Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations von Li, Yun Rose, Glessner, Joseph T., Coe, Bradley P., Li, Jin, Mohebnasab, Maede, Chang, Xiao, Connolly, John, Kao, Charlly, Wei, Zhi, Bradfield, Jonathan, Kim, Cecilia, Hou, Cuiping, Khan, Munir, Mentch, Frank, Qiu, Haijun, Bakay, Marina, Cardinale, Christopher, Lemma, Maria, Abrams, Debra, Bridglall-Jhingoor, Andrew, Behr, Meckenzie, Harrison, Shanell, Otieno, George, Thomas, Alexandria, Wang, Fengxiang, Chiavacci, Rosetta, Wu, Lawrence, Hadley, Dexter, Goldmuntz, Elizabeth, Elia, Josephine, Maris, John, Grundmeier, Robert, Devoto, Marcella, Keating, Brendan, March, Michael, Pellagrino, Renata, Grant, Struan F. A., Sleiman, Patrick M. A., Li, Mingyao, Eichler, Evan E., Hakonarson, Hakon

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Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma von Diskin, Sharon J, Capasso, Mario, Schnepp, Robert W, Cole, Kristina A, Attiyeh, Edward F, Hou, Cuiping, Diamond, Maura, Carpenter, Erica L, Winter, Cynthia, Lee, Hanna, Jagannathan, Jayanti, Latorre, Valeria, Iolascon, Achille, Hakonarson, Hakon, Devoto, Marcella, Maris, John M

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Identification of ALK as a major familial neuroblastoma predisposition gene von Mossé, Yaël P., Laudenslager, Marci, Longo, Luca, Cole, Kristina A., Wood, Andrew, Attiyeh, Edward F., Laquaglia, Michael J., Sennett, Rachel, Lynch, Jill E., Perri, Patrizia, Laureys, Geneviève, Speleman, Frank, Kim, Cecilia, Hou, Cuiping, Hakonarson, Hakon, Torkamani, Ali, Schork, Nicholas J., Brodeur, Garrett M., Tonini, Gian P., Rappaport, Eric, Devoto, Marcella, Maris, John M.

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Effect of Different Disease-Modifying Therapies on Humoral Response to BNT162b2 Vaccine in Sardinian Multiple Sclerosis Patients von Pitzalis, Maristella, Idda, Maria Laura, Lodde, Valeria, Loizedda, Annalisa, Lobina, Monia, Zoledziewska, Magdalena, Virdis, Francesca, Delogu, Giuseppe, Pirinu, Federica, Marini, Maria Giuseppina, Mingoia, Maura, Frau, Jessica, Lorefice, Lorena, Fronza, Marzia, Carmagnini, Daniele, Carta, Elisa, Orrù, Valeria, Uzzau, Sergio, Solla, Paolo, Loi, Federica, Devoto, Marcella, Steri, Maristella, Fiorillo, Edoardo, Floris, Matteo, Zarbo, Ignazio Roberto, Cocco, Eleonora, Cucca, Francesco

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A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1 von Chen, Ying, Gilbert, Melissa A, Grochowski, Christopher M, McEldrew, Deborah, Llewellyn, Jessica, Waisbourd-Zinman, Orith, Hakonarson, Hakon, Bailey-Wilson, Joan E, Russo, Pierre, Wells, Rebecca G, Loomes, Kathleen M, Spinner, Nancy B, Devoto, Marcella

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Exome Sequencing in Individuals with Isolated Biliary Atresia von Rajagopalan, Ramakrishnan, Tsai, Ellen A., Grochowski, Christopher M., Kelly, Susan M., Loomes, Kathleen M., Spinner, Nancy B., Devoto, Marcella

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Effect of Genetic Factors, Age and Sex on Levels of Circulating Extracellular Vesicles and Platelets von Orrù, Valeria, Virdis, Francesca, Marongiu, Michele, Serra, Valentina, Schlessinger, David, Devoto, Marcella, Cucca, Francesco, Fiorillo, Edoardo

