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Rbbp4 loss disrupts neural progenitor cell cycle regulation independent of Rb and leads to Tp53 acetylation and apoptosis
Schultz‐Rogers, Laura E., Thayer, Michelle L., Kambakam, Sekhar, Wierson, Wesley A., Helmer, Jordan A., Wishman, Mark D., Wall, Kristen A., Greig, Jessica L., Forsman, Jaimie L., Puchhalapalli, Kavya, Nair, Siddharth, Weiss, Trevor J., Luiken, Jon M., Blackburn, Patrick R., Ekker, Stephen C., Kool, Marcel, McGrail, Maura
Published in Developmental dynamics (01.08.2022)
Published in Developmental dynamics (01.08.2022)
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Journal Article
Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease
Fadra, Numrah, Schultz-Rogers, Laura E, Chanana, Pritha, Cousin, Margot A, Macke, Erica L, Ferrer, Alejandro, Pinto e Vairo, Filippo, Olson, Rory J, Oliver, Gavin R, Mulvihill, Lindsay A, Jenkinson, Garrett, Klee, Eric W
Published in BMC genomics (16.04.2024)
Published in BMC genomics (16.04.2024)
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Journal Article
Cre/lox regulated conditional rescue and inactivation with zebrafish UFlip alleles generated by CRISPR-Cas9 targeted integration
Liu, Fang, Kambakam, Sekhar, Almeida, Maira P, Ming, Zhitao, Welker, Jordan M, Wierson, Wesley A, Schultz-Rogers, Laura E, Ekker, Stephen C, Clark, Karl J, Essner, Jeffrey J, McGrail, Maura
Published in eLife (17.06.2022)
Published in eLife (17.06.2022)
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Journal Article
A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease
Oliver, Gavin R., Tang, Xiaojia, Schultz-Rogers, Laura E., Vidal-Folch, Noemi, Jenkinson, W. Garrett, Schwab, Tanya L., Gaonkar, Krutika, Cousin, Margot A., Nair, Asha, Basu, Shubham, Chanana, Pritha, Oglesbee, Devin, Klee, Eric W.
Published in PloS one (02.10.2019)
Published in PloS one (02.10.2019)
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Journal Article
SPECC1L regulates palate development downstream of IRF6
Hall, Everett G, Wenger, Luke W, Wilson, Nathan R, Undurty-Akella, Sraavya S, Standley, Jennifer, Augustine-Akpan, Eno-Abasi, Kousa, Youssef A, Acevedo, Diana S, Goering, Jeremy P, Pitstick, Lenore, Natsume, Nagato, Paroya, Shahnawaz M, Busch, Tamara D, Ito, Masaaki, Mori, Akihiro, Imura, Hideto, Schultz-Rogers, Laura E, Klee, Eric W, Babovic-Vuksanovic, Dusica, Kroc, Sarah A, Adeyemo, Wasiu L, Eshete, Mekonen A, Bjork, Bryan C, Suzuki, Satoshi, Murray, Jeffrey C, Schutte, Brian C, Butali, Azeez, Saadi, Irfan
Published in Human molecular genetics (27.03.2020)
Published in Human molecular genetics (27.03.2020)
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Journal Article
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity
Ernst, Michelle E., Baugh, Evan H., Thomas, Amanda, Bier, Louise, Lippa, Natalie, Stong, Nicholas, Mulhern, Maureen S., Kushary, Sulagna, Akman, Cigdem I., Heinzen, Erin L., Yeh, Raymond, Bi, Weimin, Hanchard, Neil A., Burrage, Lindsay C., Leduc, Magalie S., Chong, Josephine S. C., Bend, Renee, Lyons, Michael J., Lee, Jennifer A., Suwannarat, Pim, Brilstra, Eva, Simon, Marleen, Koopmans, Marije, Binsbergen, Ellen, Groepper, Daniel, Fleischer, Julie, Nava, Caroline, Keren, Boris, Mignot, Cyril, Mathieu, Sophie, Mancini, Grazia M. S., Madan‐Khetarpal, Suneeta, Infante, Elena M., Bluvstein, Judith, Seeley, Andrea, Bachman, Kristine, Klee, Eric W., Schultz‐Rogers, Laura E., Hasadsri, Linda, Barnett, Sarah, Ellingson, Marissa S., Ferber, Matthew J., Narayanan, Vinodh, Ramsey, Keri, Rauch, Anita, Joset, Pascal, Steindl, Katharina, Sheehan, Theodore, Poduri, Annapurna, Vasquez, Alejandra, Ruivenkamp, Claudia, White, Susan M., Pais, Lynn, Monaghan, Kristin G., Goldstein, David B., Sands, Tristan T., Aggarwal, Vimla
