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1
Bi‐allelic alterations in DNA repair genes underpin homologous recombination DNA repair defects in breast cancer
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Bi‐allelic alterations in DNA repair genes underpin homologous recombination DNA repair defects in breast cancer

Mutter, Robert W ; Riaz, Nadeem ; Ng, Charlotte KY ; Delsite, Rob ; Piscuoglio, Salvatore ; Edelweiss, Marcia ; Martelotto, Luciano G ; Sakr, Rita A ; King, Tari A ; Giri, Dilip D ; Drobnjak, Maria ; Brogi, Edi ; Bindra, Ranjit ; Bernheim, Giana ; Lim, Raymond S ; Blecua, Pedro ; Desrichard, Alexis ; Higginson, Dan ; Towers, Russell ; Jiang, Ruomu ; Lee, William ; Weigelt, Britta ; ReisFilho, Jorge S ; Powell, Simon N

The Journal of pathology, 2017-06, Vol.242 (2), p.165-177 [Periódico revisado por pares]

Chichester, UK: John Wiley & Sons, Ltd

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2
Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3
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Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3

Macedo, Delanie B ; Abreu, Ana Paula ; Reis, Ana Claudia S ; Montenegro, Luciana R ; Dauber, Andrew ; Beneduzzi, Daiane ; Cukier, Priscilla ; Silveira, Leticia F. G ; Teles, Milena G ; Carroll, Rona S ; Junior, Gil Guerra ; Filho, Guilherme Guaragna ; Gucev, Zoran ; Arnhold, Ivo J. P ; de Castro, Margaret ; Moreira, Ayrton C ; Martinelli, Carlos Eduardo ; Hirschhorn, Joel N ; Mendonca, Berenice B ; Brito, Vinicius N ; Antonini, Sonir R ; Kaiser, Ursula B ; Latronico, Ana Claudia

The journal of clinical endocrinology and metabolism, 2014-06, Vol.99 (6), p.E1097-E1103 [Periódico revisado por pares]

United States: Endocrine Society

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3
DICER1 hotspot mutations in non-epithelial gonadal tumours
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DICER1 hotspot mutations in non-epithelial gonadal tumours

WITKOWSKI, L ; MATTINA, J ; SCHNEIDER, D. T ; ARSENEAU, J ; STEWART, C. J. R ; FOULKES, W. D ; SCHÖNBERGER, S ; MURRAY, M. J ; HUNTSMAN, D. G ; REIS, J. S ; MCCLUGGAGE, W. G ; NICHOLSON, J. C ; COLEMAN, N ; CALAMINUS, G

British journal of cancer, 2013-11, Vol.109 (10), p.2744-2750 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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4
Expression, mutation and copy number analysis of platelet-derived growth factor receptor A (PDGFRA) and its ligand PDGFA in gliomas
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Expression, mutation and copy number analysis of platelet-derived growth factor receptor A (PDGFRA) and its ligand PDGFA in gliomas

MARTINHO, O ; LONGATTO, A ; TAMBER, N ; FENWICK, K ; ASHWORTH, A ; REIS, J. S ; LOPES, J. M ; REIS, R. M ; LAMBROS, Mbk ; MARTINS, A ; PINHEIRO, C ; SILVA, A ; PARDAL, F ; AMORIM, J ; MACKAY, A ; MILANEZI, F

British journal of cancer, 2009-09, Vol.101 (6), p.973-982 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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5
Genomic analysis of recurrences and high‐grade forms of polymorphous adenocarcinoma
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Genomic analysis of recurrences and high‐grade forms of polymorphous adenocarcinoma

Sebastiao, Ana P M ; Pareja, Fresia ; Kumar, Rahul ; Brown, David N ; Silveira, Catarina ; Silva, Edaise M ; Lee, Ju Y ; Del, Angela ; Katabi, Nora ; Chiosea, Simion ; Weigelt, Britta ; ReisFilho, Jorge S ; Seethala, Raja R

Histopathology, 2019-08, Vol.75 (2), p.193-201 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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6
Genomic Methods Identify Homologous Recombination Deficiency in Pancreas Adenocarcinoma and Optimize Treatment Selection
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Genomic Methods Identify Homologous Recombination Deficiency in Pancreas Adenocarcinoma and Optimize Treatment Selection

