O'Donnell-Luria, Anne H., MacArthur, Daniel G., Ware, James S., Weisburd, Ben

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Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population door Nakka, Priyanka, Pattillo Smith, Samuel, O’Donnell-Luria, Anne H., McManus, Kimberly F., Mountain, Joanna L., Ramachandran, Sohini, Sathirapongsasuti, J. Fah

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Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome door Carlston, Colleen M., O’Donnell-Luria, Anne H., Underhill, Hunter R., Cummings, Beryl B., Weisburd, Ben, Minikel, Eric V., Birnbaum, Daniel P., Tvrdik, Tatiana, MacArthur, Daniel G., Mao, Rong

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Using high-resolution variant frequencies to empower clinical genome interpretation door Whiffin, Nicola, Minikel, Eric, Walsh, Roddy, O’Donnell-Luria, Anne H, Karczewski, Konrad, Ing, Alexander Y, Barton, Paul J R, Funke, Birgit, Cook, Stuart A, MacArthur, Daniel, Ware, James S

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Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes door Wang, Qingbo, Pierce-Hoffman, Emma, Cummings, Beryl B., Alföldi, Jessica, Francioli, Laurent C., Gauthier, Laura D., Hill, Andrew J., O’Donnell-Luria, Anne H., Karczewski, Konrad J., MacArthur, Daniel G.

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Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes door Wang, Qingbo, Pierce-Hoffman, Emma, Cummings, Beryl B., Alföldi, Jessica, Francioli, Laurent C., Gauthier, Laura D., Hill, Andrew J., O’Donnell-Luria, Anne H., Karczewski, Konrad J., MacArthur, Daniel G.

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matchbox: An open-source tool for patient matching via the Matchmaker Exchange door Arachchi, Harindra, Wojcik, Monica H, Weisburd, Benjamin, Jacobsen, Julius O. B., Valkanas, Elise, Baxter, Samantha, Byrne, Alicia B., O’Donnell-Luria, Anne H., Haendel, Melissa, Smedley, Damian, MacArthur, Daniel G., Philippakis, Anthony A., Rehm, Heidi L.

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Apcdd1 is a dual BMP/Wnt inhibitor in the developing nervous system and skin door Vonica, Alin, Bhat, Neha, Phan, Keith, Guo, Jinbai, Iancu, Lăcrimioara, Weber, Jessica A., Karger, Amir, Cain, John W., Wang, Etienne C. E., DeStefano, Gina M., O’Donnell-Luria, Anne H., Christiano, Angela M., Riley, Bruce, Butler, Samantha J., Luria, Victor

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Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture door Whiffin, Nicola, Roberts, Angharad M., Minikel, Eric, Zappala, Zach, Walsh, Roddy, O’Donnell-Luria, Anne H., Karczewski, Konrad J., Harrison, Steven M., Thomson, Kate L., Sage, Helen, Ing, Alexander Y., Barton, Paul J.R., Funke, Birgit, Cook, Stuart A., MacArthur, Daniel G., Ware, James S.

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Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes door Schmitz-Abe, Klaus, Li, Qifei, Rosen, Samantha M., Nori, Neeharika, Madden, Jill A., Genetti, Casie A., Wojcik, Monica H., Ponnaluri, Sadhana, Gubbels, Cynthia S., Picker, Jonathan D., O’Donnell-Luria, Anne H., Yu, Timothy W., Bodamer, Olaf, Brownstein, Catherine A., Beggs, Alan H., Agrawal, Pankaj B.

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Transcript expression-aware annotation improves rare variant interpretation door Cummings, Beryl B., Karczewski, Konrad J., Kosmicki, Jack A., Seaby, Eleanor G., Watts, Nicholas A., Singer-Berk, Moriel, Mudge, Jonathan M., Karjalainen, Juha, Satterstrom, F. Kyle, O’Donnell-Luria, Anne H., Poterba, Timothy, Seed, Cotton, Solomonson, Matthew, Alföldi, Jessica, Daly, Mark J., MacArthur, Daniel G.

