Search Results - "Reshmi SC"

Epithelioid Fibrous Histiocytoma With an ETV6::NTRK3 Fusion in a Child: A Case Expanding the Spectrum of Receptor-Tyrosine Kinase Driven Epithelioid Fibrous Histiocytoma.

Authors: Challa B Naous R Kirschner R et al.

Source: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society [Pediatr Dev Pathol] 2026 May 05, pp. 10935266261446773. Date of Electronic Publication: 2026 May 05.

Publication Type: Journal Article

Journal Info: Publisher: SAGE Publishing Country of Publication: United States NLM ID: 9809673 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1615-5742 (Electronic) Linking ISSN: 10935266 NLM ISO Abbreviation: Pediatr Dev Pathol Subsets: MEDLINE

ZMIZ1::ABL1 Fusion: An Uncommon Molecular Event With Clinical Implications in Pediatric Cancer.

Authors: Booth KTA Schulte RR Smith L et al.

Source: Archives of pathology & laboratory medicine [Arch Pathol Lab Med] 2025 Feb 01; Vol. 149 (2), pp. 159-164.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: College of American Pathologists Country of Publication: United States NLM ID: 7607091 Publication Model: Print Cited Medium: Internet ISSN: 1543-2165 (Electronic) Linking ISSN: 00039985 NLM ISO Abbreviation: Arch Pathol Lab Med Subsets: MEDLINE

Sequential Combination of Unfavorable Histology, Followed by Clinical Stage M, Defines High-Risk Neuroblastoma: A Report from the Children's Oncology Group.

Authors: Hazard FK Toland AMS Tan SY et al.

Source: Clinical cancer research : an official journal of the American Association for Cancer Research [Clin Cancer Res] 2026 Jan 06; Vol. 32 (1), pp. 127-134.

Publication Type: Journal Article

Journal Info: Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 9502500 Publication Model: Print Cited Medium: Internet ISSN: 1557-3265 (Electronic) Linking ISSN: 10780432 NLM ISO Abbreviation: Clin Cancer Res Subsets: MEDLINE

Familial 22q11.2 Duplication/Deletion Syndrome: A Testament to the Long-Standing Clinical Utility of FISH.

Authors: Bryant LM Hokanson R Hickey SE et al.

Source: Clinical case reports [Clin Case Rep] 2025 Nov 14; Vol. 13 (11), pp. e71483. Date of Electronic Publication: 2025 Nov 14 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: John Wiley & Sons Country of Publication: England NLM ID: 101620385 Publication Model: eCollection Cited Medium: Print ISSN: 2050-0904 (Print) Linking ISSN: 20500904 NLM ISO Abbreviation: Clin Case Rep Subsets: PubMed not MEDLINE

Blinatumomab in Standard-Risk B-Cell Acute Lymphoblastic Leukemia in Children.

Authors: Gupta S Rau RE Kairalla JA et al.

Source: The New England journal of medicine [N Engl J Med] 2025 Feb 27; Vol. 392 (9), pp. 875-891. Date of Electronic Publication: 2024 Dec 07.

Publication Type: Journal Article; Randomized Controlled Trial; Clinical Trial, Phase III; Multicenter Study

Journal Info: Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE

Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.

Authors: Hunter JM Massingham LJ Manickam K et al.

Source: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2022 Mar 24; Vol. 8 (2). Date of Electronic Publication: 2022 Mar 24 (Print Publication: 2022).

Publication Type: Journal Article

Journal Info: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101660017 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2373-2873 (Electronic) Linking ISSN: 23732873 NLM ISO Abbreviation: Cold Spring Harb Mol Case Stud Subsets: MEDLINE

Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.

Authors: Bhat S Rousseau J Michaud C et al.

Source: American journal of human genetics [Am J Hum Genet] 2024 Apr 04; Vol. 111 (4), pp. 761-777. Date of Electronic Publication: 2024 Mar 18.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Enhanced Risk Stratification for Children and Young Adults with B-Cell Acute Lymphoblastic Leukemia: A Children's Oncology Group Report.

Authors: DelRocco NJ Loh ML Borowitz MJ et al.

Source: Leukemia [Leukemia] 2024 Apr; Vol. 38 (4), pp. 720-728. Date of Electronic Publication: 2024 Feb 15.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

Journal Info: Publisher: Nature Publishing Group, Specialist Journals Country of Publication: England NLM ID: 8704895 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5551 (Electronic) Linking ISSN: 08876924 NLM ISO Abbreviation: Leukemia Subsets: MEDLINE

Immune Reconstitution after Hematopoietic Stem Cell Transplantation in Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1.

Authors: Kraft MT Mehyar LS Prince BT et al.

Source: Journal of clinical immunology [J Clin Immunol] 2021 Jul; Vol. 41 (5), pp. 1089-1094. Date of Electronic Publication: 2021 Feb 05.

Publication Type: Case Reports; Letter

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE

Outcomes in Children, Adolescents, and Young Adults With Down Syndrome and ALL: A Report From the Children's Oncology Group.

Authors: Rabin KR Devidas M Chen Z et al.

