BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
Barish, Scott, Barakat, Tahsin Stefan, Michel, Brittany C., Mashtalir, Nazar, Phillips, Jennifer B., Valencia, Alfredo M., Ugur, Berrak, Wegner, Jeremy, Scott, Tiana M., Bostwick, Brett, Murdock, David R., Dai, Hongzheng, Perenthaler, Elena, Nikoncuk, Anita, van Slegtenhorst, Marjon, Brooks, Alice S., Keren, Boris, Nava, Caroline, Mignot, Cyril, Douglas, Jessica, Rodan, Lance, Nowak, Catherine, Ellard, Sian, Stals, Karen, Lynch, Sally Ann, Faoucher, Marie, Lesca, Gaetan, Edery, Patrick, Engleman, Kendra L., Zhou, Dihong, Thiffault, Isabelle, Herriges, John, Gass, Jennifer, Louie, Raymond J., Stolerman, Elliot, Washington, Camerun, Vetrini, Francesco, Otsubo, Aiko, Pratt, Victoria M., Conboy, Erin, Treat, Kayla, Shannon, Nora, Camacho, Jose, Wakeling, Emma, Yuan, Bo, Chen, Chun-An, Rosenfeld, Jill A., Westerfield, Monte, Wangler, Michael, Yamamoto, Shinya, Kadoch, Cigall, Scott, Daryl A., Bellen, Hugo J.
Published in American journal of human genetics (03.12.2020)
Published in American journal of human genetics (03.12.2020)
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Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype
Lebaron, Simon, O'Donohue, Marie‐Françoise, Smith, Scott C., Engleman, Kendra L., Juusola, Jane, Safina, Nicole P., Thiffault, Isabelle, Saunders, Carol J., Gleizes, Pierre‐Emmanuel
Published in Human mutation (01.03.2022)
Published in Human mutation (01.03.2022)
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Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4‐related disease
Cadieux‐Dion, Maxime, Hughes, Susan, Engleman, Kendra, Rush, Eric T., Saunders, Carol
Published in American journal of medical genetics. Part A (01.05.2021)
Published in American journal of medical genetics. Part A (01.05.2021)
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Insurance denials and diagnostic rates in a pediatric genomic research cohort
Zion, Tricia N., Berrios, Courtney D., Cohen, Ana S.A., Bartik, Lauren, Cross, Laura A., Engleman, Kendra L., Fleming, Emily A., Gadea, Randi N., Hughes, Susan S., Jenkins, Janda L., Kussmann, Jennifer, Lawson, Caitlin, Schwager, Caitlin, Strenk, Meghan E., Welsh, Holly, Rush, Eric T., Amudhavalli, Shivarajan M., Sullivan, Bonnie R., Zhou, Dihong, Gannon, Jennifer L., Heese, Bryce A., Moore, Riley, Boillat, Emelia, Biswell, Rebecca L., Louiselle, Daniel A., Puckett, Laura M.B., Beyer, Shanna, Neal, Shelby H., Sierant, Victoria, McBeth, Macy, Belden, Bradley, Walter, Adam M., Gibson, Margaret, Cheung, Warren A., Johnston, Jeffrey J., Thiffault, Isabelle, Farrow, Emily G., Grundberg, Elin, Pastinen, Tomi
Published in Genetics in medicine (01.05.2023)
Published in Genetics in medicine (01.05.2023)
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De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy
Singh, Sakshi, Gupta, Aditi, Zech, Michael, Sigafoos, Ashley N., Clark, Karl J., Dincer, Yasemin, Wagner, Matias, Humberson, Jennifer B., Green, Sarah, van Gassen, Koen, Brandt, Tracy, Schnur, Rhonda E., Millan, Francisca, Si, Yue, Mall, Volker, Winkelmann, Juliane, Gavrilova, Ralitza H., Klee, Eric W., Engleman, Kendra, Safina, Nicole P., Slaugh, Rachel, Bryant, Emily M., Tan, Wen-Hann, Granadillo, Jorge, Misra, Sunita N., Schaefer, G. Bradley, Towner, Shelley, Brilstra, Eva H., Koeleman, Bobby P. C.