Published in Epilepsia (Copenhagen) (01.07.2021)
Published in Epilepsia (Copenhagen) (01.07.2021)
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Journal Article
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
Radio, Francesca Clementina, Ciolfi, Andrea, Levy, Michael A., Hernández-García, Andrés, Pedace, Lucia, Pantaleoni, Francesca, Liu, Zhandong, de Boer, Elke, Jackson, Adam, Bruselles, Alessandro, McConkey, Haley, Stellacci, Emilia, Lo Cicero, Stefania, Motta, Marialetizia, Carrozzo, Rosalba, McWalter, Kirsty, Desai, Megha, Monaghan, Kristin G., Telegrafi, Aida, Philippe, Christophe, Vitobello, Antonio, Au, Margaret, Grand, Katheryn, Baez, Joanne, Lindstrom, Kristin, Kulch, Peggy, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Roadhouse, Chelsea, MacKenzie, Jennifer J., Monteleone, Berrin, Saunders, Carol J., Jean Cuevas, July K., Zhou, Dihong, Sawyer, Sarah L., Monteiro, Fabíola Paoli, Secches, Tania Vertemati, Kok, Fernando, Schultz-Rogers, Laura E., Morava, Eva, Klee, Eric W., Kemppainen, Jennifer, Iascone, Maria, Selicorni, Angelo, Tenconi, Romano, Pais, Lynn, Gallacher, Lyndon, Turnpenny, Peter D., Stals, Karen, Ellard, Sian, Cabet, Sara, Lesca, Gaetan, Pascal, Joset, Steindl, Katharina, Weiss, Karin, Carter, Melissa T., Kalsner, Louisa, de Vries, Bert B.A., van Bon, Bregje W., Wevers, Marijke R., Pfundt, Rolph, Stegmann, Alexander P.A., Kerr, Bronwyn, Chandler, Kate E., Sheehan, Willow, Elias, Abdallah F., Shinde, Deepali N., Towne, Meghan C., Robin, Nathaniel H., Goodloe, Dana, Vanderver, Adeline, Sherbini, Omar, Bluske, Krista, Faletra, Flavio, Musante, Luciana, Kurtz-Nelson, Evangeline C., Earl, Rachel K., Anderlid, Britt-Marie, Morin, Gilles, van Slegtenhorst, Marjon, Diderich, Karin E.M., Brooks, Alice S., Gribnau, Joost, Boers, Ruben G., Finestra, Teresa Robert, Carter, Lauren B., Rauch, Anita, Gasparini, Paolo, Boycott, Kym M., Barakat, Tahsin Stefan, Graham, John M., Faivre, Laurence, Banka, Siddharth, Wang, Tianyun, Eichler, Evan E., Dallapiccola, Bruno, Vissers, Lisenka E.L.M., Sadikovic, Bekim, Holder, Jimmy Lloyd, Tartaglia, Marco
Published in American journal of human genetics (04.03.2021)
Published in American journal of human genetics (04.03.2021)
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Journal Article
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Cousin, Margot A., Creighton, Blake A., Breau, Keith A., Spillmann, Rebecca C., Torti, Erin, Dontu, Sruthi, Tripathi, Swarnendu, Ajit, Deepa, Edwards, Reginald J., Afriyie, Simone, Bay, Julia C., Harper, Kathryn M., Beltran, Alvaro A., Munoz, Lorena J., Falcon Rodriguez, Liset, Stankewich, Michael C., Person, Richard E., Si, Yue, Normand, Elizabeth A., Blevins, Amy, May, Alison S., Bier, Louise, Aggarwal, Vimla, Mancini, Grazia M. S., van Slegtenhorst, Marjon A., Cremer, Kirsten, Becker, Jessica, Engels, Hartmut, Aretz, Stefan, MacKenzie, Jennifer J., Brilstra, Eva, van Gassen, Koen L. I., van Jaarsveld, Richard H., Oegema, Renske, Parsons, Gretchen M., Mark, Paul, Helbig, Ingo, McKeown, Sarah E., Stratton, Robert, Cogne, Benjamin, Isidor, Bertrand, Cacheiro, Pilar, Smedley, Damian, Firth, Helen V., Bierhals, Tatjana, Kloth, Katja, Weiss, Deike, Fairley, Cecilia, Shieh, Joseph T., Kritzer, Amy, Jayakar, Parul, Kurtz-Nelson, Evangeline, Bernier, Raphael A., Wang, Tianyun, Eichler, Evan E., van de Laar, Ingrid M. B. H., McConkie-Rosell, Allyn, McDonald, Marie T., Kemppainen, Jennifer, Lanpher, Brendan C., Schultz-Rogers, Laura E., Gunderson, Lauren B., Pichurin, Pavel N., Yoon, Grace, Zech, Michael, Jech, Robert, Winkelmann, Juliane, Beltran, Adriana S., Zimmermann, Michael T., Temple, Brenda, Moy, Sheryl S., Klee, Eric W., Tan, Queenie K.-G., Lorenzo, Damaris N.
