In vitro and in vivo evidence that the switch from calcineurin to mTOR inhibitors may be a strategy for immunosuppression in Epstein–Barr virus–associated post-transplant lymphoproliferative disorder

Authors: Thieme, Constantin J., Schulz, Malissa, Wehler, Patrizia, Anft, Moritz, Amini, Leila, Blàzquez-Navarro, Arturo, Stervbo, Ulrik, Hecht, Jochen, Nienen, Mikalai, Stittrich, Anna-Barbara, Choi, Mira, Zgoura, Panagiota, Viebahn, Richard, Schmueck-Henneresse, Michael, Reinke, Petra, Westhoff, Timm H., Roch, Toralf, Babel, Nina

Source: In Kidney International December 2022 102(6):1392-1408

Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features

Authors: Kornak, Uwe, Saha, Namrata, Keren, Boris, Neumann, Alexander, Taylor Tavares, Ana Lisa, Piard, Juliette, Kopp, Johannes, Rodrigues Alves, João Guilherme, Rodríguez de los Santos, Miguel, El Choubassi, Naji, Ehmke, Nadja, Jäger, Marten, Spielmann, Malte, Pantel, Jean Tori, Lejeune, Elodie, Fauler, Beatrix, Mielke, Thorsten, Hecht, Jochen, Meierhofer, David, Strom, Tim M., Laugel, Vincent, Brice, Alexis, Mundlos, Stefan, Bertoli-Avella, Aida, Bauer, Peter, Heyd, Florian, Boute, Odile, Dupont, Juliette, Depienne, Christel, Van Maldergem, Lionel, Fischer-Zirnsak, Björn

Source: In Genetics in Medicine September 2022 24(9):1927-1940

Population dynamics and genetic connectivity in recent chimpanzee history

Authors: Fontsere, Claudia, Kuhlwilm, Martin, Morcillo-Suarez, Carlos, Alvarez-Estape, Marina, Lester, Jack D., Gratton, Paolo, Schmidt, Joshua M., Dieguez, Paula, Aebischer, Thierry, Álvarez-Varona, Paula, Agbor, Anthony, Angedakin, Samuel, Assumang, Alfred K., Ayimisin, Emmanuel A., Bailey, Emma, Barubiyo, Donatienne, Bessone, Mattia, Carretero-Alonso, Andrea, Chancellor, Rebecca, Cohen, Heather, Danquah, Emmanuel, Deschner, Tobias, Dunn, Andrew, Dupain, Jef, Egbe, Villard E., Feliu, Olga, Goedmakers, Annemarie, Granjon, Anne-Céline, Head, Josephine, Hedwig, Daniela, Hermans, Veerle, Hernandez-Aguilar, R. Adriana, Imong, Inaoyom, Jones, Sorrel, Junker, Jessica, Kadam, Parag, Kaiser, Mike, Kambere, Mbangi, Kambale, Magloire V., Kalan, Ammie K., Kienast, Ivonne, Kujirakwinja, Deo, Langergraber, Kevin, Lapuente, Juan, Larson, Bradley, Laudisoit, Anne, Lee, Kevin, Llana, Manuel, Llorente, Miquel, Marrocoli, Sergio, Morgan, David, Mulindahabi, Felix, Murai, Mizuki, Neil, Emily, Nicholl, Sonia, Nixon, Stuart, Normand, Emma, Orbell, Chris, Ormsby, Lucy J., Pacheco, Liliana, Piel, Alex, Riera, Laura, Robbins, Martha M., Rundus, Aaron, Sanz, Crickette, Sciaky, Lilah, Sommer, Volker, Stewart, Fiona A., Tagg, Nikki, Tédonzong, Luc Roscelin, Ton, Els, van Schijndel, Joost, Vergnes, Virginie, Wessling, Erin G., Willie, Jacob, Wittig, Roman M., Yuh, Yisa G., Yurkiw, Kyle, Zuberbuehler, Klaus, Hecht, Jochen, Vigilant, Linda, Boesch, Christophe, Andrés, Aida M., Hughes, David A., Kühl, Hjalmar S., Lizano, Esther, Arandjelovic, Mimi, Marques-Bonet, Tomas

Source: In Cell Genomics 8 June 2022 2(6)