Published in Genetics in medicine (01.08.2020)
Published in Genetics in medicine (01.08.2020)
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New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome
Chater-Diehl, Eric, Ejaz, Resham, Cytrynbaum, Cheryl, Siu, Michelle T, Turinsky, Andrei, Choufani, Sanaa, Goodman, Sarah J, Abdul-Rahman, Omar, Bedford, Melanie, Dorrani, Naghmeh, Engleman, Kendra, Flores-Daboub, Josue, Genevieve, David, Mendoza-Londono, Roberto, Meschino, Wendy, Perrin, Laurence, Safina, Nicole, Townshend, Sharron, Scherer, Stephen W, Anagnostou, Evdokia, Piton, Amelie, Deardorff, Matthew, Brudno, Michael, Chitayat, David, Weksberg, Rosanna
Published in BMC medical genomics (09.07.2019)
Published in BMC medical genomics (09.07.2019)
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Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report
Cadieux-Dion, Maxime, Safina, Nicole P, Engleman, Kendra, Saunders, Carol, Repnikova, Elena, Raje, Nikita, Canty, Kristi, Farrow, Emily, Miller, Neil, Zellmer, Lee, Thiffault, Isabelle
Published in BMC medical genetics (09.03.2018)
Published in BMC medical genetics (09.03.2018)
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P571: Expanding the genetic and phenotypic spectrum of cohesinopathies in a single center
Thiffault, Isabelle, Alaimo, Joseph, Paolillo, Vitoria, Del Viso, Florencia, Cohen, Ana, Farrow, Emily, Starling, Susan, Humphrey, Maggie, Schwager, Caitlin, Bartik, Lauren, Engleman, Kendra, Cross, Laura, Welsh, Holly, Rush, Eric, Amudhavalli, Shivarajan, Sullivan, Bonnie, Zhou, Dihong, Shaffer, Elizabeth, Baig, Waseem, Zellmer, Lee, Rindler, Mary, Zion, Tricia, Boillat, Emelia, Pastinen, Tomi, Saunders, Carol
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer
Yan, Kezhi, Rousseau, Justine, Machol, Keren, Cross, Laura A, Agre, Katherine E, Gibson, Cynthia Forster, Goverde, Anne, Engleman, Kendra L, Verdin, Hannah, De Baere, Elfride, Potocki, Lorraine, Zhou, Dihong, Cadieux-Dion, Maxime, Bellus, Gary A, Wagner, Monisa D, Hale, Rebecca J, Esber, Natacha, Riley, Alan F, Solomon, Benjamin D, Cho, Megan T, McWalter, Kirsty, Eyal, Roy, Hainlen, Meagan K, Mendelsohn, Bryce A, Porter, Hillary M, Lanpher, Brendan C, Lewis, Andrea M, Savatt, Juliann, Thiffault, Isabelle, Callewaert, Bert, Campeau, Philippe M, Yang, Xiang-Jiao
Published in Science advances (01.01.2020)
Published in Science advances (01.01.2020)
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Pseudo-Dystonia and Marked Intrafamilial Variability in CADM3-Related Disease
Coffman, Keith, Engleman, Kendra, Shaffer, Elizabeth, Allison, Tyler, Saunders, Carol
Published in Pediatric neurology (01.07.2023)
Published in Pediatric neurology (01.07.2023)
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Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
Kummeling, Joost, Stremmelaar, Diante E., Raun, Nicholas, Reijnders, Margot R. F., Willemsen, Marjolein H., Ruiterkamp-Versteeg, Martina, Schepens, Marga, Man, Calvin C. O., Gilissen, Christian, Cho, Megan T., McWalter, Kirsty, Sinnema, Margje, Wheless, James W., Simon, Marleen E. H., Genetti, Casie A., Casey, Alicia M., Terhal, Paulien A., van der Smagt, Jasper J., van Gassen, Koen L. I., Joset, Pascal, Bahr, Angela, Steindl, Katharina, Rauch, Anita, Keller, Elmar, Raas-Rothschild, Annick, Koolen, David A., Agrawal, Pankaj B., Hoffman, Trevor L., Powell-Hamilton, Nina N., Thiffault, Isabelle, Engleman, Kendra, Zhou, Dihong, Bodamer, Olaf, Hoefele, Julia, Riedhammer, Korbinian M., Schwaibold, Eva M. C., Tasic, Velibor, Schubert, Dirk, Top, Deniz, Pfundt, Rolph, Higgs, Martin R., Kramer, Jamie M., Kleefstra, Tjitske
