The odds and implications of coinheritance of hemophilia A and B

par Karch, Corinne, Masser‐Frye, Diane, Limjoco, Jacqueline, Ryan, Sarah E., Fletcher, Shelley N., Corbett, Kevin D., Johnsen, Jill M., Thornburg, Courtney D.
Publié dans Res Pract Thromb Haemost (2020)

X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3

par Sun, Jia-Hui, Chen, Jiang, Ayala Valenzuela, Fernando Eduardo, Brown, Carolyn, Masser-Frye, Diane, Jones, Marilyn, Romero, Leslie Patron, Rinaldi, Berardo, Li, Wenhui Laura, Li, Qing-Qing, Wu, Dan, Gerard, Benedicte, Thorpe, Erin, Bayat, Allan, Shi, Yun Stone
Publié dans PLoS Genet (2021)

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

par Scocchia, Alicia, Wigby, Kristen M., Masser-Frye, Diane, Del Campo, Miguel, Galarreta, Carolina I., Thorpe, Erin, McEachern, Julia, Robinson, Keisha, Gross, Andrew, Ajay, Subramanian S., Rajan, Vani, Perry, Denise L., Belmont, John W., Bentley, David R., Jones, Marilyn C., Taft, Ryan J.
Publié dans NPJ Genom Med (2019)

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy

par Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Wigby, Kristen M., Baratang, Nissan V., Rousseau, Justine, St-Denis, Anik, Rosenfeld, Jill A., Laniewski, Stephanie C., Jones, Julie, Iglesias, Alejandro D., Jones, Marilyn C., Masser-Frye, Diane, Scheuerle, Angela E., Perry, Denise L., Taft, Ryan J., Le Deist, Françoise, Thompson, Miles, Kinoshita, Taroh, Campeau, Philippe M.
Publié dans Am J Hum Genet (2018)

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements

par Zepeda-Mendoza, Cinthya J., Ibn-Salem, Jonas, Kammin, Tammy, Harris, David J., Rita, Debra, Gripp, Karen W., MacKenzie, Jennifer J., Gropman, Andrea, Graham, Brett, Shaheen, Ranad, Alkuraya, Fowzan S., Brasington, Campbell K., Spence, Edward J., Masser-Frye, Diane, Bird, Lynne M., Spiegel, Erica, Sparkes, Rebecca L., Ordulu, Zehra, Talkowski, Michael E., Andrade-Navarro, Miguel A., Robinson, Peter N., Morton, Cynthia C.
Publié dans Am J Hum Genet (2017)

Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders

par Vanderver, Adeline, Bernard, Geneviève, Helman, Guy, Sherbini, Omar, Boeck, Ryan, Cohn, Jeffrey, Collins, Abigail, Demarest, Scott, Dobbins, Katherine, Emrick, Lisa, Fraser, Jamie L., Masser-Frye, Diane, Hayward, Jean, Karmarkar, Swati, Keller, Stephanie, Mirrop, Samuel, Mitchell, Wendy, Pathak, Sheel, Sherr, Elliott, van Haren, Keith, Waters, Erica, Wilson, Jenny L., Zhorne, Leah, Schiffmann, Raphael, van der Knaap, Marjo S., Pizzino, Amy, Dubbs, Holly, Shults, Justine, Simons, Cas, Taft, Ryan J.
Publié dans Ann Neurol (2020)

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations

par Hughes, Joel J., Alkhunaizi, Ebba, Kruszka, Paul, Pyle, Louise C., Grange, Dorothy K., Berger, Seth I., Payne, Katelyn K., Masser-Frye, Diane, Hu, Tommy, Christie, Michelle R., Clegg, Nancy J., Everson, Joshua L., Martinez, Ariel F., Walsh, Laurence E., Bedoukian, Emma, Jones, Marilyn C., Harris, Catharine Jean, Riedhammer, Korbinian M., Choukair, Daniela, Fechner, Patricia Y., Rutter, Meilan M., Hufnagel, Sophia B., Roifman, Maian, Kletter, Gad B., Delot, Emmanuele, Vilain, Eric, Lipinski, Robert J., Vezina, Chad M., Muenke, Maximilian, Chitayat, David
Publié dans Am J Hum Genet (2020)

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

par Koolen, David A, Pfundt, Rolph, Linda, Katrin, Beunders, Gea, Veenstra-Knol, Hermine E, Conta, Jessie H, Fortuna, Ana Maria, Gillessen-Kaesbach, Gabriele, Dugan, Sarah, Halbach, Sara, Abdul-Rahman, Omar A, Winesett, Heather M, Chung, Wendy K, Dalton, Marguerite, Dimova, Petia S, Mattina, Teresa, Prescott, Katrina, Zhang, Hui Z, Saal, Howard M, Hehir-Kwa, Jayne Y, Willemsen, Marjolein H, Ockeloen, Charlotte W, Jongmans, Marjolijn C, Van der Aa, Nathalie, Failla, Pinella, Barone, Concetta, Avola, Emanuela, Brooks, Alice S, Kant, Sarina G, Gerkes, Erica H, Firth, Helen V, Õunap, Katrin, Bird, Lynne M, Masser-Frye, Diane, Friedman, Jennifer R, Sokunbi, Modupe A, Dixit, Abhijit, Splitt, Miranda, Kukolich, Mary K, McGaughran, Julie, Coe, Bradley P, Flórez, Jesús, Nadif Kasri, Nael, Brunner, Han G, Thompson, Elizabeth M, Gecz, Jozef, Romano, Corrado, Eichler, Evan E, de Vries, Bert BA
Publié dans Eur J Hum Genet (2016)

