Search Results - "Wilfert, Amy"

Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders by Turner, Tychele N., Wilfert, Amy B., Bakken, Trygve E., Bernier, Raphael A., Pepper, Micah R., Zhang, Zhancheng, Torene, Rebecca I., Retterer, Kyle, Eichler, Evan E.

“…While genes with an excess of de novo mutations (DNMs) have been identified in children with neurodevelopmental disorders (NDDs), few studies focus on DNM…”
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Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications by Wilfert, Amy B, Sulovari, Arvis, Turner, Tychele N, Coe, Bradley P, Eichler, Evan E

“…Next-generation sequencing (NGS) is now more accessible to clinicians and researchers. As a result, our understanding of the genetics of neurodevelopmental…”
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Recent ultra-rare inherited variants implicate new autism candidate risk genes by Wilfert, Amy B., Turner, Tychele N., Murali, Shwetha C., Hsieh, PingHsun, Sulovari, Arvis, Wang, Tianyun, Coe, Bradley P., Guo, Hui, Hoekzema, Kendra, Bakken, Trygve E., Winterkorn, Lara H., Evani, Uday S., Byrska-Bishop, Marta, Earl, Rachel K., Bernier, Raphael A., Zody, Michael C., Eichler, Evan E.

“…Autism is a highly heritable complex disorder in which de novo mutation (DNM) variation contributes significantly to risk. Using whole-genome sequencing data…”
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Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1 by Lopes, Alexandra M, Aston, Kenneth I, Thompson, Emma, Carvalho, Filipa, Gonçalves, João, Huang, Ni, Matthiesen, Rune, Noordam, Michiel J, Quintela, Inés, Ramu, Avinash, Seabra, Catarina, Wilfert, Amy B, Dai, Juncheng, Downie, Jonathan M, Fernandes, Susana, Guo, Xuejiang, Sha, Jiahao, Amorim, António, Barros, Alberto, Carracedo, Angel, Hu, Zhibin, Hurles, Matthew E, Moskovtsev, Sergey, Ober, Carole, Paduch, Darius A, Schiffman, Joshua D, Schlegel, Peter N, Sousa, Mário, Carrell, Douglas T, Conrad, Donald F

“…Gonadal failure, along with early pregnancy loss and perinatal death, may be an important filter that limits the propagation of harmful mutations in the human…”
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Genome-wide significance testing of variation from single case exomes by Wilfert, Amy B, Chao, Katherine R, Kaushal, Madhurima, Jain, Sanjay, Zöllner, Sebastian, Adams, David R, Conrad, Donald F

“…Donald Conrad and colleagues present a method, PSAP, for prioritizing potential Mendelian disease-causing variants in single human exomes using pathogenicity…”
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Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity by Goldmann, Jakob M, Hampstead, Juliet E, Wong, Wendy S W, Wilfert, Amy B, Turner, Tychele N, Jonker, Marianne A, Bernier, Raphael, Huynen, Martijn A, Eichler, Evan E, Veltman, Joris A, Maxwell, George L, Gilissen, Christian

“…The number of de novo mutations (DNMs) in the human germline is correlated with parental age at conception, but this explains only part of the observed…”
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Single-cell epigenomics reveals mechanisms of human cortical development by Ziffra, Ryan S., Kim, Chang N., Ross, Jayden M., Wilfert, Amy, Turner, Tychele N., Haeussler, Maximilian, Casella, Alex M., Przytycki, Pawel F., Keough, Kathleen C., Shin, David, Bogdanoff, Derek, Kreimer, Anat, Pollard, Katherine S., Ament, Seth A., Eichler, Evan E., Ahituv, Nadav, Nowakowski, Tomasz J.