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Author Correction: Transcript expression-aware annotation improves rare variant interpretation door Cummings, Beryl B., Karczewski, Konrad J., Kosmicki, Jack A., Seaby, Eleanor G., Watts, Nicholas A., Singer-Berk, Moriel, Mudge, Jonathan M., Karjalainen, Juha, Satterstrom, F. Kyle, O’Donnell-Luria, Anne H., Poterba, Timothy, Seed, Cotton, Solomonson, Matthew, Alföldi, Jessica, Daly, Mark J., MacArthur, Daniel G.

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Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals door Whiffin, Nicola, Karczewski, Konrad J., Zhang, Xiaolei, Chothani, Sonia, Smith, Miriam J., Evans, D. Gareth, Roberts, Angharad M., Quaife, Nicholas M., Schafer, Sebastian, Rackham, Owen, Alföldi, Jessica, O’Donnell-Luria, Anne H., Francioli, Laurent C., Cook, Stuart A., Barton, Paul J. R., MacArthur, Daniel G., Ware, James S.

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Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals door Whiffin, Nicola, Karczewski, Konrad J., Zhang, Xiaolei, Chothani, Sonia, Smith, Miriam J., Evans, D. Gareth, Roberts, Angharad M., Quaife, Nicholas M., Schafer, Sebastian, Rackham, Owen, Alföldi, Jessica, O’Donnell-Luria, Anne H., Francioli, Laurent C., Cook, Stuart A., Barton, Paul J. R., MacArthur, Daniel G., Ware, James S.

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Genes To Mental Health (G2MH): A framework to map the combined effects of rare and common variants on dimensions of cognition and psychopathology door Jacquemont, Sébastien, Huguet, Guillaume, Klein, Marieke, Chawner, Samuel J.R.A., Donald, Kirsten A., van den Bree, Marianne B.M., Sebat, Jonathan, Ledbetter, David H., Constantino, John, Earl, Rachel K., McDonald-McGinn, Donna, van Amelsvoort, Therese, Swillen, Ann, O’Donnell-Luria, Anne H, Glahn, David C., Almasy, Laura, Scherer, Stephen, Robinson, Elise, Bassett, Anne S., Martin, Christa L., Finucane, Brenda, Vorstman, Jacob A.S., Bearden, Carrie E., Gur, Raquel E.

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Improving genetic diagnosis in Mendelian disease with transcriptome sequencing door Cummings, Beryl B., Marshall, Jamie L., Tukiainen, Taru, Lek, Monkol, Donkervoort, Sandra, Foley, A. Reghan, Bolduc, Veronique, Waddell, Leigh B., Sandaradura, Sarah A., O’Grady, Gina L., Estrella, Elicia, Reddy, Hemakumar M., Zhao, Fengmei, Weisburd, Ben, Karczewski, Konrad J., O’Donnell-Luria, Anne H., Birnbaum, Daniel, Sarkozy, Anna, Hu, Ying, Gonorazky, Hernan, Claeys, Kristl, Joshi, Himanshu, Bournazos, Adam, Oates, Emily C., Ghaoui, Roula, Davis, Mark R., Laing, Nigel G., Topf, Ana, Kang, Peter B., Beggs, Alan H., North, Kathryn N., Straub, Volker, Dowling, James J., Muntoni, Francesco, Clarke, Nigel F., Cooper, Sandra T., Bönnemann, Carsten G., MacArthur, Daniel G.

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Insights into genetics, human biology and disease gleaned from family based genomic studies door Posey, Jennifer E, O’Donnell-Luria, Anne H, Chong, Jessica X, Harel, Tamar, Jhangiani, Shalini N, Akdemir, Zeynep H Coban, Buyske, Steven, Pehlivan, Davut, Carvalho, Claudia M B, Baxter, Samantha, Sobreira, Nara, Liu, Pengfei, Wu, Nan, Rosenfeld, Jill A, Kumar, Sushant, Avramopoulos, Dimitri, White, Janson J., Doheny, Kimberly F., Witmer, P. Dane, Boehm, Corinne, Sutton, V Reid, Muzny, Donna M., Boerwinkle, Eric, Günel, Murat, Nickerson, Deborah A., Mane, Shrikant, MacArthur, Daniel G, Gibbs, Richard A, Hamosh, Ada, Lifton, Richard P, Matise, Tara C, Rehm, Heidi L, Gerstein, Mark, Bamshad, Michael J, Valle, David, Lupski, James R