A global metagenomic map of urban microbiomes and antimicrobial resistance

Authors: Abdullah, Natasha, Abraao, Marcos, Adel, Ait-hamlat, Afaq, Muhammad, Al-Quaddoomi, Faisal S., Alam, Ireen, Albuquerque, Gabriela E., Alexiev, Alex, Ali, Kalyn, Alvarado-Arnez, Lucia E., Aly, Sarh, Amachee, Jennifer, Amorim, Maria G., Ampadu, Majelia, Amran, Muhammad Al-Fath, An, Nala, Andrew, Watson, Andrianjakarivony, Harilanto, Angelov, Michael, Antelo, Verónica, Aquino, Catharine, Aranguren, Álvaro, Araujo, Luiza F., Vasquez Arevalo, Hitler Francois, Arevalo, Jenny, Arnan, Carme, Alvarado Arnez, Lucia Elena, Arredondo, Fernanda, Arthur, Matthew, Asenjo, Freddy, Aung, Thomas Saw, Auvinet, Juliette, Aventin, Nuria, Ayaz, Sadaf, Baburyan, Silva, Bakere, Abd-Manaaf, Bakhl, Katrin, Bartelli, Thais F., Batdelger, Erdenetsetseg, Baudon, François, Becher, Kevin, Bello, Carla, Benchouaia, Médine, Benisty, Hannah, Benoiston, Anne-Sophie, Benson, Joseph, Benítez, Diego, Bernardes, Juliana, Bertrand, Denis, Beurmann, Silvia, Bitard-Feildel, Tristan, Bittner, Lucie, Black, Christina, Blanc, Guillaume, Blyther, Brittany, Bode, Toni, Boeri, Julia, Boldgiv, Bazartseren, Bolzli, Kevin, Bordigoni, Alexia, Borrelli, Ciro, Bouchard, Sonia, Bouly, Jean-Pierre, Boyd, Alicia, Branco, Gabriela P., Breschi, Alessandra, Brindefalk, Björn, Brion, Christian, Briones, Alan, Buczansla, Paulina, Burke, Catherine M., Burrell, Aszia, Butova, Alina, Buttar, Irvind, Bynoe, Jalia, Bönigk, Sven, Bøifot, Kari O., Caballero, Hiram, Cai, Xiao Wen, Calderon, Dayana, Cantillo, Angela, Carbajo, Miguel, Carbone, Alessandra, Cardenas, Anais, Carrillo, Katerine, Casalot, Laurie, Castro, Sofia, Castro, Ana V., Castro, Astred, Castro, Ana Valeria B., Cawthorne, Simone, Cedillo, Jonathan, Chaker, Salama, Chalangal, Jasna, Chan, Allison, Chasapi, Anastasia I., Chatziefthimiou, Starr, Chaudhuri, Sreya Ray, Chavan, Akash Keluth, Chavez, Francisco, Chem, Gregory, Chen, Xiaoqing, Chen, Michelle, Chen, Jenn-Wei, Chernomoretz, Ariel, Chettouh, Allaeddine, Cheung, Daisy, Chicas, Diana, Chiu, Shirley, Choudhry, Hira, Chrispin, Carl, Ciaramella, Kianna, Cifuentes, Erika, Cohen, Jake, Coil, David A., Collin, Sylvie, Conger, Colleen, Conte, Romain, Corsi, Flavia, Cossio, Cecilia N., Costa, Ana F., Cuebas, Delisia, D’Alessandro, Bruno, Dahlhausen, Katherine E., Darling, Aaron E., Das, Pujita, Davenport, Lucinda B., David, Laurent, Davidson, Natalie R., Dayama, Gargi, Delmas, Stéphane, Deng, Chris K., Dequeker, Chloé, Desert, Alexandre, Devi, Monika, Dezem, Felipe S., Dias, Clara N., Donahoe, Timothy Ryan, Dorado, Sonia, Dorsey, LaShonda, Dotsenko, Valeriia, Du, Steven, Dutan, Alexandra, Eady, Naya, Eisen, Jonathan A., Elaskandrany, Miar, Epping, Lennard, Escalera-Antezana, Juan P., Ettinger, Cassie L., Faiz, Iqra, Fan, Luice, Farhat, Nadine, Faure, Emile, Fauzi, Fazlina, Feigin, Charlie, Felice, Skye, Ferreira, Laís Pereira, Figueroa, Gabriel, Fleiss, Aubin, Flores, Denisse, Velasco Flores, Jhovana L., Fonseca, Marcos