Phenotypic and Molecular Convergence of 2q23.1 Deletion Syndrome with Other Neurodevelopmental Syndromes Associated with Autism Spectrum Disorder

per Mullegama, Sureni V., Alaimo, Joseph T., Chen, Li, Elsea, Sarah H.
Publicat a Int J Mol Sci (2015)

Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics

per Hartin, Samantha N., Means, John C., Alaimo, Joseph T., Younger, Scott T.
Publicat a Mol Med (2020)

Dietary Regimens Modify Early Onset of Obesity in Mice Haploinsufficient for Rai1

per Alaimo, Joseph T., Hahn, Natalie H., Mullegama, Sureni V., Elsea, Sarah H.
Publicat 2014

Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki–Lupski syndrome diagnosis

per Alaimo, Joseph T., Mullegama, Sureni V., Thomas, Mary Ann, Elsea, Sarah H.
Publicat a Mol Cytogenet (2015)

SLO-2 isoforms with unique Ca(2+)- and voltage-dependence characteristics confer sensitivity to hypoxia in C. elegans

per Zhang, Zhe, Tang, Qiong-Yao, Alaimo, Joseph T., Davies, Andrew G., Bettinger, Jill C., Logothetis, Diomedes E.
Publicat 2013

Integrated Analysis of Metabolomic Profiling and Exome Data Supplements Sequence Variant Interpretation, Classification, and Diagnosis

per Alaimo, Joseph T., Glinton, Kevin E., Liu, Ning, Xiao, Jing, Yang, Yaping, Sutton, V. Reid, Elsea, Sarah H.
Publicat a Genet Med (2020)

RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki–Lupski Syndrome

per Mullegama, Sureni V., Alaimo, Joseph T., Fountain, Michael D., Burns, Brooke, Balog, Amanda Hebert, Chen, Li, Elsea, Sarah H.
Publicat a J Pediatr Genet (2017)

Ethanol Metabolism and Osmolarity Modify Behavioral Responses to Ethanol in C. elegans

per 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.
Publicat 2012

Loss‐of‐function mutations in ISCA2 disrupt 4Fe–4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion

per Alaimo, Joseph T., Besse, Arnaud, Alston, Charlotte L., Pang, Ki, Appadurai, Vivek, Samanta, Monisha, Smpokou, Patroula, McFarland, Robert, Taylor, Robert W., Bonnen, Penelope E.
Publicat a Hum Mutat (2018)

Chloride Intracellular Channels modulate acute ethanol behaviors in Drosophila, C. elegans and mice

per 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
Publicat 2012

Smith-Magenis syndrome patients often display antibody deficiency but not other immune pathologies

per 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
Publicat a J Allergy Clin Immunol Pract (2017)

Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype

per 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.
Publicat a Hum Mutat (2017)

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency

per 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.
Publicat a Am J Hum Genet (2020)

Genomewide Association Study of Alcohol Dependence Identifies Risk Loci Altering Ethanol-response Behaviors in Model Organisms

per 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.
Publicat a Alcohol Clin Exp Res (2017)

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith...

per 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
Publicat a Genome Med (2019)

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with simila...

per 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
Publicat a Genome Med (2019)

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

per 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
Publicat a Eur J Hum Genet (2020)