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Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma von McDaniel, Lee D, Conkrite, Karina L, Chang, Xiao, Capasso, Mario, Vaksman, Zalman, Oldridge, Derek A, Zachariou, Anna, Horn, Millicent, Diamond, Maura, Hou, Cuiping, Iolascon, Achille, Hakonarson, Hakon, Rahman, Nazneen, Devoto, Marcella, Diskin, Sharon J

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Rare Variants in TP53 and Susceptibility to Neuroblastoma von DISKIN, Sharon J, CAPASSO, Mario, MARIS, John M, DIAMOND, Maura, OLDRIDGE, Derek A, CONKRITE, Karina, BOSSE, Kristopher R, RUSSELL, Mike R, IOLASCON, Achille, HAKONARSON, Hakon, DEVOTO, Marcella

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Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice von Zou, Yaqun, Zwolanek, Daniela, Izu, Yayoi, Gandhy, Shreya, Schreiber, Gudrun, Brockmann, Knut, Devoto, Marcella, Tian, Zuozhen, Hu, Ying, Veit, Guido, Meier, Markus, Stetefeld, Jörg, Hicks, Debbie, Straub, Volker, Voermans, Nicol C, Birk, David E, Barton, Elisabeth R, Koch, Manuel, Bönnemann, Carsten G

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Transcriptome organization of white blood cells through gene co-expression network analysis in a large RNA-seq dataset von Forabosco, Paola, Pala, Mauro, Crobu, Francesca, Diana, Maria Antonietta, Marongiu, Mara, Cusano, Roberto, Angius, Andrea, Steri, Maristella, Orrù, Valeria, Schlessinger, David, Fiorillo, Edoardo, Devoto, Marcella, Cucca, Francesco

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Common variations in BARD1 influence susceptibility to high-risk neuroblastoma von Devoto, Marcella, Hakonarson, Hakon, Maris, John M, Capasso, Mario, Hou, Cuiping, Asgharzadeh, Shahab, Glessner, Joseph T, Attiyeh, Edward F, Mosse, Yael P, Kim, Cecilia, Diskin, Sharon J, Cole, Kristina A, Bosse, Kristopher, Diamond, Maura, Laudenslager, Marci, Winter, Cynthia, Bradfield, Jonathan P, Scott, Richard H, Jagannathan, Jayanti, Garris, Maria, McConville, Carmel, London, Wendy B, Seeger, Robert C, Grant, Struan F A, Li, Hongzhe, Rahman, Nazneen, Rappaport, Eric

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Variants of DENND1B Associated with Asthma in Children von Sleiman, Patrick M.A, Flory, James, Imielinski, Marcin, Bradfield, Jonathan P, Annaiah, Kiran, Willis-Owen, Saffron A.G, Wang, Kai, Rafaels, Nicholas M, Michel, Sven, Bonnelykke, Klaus, Zhang, Haitao, Kim, Cecilia E, Frackelton, Edward C, Glessner, Joseph T, Hou, Cuiping, Otieno, F. George, Santa, Erin, Thomas, Kelly, Smith, Ryan M, Glaberson, Wendy R, Garris, Maria, Chiavacci, Rosetta M, Beaty, Terri H, Ruczinski, Ingo, Orange, Jordan M, Allen, Julian, Spergel, Jonathan M, Grundmeier, Robert, Mathias, Rasika A, Christie, Jason D, von Mutius, Erika, Cookson, William O.C, Kabesch, Michael, Moffatt, Miriam F, Grunstein, Michael M, Barnes, Kathleen C, Devoto, Marcella, Magnusson, Mark, Li, Hongzhe, Grant, Struan F.A, Bisgaard, Hans, Hakonarson, Hakon

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Phenotype restricted genome-wide association study using a gene-centric approach identifies three low-risk neuroblastoma susceptibility Loci von Nguyen, Le B, Diskin, Sharon J, Capasso, Mario, Wang, Kai, Diamond, Maura A, Glessner, Joseph, Kim, Cecilia, Attiyeh, Edward F, Mosse, Yael P, Cole, Kristina, Iolascon, Achille, Devoto, Marcella, Hakonarson, Hakon, Li, Hongzhe K, Maris, John M

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The intestinal microbiome of inflammatory bowel disease across the pediatric age range von Conrad, Máire A., Bittinger, Kyle, Ren, Yue, Kachelries, Kelly, Vales, Jennifer, Li, Hongzhe, Wu, Gary D., Bushman, Frederic D., Devoto, Marcella, Baldassano, Robert N, Kelsen, Judith R.