Published in Nature genetics (01.07.2021)
Published in Nature genetics (01.07.2021)
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Journal Article
BOREALIS: an R/Bioconductor package to detect outlier methylation from bisulfite sequencing data [version 1; peer review: 2 approved with reservations]
Oliver, Gavin R., Jenkinson, W. Garrett, Olson, Rory J., Schultz-Rogers, Laura E., Klee, Eric W.
Published in F1000 research (2022)
Published in F1000 research (2022)
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Journal Article
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Schultz‐Rogers, Laura E., Thayer, Michelle L., Kambakam, Sekhar, Wierson, Wesley A., Helmer, Jordan A., Wishman, Mark D., Wall, Kristen A., Greig, Jessica L., Forsman, Jaimie L., Puchhalapalli, Kavya, Nair, Siddharth, Weiss, Trevor J., Luiken, Jon M., Blackburn, Patrick R., Ekker, Stephen C., Kool, Marcel, McGrail, Maura
Published in Developmental dynamics (01.08.2022)
Published in Developmental dynamics (01.08.2022)
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Journal Article
Impact of integrated translational research on clinical exome sequencing
Klee, Eric W., Cousin, Margot A., Pinto e Vairo, Filippo, Morales-Rosado, Joel A., Macke, Erica L., Jenkinson, W. Garrett, Ferrer, Alejandro, Schultz-Rogers, Laura E., Olson, Rory J., Oliver, Gavin R., Sigafoos, Ashley N., Schwab, Tanya L., Zimmermann, Michael T., Urrutia, Raul A., Kaiwar, Charu, Gupta, Aditi, Blackburn, Patrick R., Boczek, Nicole J., Prochnow, Carri A., Lowy, Rebecca J., Mulvihill, Lindsay A., McAllister, Tammy M., Aoudia, Stacy L., Kruisselbrink, Teresa M., Gunderson, Lauren B., Kemppainen, Jennifer L., Fisher, Laura J., Tarnowski, Jessica M., Hager, Megan M., Kroc, Sarah A., Bertsch, Nicole L., Agre, Katherine E., Jackson, Jessica L., Macklin-Mantia, Sarah K., Murphree, Marine I., Rust, Laura M., Summer Bolster, Jolene M., Beck, Scott A., Atwal, Paldeep S., Ellingson, Marissa S., Barnett, Sarah S., Rasmussen, Kristen J., Lahner, Carrie A., Niu, Zhiyv, Hasadsri, Linda, Ferber, Matthew J., Marcou, Cherisse A., Clark, Karl J., Pichurin, Pavel N., Deyle, David R., Morava-Kozicz, Eva, Gavrilova, Ralitza H., Dhamija, Radhika, Wierenga, Klaas J., Lanpher, Brendan C., Babovic-Vuksanovic, Dusica, Farrugia, Gianrico, Schimmenti, Lisa A., Stewart, A. Keith, Lazaridis, Konstantinos N.
Published in Genetics in medicine (01.02.2023)
Published in Genetics in medicine (01.02.2023)
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Journal Article
Zebrafish Cre/lox regulated UFlip alleles generated by CRISPR/Cas targeted integration provide cell-type specific conditional gene inactivation
Almeida, Maira P, Sekhar Kambakam, Liu, Fang, Zhitao Ming, Welker, Jordan M, Wierson, Wesley A, Schultz-Rogers, Laura E, Ekker, Stephen C, Clark, Karl J, Essner, Jeffrey J, Mcgrail, Maura
Published in bioRxiv (18.06.2021)
Published in bioRxiv (18.06.2021)
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