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Clinical Outcomes and Complications of Pituitary Blastoma.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2021, v. 106, n. 2, p. 351, doi. 10.1210/clinem/dgaa857
By:
- Liu, Anthony P. Y.;
- Kelsey, Megan M.;
- Sabbaghian, Nelly;
- Sung-Hye Park;
- Deal, Cheri L.;
- Esbenshade, Adam J.;
- Ploner, Oswald;
- Peet, Andrew;
- Traunecker, Heidi;
- Ahmed, Yomna H. E.;
- Zacharin, Margaret;
- Tiulpakov, Anatoly;
- Lapshina, Anastasia M.;
- Walter, Andrew W.;
- Dutta, Pinaki;
- Rai, Ashutosh;
- Korbonits, Márta;
- de Kock, Leanne;
- Nichols, Kim E.;
- Foulkes, William D.
Publication type:
Article
Molecular characterization of 13 patients with PIK3CA‐related overgrowth spectrum using a targeted deep sequencing approach.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63466
By:
- de Kock, Leanne;
- Cuillerier, Alexanne;
- Gillespie, Meredith;
- Couse, Madeline;
- Hartley, Taila;
- Mears, Wendy;
- Bernier, Francois P.;
- Chudley, Albert E.;
- Frosk, Patrick;
- Nikkel, Sarah M.;
- Innes, A. Micheil;
- Lauzon, Julie;
- Thomas, Maryann;
- Guerin, Andrea;
- Armour, Christine M.;
- Weksberg, Rosanna;
- Scott, James N.;
- Watkins, Debra;
- Harvey, Shirley;
- Cytrynbaum, Cheryl
Publication type:
Article
Deep Sequencing Reveals Spatially Distributed Distinct Hot Spot Mutations in DICER1-Related Multinodular Goiter.
Published in:
2016
By:
- de Kock, Leanne;
- Bah, Ismaël;
- Revil, Timothée;
- Bérubé, Pierre;
- Wu, Mona K;
- Sabbaghian, Nelly;
- Priest, John R;
- Ragoussis, Jiannis;
- Foulkes, William D
Publication type:
journal article
Exploring the Association Between DICER1 Mutations and Differentiated Thyroid Carcinoma.
Published in:
2014
By:
- de Kock, Leanne;
- Sabbaghian, Nelly;
- Soglio, Dorothée Bouron-Dal;
- Guillerman, R Paul;
- Park, Byung-Kiu;
- Chami, Rose;
- Deal, Cheri L;
- Priest, John R;
- Foulkes, William D
Publication type:
Journal Article
Multiple DICER1‐related tumors in a child with a large interstitial 14q32 deletion.
Published in:
Genes, Chromosomes & Cancer, 2018, v. 57, n. 5, p. 223, doi. 10.1002/gcc.22523
By:
- de Kock, Leanne;
- Geoffrion, Dominique;
- Rivera, Barbara;
- Wagener, Rabea;
- Sabbaghian, Nelly;
- Bens, Susanne;
- Ellezam, Benjamin;
- Bouron‐Dal Soglio, Dorothée;
- Ordóñez, Jessica;
- Sacharow, Stephanie;
- Polo Nieto, Jose Fernando;
- Guillerman, R. Paul;
- Vujanic, Gordan M.;
- Priest, John R.;
- Siebert, Reiner;
- Foulkes, William D.
Publication type:
Article
Familial multinodular goiter and Sertoli-Leydig cell tumors associated with a large intragenic in-frame DICER1 deletion.
Published in:
European Journal of Endocrinology, 2018, v. 178, n. 2, p. K11, doi. 10.1530/EJE-17-0904
By:
- Apellaniz-Ruiz, Maria;
- de Kock, Leanne;
- Sabbaghian, Nelly;
- Guaraldi, Federica;
- Ghizzoni, Lucia;
- Beccuti, Guglielmo;
- Foulkes, William D.
Publication type:
Article
DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.
Published in:
2020
By:
- Rivera, Barbara;
- Nadaf, Javad;
- Fahiminiya, Somayyeh;
- Apellaniz-Ruiz, Maria;
- Saskin, Avi;
- Chong, Anne-Sophie;
- Sharma, Sahil;
- Wagener, Rabea;
- Revil, Timothée;
- Condello, Vincenzo;
- Harra, Zineb;
- Hamel, Nancy;
- Sabbaghian, Nelly;
- Muchantef, Karl;
- Thomas, Christian;
- de Kock, Leanne;
- Hébert-Blouin, Marie-Noëlle;
- Bassenden, Angelia V.;
- Rabenstein, Hannah;
- Mete, Ozgur
Publication type:
journal article
Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.
Published in:
2017
By:
- de Kock, Leanne;
- Rivera, Barbara;
- Revil, Timothée;
- Thorner, Paul;
- Goudie, Catherine;
- Bouron-Dal Soglio, Dorothée;
- Choong, Catherine S;
- Priest, John R;
- van Diest, Paul J;
- Tanboon, Jantima;
- Wagner, Anja;
- Ragoussis, Jiannis;
- Choong, Peter FM;
- Foulkes, William D;
- Revil, Timothée;
- Bouron-Dal Soglio, Dorothée
Publication type:
journal article
A case of neuroblastoma in DICER1 syndrome: Chance finding or noncanonical causation?