A.S., Foox, Jonathan, Forero, Juan Carlos, Francis, Aaishah, French, Kelly, Fresia, Pablo, Friedman, Jacob, Fuentes, Jaime J., Galipon, Josephine, Garcia, Mathilde, Garcia, Laura, García, Catalina, Geiger, Annie, Gerner, Samuel M., Ghose, Sonia L., Giang, Dao Phuong, Giménez, Matías, Giovannelli, Donato, Githae, Dedan, Gkotzis, Spyridon, Godoy, Liliana, Goldman, Samantha, Gonnet, Gaston H., Gonzalez, Juana, Gonzalez, Andrea, Gonzalez-Poblete, Camila, Gray, Andrew, Gregory, Tranette, Greselle, Charlotte, Guasco, Sophie, Guerra, Juan, Gurianova, Nika, Haehr, Wolfgang, Halary, Sebastien, Hartkopf, Felix, Hastings, Jaden J.A., Hawkins-Zafarnia, Arya, Hazrin-Chong, Nur Hazlin, Helfrich, Eric, Hell, Eva, Henry, Tamera, Hernandez, Samuel, Hernandez, Pilar Lopez, Hess-Homeier, David, Hittle, Lauren E., Hoan, Nghiem Xuan, Holik, Aliaksei, Homma, Chiaki, Hoxie, Irene, Huber, Michael, Humphries, Elizabeth, Hyland, Stephanie, Hässig, Andrea, Häusler, Roland, Hüsser, Nathalie, Petit, Robert A., III, Iderzorig, Badamnyambuu, Igarashi, Mizuki, Iqbal, Shaikh B., Ishikawa, Shino, Ishizuka, Sakura, Islam, Sharah, Islam, Riham, Ito, Kohei, Ito, Sota, Ito, Takayuki, Ivankovic, Tomislav, Iwashiro, Tomoki, Jackson, Sarah, Jacobs, JoAnn, James, Marisano, Jaubert, Marianne, Jerier, Marie-Laure, Jiminez, Esmeralda, Jinfessa, Ayantu, De Jong, Ymke, Joo, Hyun Woo, Jospin, Guilllaume, Kajita, Takema, Ahmad Kassim, Affifah Saadah, Kato, Nao, Kaur, Amrit, Kaur, Inderjit, de Souza Gomes Kehdy, Fernanda, Khadka, Vedbar S., Khan, Shaira, Khavari, Mahshid, Ki, Michelle, Kim, Gina, Kim, Hyung Jun, Kim, Sangwan, King, Ryan J., Knights, Kaymisha, KoLoMonaco, Giuseppe, Koag, Ellen, Kobko-Litskevitch, Nadezhda, Korshevniuk, Maryna, Kozhar, Michael, Krebs, Jonas, Kubota, Nanami, Kuklin, Andrii, Kumar, Sheelta S., Kwong, Rachel, Kwong, Lawrence, Lafontaine, Ingrid, Lago, Juliana, Lai, Tsoi Ying, Laine, Elodie, Laiola, Manolo, Lakhneko, Olha, Lamba, Isha, de Lamotte, Gerardo, Lannes, Romain, De Lazzari, Eleonora, Leahy, Madeline, Lee, Hyunjung, Lee, Yunmi, Lee, Lucy, Lemaire, Vincent, Leong, Emily, Leung, Marcus H.Y., Lewandowska, Dagmara, Li, Chenhao, Liang, Weijun, Lin, Moses, Lisboa, Priscilla, Litskevitch, Anna, Liu, Eric Minwei, Liu, Tracy, Livia, Mayra Arauco, Lo, Yui Him, Losim, Sonia, Loubens, Manon, Lu, Jennifer, Lykhenko, Olexandr, Lysakova, Simona, Mahmoud, Salah, Majid, Sara Abdul, Makogon, Natalka, Maldonado, Denisse, Mallari, Krizzy, Malta, Tathiane M., Mamun, Maliha, Manoir, Dimitri, Marchandon, German, Marciniak, Natalia, Marinovic, Sonia, Marques, Brunna, Mathews, Nicole, Matsuzaki, Yuri, Matthys, Vincent, May, Madelyn, McComb, Elias, Meagher, Annabelle, Melamed, Adiell, Menary, Wayne, Mendez, Katterinne N., Mendez, Ambar, Mendy, Irène Mauricette, Meng, Irene, Menon, Ajay, Menor, Mark, Meoded, Roy, Merino, Nancy, Meydan, Cem, Miah, Karishma, Mignotte, Mathilde, Miketic, Tanja, Miranda, Wilson, Mitsios, Athena, Miura, Ryusei, Miyake, Kunihiko, Moccia, Maria