Axenfeld-Rieger syndrome: more than meets the eye
Reis, Linda M., Maheshwari, Mohit, Capasso, Jenina, Atilla, Huban, Dudakova, Lubica, Thompson, Samuel, Zitano, Lia, Lay-Son, Guillermo, Lowry, R. Brian, Black, Jennifer, Lee, Joseph, Shue, Ann, Kremlikova Pourova, Radka, Vaneckova, Manuela, Skalicka, Pavlina, Jedlickova, Jana, Trkova, Marie, Williams, Bradley, Richard, Gabriele, Bachman, Kristine, Seeley, Andrea H., Costakos, Deborah, Glaser, Thomas M, Levin, Alex V., Liskova, Petra, Murray, Jeffrey C., Semina, Elena V.
Published in Journal of medical genetics (01.04.2023)
Published in Journal of medical genetics (01.04.2023)
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Journal Article
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
Kim, Jung-Hyun, Shinde, Deepali N., Reijnders, Margot R.F., Hauser, Natalie S., Belmonte, Rebecca L., Wilson, Gregory R., Bosch, Daniëlle G.M., Bubulya, Paula A., Shashi, Vandana, Petrovski, Slavé, Stone, Joshua K., Park, Eun Young, Veltman, Joris A., Sinnema, Margje, Stumpel, Connie T.R.M., Draaisma, Jos M., Nicolai, Joost, Yntema, Helger G., Lindstrom, Kristin, de Vries, Bert B.A., Jewett, Tamison, Santoro, Stephanie L., Vogt, Julie, Bachman, Kristine K., Seeley, Andrea H., Krokosky, Alyson, Turner, Clesson, Rohena, Luis, Hempel, Maja, Kortüm, Fanny, Lessel, Davor, Neu, Axel, Strom, Tim M., Wieczorek, Dagmar, Bramswig, Nuria, Laccone, Franco A., Behunova, Jana, Rehder, Helga, Gordon, Christopher T., Rio, Marlène, Romana, Serge, Tang, Sha, El-Khechen, Dima, Cho, Megan T., McWalter, Kirsty, Douglas, Ganka, Baskin, Berivan, Begtrup, Amber, Funari, Tara, Schoch, Kelly, Stegmann, Alexander P.A., Stevens, Servi J.C., Zhang, Dong-Er, Traver, David, Yao, Xu, MacArthur, Daniel G., Brunner, Han G., Mancini, Grazia M., Myers, Richard M., Owen, Laurie B., Lim, Ssang-Taek, Stachura, David L., Vissers, Lisenka E.L.M., Ahn, Eun-Young Erin
Published in American journal of human genetics (01.09.2016)
Published in American journal of human genetics (01.09.2016)
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Journal Article
Mutation update for the SATB2 gene
Zarate, Yuri A., Bosanko, Katherine A., Caffrey, Aisling R., Bernstein, Jonathan A., Martin, Donna M., Williams, Marc S., Berry‐Kravis, Elizabeth M., Mark, Paul R., Manning, Melanie A., Bhambhani, Vikas, Vargas, Marcelo, Seeley, Andrea H., Estrada‐Veras, Juvianee I., Dooren, Marieke F., Schwab, Maria, Vanderver, Adeline, Melis, Daniela, Alsadah, Adnan, Sadler, Laurie, Esch, Hilde, Callewaert, Bert, Oostra, Ann, Maclean, Jane, Dentici, Maria Lisa, Orlando, Valeria, Lipson, Mark, Sparagana, Steven P., Maarup, Timothy J., Alsters, Suzanne IM, Brautbar, Ariel, Kovitch, Eliana, Naidu, Sakkubai, Lees, Melissa, Smith, Douglas M., Turner, Lesley, Raggio, Víctor, Spangenberg, Lucía, Garcia‐Miñaúr, Sixto, Roeder, Elizabeth R., Littlejohn, Rebecca O., Grange, Dorothy, Pfotenhauer, Jean, Jones, Marilyn C., Balasubramanian, Meena, Martinez‐Monseny, Antonio, Blok, Lot Snijders, Gavrilova, Ralitza, Fish, Jennifer L.