“…During mammalian development, differences in chromatin state coincide with cellular differentiation and reflect changes in the gene regulatory landscape 1 . In…”
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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders by Guo, Hui, Bettella, Elisa, Marcogliese, Paul C., Zhao, Rongjuan, Andrews, Jonathan C., Nowakowski, Tomasz J., Gillentine, Madelyn A., Hoekzema, Kendra, Wang, Tianyun, Wu, Huidan, Jangam, Sharayu, Liu, Cenying, Ni, Hailun, Willemsen, Marjolein H., van Bon, Bregje W., Rinne, Tuula, Stevens, Servi J. C., Kleefstra, Tjitske, Brunner, Han G., Yntema, Helger G., Long, Min, Zhao, Wenjing, Hu, Zhengmao, Colson, Cindy, Richard, Nicolas, Schwartz, Charles E., Romano, Corrado, Castiglia, Lucia, Bottitta, Maria, Dhar, Shweta U., Erwin, Deanna J., Emrick, Lisa, Keren, Boris, Afenjar, Alexandra, Zhu, Baosheng, Bai, Bing, Stankiewicz, Pawel, Herman, Kristin, Mercimek-Andrews, Saadet, Juusola, Jane, Wilfert, Amy B., Abou Jamra, Rami, Büttner, Benjamin, Mefford, Heather C., Muir, Alison M., Scheffer, Ingrid E., Regan, Brigid M., Malone, Stephen, Gecz, Jozef, Cobben, Jan, Weiss, Marjan M., Waisfisz, Quinten, Bijlsma, Emilia K., Hoffer, Mariëtte J. V., Ruivenkamp, Claudia A. L., Sartori, Stefano, Xia, Fan, Rosenfeld, Jill A., Bernier, Raphael A., Wangler, Michael F., Yamamoto, Shinya, Xia, Kun, Stegmann, Alexander P. A., Bellen, Hugo J., Murgia, Alessandra, Eichler, Evan E.

“…Postsynaptic density (PSD) proteins have been implicated in the pathophysiology of neurodevelopmental and psychiatric disorders. Here, we present detailed…”
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Recent ultra-rare inherited variants implicate novel autism candidate risk genes by Wilfert, Amy B., Turner, Tychele N., Murali, Shwetha C., Hsieh, PingHsun, Sulovari, Arvis, Wang, Tianyun, Coe, Bradley P., Guo, Hui, Hoekzema, Kendra, Bakken, Trygve E., Winterkorn, Lara H., Evani, Uday S., Byrska-Bishop, Marta, Earl, Rachel K., Bernier, Raphael A., Zody, Michael C., Eichler, Evan E.

“…Autism is a highly heritable complex disorder where de novo mutation (DNM) variation contributes significantly to risk. Using whole-genome sequencing data from…”
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Genomewide significance testing of variation from single case exomes by Wilfert, Amy B., Chao, Katherine R., Kaushal, Madhurima, Jain, Sanjay, Zöllner, Sebastian, Adams, David R., Conrad, Donald F.

“…Standard techniques from genetic epidemiology are ill-suited to formally assess the significance of variants identified from a single case. We developed a…”
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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (vol 11, 4932, 2020) by Wang, T, Hoekzema, K, Vecchio, D, Wu, H, Sulovari, A, Coe, BP, Gillentine, MA, Wilfert, AB, Perez-Jurado, LA, Kvarnung, M

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Making Sense of Singletons: The N-of-One Problem in Human Genetics by Wilfert, Amy B

“…The diagnosis of rare, idiopathic diseases is emerging as a primary application of medical genome sequencing. However, the application of standard tools from…”
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Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1: e1003349 by Lopes, Alexandra M, Aston, Kenneth I, Thompson, Emma, Carvalho, Filipa, Gonçalves, João, Huang, Ni, Matthiesen, Rune, Noordam, Michiel J, Quintela, Inés, Ramu, Avinash, Seabra, Catarina, Wilfert, Amy B, Dai, Juncheng, Downie, Jonathan M, Fernandes, Susana, Guo, Xuejiang, Sha, Jiahao, Amorim, António, Barros, Alberto, Carracedo, Angel, Hu, Zhibin, Hurles, Matthew E, Moskovtsev, Sergey, Ober, Carole, Paduch, Darius A, Schiffman, Joshua D, Schlegel, Peter N, Sousa, Mário, Carrell, Douglas T, Conrad, Donald F

“…Gonadal failure, along with early pregnancy loss and perinatal death, may be an important filter that limits the propagation of harmful mutations in the human…”
Get full text