D., Mohan, Natasha, Mohsin, Mohammed, Moitra, Karobi, Moldes, Mauricio, Molina, Laura, Molinet, Jennifer, Molomjamts, Orgil-Erdene, Moniruzzaman, Eftar, Moon, Sookwon, de Oliveira Moraes, Isabelle, Moreno, Mario, Mosella, Maritza S., Moser, Josef W., Mozsary, Christopher, Muehlbauer, Amanda L., Muner, Oasima, Munia, Muntaha, Munim, Naimah, Muscat, Maureen, Mustac, Tatjana, Muñoz, Cristina, Nadalin, Francesca, Naeem, Areeg, Nagy-Szakal, Dorottya, Nakagawa, Mayuko, Narce, Ashanti, Nasu, Masaki, Navarrete, Irene González, Naveed, Hiba, Nazario, Bryan, Nedunuri, Narasimha Rao, Neff, Thomas, Nesimi, Aida, Ng, Wan Chiew, Ng, Synti, Nguyen, Gloria, Ngwa, Elsy, Nicolas, Agier, Nicolas, Pierre, Nika, Abdollahi, Noorzi, Hosna, Nosrati, Avigdor, Noushmehr, Houtan, Nunes, Diana N., O’Brien, Kathryn, O’Hara, Niamh B., Oken, Gabriella, Olawoyin, Rantimi A., Oliete, Javier Quilez, Olmeda, Kiara, Oluwadare, Tolulope, Oluwadare, Itunu A., Ordioni, Nils, Orpilla, Jenessa, Orrego, Jacqueline, Ortega, Melissa, Osma, Princess, Osuolale, Israel O., Osuolale, Oluwatosin M., Ota, Mitsuki, Oteri, Francesco, Oto, Yuya, Ounit, Rachid, Ouzounis, Christos A., Pakrashi, Subhamitra, Paras, Rachel, Pardo-Este, Coral, Park, Young-Ja, Pastuszek, Paulina, Patel, Suraj, Pathmanathan, Jananan, Patrignani, Andrea, Perez, Manuel, Peros, Ante, Persaud, Sabrina, Peters, Anisia, Phillips, Adam, Pineda, Lisbeth, Pizzi, Melissa P., Plaku, Alma, Plaku, Alketa, Pompa-Hogan, Brianna, Portilla, María Gabriela, Posada, Leonardo, Priestman, Max, Prithiviraj, Bharath, Priya, Sambhawa, Pugdeethosal, Phanthira, Pugh, Catherine E., Pulatov, Benjamin, Pupiec, Angelika, Pyrshev, Kyrylo, Qing, Tao, Rahiel, Saher, Rahmatulloev, Savlatjon, Rajendran, Kannan, Ramcharan, Aneisa, Ramirez-Rojas, Adan, Rana, Shahryar, Ratnanandan, Prashanthi, Read, Timothy D., Rehrauer, Hubert, Richer, Renee, Rivera, Alexis, Rivera, Michelle, Robertiello, Alessandro, Robinson, Courtney, Rodríguez, Paula, Rojas, Nayra Aguilar, Roldán, Paul, Rosario, Anyelic, Roth, Sandra, Ruiz, Maria, Boja Ruiz, Stephen Eduard, Russell, Kaitlan, Rybak, Mariia, Sabedot, Thais S., Sabina, Mahfuza, Saito, Ikuto, Saito, Yoshitaka, Malca Salas, Gustavo Adolfo, Salazar, Cecilia, San, Kaung Myat, Sanchez, Jorge, Sanchir, Khaliun, Sankar, Ryan, de Souza Santos, Paulo Thiago, Saravi, Zulena, Sasaki, Kai, Sato, Yuma, Sato, Masaki, Sato, Seisuke, Sato, Ryo, Sato, Kaisei, Sayara, Nowshin, Schaaf, Steffen, Schacher, Oli, Schinke, Anna-Lena M., Schlapbach, Ralph, Schori, Christian, Schriml, Jason R., Segato, Felipe, Sepulveda, Felipe, Serpa, Marianna S., De Sessions, Paola F., Severyn, Juan C., Shaaban, Heba, Shakil, Maheen, Shalaby, Sarah, Shari, Aliyah, Shim, Hyenah, Shirahata, Hikaru, Shiwa, Yuh, Siam, Rania, Da Silva, Ophélie, Silva, Jordana M., Simon, Gwenola, Singh, Shaleni K., Sluzek, Kasia, Smith, Rebecca, So, Eunice, Andreu Somavilla, Núria, Sonohara, Yuya, Rufino de Sousa, Nuno, Souza, Camila, Sperry, Jason, Sprinsky, Nicolas, Stark, Stefan