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Frequency of radiation-induced malignancies post-adjuvant radiotherapy for breast cancer in patients with Li-Fraumeni syndrome.
Published in:
Breast Cancer Research & Treatment, 2020, v. 181, n. 1, p. 181, doi. 10.1007/s10549-020-05612-7
By:
- Le, Anh N.;
- Harton, Joanna;
- Desai, Heena;
- Powers, Jacquelyn;
- Zelley, Kristin;
- Bradbury, Angela R.;
- Nathanson, Katherine L.;
- Shah, Payal D.;
- Doucette, Abigail;
- Freedman, Gary M.;
- Gabriel, Peter;
- Domchek, Susan M.;
- MacFarland, Suzanne P.;
- Maxwell, Kara N.
Publication type:
Article
Developmental and behavioral phenotypes of pediatric patients with PTEN hamartoma tumor syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63608
By:
- MacFarland, Suzanne P.;
- Duvall, Melani;
- Kemajou, Raissa Tchetcho;
- Baldino, Sarah E.;
- Zelley, Kristin;
- Black, Chelsea;
- Thomas, Allison;
- Thomas, Nina H.;
- Ruffner, Melanie;
- Li, Yimei;
- Miller, Judith S.;
- Brodeur, Garrett M.;
- Shabason, Emily
Publication type:
Article
Hereditary haemorrhagic telangiectasia and SMAD4 mutation in a patient with complex single ventricle heart disease.
Published in:
Cardiology in the Young, 2023, v. 33, n. 12, p. 2667, doi. 10.1017/S104795112300344X
By:
- Grasty, Madison A.;
- Mavroudis, Constantine D.;
- DeWitt, Aaron G.;
- Kozyak, Benjamin W.;
- Mamula, Peter;
- MacFarland, Suzanne P.;
- Nuri, Muhammad A.K.;
- Rogers, Lindsay S.;
- Rome, Jonathan J.;
- Gaynor, J. William;
- Goldberg, David J.
Publication type:
Article
Childhood Cancer Predisposition: An Overview for the General Pediatrician.
Published in:
2022
By:
- Kagami, Laura;
- Baldino, Sarah;
- MacFarland, Suzanne P.
Publication type:
journal article
Occurrence of Hepatoblastomas in Patients with Beckwith–Wiedemann Spectrum (BWSp).
Published in:
Cancers, 2023, v. 15, n. 9, p. 2548, doi. 10.3390/cancers15092548
By:
- Klein, Steven D.;
- DeMarchis, Madison;
- Linn, Rebecca L.;
- MacFarland, Suzanne P.;
- Kalish, Jennifer M.
Publication type:
Article
Looking closely at overgrowth: Constitutional mosaicism in PTEN hamartoma tumor syndrome.
Published in:
Clinical Genetics, 2022, v. 102, n. 6, p. 557, doi. 10.1111/cge.14202
By:
- Newman, Haley;
- Long, Jessica M.;
- Zelley, Kristin;
- Baldino, Sarah;
- Li, Marilyn M.;
- Maxwell, Kara N.;
- MacFarland, Suzanne P.
Publication type:
Article
The Clinical Spectrum of PTEN Hamartoma Tumor Syndrome: Exploring the Value of Thyroid Surveillance.
Published in:
Hormone Research in Paediatrics, 2020, v. 93, n. 11-12, p. 634, doi. 10.1159/000515731
By:
- Baran, Julia A.;
- Tsai, Steven D.;
- Isaza, Amber;
- Brodeur, Garrett M.;
- MacFarland, Suzanne P.;
- Zelley, Kristin;
- Adams, Denise M.;
- Franco, Aime T.;
- Bauer, Andrew J.
Publication type:
Article
Atypical presentations of RECQL4‐related syndromes.
