Search Results - Haynes, Devon
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1
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies by Gonçalves, Sara, Patat, Julie, Guida, Maria Clara, Lachaussée, Noelle, Arrondel, Christelle, Helmstädter, Martin, Boyer, Olivia, Gribouval, Olivier, Gubler, Marie-Claire, Mollet, Geraldine, Rio, Marlène, Charbit, Marina, Bole-Feysot, Christine, Nitschke, Patrick, Huber, Tobias B., Wheeler, Patricia G., Haynes, Devon, Juusola, Jane, Billette de Villemeur, Thierry, Nava, Caroline, Afenjar, Alexandra, Keren, Boris, Bodmer, Rolf, Antignac, Corinne, Simons, Matias
Published 2018Text -
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Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies by Gonçalves, Sara, Patat, Julie, Guida, Maria Clara, Lachaussée, Noelle, Arrondel, Christelle, Helmstädter, Martin, Boyer, Olivia, Gribouval, Olivier, Gubler, Marie-Claire, Mollet, Geraldine, Rio, Marlène, Charbit, Marina, Bole-Feysot, Christine, Nitschke, Patrick, Huber, Tobias B., Wheeler, Patricia G., Haynes, Devon, Juusola, Jane, de Villemeur, Thierry Billette, Nava, Caroline, Afenjar, Alexandra, Keren, Boris, Bodmer, Rolf, Antignac, Corinne, Simons, Matias
Published 2018Text -
3
Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation by Hansen, Adam W., Arora, Payal, Khayat, Michael M., Smith, Leah J., Lewis, Andrea M., Rossetti, Linda Z., Jayaseelan, Joy, Cristian, Ingrid, Haynes, Devon, DiTroia, Stephanie, Meeks, Naomi, Delgado, Mauricio R., Rosenfeld, Jill A., Pais, Lynn, White, Susan M., Meng, Qingchang, Pehlivan, Davut, Liu, Pengfei, Gingras, Marie-Claude, Wangler, Michael F., Muzny, Donna M., Lupski, James R., Kaplan, Craig D., Gibbs, Richard A.
Published 2020Text -
4
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism by Guillen Sacoto, Maria J., Tchasovnikarova, Iva A., Torti, Erin, Forster, Cara, Andrew, E. Hallie, Anselm, Irina, Baranano, Kristin W., Briere, Lauren C., Cohen, Julie S., Craigen, William J., Cytrynbaum, Cheryl, Ekhilevitch, Nina, Elrick, Matthew J., Fatemi, Ali, Fraser, Jamie L., Gallagher, Renata C., Guerin, Andrea, Haynes, Devon, High, Frances A., Inglese, Cara N., Kiss, Courtney, Koenig, Mary Kay, Krier, Joel, Lindstrom, Kristin, Marble, Michael, Meddaugh, Hannah, Moran, Ellen S., Morel, Chantal F., Mu, Weiyi, Muller, Eric A., Nance, Jessica, Natowicz, Marvin R., Numis, Adam L., Ostrem, Bridget, Pappas, John, Stafstrom, Carl E., Streff, Haley, Sweetser, David A., Szybowska, Marta, Walker, Melissa A., Wang, Wei, Weiss, Karin, Weksberg, Rosanna, Wheeler, Patricia G., Yoon, Grace, Kingston, Robert E., Juusola, Jane
Published 2020Text -
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Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies by Glinton, Kevin E., Hurst, Anna C. E., Bowling, Kevin M., Cristian, Ingrid, Haynes, Devon, Adstamongkonkul, Dusit, Schnappauf, Oskar, Beck, David B., Brewer, Carole, Parikh, Aditi Shah, Shinde, Deepali N., Donaldson, Alan, Brautbar, Ariel, Koene, Saskia, van Haeringen, Arie, Piton, Amélie, Capri, Yline, Furlan, Margherita, Gardella, Elena, Møller, Rikke Steensbjerre, van de Beek, Irma, Zuurbier, Linda, Lakeman, Phillis, Bayat, Allan, Martinez, Julian, Signer, Rebecca, Torring, Pernille M., Engelund, Morten Buch, Gripp, Karen W., Amlie‐Wolf, Louise, Henderson, Lindsay B., Midro, Alina T., Tarasów, Eugeniusz, Stasiewicz‐Jarocka, Beata, Moskal‐Jasinska, Diana, Vos, Paul, Boschann, Felix, Stoltenburg, Corinna, Puk, Oliver, Mero, Inger‐Lise, Lossius, Kristine, Mignot, Cyril, Keren, Boris, Acosta Guio, Johanna C., Briceño, Ignacio, Gomez, Alberto, Yang, Yaping, Stankiewicz, Pawel
Published 2021Text