Published in Human mutation (01.08.2019)
Published in Human mutation (01.08.2019)
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Journal Article
SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes
Kim, Jung-Hyun, Park, Eun Young, Chitayat, David, Stachura, David L., Schaper, Jörg, Lindstrom, Kristin, Jewett, Tamison, Wieczorek, Dagmar, Draaisma, Jos M., Sinnema, Margje, Hoeberigs, Christianne, Hempel, Maja, Bachman, Kristine K., Seeley, Andrea H., Stone, Joshua K., Kong, Hyun Kyung, Vukadin, Lana, Richard, Alexander, Shinde, Deepali N., McWalter, Kirsty, Si, Yue Cindy, Douglas, Ganka, Lim, Ssang-Taek, Vissers, Lisenka E.L.M., Lemaire, Mathieu, Ahn, Eun-Young Erin
Published in Kidney international (01.06.2019)
Published in Kidney international (01.06.2019)
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Journal Article
The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants
Wain, Karen E., Palen, Emily, Savatt, Juliann M., Shuman, Devin, Finucane, Brenda, Seeley, Andrea, Challman, Thomas D., Myers, Scott M., Martin, Christa Lese
Published in Human mutation (01.11.2018)
Published in Human mutation (01.11.2018)
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Journal Article
Teaching acoustics in an interdisciplinary context with 'singing' fish
Seeley, Lane H, Forlano, Paul M, Seeley, Andrea H, Sisneros, Joseph A
Published in European journal of physics (01.03.2019)
Published in European journal of physics (01.03.2019)
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Journal Article
Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents
Savatt, Juliann M, Wagner, Jennifer K, Joffe, Steven, Rahm, Alanna Kulchak, Williams, Marc S, Bradbury, Angela R, Davis, F Daniel, Hergenrather, Julie, Hu, Yirui, Kelly, Melissa A, Kirchner, H Lester, Meyer, Michelle N, Mozersky, Jessica, O'Dell, Sean M, Pervola, Josie, Seeley, Andrea, Sturm, Amy C, Buchanan, Adam H
Published in BMC pediatrics (15.05.2020)
Published in BMC pediatrics (15.05.2020)
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Journal Article
Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1-q24.2 contiguous gene deletion
Seeley, Andrea H., Durham, Mark A., Micale, Mark A., Wesolowski, Jeffrey, Foerster, Bradley R., Martin, Donna M.
Published in American journal of medical genetics. Part A (01.08.2014)
Published in American journal of medical genetics. Part A (01.08.2014)
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Journal Article
Pediatric Orthogenomics: The Latest Trends and Controversies
Sinha, Neha, A. Seeley, Mark, S. Horwitz, Daniel, Maniar, Hemil, H. Seeley, Andrea
Published in AIMS medical science (01.01.2017)
Published in AIMS medical science (01.01.2017)
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Journal Article
Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency
Quinonez, Shane C., Seeley, Andrea H., Lam, Cindy, Glover, Thomas W., Barshop, Bruce A., Keegan, Catherine E.
