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Clinical profile, atrophy and inheritance patterns of pathogenic MAPT gene mutations in Frontotemporal dementia detected using whole exome sequencing: a single-center first report from India
Ramakrishnan, Subasree, Arshad, Faheem, Keerthana, B. S., Bosco, Susan, Gokul Pon, Arun, Ganaraja, V. H., Madhusudhan, Deekshitha, Mahima, R., Arunachal, Gautham, Kulanthaivelu, Karthick, Alladi, Suvarna
Published in BMC neurology (27.08.2025)
Published in BMC neurology (27.08.2025)
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AB0013 HLA ASSOCIATION WITH SYSTEMIC SCLEROSIS (SSc) IN NORTH INDIAN POPULATION AND FAMILIAL INHERITANCE PATTERNS
Machhua, S., Minz, R., Sharma, S. K., Singh, H., Kumar, Y., Anand, S., Handa, S., Singh, S.
Published in Annals of the rheumatic diseases (01.06.2020)
Published in Annals of the rheumatic diseases (01.06.2020)
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Meta-analysis of telomere length in 19 713 subjects reveals high heritability, stronger maternal inheritance and a paternal age effect
Broer, Linda, Codd, Veryan, Nyholt, Dale R, Deelen, Joris, Mangino, Massimo, Willemsen, Gonneke, Albrecht, Eva, Amin, Najaf, Beekman, Marian, de Geus, Eco J C, Henders, Anjali, Nelson, Christopher P, Steves, Claire J, Wright, Margie J, de Craen, Anton J M, Isaacs, Aaron, Matthews, Mary, Moayyeri, Alireza, Montgomery, Grant W, Oostra, Ben A, Vink, Jacqueline M, Spector, Tim D, Slagboom, P Eline, Martin, Nicholas G, Samani, Nilesh J, van Duijn, Cornelia M, Boomsma, Dorret I
Published in European journal of human genetics : EJHG (01.10.2013)
Published in European journal of human genetics : EJHG (01.10.2013)
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Neonatal DNA methylation profile in human twins is specified by a complex interplay between intrauterine environmental and genetic factors, subject to tissue-specific influence
Gordon, Lavinia, Joo, Jihoon E., Powell, Joseph E., Ollikainen, Miina, Novakovic, Boris, Li, Xin, Andronikos, Roberta, Cruickshank, Mark N., Conneely, Karen N., Smith, Alicia K., Alisch, Reid S., Morley, Ruth, Visscher, Peter M., Craig, Jeffrey M., Saffery, Richard
Published in Genome research (01.08.2012)
Published in Genome research (01.08.2012)
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Transgenerational inheritance of acquired epigenetic signatures at CpG islands in mice
Takahashi, Yuta, Morales Valencia, Mariana, Yu, Yang, Ouchi, Yasuo, Takahashi, Kazuki, Shokhirev, Maxim Nikolaievich, Lande, Kathryn, Williams, April E., Fresia, Chiara, Kurita, Masakazu, Hishida, Tomoaki, Shojima, Kensaku, Hatanaka, Fumiyuki, Nuñez-Delicado, Estrella, Esteban, Concepcion Rodriguez, Izpisua Belmonte, Juan Carlos
Published in Cell (16.02.2023)
Published in Cell (16.02.2023)
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Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility
Patsopoulos, Nikolaos A., Baranzini, Sergio E., Santaniello, Adam, Shoostari, Parisa, Cotsapas, Chris, Wong, Garrett, Beecham, Ashley H., James, Tojo, Replogle, Joseph, Vlachos, Ioannis S., McCabe, Cristin, Pers, Tune H., Brandes, Aaron, White, Charles, Keenan, Brendan, Cimpean, Maria, Winn, Phoebe, Panteliadis, Ioannis-Pavlos, Robbins, Allison, Andlauer, Till F. M., Zarzycki, Onigiusz, Dubois, Bénédicte, Goris, An, Søndergaard, Helle Bach, Sellebjerg, Finn, Sorensen, Per Soelberg, Ullum, Henrik, Thørner, Lise