Published in Molecular psychiatry (01.06.2021)
Published in Molecular psychiatry (01.06.2021)
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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
Mullegama, Sureni V., Kiernan, Kaitlyn A., Torti, Erin, Pavlovsky, Ethan, Tilton, Nicholas, Sekula, Austin, Gao, Hua, Alaimo, Joseph T., Engleman, Kendra, Rush, Eric T., Blocker, Karli, Dipple, Katrina M., Fettig, Veronica M., Hare, Heather, Glass, Ian, Grange, Dorothy K., Griffin, Michael, Phornphutkul, Chanika, Massingham, Lauren, Mehta, Lakshmi, Miller, Danny E., Thies, Jenny, Merritt, J Lawrence, Muller, Eric, Osmond, Matthew, Sawyer, Sarah L., Slaugh, Rachel, Hickey, Rachel E., Wolf, Barry, Choudhary, Sanjeev, Simonović, Miljan, Zhang, Yueqing, Palculict, Timothy Blake, Telegrafi, Aida, Carere, Deanna Alexis, Wentzensen, Ingrid M., Morrow, Michelle M., Monaghan, Kristin G., Yang, Jun, Juusola, Jane
Published in American journal of human genetics (04.04.2024)
Published in American journal of human genetics (04.04.2024)
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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
Paul, Maimuna S., Michener, Sydney L., Pan, Hongling, Chan, Hiuling, Pfliger, Jessica M., Rosenfeld, Jill A., Lerma, Vanesa C., Tran, Alyssa, Longley, Megan A., Lewis, Richard A., Weisz-Hubshman, Monika, Bekheirnia, Mir Reza, Bekheirnia, Nasim, Massingham, Lauren, Zech, Michael, Wagner, Matias, Engels, Hartmut, Cremer, Kirsten, Mangold, Elisabeth, Peters, Sophia, Trautmann, Jessica, Perne, Claudia, Mester, Jessica L., Guillen Sacoto, Maria J., Person, Richard, McDonnell, Pamela P., Cohen, Stacey R., Lusk, Laina, Cohen, Ana S.A., Le Pichon, Jean-Baptiste, Pastinen, Tomi, Zhou, Dihong, Engleman, Kendra, Racine, Caroline, Faivre, Laurence, Moutton, Sébastien, Denommé-Pichon, Anne-Sophie, Koh, Hyun Yong, Poduri, Annapurna, Bolton, Jeffrey, Knopp, Cordula, Julia Suh, Dong Sun, Maier, Andrea, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Schaefer, Gerald Bradley, Ramakumaran, Vijayalakshmi, Vasudevan, Pradeep, Banos-Pinero, Benito, Pagnamenta, Alistair T., Prasad, Chitra, Osmond, Matthew, Schuhmann, Sarah, Vasileiou, Georgia, Russ-Hall, Sophie, Scheffer, Ingrid E., Carvill, Gemma L., Mefford, Heather, Bacino, Carlos A., Lee, Brendan H., Chao (趙孝端), Hsiao-Tuan
Published in American journal of human genetics (06.06.2024)
Published in American journal of human genetics (06.06.2024)
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Journal Article
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
Mullegama, Sureni V., Kiernan, Kaitlyn A., Torti, Erin, Pavlovsky, Ethan, Tilton, Nicholas, Sekula, Austin, Gao, Hua, Alaimo, Joseph T., Engleman, Kendra, Rush, Eric T., Blocker, Karli, Dipple, Katrina M., Fettig, Veronica M., Hare, Heather, Glass, Ian, Grange, Dorothy K., Griffin, Michael, Phornphutkul, Chanika, Massingham, Lauren, Mehta, Lakshmi, Miller, Danny E., Thies, Jenny, Merritt, J Lawrence, Muller, Eric, Osmond, Matthew, Sawyer, Sarah L., Slaugh, Rachel, Hickey, Rachel E., Wolf, Barry, Choudhary, Sanjeev, Simonović, Miljan, Zhang, Yueqing, Palculict, Timothy Blake, Telegrafi, Aida, Carere, Deanna Alexis, Wentzensen, Ingrid M., Morrow, Michelle M., Monaghan, Kristin G., Juusola, Jane, Yang, Jun
Published in American journal of human genetics (06.06.2024)
Published in American journal of human genetics (06.06.2024)