Published in:
Pediatric Blood & Cancer, 2024, v. 71, n. 12, p. 1, doi. 10.1002/pbc.31315
By:
- Grossman, Liron D.;
- Baldino, Sarah;
- Zelley, Kristin;
- Balis, Frank;
- Bagatell, Rochelle;
- Kalish, Jennifer M.;
- MacFarland, Suzanne P.
Publication type:
Article
Conservative management of gynecomastia in Peutz‐Jeghers syndrome: Case series and review of the literature.
Published in:
Pediatric Blood & Cancer, 2024, v. 71, n. 10, p. 1, doi. 10.1002/pbc.31180
By:
- Skafida, Myrto;
- Duvall, Melani M;
- Zelley, Kristin;
- Baldino, Sarah E.;
- Brodeur, Garrett M;
- Kolon, Thomas;
- Mostoufi‐Moab, Sogol;
- MacFarland, Suzanne P.
Publication type:
Article
Neuroblastoma and cutaneous angiosarcoma in a child with PTEN hamartoma tumor syndrome.
Published in:
Pediatric Blood & Cancer, 2022, v. 69, n. 10, p. 1, doi. 10.1002/pbc.29656
By:
- Leibowitz, Michael S.;
- Zelley, Kristin;
- Adams, Denise;
- Brodeur, Garrett M.;
- Fox, Elizabeth;
- Li, Marilyn M.;
- Mattei, Peter;
- Pogoriler, Jennifer;
- MacFarland, Suzanne P.
Publication type:
Article
Diagnosis of Beckwith-Wiedemann syndrome in children presenting with Wilms tumor.
Published in:
2018
By:
- MacFarland, Suzanne P.;
- Duffy, Kelly A.;
- Bhatti, Tricia R.;
- Bagatell, Rochelle;
- Balamuth, Naomi J.;
- Brodeur, Garrett M.;
- Ganguly, Arupa;
- Mattei, Peter A.;
- Surrey, Lea F.;
- Balis, Frank M.;
- Kalish, Jennifer M.
Publication type:
journal article
Management of adrenal masses in patients with Beckwith-Wiedemann syndrome.
Published in:
2017
By:
- MacFarland, Suzanne P.;
- Mostoufi‐Moab, Sogol;
- Zelley, Kristin;
- Mattei, Peter A.;
- States, Lisa J.;
- Bhatti, Tricia R.;
- Duffy, Kelly A.;
- Brodeur, Garrett M.;
- Kalish, Jennifer M.;
- Mostoufi-Moab, Sogol
Publication type:
journal article
FOCAD Indel in a Family With Juvenile Polyposis Syndrome.
Published in:
2022
By:
- MacFarland, Suzanne P.;
- Xie, Hongbo;
- Dent, Maiah H.;
- Greed, Bridgid;
- Plon, Sharon E.;
- Scollon, Sarah R.;
- Brodeur, Garrett M.;
- Howe, James R.
Publication type:
journal article
Gastrointestinal Polyposis in Pediatric Patients.
Published in:
2019
By:
- MacFarland, Suzanne P.;
- Zelley, Kristin;
- Katona, Bryson W.;
- Wilkins, Benjamin J.;
- Brodeur, Garrett M.;
- Mamula, Petar
Publication type:
journal article
Disease Burden and Outcome in Children and Young Adults With Concurrent Graves Disease and Differentiated Thyroid Carcinoma.
Published in:
2018
By:
- MacFarland, Suzanne P;
- Bauer, Andrew J;
- Adzick, N Scott;
- Surrey, Lea F;
- Noyes, Jessica;
- Kazahaya, Ken;
- Mostoufi-Moab, Sogol
Publication type:
journal article
A germline PALB2 pathogenic variant identified in a pediatric high-grade glioma.
