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PUBLICATIONS

Chang VY, Federman N, Martinez-Agosto J, Tatishchev SF, Nelson SF. Whole Exome Sequencing of Pediatric Gastric Adenocarcinoma Reveals an Atypical Presentation of Li-Fraumeni Syndrome. Pediatr Blood Cancer. 2013 Apr;60(4):570-4.

 

Chang VY, Basso G, Sakamoto KM, Nelson SF. Identification of Somatic Mutations using Whole Exome Sequencing of Congenital Acute Lymphoblastic Leukemia. BMC Cancer. 2013 Feb 4;13:55.

 

Lee H, Deignan J, Dorrani N, Strom S, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel B, Martinez-Agosto J, Wong DA, Chang VY, Shieh PB, Palmer CGS, Dipple K, Grody WW, Vilain E, Nelson SF. Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders. JAMA. 2014 Oct 18. 

 

*Paganini I, *Chang VY, Capone G, Vitte J, Benelli M, Barbetti L, Sestini R, Trevisson 

E, Hulsebos T, #Giovannini M, #Nelson SF, #Papi L. Expanding the Mutational Spectrum of LZTR1 in Schwannomatosis. European Journal of Human Genetics. 2015 Jul;23(7):963-8.

 

Chang VY, Davidson TB. Childhood Exposures and Risk of Malignancy in Adulthood. Pediatr Ann. 2015 Nov;44(11):e270-3.

 

Truscott L, Gell J, Chang VY, Lee H, Strom S, Pillai R, Sisk A, Martinez-Agosto JA, Anderson M, Federman N. Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation. Pediatr Blood Cancer. 2016 Aug 31. 

 

*Lee DK, *Chang VY, Kee T, Ho CM, Ho D. Optimizing Combination Therapy for Acute Lymphoblastic Leukemia Using a Phenotypic Personalized Medicine Digital Health Platform: Retrospective Optimization Individualizes Patient Regimens to Maximize Efficacy and Safety. J Lab Autom. 2016 Dec 5. pii: 2211068216681979. Epub ahead of print

 

*denotes co-first author

 

Walsh MF, Chang VY, Kohlmann WK, Scott HS, Cunniff C, Bourdeaut C, Molenaar JJ, Porter CC, Sandlund JT, Plon S, Wang LL, Savage S. Recommendations for Cancer Screening and Surveillance in DNA Repair Disorders: A Report from the AACR Childhood Cancer Predisposition Workshop. Clin Cancer Res. 2017 June 12:11. 

 

Evans DG, Salvador H, Chang VY, Erez A, Voss SD, Wolfe Schneider K, Scott HS, Plon SE, Tabori U. Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 1. Clin Cancer Res. 2017 June 15. 23:12; doi: 10.1158/1078-0432.CCR-17-0589. 

 

Evans DG, Salvador H, Chang VY, Erez A, Voss SD, Druker H, Scott HS, Tabori U. Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 2 and Related Disorders. Clin Cancer Res. 2017 June. 23:12; doi: 10.1158/1078-0432.CCR-17-0590. 

 

Chang VY, Termini CM, Chute JP. Young Endothelial Cells Revive Aging Blood. J Clin Invest. 2017 Nov 1;127(11):3921-3922. doi: 10.1172/JCI97707. Epub 2017 Oct 16.

 

Chang VY, Wang JJ. Pharmacogenetics of Chemotherapy-Induced Cardiotoxicity. Current Oncology Reports. 2018 April. 20:52.

 

Himburg H, Kan J, Li M, Fang T, Sasine J, Chang VY, Chute J. Distinct Bone Marrow Sources

of Pleiotrophin Control Hematopoietic Stem Cell Maintenance and Regeneration. Cell Stem Cell. 2018 Jul 30.

 

Friend B, Schneider KW, Garrington T, Truscott L, Martinez-Agosto J, Venick R, Tsai Chambers E, Weng P, Douglas F, Chang VY, Federman, N. Is Polycystic Kidney Disease Associated with Malignancy in Children? Mol Genet Genomic Med. 2019 Jun 14.

