תוצאות חיפוש - Alaimo, Joseph T.

Phenotypic and Molecular Convergence of 2q23.1 Deletion Syndrome with Other Neurodevelopmental Syndromes Associated with Autism Spectrum Disorder מאת Mullegama, Sureni V., Alaimo, Joseph T., Chen, Li, Elsea, Sarah H.

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Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics מאת Hartin, Samantha N., Means, John C., Alaimo, Joseph T., Younger, Scott T.

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Dietary Regimens Modify Early Onset of Obesity in Mice Haploinsufficient for Rai1 מאת Alaimo, Joseph T., Hahn, Natalie H., Mullegama, Sureni V., Elsea, Sarah H.

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Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki–Lupski syndrome diagnosis מאת Alaimo, Joseph T., Mullegama, Sureni V., Thomas, Mary Ann, Elsea, Sarah H.

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SLO-2 isoforms with unique Ca(2+)- and voltage-dependence characteristics confer sensitivity to hypoxia in C. elegans מאת Zhang, Zhe, Tang, Qiong-Yao, Alaimo, Joseph T., Davies, Andrew G., Bettinger, Jill C., Logothetis, Diomedes E.

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Integrated Analysis of Metabolomic Profiling and Exome Data Supplements Sequence Variant Interpretation, Classification, and Diagnosis מאת Alaimo, Joseph T., Glinton, Kevin E., Liu, Ning, Xiao, Jing, Yang, Yaping, Sutton, V. Reid, Elsea, Sarah H.

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TAB2 variants cause cardiovascular heart disease, connective tissue disorder and developmental delay מאת Hanson, Jennifer, Brezavar, Daniel, Hughes, Susan, Amudhavalli, Shivarajan, Fleming, Emily, Zhou, Dihong, Alaimo, Joseph T, Bonnen, Penelope E

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RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki–Lupski Syndrome מאת Mullegama, Sureni V., Alaimo, Joseph T., Fountain, Michael D., Burns, Brooke, Balog, Amanda Hebert, Chen, Li, Elsea, Sarah H.

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Ethanol Metabolism and Osmolarity Modify Behavioral Responses to Ethanol in C. elegans מאת Alaimo, Joseph T., Davis, Scott J., Song, Sam S., Burnette, Christopher R., Grotewiel, Mike, Shelton, Keith L., Pierce-Shimomura, Jonathan T., Davies, Andrew G., Bettinger, Jill C.

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Loss‐of‐function mutations in ISCA2 disrupt 4Fe–4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion מאת Alaimo, Joseph T., Besse, Arnaud, Alston, Charlotte L., Pang, Ki, Appadurai, Vivek, Samanta, Monisha, Smpokou, Patroula, McFarland, Robert, Taylor, Robert W., Bonnen, Penelope E.

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Chloride Intracellular Channels modulate acute ethanol behaviors in Drosophila, C. elegans and mice מאת Bhandari, Poonam, S.Hill, Jennifer, Farris, Sean P., Costin, Blair, Martin, Ian, Chan, Chung- Lung, Alaimo, Joseph T., Bettinger, Jill C., Davies, Andrew G., Miles, Michael F., Grotewiel, Mike

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Smith-Magenis syndrome patients often display antibody deficiency but not other immune pathologies מאת Perkins, Tiffany, Rosenberg, Jacob M., Le Coz, Carole, Alaimo, Joseph T, Trofa, Melissa, Mullegama, Sureni V, Antaya, Richard J, Jyonouchi, Soma, Elsea, Sarah H, Utz, Paul J, Meffre, Eric, Romberg, Neil

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Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype מאת Chen, Li, Jensik, Philip J., Alaimo, Joseph T., Walkiewicz, Magdalena, Berger, Seth, Roeder, Elizabeth, Faqeih, Eissa A., Bernstein, Jonathan A., Smith, Ann C. M., Mullegama, Sureni V., Saffen, David W., Elsea, Sarah H.

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Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency מאת Alston, Charlotte L., Veling, Mike T., Heidler, Juliana, Taylor, Lucie S., Alaimo, Joseph T., Sung, Andrew Y., He, Langping, Hopton, Sila, Broomfield, Alexander, Pavaine, Julija, Diaz, Jullianne, Leon, Eyby, Wolf, Philipp, McFarland, Robert, Prokisch, Holger, Wortmann, Saskia B., Bonnen, Penelope E., Wittig, Ilka, Pagliarini, David J., Taylor, Robert W.

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Genomewide Association Study of Alcohol Dependence Identifies Risk Loci Altering Ethanol-response Behaviors in Model Organisms מאת Adkins, Amy E., Hack, Laura M., Bigdeli, Tim B., Williamson, Vernell S., McMichael, G. Omari, Mamdani, Mohammed, Edwards, Alexis, Aliev, Fazil, Chan, Robin F., Bhandari, Poonam, Raabe, Richard C., Alaimo, Joseph T., Blackwell, GinaMari G., Moscati, Arden A., Poland, Ryan S., Rood, Benjamin, Patterson, Diana G., Walsh, Dermot, Whitfield, John B., Zhu, Gu, Montgomery, Grant W., Henders, Anjali K., Martin, Nicholas G., Heath, Andrew C., Madden, Pamela A.F., Frank, Josef, Ridinger, Monika, Wodarz, Norbert, Soyka, Michael, Zill, Peter, Ising, Marcus, Nöthen, Markus M, Kiefer, Falk, Rietschel, Marcella, Gelernter, Joel, Sherva, Richard, Koesterer, Ryan, Almasy, Laura, Zhao, Hongyu, Kranzler, Henry R., Farrer, Lindsay A., Maher, Brion S., Prescott, Carol A., Dick, Danielle M., Bacanu, Silviu A., Mathies, Laura D., Davies, Andrew G., Vladimirov, Vladimir I., Grotewiel, Mike, Bowers, M. Scott, Bettinger, Jill C., Webb, Bradley T., Miles, Michael F., Kendler, Kenneth S., Riley, Brien P.

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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith... מאת Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A., Suri, Mohnish, Lewis, Andrea M., Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O., Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T., Graham, Brett, Harris, Jill M., Gibson, James B., Pastore, Matthew, McBride, Kim L., Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A., Wierenga, Klaas J., Scott, Daryl A., Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Holder, J. Lloyd, Burrage, Lindsay C., Seaver, Laurie H., Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S., Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K., Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M., Gibbs, Richard A., Elsea, Sarah H., Posey, Jennifer E., Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M., Lupski, James R., Liu, Pengfei

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Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with simila... מאת Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A., Suri, Mohnish, Lewis, Andrea M., Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O., Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T., Graham, Brett, Harris, Jill M., Gibson, James B., Pastore, Matthew, McBride, Kim L., Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A., Wierenga, Klaas J., Scott, Daryl A., Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Lloyd Holder Jr, J., Burrage, Lindsay C., Seaver, Laurie H., Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S., Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K., Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M., Gibbs, Richard A., Elsea, Sarah H., Posey, Jennifer E., Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M., Lupski, James R., Liu, Pengfei

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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome מאת Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Mariëlle, Altmüller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coëslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M., Tang, Sha, Tartaglia, Marco, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe, Bhoj, Elizabeth

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