Search Results - "McKnight, Dianalee"

Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders by Lindy, Amanda S., Stosser, Mary Beth, Butler, Elizabeth, Downtain‐Pickersgill, Courtney, Shanmugham, Anita, Retterer, Kyle, Brandt, Tracy, Richard, Gabriele, McKnight, Dianalee A.

“…Summary Objective We evaluated >8500 consecutive, unselected patients with epilepsy and neurodevelopmental disorders who underwent multigene panel testing to…”
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High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders by Stosser, Mary Beth, Lindy, Amanda S, Butler, Elizabeth, Retterer, Kyle, Piccirillo-Stosser, Caitlin M, Richard, Gabriele, McKnight, Dianalee A

“…Purpose Mosaicism probably represents an underreported cause of genetic disorders due to detection challenges during routine molecular diagnostics. The purpose…”
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Clinical application of whole-exome sequencing across clinical indications by Retterer, Kyle, Juusola, Jane, Cho, Megan T., Vitazka, Patrik, Millan, Francisca, Gibellini, Federica, Vertino-Bell, Annette, Smaoui, Nizar, Neidich, Julie, Monaghan, Kristin G., McKnight, Dianalee, Bai, Renkui, Suchy, Sharon, Friedman, Bethany, Tahiliani, Jackie, Pineda-Alvarez, Daniel, Richard, Gabriele, Brandt, Tracy, Haverfield, Eden, Chung, Wendy K., Bale, Sherri

“…We report the diagnostic yield of whole-exome sequencing (WES) in 3,040 consecutive cases at a single clinical laboratory. WES was performed for many different…”
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A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants by López-Rivera, Javier A, Pérez-Palma, Eduardo, Symonds, Joseph, Lindy, Amanda S, McKnight, Dianalee A, Leu, Costin, Zuberi, Sameer, Brunklaus, Andreas, Møller, Rikke S, Lal, Dennis

“…A large fraction of rare and severe neurodevelopmental disorders are caused by sporadic de novo variants. Epidemiological disease estimates are not available…”
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Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets by Evans, Perry, Wu, Chao, Lindy, Amanda, McKnight, Dianalee A, Lebo, Matthew, Sarmady, Mahdi, Abou Tayoun, Ahmad N

“…Recent advances in DNA sequencing have expanded our understanding of the molecular basis of genetic disorders and increased the utilization of clinical genomic…”
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Molecular evolution of dentin phosphoprotein among toothed and toothless animals by McKnight, Dianalee A, Fisher, Larry W

“…Dentin sialophosphoprotein (DSPP) is the largest member of the SIBLING family and is the most abundant noncollagenous protein in dentin. DSPP is also expressed…”
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Spectrum of KV2.1 Dysfunction in KCNB1‐Associated Neurodevelopmental Disorders by Kang, Seok Kyu, Vanoye, Carlos G., Misra, Sunita N., Echevarria, Dennis M., Calhoun, Jeffrey D., O'Connor, John B., Fabre, Katarina L., McKnight, Dianalee, Demmer, Laurie, Goldenberg, Paula, Grote, Lauren E., Thiffault, Isabelle, Saunders, Carol, Strauss, Kevin A., Torkamani, Ali, der Smagt, Jasper, Gassen, Koen, Carson, Robert P., Diaz, Jullianne, Leon, Eyby, Jacher, Joseph E., Hannibal, Mark C., Litwin, Jessica, Friedman, Neil R., Schreiber, Allison, Lynch, Bryan, Poduri, Annapurna, Marsh, Eric D., Goldberg, Ethan M., Millichap, John J., George, Alfred L., Kearney, Jennifer A.

