Search Results - "McKnight, Dianalee A"

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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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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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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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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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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Small Integrin-Binding Proteins as Serum Markers for Prostate Cancer Detection by JAIN, Alka, MCKNIGHT, Dianalee A, FISHER, Larry W, HUMPHREYS, Elizabeth B, MANGOLD, Leslie A, PARTIN, Alan W, FEDARKO, Neal S

“…Purpose: The small integrin-binding ligand N-linked glycoprotein (SIBLING) gene family includes bone sialoprotein (BSP), dentin matrix protein 1 (DMP1), dentin…”
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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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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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comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene by McKnight, Dianalee A, Suzanne Hart, P, Hart, Thomas C, Hartsfield, James K, Wilson, Anne, Wright, J. Timothy, Fisher, Larry W

“…Within nine dentin dysplasia (DD) (type II) and dentinogenesis imperfecta (type II and III) patient/families, seven have 1 of 4 net -1 deletions within the…”
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Roles of osteonectin in the migration of breast cancer cells into bone by Campo McKnight, Dianalee A., Sosnoski, Donna M., Koblinski, Jennifer E., Gay, Carol V.

“…The focus of this study was to gain insight into the role(s) of osteonectin in the preferential metastasis of breast cancer cells to bone. Osteonectin was…”
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eP119: The landscape of peripheral neuropathy genetics: When common causes are not actually the cause by Roggenbuck, Jennifer, Mitchel, Asia, Morales, Ana, Stetler, Molly, Tan, Chris, Aradhya, Swaroop, McKnight, Dianalee A., Winder, Tom, Esplin, Edward

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Long-chain fatty acid oxidation disorders gene panel: clinical findings from a sponsored genetic testing program by Miller, Vanessa Rangel, Chettiath, Tobin, Johnson, Britt, Marsden, Deborah, McKnight, Dianalee A., Sarafrazi, Sue, Sommerville, Richard, Willcock, Andrew, Miller, Nicole

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eP171 - Long-chain fatty acid oxidation disorders gene panel: clinical findings from a sponsored genetic testing program by Miller, Vanessa Rangel, Chettiath, Tobin, Johnson, Britt, Marsden, Deborah, McKnight, Dianalee A., Sarafrazi, Sue, Sommerville, Richard, Willcock, Andrew, Miller, Nicole

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Clinical utility of a sponsored gene panel testing program for pediatric epilepsy and CLN2 disease diagnosis: results from 10,853 tests by Pang, Tiffany, Truty, Rebecca, McKnight, Dianalee A., Johnson, Britt, Morales, Ana, Bristow, Sara L., Izzo, Emanuela, Seratti, Guillermo, Koh, Sookyong, Wirrell, Elaine C., Millichap, John J., Aradhya, Swaroop

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eP319 - Clinical utility of a sponsored gene panel testing program for pediatric epilepsy and CLN2 disease diagnosis: results from 10,853 tests by Pang, Tiffany, Truty, Rebecca, McKnight, Dianalee A., Johnson, Britt, Morales, Ana, Bristow, Sara L., Izzo, Emanuela, Seratti, Guillermo, Koh, Sookyong, Wirrell, Elaine C., Millichap, John J., Aradhya, Swaroop

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Clinical utility of a sponsored gene panel testing program for pediatric epilepsy and CLN2 disease diagnosis: Results from 4246 tests by Pang, Tiffany, Leal-Pardinas, Fernanda, Truty, Rebecca, McKnight, Dianalee A., Johnson, Britt, Morales, Ana, Bristow, Sara L., Izzo, Emanuela, Cohen-Pfeffer, Jessica, Sankar, Raman, Koh, Sookyong, Wirrell, Elaine C., Millichap, John J., Aradhya, Swaroop

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Rough Endoplasmic Reticulum (rER) Trafficking Errors by Different Classes of Mutant DSPP Cause the 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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