SuzanneMacFarlandMD

PubMed

• Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumor-onlypaired tumor-normal sequencing.
  Haley Newman, Mary Egan Clark, Derek Wong, Jinhua Wu, Garrett M Brodeur, Stephen P Hunger, Sarah K Tasian, Timothy Olson, Julia T Warren, David T Teachey, Kira Bona, J...> ;Haematologica. 2024 Feb 22
• 1 citations
  B-cell acute lymphoblastic leukemia and juvenile xanthogranuloma in a patient withthrombocytopenia and leukemia predisposition syndrome: novel clinical presentation an...
  Haley Newman, Suzanne P MacFarland, Garrett M Brodeur, Timothy Olson, Deepa Bhojwani, Jamie Stokke, Alexandra E Kovach, Mary Egan Clark, Minjie Luo, Marilyn Li, Amish ...> ;Haematologica. 2023 Nov 30
• Hereditary haemorrhagic telangiectasia and SMAD4 mutation in a patient with complex single ventricle heart disease.
  Madison A Grasty, Constantine D Mavroudis, Aaron G DeWitt, Benjamin W Kozyak, Peter Mamula, Suzanne P MacFarland, Muhammad A K Nuri, Lindsay S Rogers, Jonathan J Rome,...> ;Cardiology in the Young. 2023 Dec 1
• 5 citations
  RNase IIIb domain mutations trigger widespread miRNA dysregulation and MAPK activation in pediatric thyroid cancer.
  Julio C Ricarte-Filho, Victoria Casado-Medrano, Erin Reichenberger, Zachary Spangler, Michele Scheerer, Amber Isaza, Julia Baran, Tasleema Patel, Suzanne P MacFarland,...> ;Frontiers in Endocrinology. 2023 Jan 1
• 4 citations
  Alternative lengthening of telomeres (ALT) in pediatric high-grade gliomas can occur without ATRX mutation and is enriched in patients with pathogenic germline mismatc...
  Jennifer L Stundon, Heba Ijaz, Krutika S Gaonkar, Rebecca S Kaufman, Run Jin, Anastasios Karras, Zalman Vaksman, Jung Kim, Ryan J Corbett, Matthew R Lueder, Daniel P M...> ;Neuro-Oncology. 2023 Jul 6
• 1 citations
  Collaboration to Promote Research and Improve Clinical Care in the Evolving Field of Childhood Cancer Predisposition.
  Suzanne P MacFarland, Luke Maese, Surya P Rednam, Junne Kamihara, Melissa R Perrino, Kim E Nichols, Garrett M Brodeur, Joshua D Schiffman, Sharon E Plon, Lisa R Diller...> ;Cancer Prevention Research. 2022 Oct 4
• FOCAD Indel in a Family With Juvenile Polyposis Syndrome.
  Suzanne P MacFarland, Hongbo Xie, Maiah H Dent, Bridgid Greed, Sharon E Plon, Sarah R Scollon, Garrett M Brodeur, James R Howe> ;Journal of Pediatric Gastroenterology and Nutrition. 2022 Jul 1
• 1 citations
  A noveltandem duplication in a child with Li-Fraumeni syndrome.
  Feng Xu, Erfan Aref-Eshghi, Jinhua Wu, Jeffrey Schubert, Gerald Wertheim, Tricia Bhatti, Jennifer Pogoriler, Maha Patel, Kajia Cao, Ariel Long, Zhiqian Fan, Elizabeth ...> ;Cold Spring Harbor Molecular Case Studies. 2022 Apr 1
• Neuroblastoma and cutaneous angiosarcoma in a child with PTEN hamartoma tumor syndrome.
  Michael S Leibowitz, Kristin Zelley, Denise Adams, Garrett M Brodeur, Elizabeth Fox, Marilyn M Li, Peter Mattei, Jennifer Pogoriler, Suzanne P MacFarland> ;Pediatric Blood & Cancer. 2022 Oct 1
• 4 citations
  Clinical and Functional Significance of TP53 Exon 4-Intron 4 Splice Junction Variants.
  Emilia M. Pinto, Kara N. Maxwell, Hadeel Halalsheh, Aaron H. Phillips, Jacquelyn Powers, Suzanne P. MacFarland, Michael Walsh, Kelsey Breen, Maria N. Formiga, Richard ...> ;Molecular Cancer Research. 2021 Oct 21
• Characterizing Pediatric Familial Adenomatous Polyposis in Patients Undergoing Colectomy in the United States.
  Colleen B. Flahive, Amanda Onwuka, Lee M. Bass, Suzanne P. MacFarland, Peter C. Minneci, Steven H. Erdman> ;The Journal of Pediatrics. 2021 Sep 22
• Juvenile polyposis without a germline variant in SMAD4/BMPR1A: defining a clinically distinct polyposis syndrome.
  Suzanne P. MacFarland, Bryson W. Katona> ;Oncotarget. 2021 Aug 31
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