 

Konrad E, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, Shuss C, Ziegler A, Bonneau D, Kempers M, Pfundt R, Legius E, Bouman A, Sturrman K, Ounap K, Pajusalu S, Wojcik M, Vasileiou G, Le Guyader G, Schnelle HM, Berland S, Zonneveld-Huijssoon E, Kersten S, Gupta A, Blackburn PR, Elligson MS, Ferber MJ, Dhamija R, Klee EW, McEntagart M, Lichtenbelt KD, Kenney A, Vergano SA, Abou Jamra R, Platzer K, Pierpont E, Khattar D, Hopkin RJ, Martin RJ, Jongmans M, , Martinez-Agosto JA, Kuismin O, Kurki MI, Pietilainen O, Palotie A, Maarup TJ, Johnson DS, Pedersen KV, Laulund LW, Lynch SA, Blyth M, Prescott K, Canham N, Ibitoye R, Brilstra EH, Shinawi M, Fassi E, DDD Study, Sticht H, Gregor A, Shinawi M, Zweier C. CTCF variants in 39 individuals with a variable neurodevelopment disorder broaden the mutational and clinical spectrum. Genet Med. 2019 Jun 26.

 

Strobel KM, Crane JN, Bradford KL, Naeini Y, May WA, . Burkitt-like Lymphoma in a Pediatric Patient with Familial Adenomatosis Polyposis. Cancer Genetics. 2019 Sep 4;239:33-35. 

 

Klein SD, Nguyen D, Bhakta V, Wong D, , Davidson TB, Martinez-Agosto J. Mutations in the Sonic Hedgehog Pathway Cause Macrocephaly-associated conditions due to cross talk to the PI3K/AKT/mTOR pathway. . 2019 Oct 22. doi: 10.1002/ajmg.a.61368.

Crane JN, , Yong WH, Salamon N, Lee H, Kianmahd J, Dorrani N, Martinez-Agosto JA, Davidson TA. A case report of a novel germline  mutation in sonic hedgehog activated medulloblastoma. AJMG Part A. 2019 Dec 2. 

 

Fang T, Zhang Y, , Roos M, Termini CM, Signaevskaia L, Quarmyne M, Lin PK, Pang A, Kan J, Yan X, Javier A, Pohl K, Zhao L, Scott P, Himburg H, Chute JP. Epidermal growth factor receptor – dependent DNA repair promotes murine and human hematopoietic regeneration. Blood. 2020 July 5. 

Chenbhanich J, Hu Y, Hetts S, Cooke D, Dowd C, Devine P, UCLA Clinical Genomics Center, Russell B, Kang SH, Chang VY, Cornett P, Yeh I, Lee H, Martinez-Agosto JA, Frieden IJ, Shieh JT. Segmental Overgrowth and Aneurysms Due to Mosaic PDGFRB p.(Tyr562Cys). AJMG Part A. 2021 March 8.

 

Termini CM, Pang A, Fang T, Roos M, Chang VY, Zhang Y, Setiawan NJ, Signaevskaia L, Li M, Kim MM, Tabibi O, Lin PK, Sasine JP, Chatterjee A, Murali R, Himburg HA, Chute JP. Neuropilin 1 regulates bone marrow vascular regeneration and hematopoietic reconstitution. Nat Commun. 2021 Nov 30;12(1):6990.

 

Termini CM, Pang A, Li M, Fang T, Chang VY, Chute JP. Syndecan-2 expression enriches for hematopoietic stem cells and regulates stem cell repopulating capacity. Blood. 2022 Jan 13;139(2):188- 204.

 

Sugranes Thelma A, Flanagan M, Thomas C, Chang VY, Walsh M, Cunniff C. Age of First Cancer Diagnosis and Survival in Bloom Syndrome. Genetics in Medicine. 2022 Jul;24(7):1476-1484.

 

Thakkar MK, Lee J, Meyer S, Chang VY. RecQ Helicase Somatic Alterations in Cancer. Front Mol Biosci. 2022 Jun 15;9:887758.

 

White SL, Lee TD, Toy T, Carroll JE, Polsky L, Fernandez BC, Davila A, Kohn BD, Chang VY. Evaluation of Clonal Hematopoiesis in Pediatric ADA-SCID Gene Therapy Participants. Blood Adv. 2022 Nov 8;6(21):5732-5736.

 

Chang VY, Munson M, Termini T. Approaches to address bias in letters of recommendation. Trends in Pharmacological Sciences. 2023 Jun;44(6):321-323.

 

Na B, Wang AC, Watterson CT, Martinez-Agosto J, Saitta S, Dutra-Clarke M, Bhansali F, Pineles SL, Chang VY, Shah VS, De Blank P. An unusual presentation of bilateral optic pathway glioma in Crouzon syndrome. Pediatr Hem and Onc. 2023 Jun 19;1-7.

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