“…Objective Pathogenic variants in KCNB1, encoding the voltage‐gated potassium channel KV2.1, are associated with developmental and epileptic encephalopathy…”
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Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods by McKnight, Dianalee, Bean, Lora, Karbassi, Izabela, Beattie, Katelynn, Bienvenu, Thierry, Bonin, Hope, Fang, Ping, Chrisodoulou, John, Friez, Michael, Helgeson, Maria, Krishnaraj, Rahul, Meng, Linyan, Mighion, Lindsey, Neul, Jeffrey, Percy, Alan, Ramsden, Simon, Zoghbi, Huda, Das, Soma

“…The genes MECP2, CDKL5, FOXG1, UBE3A, SLC9A6, and TCF4 present unique challenges for current ACMG/AMP variant interpretation guidelines. To address those…”
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Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease by Leal‐Pardinas, Fernanda, Truty, Rebecca, McKnight, Dianalee A., Johnson, Britt, Morales, Ana, Bristow, Sara L., Yar Pang, Tiffany, Cohen‐Pfeffer, Jessica, Izzo, Emanuela, Sankar, Raman, Koh, Sookyong, Wirrell, Elaine C., Millichap, John J., Aradhya, Swaroop

“…This study assessed the effectiveness of genetic testing in shortening the time to diagnosis of late infantile neuronal ceroid lipofuscinosis type 2 (CLN2)…”
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P537: Reliability of clinician entries for patient self-identified race, ethnicity, and ancestry in clinical genetic testing by Popejoy, Alice, Morales, Ana, McKnight, Dianalee

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Joubert Syndrome in French Canadians and Identification of Mutations in CEP104 by Srour, Myriam, Hamdan, Fadi F., McKnight, Dianalee, Davis, Erica, Mandel, Hanna, Schwartzentruber, Jeremy, Martin, Brissa, Patry, Lysanne, Nassif, Christina, Dionne-Laporte, Alexandre, Ospina, Luis H., Lemyre, Emmanuelle, Massicotte, Christine, Laframboise, Rachel, Maranda, Bruno, Labuda, Damian, Décarie, Jean-Claude, Rypens, Françoise, Goldsher, Dorith, Fallet-Bianco, Catherine, Soucy, Jean-François, Laberge, Anne-Marie, Maftei, Catalina, Boycott, Kym, Brais, Bernard, Boucher, Renée-Myriam, Rouleau, Guy A., Katsanis, Nicholas, Majewski, Jacek, Elpeleg, Orly, Kukolich, Mary K., Shalev, Stavit, Michaud, Jacques L.

“…Joubert syndrome (JBTS) is a primarily autosomal-recessive disorder characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor…”
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The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations by Chen, Chun-An, Bosch, Daniëlle G.M., Cho, Megan T., Rosenfeld, Jill A., Shinawi, Marwan, Lewis, Richard Alan, Mann, John, Jayakar, Parul, Payne, Katelyn, Walsh, Laurence, Moss, Timothy, Schreiber, Allison, Schoonveld, Cheri, Monaghan, Kristin G., Elmslie, Frances, Douglas, Ganka, Boonstra, F. Nienke, Millan, Francisca, Cremers, Frans P.M., McKnight, Dianalee, Richard, Gabriele, Juusola, Jane, Kendall, Fran, Ramsey, Keri, Anyane-Yeboa, Kwame, Malkin, Elfrida, Chung, Wendy K., Niyazov, Dmitriy, Pascual, Juan M., Walkiewicz, Magdalena, Veluchamy, Vivekanand, Li, Chumei, Hisama, Fuki M., de Vries, Bert B.A., Schaaf, Christian

“…Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an autosomal-dominant disorder characterized by optic atrophy and intellectual disability caused by…”
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Rough endoplasmic reticulum trafficking errors by different classes of mutant dentin sialophosphoprotein (DSPP) cause dominant negative effects in both dentinogenesis imperfecta and dentin dysplasia by entrapping normal DSPP by von Marschall, Zofia, Mok, Seeun, Phillips, Matthew D, McKnight, Dianalee A, Fisher, Larry W

“…Families with nonsyndromic dentinogenesis imperfecta (DGI) and the milder, dentin dysplasia (DD), have mutations in one allele of the dentin…”
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High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity by Vanoye, Carlos G, Desai, Reshma R, Ji, Zhigang, Adusumilli, Sneha, Jairam, Nirvani, Ghabra, Nora, Joshi, Nishtha, Fitch, Eryn, Helbig, Katherine L, McKnight, Dianalee, Lindy, Amanda S, Zou, Fanggeng, Helbig, Ingo, Cooper, Edward C, George, Jr, Alfred L