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Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity door Saleheen, Danish, Natarajan, Pradeep, Armean, Irina M., Zhao, Wei, Rasheed, Asif, Khetarpal, Sumeet, Won, Hong-Hee, Karczewski, Konrad J., O’Donnell-Luria, Anne H., Samocha, Kaitlin E., Weisburd, Benjamin, Gupta, Namrata, Zaidi, Mozzam, Samuel, Maria, Imran, Atif, Abbas, Shahid, Majeed, Faisal, Ishaq, Madiha, Akhtar, Saba, Trindade, Kevin, Mucksavage, Megan, Qamar, Nadeem, Zaman, Khan Shah, Yaqoob, Zia, Saghir, Tahir, Rizvi, Syed Nadeem Hasan, Memon, Anis, Mallick, Nadeem Hayyat, Ishaq, Mohammad, Rasheed, Syed Zahed, Memon, Fazal-ur-Rehman, Mahmood, Khalid, Ahmed, Naveeduddin, Do, Ron, Krauss, Ronald M., MacArthur, Daniel G., Gabriel, Stacey, Lander, Eric S., Daly, Mark J., Frossard, Philippe, Danesh, John, Rader, Daniel J., Kathiresan, Sekar

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The Genetic Landscape of Diamond-Blackfan Anemia door Ulirsch, Jacob C., Verboon, Jeffrey M., Kazerounian, Shideh, Guo, Michael H., Yuan, Daniel, Ludwig, Leif S., Handsaker, Robert E., Abdulhay, Nour J., Fiorini, Claudia, Genovese, Giulio, Lim, Elaine T., Cheng, Aaron, Cummings, Beryl B., Chao, Katherine R., Beggs, Alan H., Genetti, Casie A., Sieff, Colin A., Newburger, Peter E., Niewiadomska, Edyta, Matysiak, Michal, Vlachos, Adrianna, Lipton, Jeffrey M., Atsidaftos, Eva, Glader, Bertil, Narla, Anupama, Gleizes, Pierre-Emmanuel, O’Donohue, Marie-Françoise, Montel-Lehry, Nathalie, Amor, David J., McCarroll, Steven A., O’Donnell-Luria, Anne H., Gupta, Namrata, Gabriel, Stacey B., MacArthur, Daniel G., Lander, Eric S., Lek, Monkol, Da Costa, Lydie, Nathan, David G., Korostelev, Andrei A., Do, Ron, Sankaran, Vijay G., Gazda, Hanna T.

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The Genetic Landscape of Diamond-Blackfan Anemia door Ulirsch, Jacob C., Verboon, Jeffrey M., Kazerounian, Shideh, Guo, Michael H., Yuan, Daniel, Ludwig, Leif S., Handsaker, Robert E., Abdulhay, Nour J., Fiorini, Claudia, Genovese, Giulio, Lim, Elaine T., Cheng, Aaron, Cummings, Beryl B., Chao, Katherine R., Beggs, Alan H., Genetti, Casie A., Sieff, Colin A., Newburger, Peter E., Niewiadomska, Edyta, Matysiak, Michal, Vlachos, Adrianna, Lipton, Jeffrey M., Atsidaftos, Eva, Glader, Bertil, Narla, Anupama, Gleizes, Pierre-Emmanuel, O’Donohue, Marie-Françoise, Montel-Lehry, Nathalie, Amor, David J., McCarroll, Steven A., O’Donnell-Luria, Anne H., Gupta, Namrata, Gabriel, Stacey B., MacArthur, Daniel G., Lander, Eric S., Lek, Monkol, Da Costa, Lydie, Nathan, David G., Korostelev, Andrei A., Do, Ron, Sankaran, Vijay G., Gazda, Hanna T.

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