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Uniparental disomy of multiple chromosomes in two cases with a complex phenotype

American journal of medical genetics. Part A, 2023-07, Vol.191 (7), p.1978-1983

2023

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False-negative rates for MYC fluorescence in situ hybridization probes in B-cell neoplasms

Haematologica (Roma), 2019-06, Vol.104 (6), p.e248-e251

2019

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Combining copy number, methylation markers, and mutations as a panel for endometrial cancer detection via intravaginal tampon collection

Gynecologic oncology, 2020-02, Vol.156 (2), p.387-392

2020

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3q21 deletion affects GATA2 and is associated with myelodysplastic syndrome

British journal of haematology, 2022-02, Vol.196 (4), p.1120-1123

2022

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P815: Prenatal diagnosis of tetrasomy 21: Case reports

Genetics in Medicine Open, 2024, Vol.2, p.101723, Article 101723

2024

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Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld‐Rieger Syndrome

American journal of medical genetics. Part A, 2024-05, Vol.194 (5), p.e63542-n/a

2024

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Most noninvasive prenatal screens failing due to inadequate fetal cell free DNA are negative for trisomy when repeated

Prenatal diagnosis, 2020-06, Vol.40 (7), p.831-837

2020

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LPCAT1-TERT fusions are uniquely recurrent in epithelioid trophoblastic tumors and positively regulate cell growth

PloS one, 2021-05, Vol.16 (5), p.e0250518-e0250518

2021

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Characterization of unusual iAMP21 B‐lymphoblastic leukemia (iAMP21‐ALL) from the Mayo Clinic and Children's Oncology Group

Genes chromosomes & cancer, 2022-12, Vol.61 (12), p.710-719

2022

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P473: Potential clinical significance of microdeletions involving both MYH6 and MYH7

Genetics in Medicine Open, 2023, Vol.1 (1), p.100520, Article 100520

2023

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CNKSR2 deletions: A novel cause of X-linked intellectual disability and seizures

American journal of medical genetics. Part A, 2015-07, Vol.167A (7), p.1668-1670

2015

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Typical, atypical and cryptic t(15;17)(q24;q21) (PML::RARA) observed in acute promyelocytic leukemia: A retrospective review of 831 patients with concurrent chromosome and PML::RARA dual‐color dual‐fusion FISH studies

Genes chromosomes & cancer, 2022-10, Vol.61 (10), p.629-634

2022

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Limited diagnostic impact of duplications <1 Mb of uncertain clinical significance: a 10-year retrospective analysis of reporting practices at the Mayo Clinic

Genetics in medicine, 2020-12, Vol.22 (12), p.2120-2124

2020

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Acute leukemias harboring KMT2A/MLLT10 fusion: a 10‐year experience from a single genomics laboratory

Genes chromosomes & cancer, 2019-08, Vol.58 (8), p.567-577

2019

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An Integrated Approach Including CRISPR/Cas9-Mediated Nanopore Sequencing, Mate Pair Sequencing, and Cytogenomic Methods to Characterize Complex Structural Rearrangements in Acute Myeloid Leukemia

Biomedicines, 2024-03, Vol.12 (3), p.598

2024

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A near‐haploid clone harboring a BCR/ABL1 gene fusion in an adult patient with newly diagnosed B‐lymphoblastic leukemia

Genes chromosomes & cancer, 2019-09, Vol.58 (9), p.665-668

2019

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P665: Genome sequencing defines the breakpoints of a TP53 promoter region deletion required for the purpose of preimplantation genetic testing

Genetics in Medicine Open, 2024, Vol.2, p.101570, Article 101570

2024

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MYC break-apart FISH probe set reveals frequent unbalanced patterns of uncertain significance when evaluating aggressive B-cell lymphoma

Blood cancer journal (New York), 2021-11, Vol.11 (11), p.184-184, Article 184

2021

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Cryptic and atypical KMT2A‐USP2 and KMT2A‐USP8 rearrangements identified by mate pair sequencing in infant and childhood leukemia

