Author details

Full Name

Suzanne P MacFarland

Affiliation

ORCID

Career Start Year

2008

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
38031764	B-cell acute lymphoblastic leukemia and juvenile xanthogranuloma in a patient with <i>ETV6</i> thrombocytopenia and leukemia predisposition syndrome: novel clinical presentation and perspective.	Haematologica	2024
37428016	Rates of Intervention and Cancer Detection on Initial versus Subsequent Whole-body MRI Screening in Li-Fraumeni Syndrome.		2023
36896180	<i>DICER1</i> RNase IIIb domain mutations trigger widespread miRNA dysregulation and MAPK activation in pediatric thyroid cancer.	Front Endocrinol (Lausanne)	2023
36541551	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.	Neuro Oncol	2023
37174013	Occurrence of Hepatoblastomas in Patients with Beckwith-Wiedemann Spectrum (BWSp).		2023
35020509	Childhood Cancer Predisposition: An Overview for the General Pediatrician.	Pediatric Annals	2022
36001348	Collaboration to Promote Research and Improve Clinical Care in the Evolving Field of Childhood Cancer Predisposition.	Cancer Prev Res (Phila)	2022
35622075	FOCAD Indel in a Family With Juvenile Polyposis Syndrome.	J Pediatr Gastroenterol Nutr	2022
35923098	Looking closely at overgrowth: Constitutional mosaicism in PTEN hamartoma tumor syndrome.	Clin Genet	2022
35278038	Neuroblastoma and cutaneous angiosarcoma in a child with PTEN hamartoma tumor syndrome.	Pediatr Blood Cancer	2022
34675114	Clinical and Functional Significance of TP53 Exon 4-Intron 4 Splice Junction Variants.	Mol Cancer Res	2022
34560095	Characterizing Pediatric Familial Adenomatous Polyposis in Patients Undergoing Colectomy in the United States.	Journal of Pediatrics	2022
35232817	A novel <i>TP53</i> tandem duplication in a child with Li-Fraumeni syndrome.	Cold Spring Harb Mol Case Stud	2022
34828445	Characteristics Associated with Tumor Development in Individuals Diagnosed with Beckwith-Wiedemann Spectrum: Novel Tumor-(epi)Genotype-Phenotype Associations in the BWSp Population.	Genes	2021
33625877	OncoTree: A Cancer Classification System for Precision Oncology.	JCO Clin Cancer Inform	2021
33097490	Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing <i>SMAD4</i>/<i>BMPR1A</i> Variant.	Cancer Prev Res (Phila)	2021
34504656	Juvenile polyposis without a germline variant in : defining a clinically distinct polyposis syndrome.	Oncotarget	2021
32554798	A germline <i>PALB2</i> pathogenic variant identified in a pediatric high-grade glioma.	Cold Spring Harb Mol Case Stud	2020
32319659	RET receptor expression and interaction with TRK receptors in neuroblastomas.	Oncol Rep	2020
32246378	Frequency of radiation-induced malignancies post-adjuvant radiotherapy for breast cancer in patients with Li-Fraumeni syndrome.	Breast Cancer Res Treat	2020
31871269	Mechanisms of Entrectinib Resistance in a Neuroblastoma Xenograft Model.	Mol Cancer Ther	2020
33887726	The Clinical Spectrum of PTEN Hamartoma Tumor Syndrome: Exploring the Value of Thyroid Surveillance.	Horm Res Paediatr	2020
32571504	Genetic syndromes associated with endocrine tumors in children.	Semin Pediatr Surg	2020
32675277	A Rare <i>TP53</i> Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers.	Cancer Res	2020
31150609	Reply.	Gastroenterology	2019
32783018	Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition.	JCO Precis Oncol	2019
30243621	Earlier Colorectal Cancer Screening May Be Necessary In Patients With Li-Fraumeni Syndrome.	Gastroenterology	2019
30480556	Advances in neuroblastoma therapy.	Current Opinion in Pediatrics	2019
31133068	Clinical utility of custom-designed NGS panel testing in pediatric tumors.	Genome Med	2019
31211762	Gastrointestinal Polyposis in Pediatric Patients.	Journal of Pediatric Gastroenterology and Nutrition	2019
29788090	Disease Burden and Outcome in Children and Young Adults With Concurrent Graves Disease and Differentiated Thyroid Carcinoma.	J Clin Endocrinol Metab	2018
29932284	Diagnosis of Beckwith-Wiedemann syndrome in children presenting with Wilms tumor.	Pediatr Blood Cancer	2018
29323666	The differential diagnosis of a TP53 genetic testing result.	Genetics in Medicine	2018
29240034	Management of Refractory Pediatric Kaposiform Hemangioendothelioma With Sirolimus and Aspirin.	J Pediatr Hematol Oncol	2018
28066990	Management of adrenal masses in patients with Beckwith-Wiedemann syndrome.	Pediatr Blood Cancer	2017
26797418	Entrectinib is a potent inhibitor of Trk-driven neuroblastomas in a xenograft mouse model.	Cancer Lett	2016
25927084	Pancytopenia in a patient with methylmalonic acidemia.	Blood	2015
22321814	Perceived barriers to care and attitudes towards shared decision-making among low socioeconomic status parents: role of health literacy.	Academic Pediatrics	2012
19011203	Weight and nutrition affect pre-mRNA splicing of a muscle gene associated with performance, energetics and life history.	Journal of Experimental Biology	2008