S. Reshmi

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Non-coding germline GATA3 variants alter chromatin topology and contribute to pathogenesis of acute lymphoblastic leukemia

M. Loh, M. Relling, C. Pui, 2020, bioRxiv.

Outcome modeling with CRLF2, IKZF1, JAK, and minimal residual disease in pediatric acute lymphoblastic leukemia: a Children's Oncology Group study.

M. Loh, J. Gastier-Foster, C. Mullighan, 2012, Blood.

Oncology Group Study disease in pediatric acute lymphoblastic leukemia: a Children's , and minimal residual

M. Loh, J. Gastier-Foster, C. Mullighan, 2012 .

Outcome modeling with CRLF 2 , IKZF 1 , JAK , and minimal residual disease in pediatric acute lymphoblastic leukemia : a Children ’ s Oncology Group Study

M. Loh, J. Gastier-Foster, C. Mullighan, 2012 .

Variant three-way translocation of inversion 16 in AML-M4Eo confirmed by fluorescence in situ hybridization analysis.

J. Rowley, E. Vizcarra, I. Marugán, 1999, Cancer genetics and cytogenetics.

PAX5-driven subtypes of B-progenitor acute lymphoblastic leukemia

Ashley D. Hill, M. Loh, J. Downing, 2019, Nature Genetics.

Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster

J. Gastier-Foster, R. Pyatt, K. McBride, 2013, European Journal of Human Genetics.

A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties.

Austin A. Antoniou, N. Navin, K. McBride, 2022, The Journal of molecular diagnostics : JMD.

Truncating Erythropoietin Receptor Rearrangements in Acute Lymphoblastic Leukemia.

M. Loh, J. Downing, J. McPherson, 2016, Cancer cell.

All patients with the T(11;16)(q23;p13.3) that involves MLL and CBP have treatment-related hematologic disorders.

F. Behm, S. Raimondi, J. Rowley, 1997, Blood.

The genomic landscape of pediatric acute lymphoblastic leukemia

Diane A. Flasch, Samuel W. Brady, Michael C. Rusch, 2022, Nature Genetics.

Identification of complex genomic breakpoint junctions in the t(9;11) MLL-AF9 fusion gene in acute leukemia.

B. Roe, J. Rowley, N. Zeleznik-Le, 1997, Genes, chromosomes & cancer.

Standardisation and consensus guidelines for minimal residual disease assessment in Philadelphia-positive acute lymphoblastic leukemia (Ph + ALL) by real-time quantitative reverse transcriptase PCR of e1a2 BCR-ABL1

J. Cayuela, V. V. D. van der Velden, T. Lion, 2019, Leukemia.

5′ ALK Amplification in Neuroblastoma: A Case Report

S. Akhavanfard, S. Hashimoto, M. Brundler, 2021, Case Reports in Oncology.

Masked Hypodiploidy: Hypodiploid Acute Lymphoblastic Leukemia (ALL) in Children Mimicking Hyperdiploid ALL: A Report From the Children's Oncology Group (COG) AALL03B1 Study.

M. Loh, J. Gastier-Foster, N. Heerema, 2009 .

Development and Validation Of a Highly Sensitive and Specific Gene Expression Classifier To Prospectively Screen and Identify B-Precursor Acute Lymphoblastic Leukemia (ALL) Patients With a Philadelphia Chromosome-Like (“Ph-like” or “BCR-ABL1-Like”) Signature For Therapeutic Targeting and Clinical In

Michael C. Rusch, M. Loh, D. Gerhard, 2013 .

High Incidence of Philadelphia Chromosome-Like Acute Lymphoblastic Leukemia (Ph-like ALL) in Older Adults with B-ALL

Marilyn M. Li, G. Wertheim, M. Carroll, 2016, Leukemia.

Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization

J. Gastier-Foster, J. Mendell, R. Pyatt, 2010, American journal of medical genetics. Part A.

Prognostic impact of kinase-activating fusions and IKZF1 deletions in pediatric high-risk B-lineage acute lymphoblastic leukemia.

M. Loh, D. Neuberg, S. Sallan, 2018, Blood advances.

Novel diagnostic features of dysferlinopathies

J. Gastier-Foster, J. Mendell, R. Pyatt, 2010, Muscle & nerve.

Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia.

