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Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2‐related disorders
Lorca, Rebeca, Pannone, Luca, Cuesta‐Llavona, Elías, Bocchinfuso, Gianfranco, Rodríguez‐Reguero, Julian, Carpentieri, Giovanna, Hernando, Inés, Flex, Elisabetta, Tartaglia, Marco, Coto, Eliecer, Gómez, Juan, Martinelli, Simone
Published in Clinical genetics (01.03.2021)
Published in Clinical genetics (01.03.2021)
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Journal Article
Loss of heterozygosity: what is it good for?
Ryland, Georgina L., Doyle, Maria A., Goode, David, Boyle, Samantha E., Choong, David Y.H., Rowley, Simone M., Li, Jason, Bowtell, David DL, Tothill, Richard W., Campbell, Ian G., Gorringe, Kylie L.
Published in BMC medical genomics (01.08.2015)
Published in BMC medical genomics (01.08.2015)
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Journal Article
Alpha-1 Antitrypsin MZ Heterozygosity Is an Endotype of Chronic Obstructive Pulmonary Disease
Ghosh, Auyon J., Hobbs, Brian D., Moll, Matthew, Saferali, Aabida, Boueiz, Adel, Yun, Jeong H., Sciurba, Frank, Barwick, Lucas, Limper, Andrew H., Flaherty, Kevin, Criner, Gerard, Brown, Kevin K., Wise, Robert, Martinez, Fernando J., Lomas, David, Castaldi, Peter J., Carey, Vincent J., DeMeo, Dawn L., Cho, Michael H., Silverman, Edwin K., Hersh, Craig P., Crapo, James D., Silverman, Edwin K., Make, Barry J., Regan, Elizabeth A., Beaty, Terri H., Castaldi, Peter J., Cho, Michael H., DeMeo, Dawn L., El-Boueiz, Adel, Foreman, Marilyn G., Ghosh, Auyon J., Hayden, Lystra P., Hersh, Craig P., Hetmanski, Jacqueline, Hobbs, Brian D., Hokanson, John E., Kim, Wonji, Laird, Nan, Lange, Christoph, Lutz, Sharon M., McDonald, Merry-Lynn, Prokopenko, Dmitry, Moll, Matthew, Morrow, Jarrett, Qiao, Dandi, Saferali, Aabida, Sakornsakolpat, Phuwanat, Wan, Emily S., Yun, Jeong H., Centeno, Juan Pablo, Charbonnier, Jean-Paul, Coxson, Harvey O., Galban, Craig J., Han, MeiLan K., Hoffman, Eric A., Humphries, Stephen, Jacobson, Francine L., Judy, Philip F., Kazerooni, Ella A., Kluiber, Alex, Lynch, David A., Nardelli, Pietro, Newell, John D., Notary, Aleena, Oh, Andrea, Ross, James C., Estepar, Raul San Jose, Schroeder, Joyce, Sieren, Jered, Stoel, Berend C., Tschirren, Juerg, Van Beek, Edwin, van Ginneken, Bram, van Rikxoort, Eva, Sanchez-Ferrero, Gonzalo Vegas, Veitel, Lucas, Washko, George R., Wilson, Carla G., Jensen, Robert, Everett, Douglas, Crooks, Jim, Pratte, Katherine, Strand, Matt, Austin, Erin, Kinney, Gregory, Young, Kendra A., Bhatt, Surya P., Bon, Jessica, Diaz, Alejandro A., Make, Barry, Murray, Susan, Regan, Elizabeth, Soler, Xavier, Bowler, Russell P., Kechris, Katerina, Banaei-Kashani, Farnoush, Curtis, Jeffrey L., Pernicano, Perry G., Hanania, Nicola
Published in American journal of respiratory and critical care medicine (01.02.2022)
Published in American journal of respiratory and critical care medicine (01.02.2022)
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Journal Article
Compound and Digenic Heterozygosity Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy
Xu, Tianhong, Yang, Zhao, Vatta, Matteo, Rampazzo, Alessandra, Beffagna, Giorgia, Pillichou, Kalliopi, Scherer, Steven E., Saffitz, Jeffrey, Kravitz, Joshua, Zareba, Wojciech, Danieli, Gian Antonio, Lorenzon, Alessandra, Nava, Andrea, Bauce, Barbara, Thiene, Gaetano, Basso, Cristina, Calkins, Hugh, Gear, Kathy, Marcus, Frank, Towbin, Jeffrey A.
Published in Journal of the American College of Cardiology (09.02.2010)
Published in Journal of the American College of Cardiology (09.02.2010)
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Journal Article
Heteropolymerization of α-1-antitrypsin mutants in cell models mimicking heterozygosity
Laffranchi, Mattia, Berardelli, Romina, Ronzoni, Riccardo, Lomas, David A, Fra, Annamaria
Published in Human molecular genetics (15.05.2018)
Published in Human molecular genetics (15.05.2018)
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Journal Article
KLVS heterozygosity reduces brain amyloid in asymptomatic at- risk APOE4 carriers
Belloy, Michael E., Eger, Sarah J., Le Guen, Yann, Napolioni, Valerio, Deters, Kacie D., Yang, Hyun-Sik, Scelsi, Marzia A., Porter, Tenielle, James, Sarah-Naomi, Wong, Andrew, Schott, Jonathan M., Sperling, Reisa A., Laws, Simon M., Mormino, Elisabeth C., He, Zihuai, Han, Summer S., Altmann, Andre, Greicius, Michael D.