Wegner, Saarela, Janna, Cournu-Rebeix, Isabelle, Damotte, Vincent, Fontaine, Bertrand, Guillot-Noel, Lena, Lathrop, Mark, Vukusic, Sandra, Berthele, Achim, Pongratz, Viola, Buck, Dorothea, Gasperi, Christiane, Graetz, Christiane, Grummel, Verena, Hemmer, Bernhard, Hoshi, Muni, Knier, Benjamin, Korn, Thomas, Lill, Christina M., Luessi, Felix, Mühlau, Mark, Zipp, Frauke, Dardiotis, Efthimios, Agliardi, Cristina, Amoroso, Antonio, Barizzone, Nadia, Benedetti, Maria D., Bernardinelli, Luisa, Cavalla, Paola, Clarelli, Ferdinando, Comi, Giancarlo, Cusi, Daniele, Esposito, Federica, Ferrè, Laura, Galimberti, Daniela, Guaschino, Clara, Leone, Maurizio A., Martinelli, Vittorio, Moiola, Lucia, Salvetti, Marco, Sorosina, Melissa, Vecchio, Domizia, Zauli, Andrea, Santoro, Silvia, Mancini, Nicasio, Zuccalà, Miriam, Mescheriakova, Julia, van Duijn, Cornelia, Bos, Steffan D., Celius, Elisabeth G., Spurkland, Anne, Comabella, Manuel, Montalban, Xavier, Alfredsson, Lars, Bomfim, Izaura L., Gomez-Cabrero, David, Hillert, Jan, Jagodic, Maja, Lindén, Magdalena, Piehl, Fredrik, Jelčić, Ilijas, Martin, Roland, Sospedra, Mirela, Baker, Amie, Ban, Maria, Hawkins, Clive, Hysi, Pirro, Kalra, Seema, Karpe, Fredrik, Khadake, Jyoti, Lachance, Genevieve, Molyneux, Paul, Neville, Matthew
Published in Science (American Association for the Advancement of Science) (27.09.2019)
Published in Science (American Association for the Advancement of Science) (27.09.2019)
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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
Walters, R. G., Jacquemont, S., Valsesia, A., de Smith, A. J., Martinet, D., Andersson, J., Falchi, M., Chen, F., Andrieux, J., Lobbens, S., Delobel, B., Stutzmann, F., El-Sayed Moustafa, J. S., Chèvre, J.-C., Lecoeur, C., Vatin, V., Bouquillon, S., Buxton, J. L., Boute, O., Holder-Espinasse, M., Cuisset, J.-M., Lemaitre, M.-P., Ambresin, A.-E., Brioschi, A., Gaillard, M., Giusti, V., Fellmann, F., Ferrarini, A., Hadjikhani, N., Campion, D., Guilmatre, A., Goldenberg, A., Calmels, N., Mandel, J.-L., Le Caignec, C., David, A., Isidor, B., Cordier, M.-P., Dupuis-Girod, S., Labalme, A., Sanlaville, D., Béri-Dexheimer, M., Jonveaux, P., Leheup, B., Õunap, K., Bochukova, E. G., Henning, E., Keogh, J., Ellis, R. J., MacDermot, K. D., van Haelst, M. M., Vincent-Delorme, C., Plessis, G., Touraine, R., Philippe, A., Malan, V., Mathieu-Dramard, M., Chiesa, J., Blaumeiser, B., Kooy, R. F., Caiazzo, R., Pigeyre, M., Balkau, B., Sladek, R., Bergmann, S., Mooser, V., Waterworth, D., Reymond, A., Vollenweider, P., Waeber, G., Kurg, A., Palta, P., Esko, T., Metspalu, A., Nelis, M., Elliott, P., Hartikainen, A.-L., McCarthy, M. I., Peltonen, L., Carlsson, L., Jacobson, P., Sjöström, L., Huang, N., Hurles, M. E., O’Rahilly, S., Farooqi, I. S., Männik, K., Jarvelin, M.-R., Pattou, F., Meyre, D., Walley, A. J., Coin, L. J. M., Blakemore, A. I. F., Froguel, P., Beckmann, J. S.
Published in Nature (London) (04.02.2010)
Published in Nature (London) (04.02.2010)
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Genetic and environmental influences interact with age and sex in shaping the human methylome
van Dongen, Jenny, Nivard, Michel G., Willemsen, Gonneke, Hottenga, Jouke-Jan, Helmer, Quinta, Dolan, Conor V., Ehli, Erik A., Davies, Gareth E., van Iterson, Maarten, Breeze, Charles E., Beck, Stephan, Suchiman, H. Eka, Jansen, Rick, van Meurs, Joyce B., Heijmans, Bastiaan T., Slagboom, P. Eline, Boomsma, Dorret I.