Heather L. Mulder, Erin K. Hedlund, Michael C. Rusch, 2014, The New England journal of medicine.

Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant.

J. Gastier-Foster, R. Pyatt, S. Hashimoto, 2018, European journal of medical genetics.

MLL is involved in a t(2;11)(p21;q23) in a patient with acute myeloblastic leukemia

J. Rowley, S. Reshmi, L. Konstantinova, 1999, Genes, chromosomes & cancer.

Revised Neuroblastoma Risk Classification System: A Report From the Children's Oncology Group

A. Naranjo, J. Gastier-Foster, J. Maris, 2021, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Microarray comparative genomic hybridization and cytogenetic characterization of tissue‐specific mosaicism in three patients

J. Gastier-Foster, T. Slavin, R. Pyatt, 2012, American journal of medical genetics. Part A.

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

M. Loh, M. Relling, C. Pui, 2022, Nature Genetics.

Chromosomal instability and marker chromosome evolution in oral squamous cell carcinoma

S. Gollin, W. Saunders, S. Reshmi, 2004, Genes, chromosomes & cancer.

Spectral karyotype analysis of T-cell acute leukemia.

J. Rowley, D. Roulston, S. Reshmi, 1999, Blood.

Genomic analysis of adult B-ALL identifies potential markers of shorter survival.

Lauren B. Smith, S. South, J. Gastier-Foster, 2017, Leukemia research.

MLL is fused to CBP, a histone acetyltransferase, in therapy-related acute myeloid leukemia with a t(11;16)(q23;p13.3).

D. Housman, J. Rowley, N. Zeleznik-Le, 1997, Proceedings of the National Academy of Sciences of the United States of America.

Increased karyotype precision using fluorescence in situ hybridization and spectral karyotyping in patients with myeloid malignancies.

O. P. Kirichenko, J. Rowley, S. Reshmi, 1999, Cancer genetics and cytogenetics.

Variability in pathogenicity prediction programs: impact on clinical diagnostics

Sayaka Hashimoto, Lauren C Walters-Sen, Devon Lamb Thrush, 2014, Molecular genetics & genomic medicine.

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

W. Chung, Q. Waisfisz, B. Gelb, 2020, American journal of human genetics.

Inverted duplication pattern in anaphase bridges confirms the breakage-fusion-bridge (BFB) cycle model for 11q13 amplification

E. Feingold, W. Saunders, S. Reshmi, 2007, Cytogenetic and Genome Research.

A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocation.

J. Gastier-Foster, J. Atkin, S. Hickey, 2013, European journal of medical genetics.

Chromosomal imbalances in oral squamous cell carcinoma: examination of 31 cell lines and review of the literature.

Thomas Ried, Christa Lese Martin, C. Martin, 2008, Oral oncology.

MECHANISMS LEADING TO CHROMOSOMAL INSTABILITY IN ORAL CANCER CELLS

S. Reshmi, 2005 .

Chromosomal Instability in Oral Cancer Cells

S. Gollin, S. Reshmi, S. Gollin, 2005, Journal of dental research.

Genomic and outcome analyses of Ph-like ALL in NCI standard-risk patients: a report from the Children's Oncology Group.

M. Loh, J. Gastier-Foster, N. Heerema, 2018, Blood.

Genomic analyses identify recurrent MEF2D fusions in acute lymphoblastic leukaemia

Guido Marcucci, Marco Marra, Zhaohui Gu, 2016, Nature Communications.

Relationship between FRA11F and 11q13 gene amplification in oral cancer

S. Gollin, W. Saunders, Xin Huang, 2007, Genes, Chromosomes and Cancer.

Targetable kinase gene fusions in high-risk B-ALL: a study from the Children's Oncology Group.

M. Loh, J. Gastier-Foster, N. Heerema, 2017, Blood.

Identification of complex genomic breakpoint junctions in the t(9;11) MLL‐AF9 fusion gene in acute leukemia

B. Roe, J. Rowley, N. Zeleznik-Le, 1997 .

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

R. Wilson, E. Mardis, D. Koboldt, 2020, Cold Spring Harbor molecular case studies.

Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization.