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

par Fountain, Michael D., Oleson, David S., Rech, Megan E., Segebrecht, Lara, Hunter, Jill V., McCarthy, John M., Lupo, Philip J., Holtgrewe, Manuel, Moran, Rocio, Rosenfeld, Jill A., Isidor, Bertrand, Le Caignec, Cédric, Saenz, Margarita S., Pedersen, Robert C., Morgan, Thomas M., Pfotenhauer, Jean P., Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Krantz, Ian D., Raible, Sarah E., Smith, Wendy, Cristian, Ingrid, Torti, Erin, Juusola, Jane, Millan, Francisca, Wentzensen, Ingrid M., Person, Richard E., Küry, Sébastien, Bézieau, Stéphane, Uguen, Kévin, Férec, Claude, Munnich, Arnold, van Haelst, Mieke, Lichtenbelt, Klaske D., van Gassen, Koen, Hagelstrom, Tanner, Chawla, Aditi, Perry, Denise L., Taft, Ryan J., Jones, Marilyn, Masser-Frye, Diane, Dyment, David, Venkateswaran, Sunita, Li, Chumei, Escobar, Luis F., Horn, Denise, Spillmann, Rebecca C., Peña, Loren, Wierzba, Jolanta, Strom, Tim M., Parenti, Ilaria, Kaiser, Frank J., Ehmke, Nadja, Schaaf, Christian P.
Publié dans Genet Med (2019)

Cornelia de Lange Syndrome in Diverse Populations

par Dowsett, Leah, Porras, Antonio R., Kruszka, Paul, Davis, Brandon, Hu, Tommy, Honey, Engela, Badoe, Eben, Thong, Meow-Keong, Leon, Eyby, Girisha, Katta M., Shukla, Anju, Nayak, Shalini S., Shotelersuk, Vorasuk, Megarbane, Andre, Phadke, Shubha, Sirisena, Nirmala D., Dissanayake, Vajira H.W., Ferreira, Carlos R., Kisling, Monisha S., Tanpaiboon, Pranoot, Uwineza, Annette, Mutesa, Leon, Tekendo-Ngongang, Cedrik, Wonkam, Ambroise, Fieggen, Karen, Batista, Leticia Cassimiro, Moretti-Ferreira, Danilo, Stevenson, Roger E., Prijoles, Eloise J., Everman, David, Clarkson, Kate, Worthington, Jessica, Kimonis, Virginia, Hasama, Fuki, Crowe, Carol, Wong, Paul, Johnson, Kisha, Clark, Robin D., Bird, Lynne, Masser-Frye, Diane, McDonald, Marie, Willems, Patrick, Roeder, Elizabeth, Saitta, Sulgana, Anyane-Yeoba, Kwame, Demmer, Laurie, Hamajima, Naoki, Stark, Zornitza, Gillies, Greta, Hudgins, Louanne, Dave, Usha, Shalev, Stavit, Siu, Victoria, Ades, Ann, Dubbs, Holly, Raible, Sarah, Kaur, Maninder, Salzano, Emanuela, Jackson, Laird, Deardorff, Matthew, Kline, Antonie, Summar, Marshall, Muenke, Maximilian, Linguraru, Marius George, Krantz, Ian D.
Publié dans Am J Med Genet A (2019)

The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies

par Redin, Claire, Brand, Harrison, Collins, Ryan L., Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C., Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M., Abbott, Mary-Alice, Abdul-Rahman, Omar A., Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L., Alkuraya, Fowzan S., An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F., Bartell, Tina, Bernstein, Jonathan A., Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M.H.F., Brilstra, Eva H., Brown, Chester W., Brüggenwirth, Hennie T., Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B., Cushing, Tom, David, Dezso, Deardorff, Matthew A., Dheedene, Annelies, D’Hooghe, Marc, de Vries, Bert B.A., Earl, Dawn L., Ferguson, Heather L., Fisher, Heather, FitzPatrick, David R., Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T., Gliem, Troy, Grady, Margo, Graham, Brett H., Griffis, Cristin, Gripp, Karen W., Gropman, Andrea L., Hanson-Kahn, Andrea, Harris, David J., Hayden, Mark A., Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D., Hopkin, Robert J., Hubshman, Monika W., Innes, A. Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C., Janssens, Sandra, Jewett, Tamison, Johnson, John P., Jongmans, Marjolijn C., Kahler, Stephen G., Koolen, David A., Korzelius, Jerome, Kroisel, Peter M., Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V., Li, Haibo, Li, Hong, Liao, Eric C., Lim, Cynthia, Lose, Edward J., Lucente, Diane, Macera, Michael J., Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L., Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W., Zepeda Mendoza, Cinthya J., Menten, Björn, Middelkamp, Sjors, Mikami, Liya R., Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E., Moya, Graciela, Nieuwint, Aggie W., Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P., Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Piña Aguilar, Raul E., Poddighe, Pino J., Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L.P., Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R., Tagoe, Julia, Thakuria, Joseph V., van Bon, Bregje W., van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M., van Roosmalen, Markus J., Vergult, Sarah, Volker-Touw, Catharina M.L., Warburton, Dorothy P., Waterman, Matthew J., Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A., Zori, Roberto T., Levy, Brynn, Brunner, Han G., de Leeuw, Nicole, Kloosterman, Wigard P., Thorland, Erik C., Morton, Cynthia C., Gusella, James F., Talkowski, Michael E.
Publié dans Nat Genet (2016)