Published in:
Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005397
By:
- Yiming Zhong;
- Schubert, Jeffrey;
- Wu, Jinhua;
- Feng Xu;
- Fumin Lin;
- Cao, Kajia;
- Zelley, Kristin;
- Minjie Luo;
- Foster, Jessica B.;
- Cole, Kristina A.;
- MacFarland, Suzanne P.;
- Resnick, Adam C.;
- Storm, Phillip B.;
- M. Li, Marilyn
Publication type:
Article
Alternative lengthening of telomeres (ALT) in pediatric high-grade gliomas can occur without ATRX mutation and is enriched in patients with pathogenic germline mismatch repair (MMR) variants.
Published in:
Neuro-Oncology, 2023, v. 25, n. 7, p. 1331, doi. 10.1093/neuonc/noac278
By:
- Stundon, Jennifer L;
- Ijaz, Heba;
- Gaonkar, Krutika S;
- Kaufman, Rebecca S;
- Jin, Run;
- Karras, Anastasios;
- Vaksman, Zalman;
- Kim, Jung;
- Corbett, Ryan J;
- Lueder, Matthew R;
- Miller, Daniel P;
- Guo, Yiran;
- Santi, Mariarita;
- Li, Marilyn;
- Lopez, Gonzalo;
- Storm, Phillip B;
- Resnick, Adam C;
- Waanders, Angela J;
- MacFarland, Suzanne P;
- Stewart, Douglas R
Publication type:
Article
Characteristics Associated with Tumor Development in Individuals Diagnosed with Beckwith–Wiedemann Spectrum: Novel Tumor-(epi)Genotype-Phenotype Associations in the BWSp Population.
Published in:
Genes, 2021, v. 12, n. 11, p. 1839, doi. 10.3390/genes12111839
By:
- Duffy, Kelly A.;
- Getz, Kelly D.;
- Hathaway, Evan R.;
- Byrne, Mallory E.;
- MacFarland, Suzanne P.;
- Kalish, Jennifer M.
Publication type:
Article
Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence.
Published in:
JNCI: Journal of the National Cancer Institute, 2024, v. 116, n. 8, p. 1356, doi. 10.1093/jnci/djae102
By:
- Luo, Minjie;
- Wong, Derek;
- Zelley, Kristin;
- Wu, Jinhua;
- Schubert, Jeffery;
- Denenberg, Elizabeth H;
- Fanning, Elizabeth A;
- Chen, Jiani;
- Gallo, Daniel;
- Golenberg, Netta;
- Patel, Maha;
- Conlin, Laura K;
- Maxwell, Kara N;
- Wertheim, Gerald B;
- Surrey, Lea F;
- Zhong, Yiming;
- Brodeur, Garrett M;
- MacFarland, Suzanne P;
- Li, Marilyn M
Publication type:
Article
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Published in:
Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0644-8
By:
- Surrey, Lea F.;
- MacFarland, Suzanne P.;
- Chang, Fengqi;
- Cao, Kajia;
- Rathi, Komal S.;
- Akgumus, Gozde T.;
- Gallo, Daniel;
- Lin, Fumin;
- Gleason, Adam;
- Raman, Pichai;
- Aplenc, Richard;
- Bagatell, Rochelle;
- Minturn, Jane;
- Mosse, Yael;
- Santi, Mariarita;
- Tasian, Sarah K.;
- Waanders, Angela J.;
- Sarmady, Mahdi;
- Maris, John M.;
- Hunger, Stephen P.
Publication type:
Article
RET receptor expression and interaction with TRK receptors in neuroblastomas.
Published in:
Oncology Reports, 2020, v. 44, n. 1, p. 263, doi. 10.3892/or.2020.7583
By:
- Tetri, Laura H.;
- Kolla, Venkatadri;
- Golden, Rebecca L.;
- Iyer, Radhika;
- Croucher, Jamie L.;
- Choi, Jee-Hye;
- Macfarland, Suzanne P.;
- Naraparaju, Koumudi;
- Guan, Peng;
- Nguyen, Ferro;
- Gaonkar, Krutika S.;
- Raman, Pichai;
- Brodeur, Garrett M.
Publication type:
Article

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