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Bojana Pencheva

Explore the profile of Bojana Pencheva including associated specialties, affiliations and a list of published articles. Areas
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Articles 10
Citations 24
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Recent Articles
1.
Frost E, Youngblood L, Hammers Y, Fitch T, Pencheva B, Chandrakasan S
J Clin Immunol . 2024 Nov; 45(1):44. PMID: 39556125
No abstract available.
2.
Stewart B, Helber H, Bannon S, Deuitch N, Ferguson M, Fiala E, et al.
J Genet Couns . 2024 Aug; 34(2):e1959. PMID: 39189353
Hematologic malignancies (HMs) are a heterogeneous group of cancers impacting individuals of all ages that have been increasingly recognized in association with various germline predisposition syndromes. Given the myriad of...
3.
Ercan A, Aronson M, Fernandez N, Chang Y, Levine A, Liu Z, et al.
Lancet Oncol . 2024 Mar; 25(5):668-682. PMID: 38552658
Background: Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare and aggressive cancer predisposition syndrome. Because a scarcity of data on this condition contributes to management challenges and poor outcomes,...
4.
Fain M, Raghunandan S, Pencheva B, Leu R, Kasi A
J Clin Sleep Med . 2023 Oct; 20(3):478-481. PMID: 37861394
Citation: Fain ME, Raghunandan S, Pencheva B, Leu RM, Kasi AS. Images: atypical presentation of congenital central hypoventilation syndrome in an infant with central and obstructive sleep apnea. . 2024;20(3):478-481.
5.
Arconada Alvarez S, Pencheva B, Westfall E, Mwalija C, Parsell M, Greenleaf M, et al.
Pediatr Blood Cancer . 2023 Jul; 70(10):e30537. PMID: 37415085
Background: At least 5%-10% of malignancies occur secondary to an underlying cancer predisposition syndrome (CPS). For these families, cancer surveillance is recommended with the goal of identifying malignancy earlier, in...
6.
Murphey K, George P, Pencheva B, Porter C, Burns Wechsler S, Gambello M, et al.
Am J Med Genet A . 2022 Jul; 188(9):2707-2711. PMID: 35785415
D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare neurometabolic disease with two main subtypes, caused by either inactivating variants in D2HGDH (type I) or germline gain of function variants in IDH2 (type...
7.
Summers R, Castellino S, Porter C, MacDonald T, Basu G, Szelinger S, et al.
JCO Precis Oncol . 2022 May; 6:e2100451. PMID: 35544730
Purpose: Profiling of pediatric cancers through deep sequencing of large gene panels and whole exomes is rapidly being adopted in many clinical settings. However, the most impactful approach to genomic...
8.
Janardan S, Pencheva B, Ross A, Karpen H, Rytting H, Batsuli G
Pediatrics . 2021 Nov; 148(6). PMID: 34814161
Severe combined immunodeficiency (SCID) consists of a group of disorders defined by abnormal B and T cell development that typically results in death within the first year of life if...
9.
Mitchell S, Pencheva B, Westfall E, Porter C
Clin Perinatol . 2021 Feb; 48(1):1-14. PMID: 33583498
Pediatric cancer is rare, and malignancy during the neonatal period even rarer. However, several malignancies can present in infancy, most commonly in the form of solid tumors. Specific cancer types,...
10.
Mitchell S, Pencheva B, Porter C
Curr Oncol Rep . 2019 Aug; 21(10):85. PMID: 31414239
Purpose Of Review: Germline genetic variants contribute to a substantial proportion of cases of cancer in childhood. The purpose of this review is to describe two emerging pediatric cancer predisposition...