Lung resistance and elastance in spontaneously breathing preterm infants: effects of breathing pattern and demographics by Pandit, Paresh B, Pyon, Kee H, Courtney, Sherry E, England, Sandra E, Habib, Robert H

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A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele by Crane-Smith, Zoe, De Castro, Sandra C P, Nikolopoulou, Evanthia, Wolujewicz, Paul, Smedley, Damian, Lei, Yunping, Mather, Emma, Santos, Chloe, Hopkinson, Mark, Pitsillides, Andrew A, Finnell, Richard H, Ross, M Elisabeth, Copp, Andrew J, Greene, Nicholas D E

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G3BPs tether the TSC complex to lysosomes and suppress mTORC1 signaling by Prentzell, Mirja Tamara, Rehbein, Ulrike, Cadena Sandoval, Marti, De Meulemeester, Ann-Sofie, Baumeister, Ralf, Brohée, Laura, Berdel, Bianca, Bockwoldt, Mathias, Carroll, Bernadette, Chowdhury, Suvagata Roy, von Deimling, Andreas, Demetriades, Constantinos, Figlia, Gianluca, de Araujo, Mariana Eca Guimaraes, Heberle, Alexander M., Heiland, Ines, Holzwarth, Birgit, Huber, Lukas A., Jaworski, Jacek, Kedra, Magdalena, Kern, Katharina, Kopach, Andrii, Korolchuk, Viktor I., van 't Land-Kuper, Ineke, Macias, Matylda, Nellist, Mark, Palm, Wilhelm, Pusch, Stefan, Ramos Pittol, Jose Miguel, Reil, Michèle, Reintjes, Anja, Reuter, Friederike, Sampson, Julian R., Scheldeman, Chloë, Siekierska, Aleksandra, Stefan, Eduard, Teleman, Aurelio A., Thomas, Laura E., Torres-Quesada, Omar, Trump, Saskia, West, Hannah D., de Witte, Peter, Woltering, Sandra, Yordanov, Teodor E., Zmorzynska, Justyna, Opitz, Christiane A., Thedieck, Kathrin

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A global reference for human genetic variation by Auton, Adam, Brooks, Lisa D, Durbin, Richard M, Garrison, Erik P, Kang, Hyun Min, Korbel, Jan O, Marchini, Jonathan L, McCarthy, Shane, McVean, Gil A, Abecasis, Gonçalo R

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Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis by Dewan, Ramita, Keagle, Pamela, Bacikova, Dagmar, Soltis, Anthony R., Kost, Jason, Colombrita, Claudia, Lewis, Elizabeth A., Pensato, Viviana, Castellotti, Barbara, McLaughlin, Russell L., Comi, Giacomo P., Ceroni, Mauro, Gagliardi, Stella, van Blitterswijk, Marka, Corrado, Lucia, Sorarù, Gianni, Williams, Kelly L., Morrison, Karen E., Veldink, Jan H., Brown, Robert H., Ambrose, John C., Brittain, H., Elgar, Greg, Halai, Dina, Holman, James E., Jackson, Rob, Leong, Ivonne U.S., Maleady-Crowe, Fiona, Mason, Joanne, Riesgo-Ferreiro, Pablo, Rogers, Tim, Watters, Sarah A., Arepalli, Sampath, Chiò, Adriano, Dunckley, Travis L., Faghri, Faraz, Feldman, Eva, Floeter, Mary Kay, Gerhard, Glenn, Jansson, Lilja, Kirby, Janine, Mora, Gabriele, Nalls, Mike A., Pulst, Stefan M., Ravits, John M., Renton, Alan E., Robberecht, Wim, Robey, Ian, Dols-Icardo, Oriol, Illán-Gala, Ignacio, Lleó, Alberto, Khoshnood, Behzad, Sorbi, Sandro, Pastor, Pau, Bigio, Eileen H., Black, Sandra E., Brunetti, Maura, Canosa, Antonio, Gan-Or, Ziv, Goate, Alison, Hupalo, Daniel, Infante, Jon, Kaufmann, Horacio, Kim, Ronald C., Krüger, Rejko, Logroscino, Giancarlo, Love, Seth, Mao, Qinwen, Masliah, Eliezer, Pletnikova, Olga, Reynolds, Regina H., Scherzer, Clemens R., Serrano, Geidy E., Xiromerisiou, Georgia, Phatnani, Hemali, Kwan, Justin, Broach, James R., Arcila-Londono, Ximena, Malaspina, Andrea, Thompson, Leslie M., Dardiotis, Efthimios, Chandran, Siddharthan, Butovsky, Oleg, Dubnau, Joshua, Harms, Matt, Poss, Mary, Phillips-Cremins, Jennifer, Altschuler, Steven, Hu, Michele T.M., Leigh, P. Nigel, Massey, Luke A., Pavese, Nicola, Vaughan, Jenny, Rowe, James B., Ghidoni, Roberta, Ryten, Mina, Tanaka, Toshiko, Ferrucci, Luigi, Vonsattel, Jean Paul, Landers, John E.