G., La Storia, Antonietta, Suganuma, Kiyoshi, Suliman, Hamood, Sullivan, Jill, Supie, Arif Asyraf Md, Suzuki, Chisato, Takagi, Sora, Takahara, Fumie, Takahashi, Naoya, Takahashi, Kou, Takeda, Tomoki, Takenaka, Isabella K., Tanaka, Soma, Tang, Anyi, Man Tang, Yuk, Tarcitano, Emilio, Tassinari, Andrea, Taye, Mahdi, Terrero, Alexis, Thambiraja, Eunice, Thiébaut, Antonin, Thomas, Sade, Thomas, Andrew M., Togashi, Yuto, Togashi, Takumi, Tomaselli, Anna, Tomita, Masaru, Tomita, Itsuki, Tong, Xinzhao, Toth, Oliver, Toussaint, Nora C., Tran, Jennifer M., Truong, Catalina, Tsonev, Stefan I., Tsuda, Kazutoshi, Tsurumaki, Takafumi, Tuz, Michelle, Tymoshenko, Yelyzaveta, Urgiles, Carmen, Usui, Mariko, Vacant, Sophie, Valentine, Brandon, Vann, Laura E., Velter, Fabienne, Ventorino, Valeria, Vera-Wolf, Patricia, Vicedomini, Riccardo, Suarez-Villamil, Michael A., Vincent, Sierra, Vivancos-Koopman, Renee, Wan, Andrew, Wang, Cindy, Warashina, Tomoro, Watanabe, Ayuki, Weekes, Samuel, Werner, Johannes, Westfall, David, Wieler, Lothar H., Williams, Michelle, Wolf, Silver A., Wong, Brian, Wong, Yan Ling, Wong, Tyler, Wright, Rasheena, Wunderlin, Tina, Yamanaka, Ryota, Yang, Jingcheng, Yano, Hirokazu, Yeh, George C., Yemets, Olena, Yeskova, Tetiana, Yoshikawa, Shusei, Zafar, Laraib, Zhang, Yang, Zhang, Shu, Zhang, Amy, Zheng, Yuanting, Zubenko, Stas, Danko, David, Bezdan, Daniela, Afshin, Evan E., Ahsanuddin, Sofia, Bhattacharya, Chandrima, Butler, Daniel J., Chng, Kern Rei, Donnellan, Daisy, Hecht, Jochen, Jackson, Katelyn, Kuchin, Katerina, Karasikov, Mikhail, Lyons, Abigail, Mak, Lauren, Meleshko, Dmitry, Mustafa, Harun, Mutai, Beth, Neches, Russell Y., Ng, Amanda, Nikolayeva, Olga, Nikolayeva, Tatyana, Png, Eileen, Ryon, Krista A., Sanchez, Jorge L., Sierra, Maria A., Thomas, Dominique, Young, Ben, Abudayyeh, Omar O., Alicea, Josue, Bhattacharyya, Malay, Blekhman, Ran, Castro-Nallar, Eduardo, Cañas, Ana M., Chatziefthimiou, Aspassia D., Crawford, Robert W., De Filippis, Francesca, Deng, Youping, Desnues, Christelle, Dias-Neto, Emmanuel, Dybwad, Marius, Elhaik, Eran, Ercolini, Danilo, Frolova, Alina, Gankin, Dennis, Gootenberg, Jonathan S., Graf, Alexandra B., Green, David C., Hajirasouliha, Iman, Hernandez, Mark, Iraola, Gregorio, Jang, Soojin, Kahles, Andre, Kelly, Frank J., Kyrpides, Nikos C., Łabaj, Paweł P., Lee, Patrick K.H., Ljungdahl, Per O., Mason-Buck, Gabriella, McGrath, Ken, Mongodin, Emmanuel F., Moraes, Milton Ozorio, Nagarajan, Niranjan, Nieto-Caballero, Marina, Oliveira, Manuela, Ossowski, Stephan, Osuolale, Olayinka O., Özcan, Orhan, Paez-Espino, David, Rascovan, Nicolás, Richard, Hugues, Rätsch, Gunnar, Schriml, Lynn M., Semmler, Torsten, Sezerman, Osman U., Shi, Leming, Shi, Tieliu, Song, Le Huu, Suzuki, Haruo, Court, Denise Syndercombe, Tighe, Scott W., Udekwu, Klas I., Ugalde, Juan A., Vassilev, Dimitar I., Vayndorf, Elena M., Velavan, Thirumalaisamy P., Wu, Jun, Zambrano, María M., Zhu, Jifeng, Zhu, Sibo, Mason, Christopher E.