Published in Nature communications (07.04.2016)
Published in Nature communications (07.04.2016)
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Heritability and genomics of gene expression in peripheral blood
Wright, Fred A, Sullivan, Patrick F, Brooks, Andrew I, Zou, Fei, Sun, Wei, Xia, Kai, Madar, Vered, Jansen, Rick, Chung, Wonil, Zhou, Yi-Hui, Abdellaoui, Abdel, Batista, Sandra, Butler, Casey, Chen, Guanhua, Chen, Ting-Huei, D'Ambrosio, David, Gallins, Paul, Ha, Min Jin, Hottenga, Jouke Jan, Huang, Shunping, Kattenberg, Mathijs, Kochar, Jaspreet, Middeldorp, Christel M, Qu, Ani, Shabalin, Andrey, Tischfield, Jay, Todd, Laura, Tzeng, Jung-Ying, van Grootheest, Gerard, Vink, Jacqueline M, Wang, Qi, Wang, Wei, Wang, Weibo, Willemsen, Gonneke, Smit, Johannes H, de Geus, Eco J, Yin, Zhaoyu, Penninx, Brenda W J H, Boomsma, Dorret I
Published in Nature genetics (01.05.2014)
Published in Nature genetics (01.05.2014)
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Genome-Wide Analysis of Copy Number Variants in Attention Deficit Hyperactivity Disorder: The Role of Rare Variants and Duplications at 15q13.3
Williams, Nigel M., Franke, Barbara, Mick, Eric, Anney, Richard J.L., Freitag, Christine M., Gill, Michael, Thapar, Anita, O'Donovan, Michael C., Owen, Michael J., Holmans, Peter, Kent, Lindsey, Middleton, Frank, Zhang-James, Yanli, Liu, Lu, Meyer, Jobst, Nguyen, Thuy Trang, Romanos, Jasmin, Romanos, Marcel, Seitz, Christiane, Renner, Tobias J., Walitza, Susanne, Warnke, Andreas, Palmason, Haukur, Buitelaar, Jan, Rommelse, Nanda, Vasquez, Alejandro Arias, Hawi, Ziarih, Langley, Kate, Sergeant, Joseph, Steinhausen, Hans-Christoph, Roeyers, Herbert, Biederman, Joseph, Zaharieva, Irina, Hakonarson, Hakon, Elia, Josephine, Lionel, Anath C., Crosbie, Jennifer, Marshall, Christian R., Schachar, Russell, Scherer, Stephen W., Todorov, Alexandre, Smalley, Susan L., Loo, Sandra, Nelson, Stanley, Shtir, Corina, Asherson, Philip, Reif, Andreas, Lesch, Klaus-Peter, Faraone, Stephen V.
Published in The American journal of psychiatry (01.02.2012)
Published in The American journal of psychiatry (01.02.2012)
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MT‐ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases
Ganetzky, Rebecca D., Stendel, Claudia, McCormick, Elizabeth M., Zolkipli‐Cunningham, Zarazuela, Goldstein, Amy C., Klopstock, Thomas, Falk, Marni J.
Published in Human mutation (01.05.2019)
Published in Human mutation (01.05.2019)
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Transposons, environmental changes, and heritable induced phenotypic variability
Piacentini, Lucia, Fanti, Laura, Specchia, Valeria, Bozzetti, Maria Pia, Berloco, Maria, Palumbo, Gino, Pimpinelli, Sergio
Published in Chromosoma (01.08.2014)
Published in Chromosoma (01.08.2014)
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Investigating the Contribution of Common Genetic Variants to the Risk and Pathogenesis of ADHD
Stergiakouli, Evangelia, Hamshere, Marian, Holmans, Peter, Langley, Kate, Zaharieva, Irina, Hawi, Ziarah, Kent, Lindsey, Gill, Michael, Williams, Nigel, Owen, Michael J., O'Donovan, Michael, Thapar, Anita
Published in The American journal of psychiatry (01.02.2012)
Published in The American journal of psychiatry (01.02.2012)
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Family History in Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA) Syndrome
Manthiram, Kalpana, Nesbitt, Emily, Morgan, Thomas, Edwards, Kathryn M
Published in Pediatrics (Evanston) (01.09.2016)
Published in Pediatrics (Evanston) (01.09.2016)
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Outcomes of hematopoietic cell transplantation using donors or recipients with inherited chromosomally integrated HHV-6
Hill, Joshua A., Magaret, Amalia S., Hall-Sedlak, Ruth, Mikhaylova, Anna, Huang, Meei-Li, Sandmaier, Brenda M., Hansen, John A., Jerome, Keith R., Zerr, Danielle M., Boeckh, Michael
Published in Blood (24.08.2017)
Published in Blood (24.08.2017)
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