Genes chromosomes & cancer, 2020-07, Vol.59 (7), p.422-427

2020

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SVAtools for junction detection of genome-wide chromosomal rearrangements by mate-pair sequencing (MPseq)

Cancer genetics, 2018-02, Vol.221, p.1-18

2018

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The Utilization of Chromosomal Microarray Technologies for Hematologic Neoplasms

American journal of clinical pathology, 2018-10, Vol.150 (5), p.375-384

2018

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Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia

European journal of haematology, 2019-01, Vol.102 (1), p.87-96

2019

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Prospective evaluation of genome sequencing to compare conventional cytogenetics in acute myeloid leukemia

Blood cancer journal (New York), 2023-09, Vol.13 (1), p.138-138, Article 138

2023

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Identification of a novel KMT2A/GIMAP8 gene fusion in a pediatric patient with acute undifferentiated leukemia

Genes chromosomes & cancer, 2021-02, Vol.60 (2), p.108-111

2021

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Use of mate-pair sequencing to characterize a complex cryptic BCR/ABL1 rearrangement observed in a newly diagnosed case of chronic myeloid leukemia

Human pathology, 2019-07, Vol.89, p.109-114

2019

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Uniparental disomy of multiple chromosomes in two cases with a complex phenotype

False-negative rates for MYC fluorescence in situ hybridization probes in B-cell neoplasms

Combining copy number, methylation markers, and mutations as a panel for endometrial cancer detection via intravaginal tampon collection

3q21 deletion affects GATA2 and is associated with myelodysplastic syndrome

P815: Prenatal diagnosis of tetrasomy 21: Case reports

Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld‐Rieger Syndrome

Most noninvasive prenatal screens failing due to inadequate fetal cell free DNA are negative for trisomy when repeated

LPCAT1-TERT fusions are uniquely recurrent in epithelioid trophoblastic tumors and positively regulate cell growth

Characterization of unusual iAMP21 B‐lymphoblastic leukemia (iAMP21‐ALL) from the Mayo Clinic and Children's Oncology Group

P473: Potential clinical significance of microdeletions involving both MYH6 and MYH7

CNKSR2 deletions: A novel cause of X-linked intellectual disability and seizures

Typical, atypical and cryptic t(15;17)(q24;q21) (PML::RARA) observed in acute promyelocytic leukemia: A retrospective review of 831 patients with concurrent chromosome and PML::RARA dual‐color dual‐fusion FISH studies

Limited diagnostic impact of duplications <1 Mb of uncertain clinical significance: a 10-year retrospective analysis of reporting practices at the Mayo Clinic

Acute leukemias harboring KMT2A/MLLT10 fusion: a 10‐year experience from a single genomics laboratory

An Integrated Approach Including CRISPR/Cas9-Mediated Nanopore Sequencing, Mate Pair Sequencing, and Cytogenomic Methods to Characterize Complex Structural Rearrangements in Acute Myeloid Leukemia

A near‐haploid clone harboring a BCR/ABL1 gene fusion in an adult patient with newly diagnosed B‐lymphoblastic leukemia

P665: Genome sequencing defines the breakpoints of a TP53 promoter region deletion required for the purpose of preimplantation genetic testing

MYC break-apart FISH probe set reveals frequent unbalanced patterns of uncertain significance when evaluating aggressive B-cell lymphoma

Cryptic and atypical KMT2A‐USP2 and KMT2A‐USP8 rearrangements identified by mate pair sequencing in infant and childhood leukemia

SVAtools for junction detection of genome-wide chromosomal rearrangements by mate-pair sequencing (MPseq)

The Utilization of Chromosomal Microarray Technologies for Hematologic Neoplasms

Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia

Prospective evaluation of genome sequencing to compare conventional cytogenetics in acute myeloid leukemia

Identification of a novel KMT2A/GIMAP8 gene fusion in a pediatric patient with acute undifferentiated leukemia

Use of mate-pair sequencing to characterize a complex cryptic BCR/ABL1 rearrangement observed in a newly diagnosed case of chronic myeloid leukemia

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