Source: In Cell 24 June 2021 184(13):3376-3393

Using paired-end read orientations to assess technical biases in capture Hi-C.

Authors: Hansen, Peter, Blau, Hannah, Hecht, Jochen, Karlebach, Guy, Krannich, Alexander, Steinhaus, Robin, Truss, Matthias, Robinson, Peter N

Source: NAR Genomics & Bioinformatics; Dec2024, Vol. 6 Issue 4, p1-19, 19p

Increased presence and differential molecular imprinting of transit amplifying cells in psoriasis

Authors: Witte, Katrin, Jürchott, Karsten, Christou, Demetrios, Hecht, Jochen, Salinas, Gabriela, Krüger, Ulrike, Klein, Oliver, Kokolakis, Georgios, Witte-Händel, Ellen, Mössner, Rotraut, Volk, Hans-Dieter, Wolk, Kerstin, Sabat, Robert

Source: Journal of molecular medicine. 98(1):111-122

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100124127798.0x000001&indx=1&recIds=ETOCvdc_100124127798.0x000001

PAX5 biallelic genomic alterations define a novel subgroup of B-cell precursor acute lymphoblastic leukemia

Authors: Bastian, Lorenz, Schroeder, Michael, Eckert, Cornelia, Schlee, Cornelia, Tanchez, Jutta, Kämpf, Sebastian, Wagner, Dimitrios, Schulze, Veronika, Isaakidis, Konstandina, Lázaro-Navarro, Juan, Hänzelmann, Sonja, James, Alva, Ekici, Arif, Burmeister, Thomas, Schwartz, Stefan, Schrappe, Martin, Horstmann, Martin, Vosberg, Sebastian, Krebs, Stefan, Blum, Helmut, Hecht, Jochen, Greif, Philipp, Rieger, Michael, Brüggemann, Monika, Gökbuget, Nicola, Neumann, Martin, Baldus, Claudia

Source: Leukemia. 33(8):1895-1909

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100189201630.0x000001&indx=1&recIds=ETOCvdc_100189201630.0x000001

GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution

Authors: Hansen, Peter, Ali, Salaheddine, Blau, Hannah, Danis, Daniel, Hecht, Jochen, Kornak, Uwe, Lupiáñez, Darío, Mundlos, Stefan, Steinhaus, Robin, Robinson, Peter

Source: BMC genomics. 20(1):1-13

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185474795.0x000001&indx=1&recIds=ETOCvdc_100185474795.0x000001

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta

Authors: Mrosk, Julia, Bhavani, Gandham SriLakshmi, Shah, Hitesh, Hecht, Jochen, Krüger, Ulrike, Shukla, Anju, Kornak, Uwe, Girisha, Katta Mohan