Source: Journal of clinical oncology : official journal of the American Society of Clinical Oncology [J Clin Oncol] 2024 Jan 10; Vol. 42 (2), pp. 218-227. Date of Electronic Publication: 2023 Oct 27.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: American Society of Clinical Oncology Country of Publication: United States NLM ID: 8309333 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1527-7755 (Electronic) Linking ISSN: 0732183X NLM ISO Abbreviation: J Clin Oncol Subsets: MEDLINE

Expanding the Clinical Utility of Targeted RNA Sequencing Panels beyond Gene Fusions to Complex, Intragenic Structural Rearrangements.

Authors: Schieffer KM Moccia A Bucknor BA et al.

Source: Cancers [Cancers (Basel)] 2023 Sep 02; Vol. 15 (17). Date of Electronic Publication: 2023 Sep 02.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101526829 Publication Model: Electronic Cited Medium: Print ISSN: 2072-6694 (Print) Linking ISSN: 20726694 NLM ISO Abbreviation: Cancers (Basel) Subsets: PubMed not MEDLINE

Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.

Authors: Miller CR Lee K Pfau RB et al.

Source: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2020 Jun 12; Vol. 6 (3). Date of Electronic Publication: 2020 Jun 12 (Print Publication: 2020).

Publication Type: Journal Article

Journal Info: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101660017 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2373-2873 (Electronic) Linking ISSN: 23732873 NLM ISO Abbreviation: Cold Spring Harb Mol Case Stud Subsets: MEDLINE

Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors.

Authors: Bennett JS Bernhardt M McBride KL et al.

Source: Pediatric cardiology [Pediatr Cardiol] 2019 Dec; Vol. 40 (8), pp. 1679-1687. Date of Electronic Publication: 2019 Sep 18.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: United States NLM ID: 8003849 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1971 (Electronic) Linking ISSN: 01720643 NLM ISO Abbreviation: Pediatr Cardiol Subsets: MEDLINE

Dasatinib with intensive chemotherapy in de novo paediatric Philadelphia chromosome-positive acute lymphoblastic leukaemia (CA180-372/COG AALL1122): a single-arm, multicentre, phase 2 trial.

Authors: Hunger SP Tran TH Saha V et al.

Source: The Lancet. Haematology [Lancet Haematol] 2023 Jul; Vol. 10 (7), pp. e510-e520.

Publication Type: Clinical Trial, Phase II; Multicenter Study; Journal Article

Journal Info: Publisher: Elsevier Ltd Country of Publication: England NLM ID: 101643584 Publication Model: Print Cited Medium: Internet ISSN: 2352-3026 (Electronic) Linking ISSN: 23523026 NLM ISO Abbreviation: Lancet Haematol Subsets: MEDLINE

The genomic landscape of pediatric acute lymphoblastic leukemia.

Authors: Brady SW Roberts KG Gu Z et al.

Source: Nature genetics [Nat Genet] 2022 Sep; Vol. 54 (9), pp. 1376-1389. Date of Electronic Publication: 2022 Sep 01.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Noncoding genetic variation in GATA3 increases acute lymphoblastic leukemia risk through local and global changes in chromatin conformation.

Authors: Yang H Zhang H Luan Y et al.

Source: Nature genetics [Nat Genet] 2022 Feb; Vol. 54 (2), pp. 170-179. Date of Electronic Publication: 2022 Feb 03.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.

Authors: Santoro SL Hashimoto S McKinney A et al.

Source: Cytogenetic and genome research [Cytogenet Genome Res] 2017; Vol. 152 (2), pp. 105-109. Date of Electronic Publication: 2017 Jul 27.

Publication Type: Journal Article

Journal Info: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101142708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1424-859X (Electronic) Linking ISSN: 14248581 NLM ISO Abbreviation: Cytogenet Genome Res Subsets: MEDLINE

Genomic analyses identify recurrent MEF2D fusions in acute lymphoblastic leukaemia.

Authors: Gu Z Churchman M Roberts K et al.

Source: Nature communications [Nat Commun] 2016 Nov 08; Vol. 7, pp. 13331. Date of Electronic Publication: 2016 Nov 08.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

5' ALK Amplification in Neuroblastoma: A Case Report.

Authors: Akhavanfard S Nohr E AlNajjar M et al.

Source: Case reports in oncology [Case Rep Oncol] 2021 Mar 23; Vol. 14 (1), pp. 585-591. Date of Electronic Publication: 2021 Mar 23 (Print Publication: 2021).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Karger Country of Publication: Switzerland NLM ID: 101517601 Publication Model: eCollection Cited Medium: Print ISSN: 1662-6575 (Print) Linking ISSN: 16626575 NLM ISO Abbreviation: Case Rep Oncol Subsets: PubMed not MEDLINE

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.

Authors: Motta M Pannone L Pantaleoni F et al.

Source: American journal of human genetics [Am J Hum Genet] 2020 Sep 03; Vol. 107 (3), pp. 499-513. Date of Electronic Publication: 2020 Jul 27.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE