Search Results - "McGee, Stephen"

P180: Expanding the phenotype spectrum of Mendelian diseases with a genotype-first approach by Sacoto, Maria Guillen, Elloumi, Houda, McGee, Stephen, Ustach, Vincent, Brandt, Tracy

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Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome by Lindy, Amanda S., Bupp, Caleb P., McGee, Stephen J., Steed, Erin, Stevenson, Roger E., Basehore, Monica J., Friez, Michael J.

“…Cenani–Lenz syndrome (CLS) is an autosomal recessive skeletal dysplasia that results in malformations of the distal limb, renal anomalies, and characteristic…”
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HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study by Friez, Michael J, Brooks, Susan Sklower, Stevenson, Roger E, Field, Michael, Basehore, Monica J, Adès, Lesley C, Sebold, Courtney, McGee, Stephen, Saxon, Samantha, Skinner, Cindy, Craig, Maria E, Murray, Lucy, Simensen, Richard J, Yap, Ying Yzu, Shaw, Marie A, Gardner, Alison, Corbett, Mark, Kumar, Raman, Bosshard, Matthias, van Loon, Barbara, Tarpey, Patrick S, Abidi, Fatima, Gecz, Jozef, Schwartz, Charles E

“…BackgroundX linked intellectual disability (XLID) syndromes account for a substantial number of males with ID. Much progress has been made in identifying the…”
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Removal of Pseudobarnacles (epoxy) from silicone coatings with a thickness gradient due to an applied transverse force by Kohl, James G., Malicky, David M., Jones, Adam M., McGee, Stephen L., Purcell, Claribel

“…► Epoxy removed from a silicone coating with thickness gradient by transverse force. ► Initiation, decohesion around edge, complete decohesion were observed. ►…”
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Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases by Torene, Rebecca I., Guillen Sacoto, Maria J., Millan, Francisca, Zhang, Zhancheng, McGee, Stephen, Oetjens, Matthew, Heise, Elizabeth, Chong, Karen, Sidlow, Richard, O’Grady, Lauren, Sahai, Inderneel, Martin, Christa L., Ledbetter, David H., Myers, Scott M., Mitchell, Kevin J., Retterer, Kyle

“…Protein-truncating variants (PTVs) near the 3′ end of genes may escape nonsense-mediated decay (NMD). PTVs in the NMD-escape region (PTVescs) can cause…”
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De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis by Timberlake, Andrew T., McGee, Stephen, Allington, Garrett, Kiziltug, Emre, Wolfe, Erin M., Stiegler, Amy L., Boggon, Titus J., Sanyoura, May, Morrow, Michelle, Wenger, Tara L., Fernandes, Erica M., Caluseriu, Oana, Persing, John A., Jin, Sheng Chih, Lifton, Richard P., Kahle, Kristopher T., Kruszka, Paul

“…Craniosynostosis (CS) is the most common congenital cranial anomaly. Several Mendelian forms of syndromic CS are well described, but a genetic etiology remains…”
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A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus by Singh, Amrita K, Allington, Garrett, Viviano, Stephen, McGee, Stephen, Kiziltug, Emre, Ma, Shaojie, Zhao, Shujuan, Mekbib, Kedous Y, Shohfi, John P, Duy, Phan Q, DeSpenza, Jr, Tyrone, Furey, Charuta G, Reeves, Benjamin C, Smith, Hannah, Sousa, André M M, Cherskov, Adriana, Allocco, August, Nelson-Williams, Carol, Haider, Shozeb, Rizvi, Syed R A, Alper, Seth L, Sestan, Nenad, Shimelis, Hermela, Walsh, Lauren K, Lifton, Richard P, Moreno-De-Luca, Andres, Jin, Sheng Chih, Kruszka, Paul, Deniz, Engin, Kahle, Kristopher T

“…Hydrocephalus, characterized by cerebral ventriculomegaly, is the most common disorder requiring brain surgery in children. Recent studies have implicated…”
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Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions by Ziegler, Alban, Koval-Burt, Carrie, Kay, Denise M, Suchy, Sharon F, Begtrup, Amber, Langley, Katherine G, Hernan, Rebecca, Amendola, Laura M, Boyd, Brenna M, Bradley, Jennifer, Brandt, Tracy, Cohen, Lilian L, Coffey, Alison J, Devaney, Joseph M, Dygulska, Beata, Friedman, Bethany, Fuleihan, Ramsay L, Gyimah, Awura, Hahn, Sihoun, Hofherr, Sean, Hruska, Kathleen S, Hu, Zhanzhi, Jeanne, Médéric, Jin, Guanjun, Johnson, D. Aaron, Kavus, Haluk, Leibel, Rudolph L, Lobritto, Steven J, McGee, Stephen, Milner, Joshua D, McWalter, Kirsty, Monaghan, Kristin G, Orange, Jordan S, Pimentel Soler, Nicole, Quevedo, Yeyson, Ratner, Samantha, Retterer, Kyle, Shah, Ankur, Shapiro, Natasha, Sicko, Robert J, Silver, Eric S, Strom, Samuel, Torene, Rebecca I, Williams, Olatundun, Ustach, Vincent D, Wynn, Julia, Taft, Ryan J, Kruszka, Paul, Caggana, Michele, Chung, Wendy K

