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Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
Gräf, Stefan, Haimel, Matthias, Bleda, Marta, Hadinnapola, Charaka, Southgate, Laura, Li, Wei, Hodgson, Joshua, Liu, Bin, Salmon, Richard M., Southwood, Mark, Machado, Rajiv D., Martin, Jennifer M., Treacy, Carmen M., Yates, Katherine, Daugherty, Louise C., Shamardina, Olga, Whitehorn, Deborah, Holden, Simon, Aldred, Micheala, Bogaard, Harm J., Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A., Danesino, Cesare, Eyries, Mélanie, Gall, Henning, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, J. Simon R., Girerd, Barbara, Houweling, Arjan C., Howard, Luke, Humbert, Marc, Kiely, David G., Kovacs, Gabor, MacKenzie Ross, Robert V., Moledina, Shahin, Montani, David, Newnham, Michael, Olschewski, Andrea, Olschewski, Horst, Peacock, Andrew J., Pepke-Zaba, Joanna, Prokopenko, Inga, Rhodes, Christopher J., Scelsi, Laura, Seeger, Werner, Soubrier, Florent, Stein, Dan F., Suntharalingam, Jay, Swietlik, Emilia M., Toshner, Mark R., van Heel, David A., Vonk Noordegraaf, Anton, Waisfisz, Quinten, Wharton, John, Wort, Stephen J., Ouwehand, Willem H., Soranzo, Nicole, Lawrie, Allan, Upton, Paul D., Wilkins, Martin R., Trembath, Richard C., Morrell, Nicholas W.
Published in Nature communications (12.04.2018)
Published in Nature communications (12.04.2018)
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A genetic study of Wilson’s disease in the United Kingdom
Coffey, Alison J., Durkie, Miranda, Hague, Stephen, McLay, Kirsten, Emmerson, Jennifer, Lo, Christine, Klaffke, Stefanie, Joyce, Christopher J., Dhawan, Anil, Hadzic, Nedim, Mieli-Vergani, Giorgina, Kirk, Richard, Elizabeth Allen, K., Nicholl, David, Wong, Siew, Griffiths, William, Smithson, Sarah, Giffin, Nicola, Taha, Ali, Connolly, Sally, Gillett, Godfrey T., Tanner, Stuart, Bonham, Jim, Sharrack, Basil, Palotie, Aarno, Rattray, Magnus, Dalton, Ann, Bandmann, Oliver
Published in Brain (London, England : 1878) (01.05.2013)
Published in Brain (London, England : 1878) (01.05.2013)
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PRICKLE3 linked to ATPase biogenesis manifested Leber’s hereditary optic neuropathy
Yu, Jialing, Liang, Xiaoyang, Ji, Yanchun, Ai, Cheng, Liu, Junxia, Zhu, Ling, Nie, Zhipeng, Jin, Xiaofen, Wang, Chenghui, Zhang, Juanjuan, Zhao, Fuxin, Mei, Shuang, Zhao, Xiaoxu, Zhou, Xiangtian, Zhang, Minglian, Wang, Meng, Huang, Taosheng, Jiang, Pingping, Guan, Min-Xin
Published in The Journal of clinical investigation (01.09.2020)
Published in The Journal of clinical investigation (01.09.2020)
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Lessons learned from additional research analyses of unsolved clinical exome cases
Eldomery, Mohammad K., Coban-Akdemir, Zeynep, Harel, Tamar, Rosenfeld, Jill A., Gambin, Tomasz, Stray-Pedersen, Asbjørg, Küry, Sébastien, Mercier, Sandra, Lessel, Davor, Denecke, Jonas, Wiszniewski, Wojciech, Penney, Samantha, Liu, Pengfei, Bi, Weimin, Lalani, Seema R., Schaaf, Christian P., Wangler, Michael F., Bacino, Carlos A., Lewis, Richard Alan, Potocki, Lorraine, Graham, Brett H., Belmont, John W., Scaglia, Fernando, Orange, Jordan S., Jhangiani, Shalini N., Chiang, Theodore, Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Xia, Fan, Beaudet, Arthur L., Boerwinkle, Eric, Eng, Christine M., Plon, Sharon E., Sutton, V. Reid, Gibbs, Richard A., Posey, Jennifer E., Yang, Yaping, Lupski, James R.
Published in Genome medicine (21.03.2017)
Published in Genome medicine (21.03.2017)
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Importance of RNF213 polymorphism on clinical features and long-term outcome in moyamoya disease
Kim, Eun-Hee, Yum, Mi-Sun, Ra, Young-Shin, Park, Jun Bum, Ahn, Jae Sung, Kim, Gu-Hwan, Goo, Hyun Woo, Ko, Tae-Sung, Yoo, Han-Wook
Published in Journal of neurosurgery (01.05.2016)
Published in Journal of neurosurgery (01.05.2016)
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The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles
Boone, Philip M., Yuan, Bo, Campbell, Ian M., Scull, Jennifer C., Withers, Marjorie A., Baggett, Brett C., Beck, Christine R., Shaw, Christine J., Stankiewicz, Pawel, Moretti, Paolo, Goodwin, Wendy E., Hein, Nichole, Fink, John K., Seong, Moon-Woo, Seo, Soo Hyun, Park, Sung Sup, Karbassi, Izabela D., Batish, Sat Dev, Ordóñez-Ugalde, Andrés, Quintáns, Beatriz, Sobrido, María-Jesús, Stemmler, Susanne, Lupski, James R.
