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Journal of the Association for Research in Otolaryngology, ISSN 1525-3961, 8/2014, Volume 15, Issue 4, pp. 529 - 541
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 09/2015, Volume 74, Issue 9, pp. 1714 - 1719
Journal Article
The Lancet (British edition), ISSN 0140-6736, 10/2017, Volume 390, Issue 10104, pp. 1758 - 1768
Niemann-Pick disease, type C (NPC) is a recessive, lysosomal storage disorder characterised by endolysosomal accumulation of unesterified cholesterol... 
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Injections, Spinal | Niemann-Pick Disease, Type C - drug therapy | 2-Hydroxypropyl-beta-cyclodextrin - adverse effects | Humans | Rare Diseases - drug therapy | Hearing Loss, High-Frequency - chemically induced | Child, Preschool | Niemann-Pick Disease, Type C - cerebrospinal fluid | Fatty Acid Binding Protein 3 - cerebrospinal fluid | Male | Biomarkers - blood | Hydroxycholesterols - cerebrospinal fluid | 2-Hydroxypropyl-beta-cyclodextrin - administration & dosage | Disease Progression | Dose-Response Relationship, Drug | Young Adult | Adolescent | Calbindins - cerebrospinal fluid | Female | Hydroxycholesterols - blood | Biomarkers - cerebrospinal fluid | Niemann-Pick Disease, Type C - blood | Child | Niemann-Pick disease | Medical research | Genetic disorders | Research & development--R&D | Clinical trials | Patients | Evidence-based medicine | Cholesterol | Studies | Cyclodextrin | Neurodegeneration | Biomarkers | Drug therapy | Drug dosages | Cerebellum | Regulatory agencies | Animal models | Childrens health | Hepatocellular carcinoma | Cognition | Cyclodextrins | Cerebrospinal fluid | Dosage | Proteins | Randomization | Npc1 protein | Bioindicators | Safety | Age | Health | FDA approval | Health care facilities | Hearing loss | Domains | Life span | Hearing aids | Mastoiditis | Ototoxicity | Index Medicus | Abridged Index Medicus
Journal Article
by Mavaddat, N and Barrowdale, D and Andrulis, I. L and Domchek, S. M and Eccles, D and Nevanlinna, H and Ramus, S. J and Spurdle, A and Robson, M and Sherman, M and Mulligan, A. M and Couch, F. J and Engel, C and McGuffog, L and Healey, S and Sinilnikova, O. M and Southey, M. C and Terry, M. B and Goldgar, D and O'Malley, F and John, E. M and Janavicius, R and Tihomirova, L and Hansen, T. V. O and Nielsen, F. C and Osorio, A and Stavropoulou, A and Benitez, J and Manoukian, S and Peissel, B and Barile, M and Volorio, S and Pasini, B and Dolcetti, R and Putignano, A. L and Ottini, L and Radice, P and Hamann, U and Rashid, M. U and Hogervorst, F. B and Kriege, M and van der Luijt, R. B and Peock, S and Frost, D and Evans, D. G and Brewer, C and Walker, L and Rogers, M. T and Side, L. E and Houghton, C and Weaver, J and Godwin, A. K and Schmutzler, R. K and Wappenschmidt, B and Meindl, A and Kast, K and Arnold, N and Niederacher, D and Sutter, C and Deissler, H and Gadzicki, D and Preisler-Adams, S and Varon-Mateeva, R and Schonbuchner, I and Gevensleben, H and Stoppa-Lyonnet, D and Belotti, M and Barjhoux, L and Isaacs, C and Peshkin, B. N and Caldes, T and de la Hoya, M and Canadas, C and Heikkinen, T and Heikkila, P and Aittomaki, K and Blanco, I and Lazaro, C and Brunet, J and Agnarsson, B. A and Arason, A and Barkardottir, R. B and Dumont, M and Simard, J and Montagna, M and Agata, S and D'Andrea, E and Yan, M and Fox, S and Rebbeck, T. R and Rubinstein, W and Tung, N and Garber, J. E and Wang, X and Fredericksen, Z and Pankratz, V. S and Lindor, N. M and Szabo, C and Offit, K and Sakr, R and ... and for EMBRACE and for HEBON and for the Consortium of Investigators of Modifiers of BRCA1/2 and for SWE-BRCA Collaborators and for kConFab Investigators and for GEMO Study Collaborators and kConFab Investigators and HEBON and EMBRACE and GEMO Study Collaborators and SWE-BRCA Collaborators and Consortium Investigators Modifiers and Consortium of Investigators of Modifiers of BRCA1/2
Cancer epidemiology, biomarkers & prevention, ISSN 1538-7755, 12/2011, Volume 21, Issue 1, pp. 134 - 147
Journal Article