Source: Bone. 110:368-377

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100078051076.0x000001&indx=1&recIds=ETOCvdc_100078051076.0x000001

Citizen science charts two major 'stomatotypes' in the oral microbiome of adolescents and reveals links with habits and drinking water composition

Authors: Willis, Jesse, González-Torres, Pedro, Pittis, Alexandros, Bejarano, Luis, Cozzuto, Luca, Andreu-Somavilla, Nuria, Alloza-Trabado, Miriam, Valentín, Antonia, Ksiezopolska, Ewa, Company, Carlos, Onywera, Harris, Montfort, Magda, Hermoso, Antonio, Iraola-Guzmán, Susana, Saus, Ester, Labeeuw, Annick, Carolis, Carlo, Hecht, Jochen, Ponomarenko, Julia, Gabaldón, Toni

Source: Microbiome. 6(1):1-17

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185346084.0x000001&indx=1&recIds=ETOCvdc_100185346084.0x000001

Key features and clinical variability of COG6-CDG

Authors: Rymen, Daisy, Winter, Julia, Van Hasselt, Peter M., Jaeken, Jaak, Kasapkara, Cigdem, Gokçay, Gulden, Haijes, Hanneke, Goyens, Philippe, Tokatli, Aysegul, Thiel, Christian, Bartsch, Oliver, Hecht, Jochen, Krawitz, Peter, Prinsen, Hubertus C.M.T., Mildenberger, Eva, Matthijs, Gert, Kornak, Uwe

Source: In Molecular Genetics and Metabolism November 2015 116(3):163-170

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

Authors: Lupiáñez, Darío G., Kraft, Katerina, Heinrich, Verena, Krawitz, Peter, Brancati, Francesco, Klopocki, Eva, Horn, Denise, Kayserili, Hülya, Opitz, John M., Laxova, Renata, Santos-Simarro, Fernando, Gilbert-Dussardier, Brigitte, Wittler, Lars, Borschiwer, Marina, Haas, Stefan A., Osterwalder, Marco, Franke, Martin, Timmermann, Bernd, Hecht, Jochen, Spielmann, Malte, Visel, Axel, Mundlos, Stefan

Source: In Cell 21 May 2015 161(5):1012-1025

Citizen-science based study of the oral microbiome in Cystic fibrosis and matched controls reveals major differences in diversity and abundance of bacterial and fungal species

Authors: Willis, Jesse R., Saus, Ester, Iraola-Guzmán, Susana, Cabello-Yeves, Elena, Ksiezopolska, Ewa, Cozzuto, Luca, Bejarano, Luis A., Andreu-Somavilla, Nuria, Alloza-Trabado, Miriam, Blanco, Andrea, Puig-Sola, Anna, Broglio, Elisabetta, Carolis, Carlo, Ponomarenko, Julia, Hecht, Jochen, Gabaldón, Toni

Source: Journal of oral microbiology. 13(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100139858262.0x000001&indx=1&recIds=ETOCvdc_100139858262.0x000001

Oral microbiome in down syndrome and its implications on oral health

Authors: Willis, Jesse R., Iraola-Guzmán, Susana, Saus, Ester, Ksiezopolska, Ewa, Cozzuto, Luca, Bejarano, Luis A., Andreu-Somavilla, Nuria, Alloza-Trabado, Miriam, Puig-Sola, Anna, Blanco, Andrea, Broglio, Elisabetta, Carolis, Carlo, Hecht, Jochen, Ponomarenko, Julia, Gabaldón, Toni

Source: Journal of oral microbiology. 13(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100139858211.0x000001&indx=1&recIds=ETOCvdc_100139858211.0x000001

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

Authors: Ehmke, Nadja, Graul-Neumann, Luitgard, Smorag, Lukasz, Koenig, Rainer, Segebrecht, Lara, Magoulas, Pilar, Scaglia, Fernando, Kilic, Esra, Hennig, Anna F., Adolphs, Nicolai, Saha, Namrata, Fauler, Beatrix, Kalscheuer, Vera M., Hennig, Friederike, Altmüller, Janine, Netzer, Christian, Thiele, Holger, Nürnberg, Peter, Yigit, Gökhan, Jäger, Marten, Hecht, Jochen, Krüger, Ulrike, Mielke, Thorsten, Krawitz, Peter M., Horn, Denise, Schuelke, Markus, Mundlos, Stefan, Bacino, Carlos A., Bonnen, Penelope E., Wollnik, Bernd, Fischer-Zirnsak, Björn, Kornak, Uwe