Published in American journal of human genetics (07.08.2014)
Published in American journal of human genetics (07.08.2014)
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Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery
Parry, Susan, Win, Aung Ko, Parry, Bryan, Macrae, Finlay A, Gurrin, Lyle C, Church, James M, Baron, John A, Giles, Graham G, Leggett, Barbara A, Winship, Ingrid, Lipton, Lara, Young, Graeme P, Young, Joanne P, Lodge, Caroline J, Southey, Melissa C, Newcomb, Polly A, Le Marchand, Loïc, Haile, Robert W, Lindor, Noralane M, Gallinger, Steven, Hopper, John L, Jenkins, Mark A
Published in Gut (01.07.2011)
Published in Gut (01.07.2011)
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Lower Circulating Folate Induced by a Fidgetin Intronic Variant is Associated with Reduced Congenital Heart Disease Susceptibility
Wang, Dan, Wang, Feng, Shi, Kai-Hu, Tao, Hui, Li, Yang, Zhao, Rui, Lu, Han, Duan, Wenyuan, Qiao, Bin, Zhao, Shi-Min, Wang, Hongyan, Zhao, Jian-Yuan
Published in Circulation (New York, N.Y.) (02.05.2017)
Published in Circulation (New York, N.Y.) (02.05.2017)
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Copper Imbalance in Alzheimer’s Disease: Meta-Analysis of Serum, Plasma, and Brain Specimens, and Replication Study Evaluating ATP7B Gene Variants
Squitti, Rosanna, Ventriglia, Mariacarla, Simonelli, Ilaria, Bonvicini, Cristian, Costa, Alfredo, Perini, Giulia, Binetti, Giuliano, Benussi, Luisa, Ghidoni, Roberta, Koch, Giacomo, Borroni, Barbara, Albanese, Alberto, Sensi, Stefano L., Rongioletti, Mauro
Published in Biomolecules (Basel, Switzerland) (29.06.2021)
Published in Biomolecules (Basel, Switzerland) (29.06.2021)
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Role of Cdc48/p97 as a SUMO-targeted segregase curbing Rad51–Rad52 interaction
Bergink, Steven, Ammon, Tim, Kern, Maximilian, Schermelleh, Lothar, Leonhardt, Heinrich, Jentsch, Stefan
Published in Nature cell biology (01.05.2013)
Published in Nature cell biology (01.05.2013)
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Pitfalls in the Diagnosis of Wilson Disease
Roy, Debasish, Mukherjee, Angshuman, Chakravarty, Ambar
Published in Current neurology and neuroscience reports (01.12.2025)
Published in Current neurology and neuroscience reports (01.12.2025)
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Characterization of a novel ABCC2 mutation in infantile Dubin Johnson syndrome
Khabou, Boudour, Hsairi, Manel, Gargouri, Lamia, Miled, Nabil, Barbu, Véronique, Fakhfakh, Faiza
Published in Clinica chimica acta (01.07.2021)
Published in Clinica chimica acta (01.07.2021)
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Inhibition of ATP hydrolysis restores airway surface liquid production in cystic fibrosis airway epithelia
van Heusden, Catharina, Button, Brian, Anderson, Wayne H., Ceppe, Agathe, Morton, Lisa C., O’Neal, Wanda K., Dang, Hong, Alexis, Neil E., Donaldson, Scott, Stephan, Holger, Boucher, Richard C., Lazarowski, Eduardo R.
Published in American journal of physiology. Lung cellular and molecular physiology (01.02.2020)
Published in American journal of physiology. Lung cellular and molecular physiology (01.02.2020)
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Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis
Hongo, Hiroki, Miyawaki, Satoru, Imai, Hideaki, Shimizu, Masahiro, Yagi, Shinichi, Mitsui, Jun, Ishiura, Hiroyuki, Yoshimura, Jun, Doi, Koichiro, Qu, Wei, Teranishi, Yu, Okano, Atsushi, Ono, Hideaki, Nakatomi, Hirofumi, Shimizu, Tsuneo, Morishita, Shinichi, Tsuji, Shoji, Saito, Nobuhito
Published in Scientific reports (20.07.2020)
Published in Scientific reports (20.07.2020)
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Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia
Mehta, SG, Khare, M, Ramani, R, Watts, GDJ, Simon, M, Osann, KE, Donkervoort, S, Dec, E, Nalbandian, A, Platt, J, Pasquali, M, Wang, A, Mozaffar, T, Smith, CD, Kimonis, VE
Published in Clinical genetics (01.05.2013)
Published in Clinical genetics (01.05.2013)
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RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients
Kobayashi, Hatasu, Brozman, Miroslav, Kyselová, Kateřina, Viszlayová, Daša, Morimoto, Takaaki, Roubec, Martin, Školoudík, David, Petrovičová, Andrea, Juskanič, Dominik, Strauss, Jozef, Halaj, Marián, Kurray, Peter, Hranai, Marián, Harada, Kouji H., Inoue, Sumiko, Yoshida, Yukako, Habu, Toshiyuki, Herzig, Roman, Youssefian, Shohab, Koizumi, Akio
Published in PloS one (13.10.2016)
Published in PloS one (13.10.2016)
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