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An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy by Pagnamenta, Alistair T, Kaiyrzhanov, Rauan, Zou, Yaqun, Da'as, Sahar I, Maroofian, Reza, Donkervoort, Sandra, Dominik, Natalia, Lauffer, Marlen, Ferla, Matteo P, Orioli, Andrea, Giess, Adam, Tucci, Arianna, Beetz, Christian, Sedghi, Maryam, Ansari, Behnaz, Barresi, Rita, Basiri, Keivan, Cortese, Andrea, Elgar, Greg, Fernandez-Garcia, Miguel A, Yip, Janice, Foley, A Reghan, Gutowski, Nicholas, Jungbluth, Heinz, Lassche, Saskia, Lavin, Tim, Marcelis, Carlo, Marks, Peter, Marini-Bettolo, Chiara, Medne, Livija, Moslemi, Ali-Reza, Sarkozy, Anna, Reilly, Mary M, Muntoni, Francesco, Millan, Francisca, Muraresku, Colleen C, Need, Anna C, Nemeth, Andrea H, Neuhaus, Sarah B, Norwood, Fiona, O'Donnell, Marie, O'Driscoll, Mary, Rankin, Julia, Yum, Sabrina W, Zolkipli-Cunningham, Zarazuela, Brusius, Isabell, Wunderlich, Gilbert, Karakaya, Mert, Wirth, Brunhilde, Fakhro, Khalid A, Tajsharghi, Homa, Bönnemann, Carsten G, Taylor, Jenny C, Houlden, Henry

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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation by Cif, Laura, Demailly, Diane, Lin, Jean-Pierre, Barwick, Katy E, Sa, Mario, Abela, Lucia, Malhotra, Sony, Chong, Wui K, Steel, Dora, Sanchis-Juan, Alba, Ngoh, Adeline, Trump, Natalie, Meyer, Esther, Vasques, Xavier, Rankin, Julia, Allain, Meredith W, Applegate, Carolyn D, Attaripour Isfahani, Sanaz, Baleine, Julien, Balint, Bettina, Bassetti, Jennifer A, Baple, Emma L, Bhatia, Kailash P, Blanchet, Catherine, Burglen, Lydie, Cambonie, Gilles, Seng, Emilie Chan, Bastaraud, Sandra Chantot, Cyprien, Fabienne, Coubes, Christine, d'Hardemare, Vincent, Doja, Asif, Dorison, Nathalie, Doummar, Diane, Dy-Hollins, Marisela E, Farrelly, Ellyn, Fitzpatrick, David R, Fearon, Conor, Fieg, Elizabeth L, Fogel, Brent L, Forman, Eva B, Fox, Rachel G, Gahl, William A, Galosi, Serena, Gonzalez, Victoria, Graves, Tracey D, Gregory, Allison, Hallett, Mark, Hasegawa, Harutomo, Hayflick, Susan J, Hamosh, Ada, Hully, Marie, Jansen, Sandra, Jeong, Suh Young, Krier, Joel B, Krystal, Sidney, Kumar, Kishore R, Laurencin, Chloé, Lee, Hane, Lesca, Gaetan, François, Laurence Lion, Lynch, Timothy, Mahant, Neil, Martinez-Agosto, Julian A, Milesi, Christophe, Mills, Kelly A, Mondain, Michel, Morales-Briceno, Hugo, Ostergaard, John R, Pal, Swasti, Pallais, Juan C, Pavillard, Frédérique, Perrigault, Pierre-Francois, Petersen, Andrea K, Polo, Gustavo, Poulen, Gaetan, Rinne, Tuula, Roujeau, Thomas, Rogers, Caleb, Roubertie, Agathe, Sahagian, Michelle, Schaefer, Elise, Selim, Laila, Selway, Richard, Sharma, Nutan, Signer, Rebecca, Soldatos, Ariane G, Stevenson, David A, Stewart, Fiona, Tchan, Michel, Verma, Ishwar C, de Vries, Bert B A, Wilson, Jenny L, Wong, Derek A, Zaitoun, Raghda, Zhen, Dolly, Znaczko, Anna, Dale, Russell C, de Gusmão, Claudio M, Friedman, Jennifer