Published in:
2018
By:
- Saskin, Avi;
- de Kock, Leanne;
- Sabbaghian, Nelly;
- Apellaniz‐Ruiz, Maria;
- Bozkurt, Ceyhun;
- Bouron‐Dal Soglio, Dorothée;
- Foulkes, William D.
Publication type:
journal article
DICER1 mutations in an adolescent with cervical embryonal rhabdomyosarcoma (cERMS)
Published in:
2014
By:
- Tomiak, Eva;
- de Kock, Leanne;
- Grynspan, David;
- Ramphal, Raveena;
- Foulkes, William D
Publication type:
Journal Article
DICER1 mutations in an adolescent with cervical embryonal rhabdomyosarcoma (cERMS).
Published in:
Pediatric Blood & Cancer, 2014, v. 61, n. 3, p. 568, doi. 10.1002/pbc.24826
By:
- Tomiak, Eva;
- de Kock, Leanne;
- Grynspan, David;
- Ramphal, Raveena;
- Foulkes, William D.
Publication type:
Article
Germ-line and somatic DICER1 mutations in a pleuropulmonary blastoma.
Published in:
Pediatric Blood & Cancer, 2013, v. 60, n. 12, p. 2091, doi. 10.1002/pbc.24692
By:
- de Kock, Leanne;
- Plourde, François;
- Carter, Melissa T.;
- Hamel, Nancy;
- Srivastava, Archana;
- Meyn, M. Stephen;
- Arseneau, Jocelyne;
- Soglio, Dorothée Bouron ‐ Dal;
- Foulkes, William D.
Publication type:
Article
Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis.
Published in:
Familial Cancer, 2023, v. 22, n. 4, p. 487, doi. 10.1007/s10689-023-00336-1
By:
- Apellaniz-Ruiz, Maria;
- Sabbaghian, Nelly;
- Chong, Anne-Laure;
- de Kock, Leanne;
- Cetinkaya, Semra;
- Bayramoğlu, Elvan;
- Dinjens, Winand N. M.;
- McCluggage, W. Glenn;
- Wagner, Anja;
- Yilmaz, Aslihan Arasli;
- Foulkes, William D.
Publication type:
Article
Molecular characterization of DICER1-mutated pituitary blastoma.
Published in:
Acta Neuropathologica, 2021, v. 141, n. 6, p. 929, doi. 10.1007/s00401-021-02283-6
By:
- Nadaf, Javad;
- de Kock, Leanne;
- Chong, Anne-Sophie;
- Korbonits, Márta;
- Thorner, Paul;
- Benlimame, Naciba;
- Fu, Lili;
- Peet, Andrew;
- Warner, Justin;
- Ploner, Oswald;
- Shuangshoti, Shanop;
- Albrecht, Steffen;
- Hamel, Nancy;
- Priest, John R.;
- Rivera, Barbara;
- Ragoussis, Jiannis;
- Foulkes, William D.
Publication type:
Article
Pineoblastoma is uniquely tolerant of mutually exclusive loss of DICER1, DROSHA or DGCR8.
Published in:
Acta Neuropathologica, 2020, v. 139, n. 6, p. 1115, doi. 10.1007/s00401-020-02139-5
By:
- de Kock, Leanne;
- Rivera, Barbara;
- Foulkes, William D.
Publication type:
Article
An update on the central nervous system manifestations of DICER1 syndrome.
Published in:
Acta Neuropathologica, 2020, v. 139, n. 4, p. 689, doi. 10.1007/s00401-019-01997-y
By:
- de Kock, Leanne;
- Priest, John R.;
- Foulkes, William D.;
- Alexandrescu, Sanda
Publication type:
Article
Clinical and Molecular Characteristics May Alter Treatment Strategies of Thyroid Malignancies in DICER1 Syndrome.
Published in:
2018
By:
- van der Tuin, Karin;
- de Kock, Leanne;
- Kamping, Eveline J;
- Hannema, Sabine E;
- Pouwels, Marie-Jose M;
- Niedziela, Marek;
- van Wezel, Tom;
- Hes, Frederik J;
- Jongmans, Marjolijn C;
- Foulkes, William D;
- Morreau, Hans
Publication type:
journal article
DICER1 Mutations Are Frequent in Adolescent-Onset Papillary Thyroid Carcinoma.
Published in:
2018
By:
- Wasserman, Jonathan D;
- Sabbaghian, Nelly;
- Fahiminiya, Somayyeh;
- Chami, Rose;
- Mete, Ozgur;
- Acker, Meryl;
- Wu, Mona K;
- Shlien, Adam;
- de Kock, Leanne;
- Foulkes, William D
Publication type:
journal article
Systematic assessment of tissue dissociation and storage biases in single-cell and single-nucleus RNA-seq workflows.
Published in:
Genome Biology, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s13059-020-02048-6
By:
- Denisenko, Elena;
- Guo, Belinda B.;
- Jones, Matthew;
- Hou, Rui;
- de Kock, Leanne;
- Lassmann, Timo;
- Poppe, Daniel;
- Clément, Olivier;
- Simmons, Rebecca K.;
- Lister, Ryan;
- Forrest, Alistair R. R.
Publication type:
Article

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