Search Results - "Masser‐Frye, Diane"

Randomized Clinical Trial of First‐Line Genome Sequencing in Pediatric White Matter Disorders by 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, Haren, Keith, Waters, Erica, Wilson, Jenny L., Zhorne, Leah, Schiffmann, Raphael, Knaap, Marjo S., Pizzino, Amy, Dubbs, Holly, Shults, Justine, Simons, Cas, Taft, Ryan J.

“…Objective Genome sequencing (GS) is promising for unsolved leukodystrophies, but its efficacy has not been prospectively studied. Methods A prospective…”
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Parent and patient knowledge and attitudes about cancer predisposition syndrome genetic testing in pediatric oncology: Understanding sociodemographic and parent–child differences by Rapoport, Chelsea S., Masser‐Frye, Diane, Mehta, Sapna, Choi, Alyssa K., Olfus, Sydney, Korhummel, Megan, Hoyo, Veronica, Dimmock, David, Malcarne, Vanessa L., Kuo, Dennis J.

“…Background Cancer predisposition syndromes (CPS) impact about 10% of patients with pediatric cancer. Genetic testing (CPS‐GT) has multiple benefits, but few…”
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Practice Guidelines for Communicating a Prenatal or Postnatal Diagnosis of Down Syndrome: Recommendations of the National Society of Genetic Counselors by Sheets, Kathryn B., Crissman, Blythe G., Feist, Cori D., Sell, Susan L., Johnson, Lisa R., Donahue, Kelly C., Masser-Frye, Diane, Brookshire, Gail S., Carre, Amanda M., LaGrave, Danielle, Brasington, Campbell K.

“…Down syndrome is one of the most common conditions encountered in the genetics clinic. Due to improvements in healthcare, educational opportunities, and…”
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Genotype-phenotype analysis of 4q deletion syndrome: Proposal of a critical region by Strehle, Eugen-Matthias, Yu, Linbo, Rosenfeld, Jill A., Donkervoort, Sandra, Zhou, Yulin, Chen, Tian-Jian, Martinez, Jose E., Fan, Yao-Shan, Barbouth, Deborah, Zhu, Hongbo, Vaglio, Alicia, Smith, Rosemarie, Stevens, Cathy A., Curry, Cynthia J., Ladda, Roger L., Fan, Zheng (Jane), Fox, Joyce E., Martin, Judith A., Abdel-Hamid, Hoda Z., McCracken, Elizabeth A., McGillivray, Barbara C., Masser-Frye, Diane, Huang, Taosheng

“…Chromosome 4q deletion syndrome (4q‐ syndrome) is a rare condition, with an estimated incidence of 1 in 100,000. Although variable, the clinical spectrum…”
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The odds and implications of coinheritance of hemophilia A and B by Karch, Corinne, Masser‐Frye, Diane, Limjoco, Jacqueline, Ryan, Sarah E., Fletcher, Shelley N., Corbett, Kevin D., Johnsen, Jill M., Thornburg, Courtney D.

“…We report 2 patients with coinheritance of the X‐linked bleeding disorders hemophilia A and hemophilia B. We describe the family pedigrees, clinical features,…”
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Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy by 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.

“…Inherited GPI deficiencies (IGDs) are a subset of congenital disorders of glycosylation that are increasingly recognized as a result of advances in whole-exome…”
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X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3 by 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

“…The X-linked GRIA3 gene encodes the GLUA3 subunit of AMPA-type glutamate receptors. Pathogenic variants in this gene were previously reported in…”
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Cornelia de Lange syndrome in diverse populations by 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, Hisama, 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.

“…Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes—NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The…”
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O38: The impact of whole genome sequencing in a diverse global population of genetic disease patients by Taft, Ryan, Thorpe, Erin, Belmont, John, Williams, Taylor, Shaw, Chad, Button, Jason, Ortega, Julia, Robinson, Keisha, Jones, Marilyn, Masser-Frye, Diane, Basel, Donald, Brown, Chester, Vaux, Keith, Lumaka, Aime, Sirchia, Fabio, Roque, Milagros Dueñas, Cornejo-Olivas, Mario, Bazalar-Montoya, Jeny, Urraca, Nora, Salguero, Alejandra, Wiafe, Samuel, Foster-Bonds, Romina, Royer, Erin, Gallas, Michelle, Magoulas, Pilar, Vanderver, Adeline, Shinawi, Marwan, Taylor, Alan, Fishler, Kristen, Henry, Duncan, Salyakina, Daria, Gibson, Kate, Lah, Melissa, Malhotra, Alka, Avecilla, James, Warren, Andrew, Perry, Denise, Arseneault, Max