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genome-wide association study identifies KIAA0350 as a type 1 diabetes gene von HAKONARSON, Hakon, GRANT, Struan F. A, LAWSON, Margaret L, ROBINSON, Luke J, SKRABAN, Robert, YANG LU, CHIAVACCI, Rosetta M, STANLEY, Charles A, KIRSCH, Susan E, RAPPAPORT, Eric F, ORANGE, Jordan S, MONOS, Dimitri S, BRADFIELD, Jonathan P, DEVOTO, Marcella, QU, Hui-Qi, POLYCHRONAKOS, Constantin, MARCHAND, Luc, KIM, Cecilia E, GLESSNER, Joseph T, GRABS, Rosemarie, CASALUNOVO, Tracy, TABACK, Shayne P, FRACKELTON, Edward C

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Developmental Dysplasia of the Hip: Linkage Mapping and Whole Exome Sequencing Identify a Shared Variant in CX3CR1 in All Affected Members of a Large Multigeneration Family von Feldman, George J, Parvizi, Javad, Levenstien, Mark, Scott, Kathryn, Erickson, Jill A, Fortina, Paolo, Devoto, Marcella, Peters, Christopher L

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Copy Number Variation of the glucose transporter gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome von Mlynarski, Elisabeth E., Sheridan, Molly B., Xie, Michael, Guo, Tingwei, Racedo, Silvia E., McDonald McGinn, Donna M., Gai, Xiaowu, Chow, Eva W.C., Vorstman, Jacob, Swillen, Ann, Devriendt, Koen, Breckpot, Jeroen, Digilio, Maria Cristina, Marino, Bruno, Dallapiccola, Bruno, Philip, Nicole, Simon, Tony J., Roberts, Amy E., Piotrowicz, Małgorzata, Bearden, Carrie E., Eliez, Stephan, Gothelf, Doron, Coleman, Karlene, Kates, Wendy R., Devoto, Marcella, Zackai, Elaine, Heine-Suñer, Damian, Shaikh, Tamim H., Bassett, Anne S., Goldmuntz, Elizabeth, Morrow, Bernice E., Emanuel, Beverly S.

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Implications of disease-modifying therapies for multiple sclerosis on immune cells and response to COVID-19 vaccination von Orrù, Valeria, Serra, Valentina, Marongiu, Michele, Lai, Sandra, Lodde, Valeria, Zoledziewska, Magdalena, Steri, Maristella, Loizedda, Annalisa, Lobina, Monia, Piras, Maria Grazia, Virdis, Francesca, Delogu, Giuseppe, Marini, Maria Giuseppina, Mingoia, Maura, Floris, Matteo, Masala, Marco, Castelli, M Paola, Mostallino, Rafaela, Frau, Jessica, Lorefice, Lorena, Farina, Gabriele, Fronza, Marzia, Carmagnini, Daniele, Carta, Elisa, Pilotto, Silvy, Chessa, Paola, Devoto, Marcella, Castiglia, Paolo, Solla, Paolo, Zarbo, Roberto Ignazio, Idda, Maria Laura, Pitzalis, Maristella, Cocco, Eleonora, Fiorillo, Edoardo, Cucca, Francesco

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Genetic modifiers of β-thalassemia and clinical severity as assessed by age at first transfusion von DANJOU, Fabrice, ANNI, Franco, PERSEU, Lucia, SATTA, Stefania, DESSI, Carlo, LAI, Maria Eliana, FORTINA, Paolo, DEVOTO, Marcella, GALANELLO, Renzo

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