Published in JIMD Reports, Volume 34 (01.01.2017)
Published in JIMD Reports, Volume 34 (01.01.2017)
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Book Chapter
Journal Article
Trichorhinophalangeal Syndrome Orthopaedic Manifestations and Management: A Systematic Review
Ellison, Emily, Grampp, Steven J, Ellison, Seth, Seeley, Andrea, Seeley, Mark
Published in Journal of the American Academy of Orthopaedic Surgeons. Global research & reviews (01.08.2024)
Published in Journal of the American Academy of Orthopaedic Surgeons. Global research & reviews (01.08.2024)
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Journal Article
Hip Dysplasia and Osteogenesis Imperfecta: A Case Report
Mandel, Mark, Saloky, Kaitlin, Mirenda, William, Seeley, Andrea, Seeley, Mark
Published in JBJS case connector (20.10.2020)
Published in JBJS case connector (20.10.2020)
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Journal Article
Cancers from Novel Pole -Mutant Mouse Models Provide Insights into Polymerase-Mediated Hypermutagenesis and Immune Checkpoint Blockade
Galati, Melissa A, Hodel, Karl P, Gams, Miki S, Sudhaman, Sumedha, Bridge, Taylor, Zahurancik, Walter J, Ungerleider, Nathan A, Park, Vivian S, Ercan, Ayse B, Joksimovic, Lazar, Siddiqui, Iram, Siddaway, Robert, Edwards, Melissa, de Borja, Richard, Elshaer, Dana, Chung, Jiil, Forster, Victoria J, Nunes, Nuno M, Aronson, Melyssa, Wang, Xia, Ramdas, Jagadeesh, Seeley, Andrea, Sarosiek, Tomasz, Dunn, Gavin P, Byrd, Jonathan N, Mordechai, Oz, Durno, Carol, Martin, Alberto, Shlien, Adam, Bouffet, Eric, Suo, Zucai, Jackson, James G, Hawkins, Cynthia E, Guidos, Cynthia J, Pursell, Zachary F, Tabori, Uri
Published in Cancer research (Chicago, Ill.) (15.12.2020)
Published in Cancer research (Chicago, Ill.) (15.12.2020)
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Journal Article
GATAD2B-associated neurodevelopmental disorder (GAND) : clinical and molecular insights into a NuRD-related disorder
Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y, Silva, Ana P G, Lee, Hane, Douine, Emilie D, Otero, Maria G, Choi, Andrew, Grand, Katheryn, Taff, Ingrid P, Delgado, Mauricio R, Hajianpour, M J, Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W, Vergano, Samantha A, Mahida, Sonal, Naidu, Sakkubai, Fonseca Vieira Álvares Sousa Ferrand Almeida, Ana Berta, Wain, Karen E, Challman, Thomas D, Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J, Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren D M, Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A, Hurst, Jane, Fitzpatrick, David R, Morton, Jenny E V, Cox, Helen, Venkateswaran, Sunita, Young, Juan I, Marsh, Eric D, Nelson, Stanley F, Martinez, Julian A, Graham, John M, Kini, Usha, Mackay, Joel P, Pierson, Tyler Mark
Published in Genetics in medicine (01.05.2020)
Published in Genetics in medicine (01.05.2020)
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Journal Article
GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder
Shieh, Christine, Jones, Natasha, Vanle Brigitte, Au, Margaret, Huang, Alden Y, Silva, Ana P, Hane, Lee, Douine, Emilie D, Otero, Maria G, Choi, Andrew, Grand Katheryn, Taff, Ingrid P, Delgado, Mauricio R, Hajianpour, M J, Seeley, Andrea, Rohena Luis, Vernon, Hilary, Gripp, Karen W, Vergano Samantha A, Mahida Sonal, Naidu Sakkubai, Sousa, Ana Berta, Wain, Karen E, Challman, Thomas D, Beek, Geoffrey, Basel Donald, Ranells, Judith, Smith, Rosemarie, Yusupov Roman, Mary-Louise, Freckmann, Ohden Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J, Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena Loren D M, Metcalfe, Kay, Splitt Miranda, Lachlan, Katherine, McKee, Shane A, Hurst, Jane, Fitzpatrick, David R, Morton, Jenny E, Cox, Helen, Venkateswaran Sunita, Young, Juan I, Marsh, Eric D, Nelson, Stanley F, Martinez, Julian A, Graham, John M, Kini Usha, Mackay, Joel P, Pierson, Tyler Mark
Published in Genetics in medicine (01.05.2020)
Published in Genetics in medicine (01.05.2020)
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Journal Article