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Mitochondrial dysfunction in autistic patients with 15q inverted duplication by Filipek, Pauline A., Juranek, Jenifer, Smith, Moyra, Mays, Lee Z., Ramos, Erica R., Bocian, Maureen, Masser-Frye, Diane, Laulhere, Tracy M., Modahl, Charlotte, Spence, M. Anne, Gargus, J. Jay

“…Two autistic children with a chromosome 15q11‐q13 inverted duplication are presented. Both had uneventful perinatal courses, normal electroencephalogram and…”
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Acute Megakaryoblastic Leukemia Leading to the Diagnosis of Germline Trisomy 21 Mosaicism by Savla, Dipal, Del Campo, Miguel, Masser-Frye, Diane, Kuo, Dennis John

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Multiple molecular diagnoses in individual patients identified through whole genome sequencing by Malhotra, Alka, Thorpe, Erin, Ortega, Julia, Masser-Frye, Diane, Jones, Marilyn, Royer, Erin, Ohden, Lisa, Davis-Keppen, Laura, Belmont, John, Perry, Denise, Taft, Ryan

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eP238 - Multiple molecular diagnoses in individual patients identified through whole genome sequencing by Malhotra, Alka, Thorpe, Erin, Ortega, Julia, Masser-Frye, Diane, Jones, Marilyn, Royer, Erin, Ohden, Lisa, Davis-Keppen, Laura, Belmont, John, Perry, Denise, Taft, Ryan

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

“…In two independent ongoing next-generation sequencing projects for individuals with holoprosencephaly and individuals with disorders of sex development, and…”
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Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements by 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.

“…Interpretation of variants of uncertain significance, especially chromosomal rearrangements in non-coding regions of the human genome, remains one of the…”
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Leiomyosarcoma in Birt-Hogg-Dubé Syndrome by Bird, Lynne M., Kuo, Dennis J., Masser-Frye, Diane, Mo, Jun Q., Elster, Jennifer D.

“…Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant genodermatosis characterized by benign cutaneous tumors (fibrofolliculomas, trichodiscomas, and…”
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Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling by Holtz, Alexander M., VanCoillie, Rachel, Vansickle, Elizabeth A., Carere, Deanna Alexis, Withrow, Kara, Torti, Erin, Juusola, Jane, Millan, Francisca, Person, Richard, Guillen Sacoto, Maria J., Si, Yue, Wentzensen, Ingrid M., Pugh, Jada, Vasileiou, Georgia, Rieger, Melissa, Reis, André, Argilli, Emanuela, Sherr, Elliott H., Aldinger, Kimberly A., Dobyns, William B., Brunet, Theresa, Hoefele, Julia, Wagner, Matias, Haber, Benjamin, Kotzaeridou, Urania, Keren, Boris, Heron, Delphine, Mignot, Cyril, Heide, Solveig, Courtin, Thomas, Buratti, Julien, Murugasen, Serini, Donald, Kirsten A., O’Heir, Emily, Moody, Shade, Kim, Katherine H., Burton, Barbara K., Yoon, Grace, Campo, Miguel del, Masser-Frye, Diane, Kozenko, Mariya, Parkinson, Christina, Sell, Susan L., Gordon, Patricia L., Prokop, Jeremy W., Karaa, Amel, Bupp, Caleb, Raby, Benjamin A.

“…Nonmuscle myosin II complexes are master regulators of actin dynamics that play essential roles during embryogenesis with vertebrates possessing 3 nonmuscle…”
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Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico by 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.

“…Patients with rare, undiagnosed, or genetic disease (RUGD) often undergo years of serial testing, commonly referred to as the “diagnostic odyssey”. Patients in…”
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54. Utilizing clinical whole genome sequencing to identify balanced translocation carriers in the parents of children with derivative chromosomes by Hagelstrom, R. Tanner, Gross, Andrew, Jones, Marilyn, Masser-Frye, Diane, Scocchia, Alicia, Bluske, Kristen, Malhotra, Alka, Perry, Denise L., Bentley, David R., Taft, Ryan J.

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The odds and implications of coinheritance of hemophilia A and B by Karch, Corinne, Masser-Frye, Diane, Limjoco, Jacqueline, Ryan, Sarah E, Fletcher, Shelley N, Corbett, Kevin D, Johnsen, Jill M, Thornburg, Courtney D

“…We report 2 patients with coinheritance of the X-linked bleeding disorders hemophilia A and hemophilia B. We describe the family pedigrees, clinical features,…”
Get full text