Source: American journal of human genetics. 101(5):833-843

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100053357767.0x000001&indx=1&recIds=ETOCvdc_100053357767.0x000001

The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies

Authors: Trubicka, Joanna, Żemojtel, Tomasz, Hecht, Jochen, Falana, Katarzyna, Piekutowska- Abramczuk, Dorota, Płoski, Rafał, Perek-Polnik, Marta, Drogosiewicz, Monika, Grajkowska, Wiesława, Ciara, Elżbieta, Moszczyńska, Elżbieta, Dembowska-Bagińska, Bożenna, Perek, Danuta, Chrzanowska, Krystyna, Krajewska-Walasek, Małgorzata, Łastowska, Maria

Source: BMC cancer. 17(1):1-11

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125073879.0x000001&indx=1&recIds=ETOCvdc_100125073879.0x000001

Mutations in WNT1 Cause Different Forms of Bone Fragility

Authors: Keupp, Katharina, Beleggia, Filippo, Kayserili, Hülya, Barnes, Aileen M., Steiner, Magdalena, Semler, Oliver, Fischer, Björn, Yigit, Gökhan, Janda, Claudia Y., Becker, Jutta, Breer, Stefan, Altunoglu, Umut, Grünhagen, Johannes, Krawitz, Peter, Hecht, Jochen, Schinke, Thorsten, Makareeva, Elena, Lausch, Ekkehart, Cankaya, Tufan, Caparrós-Martín, José A., Lapunzina, Pablo, Temtamy, Samia, Aglan, Mona, Zabel, Bernhard, Eysel, Peer, Koerber, Friederike, Leikin, Sergey, Garcia, K. Christopher, Netzer, Christian, Schönau, Eckhard, Ruiz-Perez, Victor L., Mundlos, Stefan, Amling, Michael, Kornak, Uwe, Marini, Joan, Wollnik, Bernd

Source: In The American Journal of Human Genetics 4 April 2013 92(4):565-574

Seroprevalence of antibodies against SARS-CoV-2 among health care workers in a large Spanish reference hospital

Authors: Garcia-Basteiro, Alberto L., Moncunill, Gemma, Tortajada, Marta, Vidal, Marta, Guinovart, Caterina, Jiménez, Alfons, Santano, Rebeca, Sanz, Sergi, Méndez, Susana, Llupià, Anna, Aguilar, Ruth, Alonso, Selena, Barrios, Diana, Carolis, Carlo, Cisteró, Pau, Chóliz, Eugenia, Cruz, Angeline, Fochs, Silvia, Jairoce, Chenjerai, Hecht, Jochen, Lamoglia, Montserrat, Martínez, Mikel J., Mitchell, Robert A., Ortega, Natalia, Pey, Nuria, Puyol, Laura, Ribes, Marta, Rosell, Neus, Sotomayor, Patricia, Torres, Sara, Williams, Sarah, Barroso, Sonia, Vilella, Anna, Muñoz, José, Trilla, Antoni, Varela, Pilar, Mayor, Alfredo, Dobaño, Carlota

Source: Nature communications. 11(1)

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Saturation analysis of ChIP-seq data for reproducible identification of binding peaks

Authors: Hansen, Peter, Hecht, Jochen, Ibrahim, Daniel M., Krannich, Alexander, Truss, Matthias, Robinson, Peter N.

Source: Genome research. 25(9):1391-1400

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN602740314&indx=1&recIds=ETOCRN602740314

Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus

Authors: Spielmann, Malte, Brancati, Francesco, Krawitz, Peter M., Robinson, Peter N., Ibrahim, Daniel M., Franke, Martin, Hecht, Jochen, Lohan, Silke, Dathe, Katarina, Nardone, Anna Maria, Ferrari, Paola, Landi, Antonio, Wittler, Lars, Timmermann, Bernd, Chan, Danny, Mennen, Ulrich, Klopocki, Eva, Mundlos, Stefan

Source: In The American Journal of Human Genetics 5 October 2012 91(4):629-635