“…Hundreds of genetic variants in KCNQ2 encoding the voltage-gated potassium channel KV7.2 are associated with early onset epilepsy and/or developmental…”
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TM14 Is a New Member of the Fibulin Family (Fibulin-7) That Interacts with Extracellular Matrix Molecules and Is Active for Cell Binding by de Vega, Susana, Iwamoto, Tsutomu, Nakamura, Takashi, Hozumi, Kentaro, McKnight, Dianalee A., Fisher, Larry W., Fukumoto, Satoshi, Yamada, Yoshihiko

“…We identified a new extracellular protein, TM14, by differential hybridization using mouse tooth germ cDNA microarrays. TM14 cDNA encodes 440 amino acids…”
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Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism by Kim, Hyung-Goo, Rosenfeld, Jill A, Scott, Daryl A, Bénédicte, Gerard, Labonne, Jonathan D, Brown, Jason, McGuire, Marianne, Mahida, Sonal, Naidu, Sakkubai, Gutierrez, Jacqueline, Lesca, Gaetan, des Portes, Vincent, Bruel, Ange-Line, Sorlin, Arthur, Xia, Fan, Capri, Yline, Muller, Eric, McKnight, Dianalee, Torti, Erin, Rüschendorf, Franz, Hummel, Oliver, Islam, Zeyaul, Kolatkar, Prasanna R, Layman, Lawrence C, Ryu, Duchwan, Kong, Il-Keun, Madan-Khetarpal, Suneeta, Kim, Cheol-Hee

“…has been associated with intellectual disability and craniofacial anomalies based on its deletion in the Potocki-Shaffer syndrome region at 11p11.2 and its…”
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Early Genetic Testing in Pediatric Epilepsy: Diagnostic and Cost Implications by Swartwood, Shanna M, Morales, Ana, Hatchell, Kathryn E, Moretz, Chad, McKnight, Dianalee, Demmer, Laurie, Chagnon, Sarah, Aradhya, Swaroop, Esplin, Edward D, Bonkowsky, Joshua L

“…The identification of numerous genetically based epilepsies has resulted in the widespread use of genetic testing to inform epilepsy etiology. Our study aims…”
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P490: The impact of machine learning algorithms in reducing VUS for individuals from underrepresented populations compared to well studied populations by Johnson, Britt, Morales, Ana, Facio, Flavia, Fresard, Laure, McKnight, Dianalee, Kobayashi, Yuya, Reuter, Jason, Nykamp, Keith, Aradhya, Swaroop, Colavin, Alexandre

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Current knowledge of SLC6A1-related neurodevelopmental disorders by Goodspeed, Kimberly, Pérez-Palma, Eduardo, Iqbal, Sumaiya, Cooper, Dominique, Scimemi, Annalisa, Johannesen, Katrine M, Stefanski, Arthur, Demarest, Scott, Helbig, Katherine L, Kang, Jingqiong, Shaffo, Frances C, Prentice, Brandon, Brownstein, Catherine A, Lim, Byungchan, Helbig, Ingo, De Los Reyes, Emily, McKnight, Dianalee, Crunelli, Vincenzo, Campbell, Arthur J, Møller, Rikke S, Freed, Amber, Lal, Dennis

“…Abstract Advances in gene discovery have identified genetic variants in the solute carrier family 6 member 1 gene as a monogenic cause of neurodevelopmental…”
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Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing by Zarate, Yuri A., Perry, Hazel, Ben-Omran, Tawfeg, Sellars, Elizabeth A., Stein, Quinn, Almureikhi, Mariam, Simmons, Kirk, Klein, Ophir, Fish, Jennifer, Feingold, Murray, Douglas, Jessica, Kruer, Michael C., Si, Yue, Mao, Rong, McKnight, Dianalee, Gibellini, Federica, Retterer, Kyle, Slavotinek, Anne

“…The SATB2‐associated syndrome (SAS) was recently proposed as a clinically recognizable syndrome that results from deleterious alterations of the SATB2 gene in…”
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