“…IMPORTANCE: The feasibility of implementing genome sequencing as an adjunct to traditional newborn screening (NBS) in newborns of different racial and ethnic…”
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Human genetics and molecular genomics of Chiari malformation type 1 by Mekbib, Kedous Y., Muñoz, William, Allington, Garrett, McGee, Stephen, Mehta, Neel H., Shofi, John P., Fortes, Carla, Le, Hao Thi, Nelson-Williams, Carol, Nanda, Pranav, Dennis, Evan, Kundishora, Adam J., Khanna, Arjun, Smith, Hannah, Ocken, Jack, Greenberg, Ana B.W., Wu, Rui, Moreno-De-Luca, Andres, DeSpenza, Tyrone, Zhao, Shujuan, Marlier, Arnaud, Jin, Sheng Chih, Alper, Seth L., Butler, William E., Kahle, Kristopher T.

“…Chiari malformation type 1 (CM1) is the most common structural brain disorder involving the craniocervical junction, characterized by caudal displacement of…”
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Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts by Kundishora, Adam J., Allington, Garrett, McGee, Stephen, Mekbib, Kedous Y., Gainullin, Vladimir, Timberlake, Andrew T., Nelson-Williams, Carol, Kiziltug, Emre, Smith, Hannah, Ocken, Jack, Shohfi, John, Allocco, August, Duy, Phan Q., Elsamadicy, Aladine A., Dong, Weilai, Zhao, Shujuan, Wang, Yung-Chun, Qureshi, Hanya M., DiLuna, Michael L., Mane, Shrikant, Tikhonova, Irina R., Fu, Po-Ying, Castaldi, Christopher, López-Giráldez, Francesc, Knight, James R., Furey, Charuta G., Carter, Bob S., Haider, Shozeb, Moreno-De-Luca, Andres, Alper, Seth L., Gunel, Murat, Millan, Francisca, Lifton, Richard P., Torene, Rebecca I., Jin, Sheng Chih, Kahle, Kristopher T.

“…Cerebral arachnoid cysts (ACs) are one of the most common and poorly understood types of developmental brain lesion. To begin to elucidate AC pathogenesis, we…”
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Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation by Radenkovic, Silvia, Fitzpatrick-Schmidt, Taylor, Byeon, Seul Kee, Madugundu, Anil K., Saraswat, Mayank, Lichty, Angie, Wong, Sunnie Y.W., McGee, Stephen, Kubiak, Katharine, Ligezka, Anna, Ranatunga, Wasantha, Zhang, Yuebo, Wood, Tim, Friez, Michael J., Clarkson, Katie, Pandey, Akhilesh, Jones, Julie R., Morava, Eva

“…Pathogenic alterations in the DPM2 gene have been previously described in patients with hypotonia, progressive muscle weakness, absent psychomotor development,…”
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Multiethnic Prediction of Nicotine Biomarkers and Association With Nicotine Dependence by Bergen, Andrew W, McMahan, Christopher S, McGee, Stephen, Ervin, Carolyn M, Tindle, Hilary A, Le Marchand, Loïc, Murphy, Sharon E, Stram, Daniel O, Patel, Yesha M, Park, Sungshim L, Baurley, James W

“…The nicotine metabolite ratio and nicotine equivalents are measures of metabolism rate and intake. Genome-wide prediction of these nicotine biomarkers in…”
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The illusion of specific capture: surface and solution studies of suboptimal oligonucleotide hybridization by Garhyan, Jaishree, Gharaibeh, Raad Z, McGee, Stephen, Gibas, Cynthia J

“…Hybridization based assays and capture systems depend on the specificity of hybridization between a probe and its intended target. A common guideline in the…”
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Teenage best friends died together: Families' Grief by Farrell McGee, Stephen Audrey

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Donor age influences the growth of rabbit lens epithelial cells in vitro by Reddan, J R, Friedman, T B, Mostafapour, M K, Bondy, R L, Sutherland, S H, McGee, S J, Goldenberg, E M

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Both human and newborn rabbit lens epithelial cells exhibit similar limited growth properties in tissue culture by Reddan, J R, McGee, S J, Goldenberg, E M, Dziedzic, D C

“…Human lens cells from 5-91-year old individuals were cultured in 8 different basal media containing fetal bovine, adult bovine, rabbit or human serum or human…”
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Establishment and characterization of a lens epithelial cell line from an eight year old rabbit by Reddan, J R, Dziedzic, D C, Mostafapour, M K, McGee, S J, Schwartz, C A

“…Although information is available on the in vitro properties of lens epithelia of young adult animals from several species, few, if any reports document the…”
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Establishment of epithelial cell lines from individual rabbit lenses by Reddan, John R., Friedman, Thomas B., Mostafapour, M. Kazem, Sutherland, Steven H., Bondy, Robert L., McGee, Stephen J., Goldenberg, Eric M.

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