by Hoadley, Katherine A and Yau, Christina and Hinoue, Toshinori and Lazar, Alexander J and Drill, Esther and Shen, Ronglai and Taylor, Alison M and Sanchez-Vega, Francisco and Schneider, Barbara G and Lawrence, Michael S and Malta, Tathiane M and Stuart, Joshua M and Laird, Peter W and Demchok, John A and Kasapi, Melpomeni and Hutter, Carolyn M and Sofia, Heidi J and Tarnuzzer, Roy and Wang, Zhining and Yang, Liming and Zenklusen, Jean C and Zhang, Jiashan (Julia) and Chudamani, Sudha and Liu, Jia and Naresh, Rashi and Pihl, Todd and Sun, Qiang and Wan, Yunhu and Wu, Ye and Cho, Juok and DeFreitas, Timothy and Frazer, Scott and Getz, Gad and Heiman, David I and Lin, Pei and Noble, Michael S and Saksena, Gordon and Voet, Doug and Zhang, Hailei and Bernard, Brady and Dhankani, Varsha and Knijnenburg, Theo and Kramer, Roger and Leinonen, Kalle and Miller, Michael and Shmulevich, Ilya and Thorsson, Vesteinn and Zhang, Wei and Hegde, Apurva M and Ju, Zhenlin and Li, Jun and Liang, Han and Ling, Shiyun and Liu, Wenbin and Mills, Gordon B and Ng, Kwok-Shing and Rao, Arvind and Ryan, Michael and Zhang, Jiexin and Chakravarty, Debyani and Chatila, Walid K and de Bruijn, Ino and Gao, Jianjiong and Gross, Benjamin E and Heins, Zachary J and Kundra, Ritika and La, Konnor and Luna, Augustin and Nissan, Moriah G and Reznik, Ed and Sander, Chris and Sheridan, Robert and Sumer, S. Onur and Sun, Yichao and Wang, Jioajiao and Zhang, Hongxin and Anur, Pavana and Peto, Myron and Spellman, Paul and Benz, Christopher and Hayes, D. Neil and Parker, Joel S and Ally, Adrian and Balasundaram, Miruna and Chuah, Eric and Dhalla, Noreen and Lee, Darlene and Marra, Marco A and Mayo, Michael and Moore, Richard A and Mungall, Karen and Schein, Jacqueline E and Tam, Angela and Thiessen, Nina and Tse, Kane and Wong, Tina and Beroukhim, Rameen and Gao, Galen F and Ha, Gavin and Meyerson, Matthew and ... and The Cancer Genome Atlas Network and Cancer Genome Atlas Network
Cell (Cambridge), ISSN 0092-8674, 04/2018, Volume 173, Issue 2, pp. 291 - 304.e6
Journal Article
by Taylor, Alison M and Shih, Juliann and Ha, Gavin and Gao, Galen F and Zhang, Xiaoyang and Berger, Ashton C and Schumacher, Steven E and Wang, Chen and Hu, Hai and Liu, Jianfang and Lazar, Alexander J and Cherniack, Andrew D and Beroukhim, Rameen and Meyerson, Matthew and Caesar-Johnson, Samantha J and Kasapi, Melpomeni and Ferguson, Martin L and Sofia, Heidi J and Tarnuzzer, Roy and Wang, Zhining and Zenklusen, Jean C and Chudamani, Sudha and Liu, Jia and Lolla, Laxmi and Naresh, Rashi and Pihl, Todd and Wan, Yunhu and Wu, Ye and Cho, Juok and DeFreitas, Timothy and Frazer, Scott and Gehlenborg, Nils and Getz, Gad and Kim, Jaegil and Lawrence, Michael S and Lin, Pei and Noble, Michael S and Saksena, Gordon and Voet, Doug and Zhang, Hailei and Chambwe, Nyasha and Dhankani, Varsha and Knijnenburg, Theo and Kramer, Roger and Reynolds, Sheila and Shmulevich, Ilya and Thorsson, Vesteinn and Akbani, Rehan and Broom, Bradley M and Kanchi, Rupa S and Korkut, Anil and Li, Jun and Liang, Han and Ling, Shiyun and Mills, Gordon B and Rao, Arvind and Ryan, Michael and Wang, Jing and Weinstein, John N and Zhang, Jiexin and Abeshouse, Adam and Armenia, Joshua and Chakravarty, Debyani and Chatila, Walid K and de Bruijn, Ino and Gao, Jianjiong and Gross, Benjamin E and Kundra, Ritika and Ladanyi, Marc and Luna, Augustin and Nissan, Moriah G and Ochoa, Angelica and Phillips, Sarah M and Reznik, Ed and Sander, Chris and Sheridan, Robert and Taylor, Barry S and Wang, Jioajiao and Peto, Myron and Spellman, Paul and Wilkerson, Matthew D and Brooks, Denise and Chuah, Eric and Dhalla, Noreen and Holt, Robert and Jones, Steven J.M and Lee, Darlene and Marra, Marco A and Moore, Richard A and Mungall, Andrew J and Mungall, Karen and Robertson, A. Gordon and Sadeghi, Sara and Schein, Jacqueline E and Sipahimalani, Payal and Tam, Angela and Thiessen, Nina and Tse, Kane and Wong, Tina and Gabriel, Stacey B and ... and The Cancer Genome Atlas Research Network and Canc Genome Atlas Res Network and Cancer Genome Atlas Research Network
Cancer cell, ISSN 1535-6108, 04/2018, Volume 33, Issue 4, pp. 676 - 689.e3
Journal Article