J. Rosenfeld, L. Shaffer, J. Gastier-Foster, 2013, Forensic science international. Genetics.

Heterogeneity in the breakpoints in balanced rearrangements involving band 12p13 in hematologic malignancies identified by fluorescence in situ hybridization: TEL (ETV6 ) is involved in only one half.

R. Kucherlapati, J. Rowley, S. Bohlander, 1997, Blood.

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

M. Kraft, S. Reshmi, R. Abraham, 2021, Journal of Clinical Immunology.

Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.

J. Gastier-Foster, R. Pyatt, S. Hashimoto, 2014, European journal of medical genetics.

12q14 microdeletion associated with HMGA2 gene disruption and growth restriction

J. Gastier-Foster, R. Pyatt, S. Reshmi, 2012, American Journal of Medical Genetics. Part A.

Mapping and analysis of HPV16 integration sites in a head and neck cancer cell line

S. Gollin, C. Ragin, S. Reshmi, 2004, International journal of cancer.

Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype.

S. Schwartz, E. Littlejohn, D. Waggoner, 2011, European journal of medical genetics.

Deletion 6q is not a characteristic marker of nodal lymphoplasmacytic lymphoma.

Xin Huang, Shalini Reshmi, S. Swerdlow, 2005, Cancer genetics and cytogenetics.

PAX5-driven subtypes of B-progenitor acute lymphoblastic leukemia

Ashley D. Hill, M. Loh, J. Downing, 2019, Nature Genetics.

Cytogenetic and genetic pathways in therapy-related acute myeloid leukemia.

R. Larson, M. L. Le Beau, David J. Young, 2010, Chemico-biological interactions.

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

R. Wilson, D. Koboldt, D. Bartholomew, 2022, Cold Spring Harbor molecular case studies.

Loss of DNA Polymerase ζ Causes Chromosomal Instability in Mammalian Cells

R. Wood, S. Gollin, S. Reshmi, 2006 .

Loss of DNA polymerase zeta causes chromosomal instability in mammalian cells.

R. Wood, S. Gollin, S. Reshmi, 2006, Cancer research.

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

E. Zmuda, K. McBride, S. Fitzgerald-Butt, 2019, Pediatric Cardiology.

Outcomes of Patients with CRLF2-Overexpressing Acute Lymphoblastic Leukemia without Down Syndrome: A Report from the Children's Oncology Group

M. Loh, J. Gastier-Foster, N. Heerema, 2020 .

A Phase 2 Study of Ruxolitinib with Chemotherapy in Children with Philadelphia Chromosome-like Acute Lymphoblastic Leukemia (AALL1521/INCB18424-269): Biologic Characteristics and Minimal Residual Disease Response of Patients with Non-CRLF2-Rearranged JAK Pathway Alterations

M. Loh, B. Wood, S. Hunger, 2022, Blood.

CA180-372: An International Collaborative Phase 2 Trial of Dasatinib and Chemotherapy in Pediatric Patients with Newly Diagnosed Philadelphia Chromosome Positive Acute Lymphoblastic Leukemia (Ph+ ALL)

M. Loh, N. Heerema, L. Silverman, 2017 .

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

R. Pyatt, S. Hashimoto, S. Santoro, 2017, Cytogenetic and Genome Research.

2010 Publications - The Biopathology Center

P. Stankiewicz, J. Gastier-Foster, J. Mendell, 2010 .

ytogenetic and genetic pathways in therapy-related acute myeloid leukemia

M. L. Beau, David J. Young, S. Reshmi, 2009 .

Impaired regeneration in LGMD2A supported by increased PAX7‐positive satellite cell content and muscle‐specific microrna dysregulation

J. Gastier-Foster, J. Mendell, R. Pyatt, 2013, Muscle & nerve.

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.

M. Loh, J. Gastier-Foster, N. Heerema, 2023, The Lancet. Haematology.

Janet Davison Rowley, M.D. (1925–2013).

S. Gollin, S. Reshmi, 2014, American Journal of Human Genetics.

Outcomes of Children, Adolescents, and Young Adults with Acute Lymphoblastic Leukemia Based on Blast Genotype at Diagnosis: A Report from the Children's Oncology Group

M. Loh, J. Gastier-Foster, N. Heerema, 2016 .