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Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations by Hochberg, Irit, Demain, Leigh A.M., Richer, Julie, Thompson, Kyle, Urquhart, Jill E., Rea, Alessandro, Pagarkar, Waheeda, Rodríguez-Palmero, Agustí, Schlüter, Agatha, Verdura, Edgard, Pujol, Aurora, Quijada-Fraile, Pilar, Amberger, Albert, Deutschmann, Andrea J., Demetz, Sandra, Gillespie, Meredith, Belyantseva, Inna A., McMillan, Hugh J., Barzik, Melanie, Beaman, Glenda M., Motha, Reeya, Ng, Kah Ying, O’Sullivan, James, Williams, Simon G., Bhaskar, Sanjeev S., Lawrence, Isabella R., Jenkinson, Emma M., Zambonin, Jessica L., Blumenfeld, Zeev, Yalonetsky, Sergey, Oerum, Stephanie, Rossmanith, Walter, Yue, Wyatt W., Zschocke, Johannes, Munro, Kevin J., Battersby, Brendan J., Friedman, Thomas B., Taylor, Robert W., O’Keefe, Raymond T., Newman, William G.

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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism by Chopra, Maya, McEntagart, Meriel, Clayton-Smith, Jill, Platzer, Konrad, Shukla, Anju, Girisha, Katta M., Kaur, Anupriya, Kaur, Parneet, Pfundt, Rolph, Veenstra-Knol, Hermine, Mancini, Grazia M.S., Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Kortüm, Fanny, Hempel, Maja, Denecke, Jonas, Lehman, Anna, Kleefstra, Tjitske, Stuurman, Kyra E., Wilke, Martina, Thompson, Michelle L., Bebin, E. Martina, Bijlsma, Emilia K., Hoffer, Mariette J.V., Peeters-Scholte, Cacha, Slavotinek, Anne, Weiss, William A., Yip, Tiffany, Hodoglugil, Ugur, Whittle, Amy, diMonda, Janette, Neira, Juanita, Yang, Sandra, Kirby, Amelia, Pinz, Hailey, Lechner, Rosan, Sleutels, Frank, Helbig, Ingo, McKeown, Sarah, Helbig, Katherine, Willaert, Rebecca, Juusola, Jane, Semotok, Jennifer, Hadonou, Medard, Short, John, Yachelevich, Naomi, Lala, Sajel, Fernández-Jaen, Alberto, Pelayo, Janvier Porta, Klöckner, Chiara, Kamphausen, Susanne B., Abou Jamra, Rami, Arelin, Maria, Innes, A. Micheil, Niskakoski, Anni, Amin, Sam, Williams, Maggie, Evans, Julie, Smithson, Sarah, Smedley, Damian, de Burca, Anna, Kini, Usha, Delatycki, Martin B., Gallacher, Lyndon, Yeung, Alison, Pais, Lynn, Field, Michael, Martin, Ellenore, Charles, Perrine, Courtin, Thomas, Keren, Boris, Iascone, Maria, Cereda, Anna, Poke, Gemma, Abadie, Véronique, Chalouhi, Christel, Parthasarathy, Padmini, Halliday, Benjamin J., Robertson, Stephen P., Lyonnet, Stanislas, Amiel, Jeanne, Gordon, Christopher T.

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Rare cancers are not so rare: The rare cancer burden in Europe by Gatta, Gemma, van der Zwan, Jan Maarten, Casali, Paolo G, Siesling, Sabine, Dei Tos, Angelo Paolo, Kunkler, Ian, Otter, Renée, Licitra, Lisa, Mallone, Sandra, Tavilla, Andrea, Trama, Annalisa, Capocaccia, Riccardo

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Dopaminergic therapy in children with restless legs/periodic limb movements in sleep and ADHD by Walters, Arthur S, Mandelbaum, David E, Lewin, Daniel S, Kugler, Steven, England, Sandra J, Miller, Michael

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Preliminary evidence of behavioral and cognitive sequelae of obstructive sleep apnea in children by Lewin, Daniel S, Rosen, Raymond C, England, Sandra J, Dahl, Ronald E

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Carcinoma of endocrine organs: Results of the RARECARE project by van der Zwan, Jan Maarten, Mallone, Sandra, van Dijk, Boukje, Bielska-Lasota, Magdalena, Otter, Renée, Foschi, Roberto, Baudin, Eric, Links, Thera P

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Methodological aspects of estimating rare cancer prevalence in Europe: The experience of the RARECARE project by Mallone, Sandra, De Angelis, Roberta, van der Zwan, Jan Maarten, Trama, Annalisa, Siesling, Sabine, Gatta, Gemma, Capocaccia, Riccardo

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Biomarkers in the Detection of Prostate Cancer in African Americans by Gaston, Sandra M, Grizzle, William E

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Race, Class, and Education: The Politics of Second-Generation Discrimination by Robinson, Sandra F.

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