Published in Neurobiology of aging (01.05.2021)
Published in Neurobiology of aging (01.05.2021)
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Journal Article
Heterozygosity for the Mood Disorder-Associated Variant Gln460Arg Alters P2X7 Receptor Function and Sleep Quality
Metzger, Michael W., Walser, Sandra M., Dedic, Nina, Aprile-Garcia, Fernando, Jakubcakova, Vladimira, Adamczyk, Marek, Webb, Katharine J., Uhr, Manfred, Refojo, Damian, Schmidt, Mathias V., Friess, Elisabeth, Steiger, Axel, Kimura, Mayumi, Chen, Alon, Holsboer, Florian, Arzt, Eduardo, Wurst, Wolfgang, Deussing, Jan M.
Published in The Journal of neuroscience (29.11.2017)
Published in The Journal of neuroscience (29.11.2017)
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Journal Article
Heterozygosity for transmembrane activator and calcium modulator ligand interactor A144E causes haploinsufficiency and pneumococcal susceptibility in mice
Jabara, Haifa H., Lee, John J., Janssen, Erin, Ullas, Sumana, Liadaki, Kyriaki, Garibyan, Lilit, Benson, Halli, Sannikova, Tatyana, Bram, Richard, Hammarstrom, Lennart, Cruz, Anthony C., Siegel, Richard, Manis, John, Malley, Richard, Geha, Raif S.
Published in Journal of allergy and clinical immunology (01.04.2017)
Published in Journal of allergy and clinical immunology (01.04.2017)
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Journal Article
Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements
Carvalho, Claudia M.B., Pfundt, Rolph, King, Daniel A., Lindsay, Sarah J., Zuccherato, Luciana W., Macville, Merryn V.E., Liu, Pengfei, Johnson, Diana, Stankiewicz, Pawel, Brown, Chester W., Shaw, Chad A., Hurles, Matthew E., Ira, Grzegorz, Hastings, P.J., Brunner, Han G., Lupski, James R.
Published in American journal of human genetics (02.04.2015)
Published in American journal of human genetics (02.04.2015)
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Journal Article
KL∗VS heterozygosity reduces brain amyloid in asymptomatic at-risk APOE∗4 carriers
Belloy, Michael E., Eger, Sarah J., Le Guen, Yann, Napolioni, Valerio, Deters, Kacie D., Yang, Hyun-Sik, Scelsi, Marzia A., Porter, Tenielle, James, Sarah-Naomi, Wong, Andrew, Schott, Jonathan M., Sperling, Reisa A., Laws, Simon M., Mormino, Elisabeth C., He, Zihuai, Han, Summer S., Altmann, Andre, Greicius, Michael D.
Published in Neurobiology of aging (01.05.2021)
Published in Neurobiology of aging (01.05.2021)
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Journal Article
Prognostic Value of Copy Number Aberrations and Copy Neutral Loss of Heterozygosity in Acute Myeloid Leukemia
Raychaudhuri, Suravi, Gooley, Ted, Qu, Xiaoyu, Shaw, Carole, Russell, Kathryn, Vyas, Rutu D., Appelbaum, Jacob S., Halpern, Anna B., Walter, Roland B., Fang, Min, Percival, Mary-Elizabeth M.
Published in Blood (02.11.2023)
Published in Blood (02.11.2023)
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Journal Article
Heterozygosity for a Pathogenic Variant in SLC12A3 That Causes Autosomal Recessive Gitelman Syndrome Is Associated with Lower Serum Potassium
Wan, Xuesi, Perry, James, Zhang, Haichen, Jin, Feng, Ryan, Kathleen A., Van Hout, Cristopher, Reid, Jeffrey, Overton, John, Baras, Aris, Han, Zhe, Streeten, Elizabeth, Li, Yanbing, Mitchell, Braxton D., Shuldiner, Alan R., Fu, Mao
Published in Journal of the American Society of Nephrology (01.03.2021)
Published in Journal of the American Society of Nephrology (01.03.2021)
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Journal Article
Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis
Sofia, Valentina Maria, Surace, Cecilia, Terlizzi, Vito, Da Sacco, Letizia, Alghisi, Federico, Angiolillo, Antonella, Braggion, Cesare, Cirilli, Natalia, Colombo, Carla, Di Lullo, Antonella, Padoan, Rita, Quattrucci, Serena, Raia, Valeria, Tuccio, Giuseppe, Zarrilli, Federica, Tomaiuolo, Anna Cristina, Novelli, Antonio, Lucidi, Vincenzina, Lucarelli, Marco, Castaldo, Giuseppe, Angioni, Adriano
Published in Molecular medicine (Cambridge, Mass.) (27.07.2018)
Published in Molecular medicine (Cambridge, Mass.) (27.07.2018)
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Journal Article
Ext1 heterozygosity causes a modest effect on postprandial lipid clearance in humans[S]
Mooij, Hans L., Bernelot Moens, Sophie J., Gordts, PhilipL.S.M., Stanford, KristinI, Foley, ErinM, van den Boogert, MarjoleinA.W., Witjes, JuliaJ, Hassing, H.Carlijne, Tanck, MichaelW, van de Sande, MichielA.J., Levels, J.Han, Kastelein, JohnJ.P., Stroes, ErikS.G., Dallinga-Thie, GeesjeM, Esko, JeffD, Nieuwdorp, Max
Published in Journal of lipid research (01.03.2015)
Published in Journal of lipid research (01.03.2015)
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Journal Article
Intraspecific variation of residual heterozygosity and its utility for quantitative genetic studies in maize
Liu, Nannan, Liu, Jianxiao, Li, Wenqiang, Pan, Qingchun, Liu, Jie, Yang, Xiaohong, Yan, Jianbing, Xiao, Yingjie
Published in BMC plant biology (19.04.2018)
Published in BMC plant biology (19.04.2018)
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Journal Article