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Cancer. New epigenetic drivers of cancers.

Elsässer, Simon J ; Allis, C David ; Lewis, Peter W Elsässer, Simon J (correspondence author) ; Elsässer, Simon J (record owner)

Science (New York, N.Y.), March 4, 2011, Vol.331(6021), pp.1145-1146 [Peer Reviewed Journal]

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Cancer. Potential of the synthetic lethality principle.

Nijman, Sebastian M B ; Friend, Stephen H Nijman, Sebastian M B (correspondence author) ; Nijman, Sebastian M B (record owner)

Science (New York, N.Y.), November 15, 2013, Vol.342(6160), pp.809-811 [Peer Reviewed Journal]

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Random fluctuation of selection coefficients and the extent of nucleotide variation in human populations.

Miura, Sayaka ; Zhang, Zhenguo ; Nei, Masatoshi Miura, Sayaka (correspondence author) ; Miura, Sayaka (record owner)

Proceedings of the National Academy of Sciences of the United States of America, June 25, 2013, Vol.110(26), pp.10676-10681 [Peer Reviewed Journal]

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Muscle ceroid lipofuscin-like deposits in a patient with corticobasal syndrome due to a progranulin mutation.

Terlizzi, Rossana ; Valentino, Maria Lucia ; Bartoletti-Stella, Anna ; Columbaro, Marta ; Piras, Silvia ; Stanzani-Maserati, Michelangelo ; Quadri, Marialuisa ; Breedveld, Guido J ; Bonifati, Vincenzo ; Martinelli, Paolo ; Parchi, Piero ; Capellari, Sabina Terlizzi, Rossana (correspondence author) ; Terlizzi, Rossana (record owner)

Movement disorders : official journal of the Movement Disorder Society, August 2017, Vol.32(8), pp.1259-1260 [Peer Reviewed Journal]

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An extremely severe phenotype attributed to WDR81 nonsense mutations

Cappuccio, Gerarda ; Pinelli, Michele ; Torella, Annalaura ; Vitiello, Giuseppina ; D'Amico, Alessandra ; Alagia, Marianna ; Del Giudice, Ennio ; Nigro, Vincenzo ; Brunetti-Pierri, Nicola

Annals of Neurology, Oct 2017, pp.650-651 [Peer Reviewed Journal]

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Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE.

Inamori, Kei-Ichiro ; Yoshida-Moriguchi, Takako ; Hara, Yuji ; Anderson, Mary E ; Yu, Liping ; Campbell, Kevin P Inamori, Kei-Ichiro (correspondence author) ; Inamori, Kei-Ichiro (record owner)

Science (New York, N.Y.), January 6, 2012, Vol.335(6064), pp.93-96 [Peer Reviewed Journal]

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(R)-2-Hydroxyglutarate Is Sufficient to Promote Leukemogenesis and Its Effects Are Reversible

Looper, Ryan ; Koivunen, Peppi ; Lee, Sungwoo ; Schneider, Rebekka ; Mcmahon, Christine ; Cowley, Glenn ; Root, David ; Ebert, Benjamin ; Kaelin, William

Science, Mar 29, 2013, pp.1621-1625 [Peer Reviewed Journal]

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Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO

Clark, Victoria ; Erson-Omay, Ezeynep ; Serin, Akdes ; Yin, Jun ; Cotney, Justin ; Oezduman, Koray ; Avsar, Timucin ; Li, Jie ; Murray, Phillip ; Henegariu, Octavian ; Yilmaz, Saliha ; Guenel, Jennifer ; Carrion-Grant, Geneive ; Yilmaz, Baran ; Grady, Conor ; Tanrikulu, Bahattin ; Bakircioglu, Mehmet ; Kaymakcalan, Hande ; Caglayan, Ahmet ; Sencar, Leman ; Ceyhun, Emre ; Atik, Afatih ; Bayri, Yasar ; Bai, Hanwen ; Kolb, Luis ; Hebert, Ryan ; Omay, Sbulent ; Mishra-Gorur, Ketu ; Choi, Murim ; Overton, John ; Holland, Eric ; Mane, Shrikant ; State, Matthew ; Bilguevar, Kaya ; Baehring, Joachim ; Gutin, Philip ; Piepmeier, Joseph ; Vortmeyer, Alexander ; Brennan, Cameron ; Pamir, Mnecmettin ; Kilic, Tuerker ; Lifton, Richard ; Noonan, James ; Yasuno, Katsuhito ; Guenel, Murat Clark, Victoria (correspondence author)

Science, Mar 1, 2013, Vol.339(6123), pp.1077-1080 [Peer Reviewed Journal]

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Inhibition of PRC2 activity by a gain-of-function H3 mutation found in pediatric glioblastoma.

Lewis, Peter W ; Müller, Manuel M ; Koletsky, Matthew S ; Cordero, Francisco ; Lin, Shu ; Banaszynski, Laura A ; Garcia, Benjamin A ; Muir, Tom W ; Becher, Oren J ; Allis, C David Lewis, Peter W (correspondence author) ; Lewis, Peter W (record owner)

Science (New York, N.Y.), May 17, 2013, Vol.340(6134), pp.857-861 [Peer Reviewed Journal]

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Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I.

He, Huiling ; Liyanarachchi, Sandya ; Akagi, Keiko ; Nagy, Rebecca ; Li, Jingfeng ; Dietrich, Rosemary C ; Li, Wei ; Sebastian, Nikhil ; Wen, Bernard ; Xin, Baozhong ; Singh, Jarnail ; Yan, Pearlly ; Alder, Hansjuerg ; Haan, Eric ; Wieczorek, Dagmar ; Albrecht, Beate ; Puffenberger, Erik ; Wang, Heng ; Westman, Judith A ; Padgett, Richard A ; Symer, David E ; de La Chapelle, Albert He, Huiling (correspondence author) ; He, Huiling (record owner)

Science (New York, N.Y.), April 8, 2011, Vol.332(6026), pp.238-240 [Peer Reviewed Journal]

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