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Journal Article
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
Paul, Maimuna S., Michener, Sydney L., Pan, Hongling, Chan, Hiuling, Pfliger, Jessica M., Rosenfeld, Jill A., Lerma, Vanesa C., Tran, Alyssa, Longley, Megan A., Lewis, Richard A., Weisz-Hubshman, Monika, Bekheirnia, Mir Reza, Bekheirnia, Nasim, Massingham, Lauren, Zech, Michael, Wagner, Matias, Engels, Hartmut, Cremer, Kirsten, Mangold, Elisabeth, Peters, Sophia, Trautmann, Jessica, Perne, Claudia, Mester, Jessica L., Guillen Sacoto, Maria J., Person, Richard, McDonnell, Pamela P., Cohen, Stacey R., Lusk, Laina, Cohen, Ana S.A., Le Pichon, Jean-Baptiste, Pastinen, Tomi, Zhou, Dihong, Engleman, Kendra, Racine, Caroline, Faivre, Laurence, Moutton, Sébastien, Denommé-Pichon, Anne-Sophie, Koh, Hyun Yong, Poduri, Annapurna, Bolton, Jeffrey, Knopp, Cordula, Julia Suh, Dong Sun, Maier, Andrea, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Schaefer, Gerald Bradley, Ramakumaran, Vijayalakshmi, Vasudevan, Pradeep, Banos-Pinero, Benito, Pagnamenta, Alistair T., Prasad, Chitra, Osmond, Matthew, Schuhmann, Sarah, Vasileiou, Georgia, Russ-Hall, Sophie, Scheffer, Ingrid E., Carvill, Gemma L., Mefford, Heather, Bacino, Carlos A., Lee, Brendan H., Chao, Hsiao-Tuan
Published in American journal of human genetics (04.04.2024)
Published in American journal of human genetics (04.04.2024)
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Journal Article
Phenotypic expansion and variable expressivity in individuals with JARID2‐related intellectual disability: A case series
Cadieux‐Dion, Maxime, Farrow, Emily, Thiffault, Isabelle, Cohen, Ana S. A., Welsh, Holly, Bartik, Lauren, Schwager, Caitlin, Engleman, Kendra, Zhou, Dihong, Zhang, Lei, Repnikova, Elena, Amudhavalli, Shivarajan M., Saunders, Carol J.
Published in Clinical genetics (01.08.2022)
Published in Clinical genetics (01.08.2022)
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Journal Article
Phenotypic characterization of JARID2-related intellectual disability: A case series
Cadieux-Dion, Maxime, Farrow, Emily, Welsh, Holly, Bartik, Lauren, Schwager, Caitlin, Gadea, Randi, Engleman, Kendra, Cohen, Ana, Repnikova, Elena, Zhang, Lei, Herriges, John, Gannon, Jennifer, Zhou, Dihong, Amudhavalli, Shivarajan, Thiffault, Isabelle, Saunders, Carol
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
eP438 - Phenotypic characterization of JARID2-related intellectual disability: A case series
Cadieux-Dion, Maxime, Farrow, Emily, Welsh, Holly, Bartik, Lauren, Schwager, Caitlin, Gadea, Randi, Engleman, Kendra, Cohen, Ana, Repnikova, Elena, Zhang, Lei, Herriges, John, Gannon, Jennifer, Zhou, Dihong, Amudhavalli, Shivarajan, Thiffault, Isabelle, Saunders, Carol
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Syndromic neurodevelopmental disorder associated with de novo variants in DDX23
Burns, William, Bird, Lynne M., Heron, Delphine, Keren, Boris, Ramachandra, Divya, Thiffault, Isabelle, Del Viso, Florencia, Amudhavalli, Shivarajan, Engleman, Kendra, Parenti, Ilaria, Kaiser, Frank J., Wierzba, Jolanta, Riedhammer, Korbinian M., Liptay, Susanne, Zadeh, Neda, Porrmann, Joseph, Fischer, Andrea, Gößwein, Sophie, McLaughlin, Heather M., Telegrafi, Aida, Langley, Katherine G., Steet, Richard, Louie, Raymond J., Lyons, Michael J.
Published in American journal of medical genetics. Part A (01.10.2021)
Published in American journal of medical genetics. Part A (01.10.2021)
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