Park, Wungki ; Chen, Jiapeng ; Chou, Joanne F ; Varghese, Anna M ; Yu, Kenneth H ; Wong, Winston ; Capanu, Marinela ; Balachandran, Vinod ; McIntyre, Caitlin A ; El Dika, Imane ; Khalil, Danny N ; Harding, James J ; Ghalehsari, Nima ; McKinnell, Zoe ; Chalasani, Sree B ; Makarov, Vladimir ; Selenica, Pier ; Pei, Xin ; Lecomte, Nicolas ; Kelsen, David P ; Abou-Alfa, Ghassan K ; Robson, Mark E ; Zhang, Liying ; Berger, Michael F ; Schultz, Nikolaus ; Chan, Timothy A ; Powell, Simon N ; Reis-Filho, Jorge S ; Iacobuzio-Donahue, Christine A ; Riaz, Nadeem ; O'Reilly, Eileen M

Clinical cancer research, 2020-07, Vol.26 (13), p.3239-3247 [Periódico revisado por pares]

United States

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7
High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants
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High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants

Razavi, Pedram ; Li, Bob T ; Brown, David N ; Jung, Byoungsok ; Hubbell, Earl ; Shen, Ronglai ; Abida, Wassim ; Juluru, Krishna ; De Bruijn, Ino ; Hou, Chenlu ; Venn, Oliver ; Lim, Raymond ; Anand, Aseem ; Maddala, Tara ; Gnerre, Sante ; Vijaya Satya, Ravi ; Liu, Qinwen ; Shen, Ling ; Eattock, Nicholas ; Yue, Jeanne ; Blocker, Alexander W ; Lee, Mark ; Sehnert, Amy ; Xu, Hui ; Hall, Megan P ; Santiago-Zayas, Angie ; Novotny, William F ; Isbell, James M ; Rusch, Valerie W ; Plitas, George ; Heerdt, Alexandra S ; Ladanyi, Marc ; Hyman, David M ; Jones, David R ; Morrow, Monica ; Riely, Gregory J ; Scher, Howard I ; Rudin, Charles M ; Robson, Mark E ; Diaz, Jr, Luis A ; Solit, David B ; Aravanis, Alexander M ; Reis-Filho, Jorge S

Nature medicine, 2019-12, Vol.25 (12), p.1928-1937 [Periódico revisado por pares]

United States: Nature Publishing Group

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8
Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors
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Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors

Pareja, Fresia ; Brandes, Alissa H ; Basili, Thais ; Selenica, Pier ; Geyer, Felipe C ; Fan, Dan ; Da Cruz Paula, Arnaud ; Kumar, Rahul ; Brown, David N ; Gularte-Mérida, Rodrigo ; Alemar, Barbara ; Bi, Rui ; Lim, Raymond S ; de Bruijn, Ino ; Fujisawa, Sho ; Gardner, Rui ; Feng, Elvin ; Li, Anqi ; da Silva, Edaise M ; Lozada, John R ; Blecua, Pedro ; Cohen-Gould, Leona ; Jungbluth, Achim A ; Rakha, Emad A ; Ellis, Ian O ; Edelweiss, Maria I A ; Palazzo, Juan ; Norton, Larry ; Hollmann, Travis ; Edelweiss, Marcia ; Rubin, Brian P ; Weigelt, Britta ; Reis-Filho, Jorge S

Nature communications, 2018-08, Vol.9 (1), p.3533-13, Article 3533 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Solid pseudopapillary neoplasms of the pancreas are dependent on the Wnt pathway
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Solid pseudopapillary neoplasms of the pancreas are dependent on the Wnt pathway

Selenica, Pier ; Raj, Nitya ; Kumar, Rahul ; Brown, David N. ; Arqués, Oriol ; Reidy, Diane ; Klimstra, David ; Snuderl, Matija ; Serrano, Jonathan ; Palmer, Héctor G. ; Weigelt, Britta ; ReisFilho, Jorge S. ; Scaltriti, Maurizio

Molecular oncology, 2019-08, Vol.13 (8), p.1684-1692 [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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10
The repertoire of genetic alterations in salivary duct carcinoma including a novel HNRNPH3-ALK rearrangement
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The repertoire of genetic alterations in salivary duct carcinoma including a novel HNRNPH3-ALK rearrangement

Dogan, Snjezana ; Ng, Charlotte K.Y. ; Xu, Bin ; Kumar, Rahul ; Wang, Lu ; Edelweiss, Marcia ; Scott, Sasinya N. ; Zehir, Ahmet ; Drilon, Alexander ; Morris, Luc G.T. ; Lee, Nancy Y. ; Antonescu, Cristina R. ; Ho, Alan L. ; Katabi, Nora ; Berger, Michael F. ; Reis-Filho, Jorge S.

Human pathology, 2019-06, Vol.88, p.66-77 [Periódico revisado por pares]

United States: Elsevier Inc

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