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AML with germline DDX41 variants is a clinicopathologically distinct entity with an indolent clinical course and favorable outcome

Leukemia, 2022-03, Vol.36 (3), p.664-674

2022

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Non-Melanoma Skin Cancers and Other Cutaneous Manifestations in Bone Marrow Failure Syndromes and Rare DNA Repair Disorders

Frontiers in oncology, 2022-03, Vol.12, p.837059-837059

2022

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Genetic Predisposition to Sarcoma: What Should Clinicians Know?

Current treatment options in oncology, 2024-06, Vol.25 (6), p.769-783

2024

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“Being proactive, not reactive”: exploring perceptions of genetic testing among White, Latinx, and Pacific Islander Populations

Journal of community genetics, 2021-10, Vol.12 (4), p.617-630

2021

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Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

NPJ precision oncology, 2020-02, Vol.4 (1), p.4-4, Article 4

2020

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Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series

Clinical case reports, 2022-03, Vol.10 (3), p.e05513-n/a

2022

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Patient With Questions About Cancer Risk

Journal for nurse practitioners, 2020-07, Vol.16 (7), p.e109,e111-e110,e112

2020

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The genetic landscape of germline DDX41 variants predisposing to myeloid neoplasms

Blood, 2022-08, Vol.140 (7), p.716-755

2022

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Two Clonally Distinct B-Cell Lymphomas Reveal the Diagnosis of XLP1 in a Male Child and His Asymptomatic Male Relatives: Case Report and Review of the Literature

Journal of pediatric hematology/oncology, 2021-11, Vol.43 (8), p.e1210-e1213

2021

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Disease Characteristics of AML Patients with Germline DDX41 Variants

Blood, 2021-11, Vol.138 (Supplement 1), p.3384-3384

2021

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Development of a Comprehensive Program for Evaluation of Hereditary Predisposition to Hematologic Malignancies

Blood, 2022-11, Vol.140 (Supplement 1), p.11468-11470

2022

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Severe congenital neutropenia, SRP54 pathogenicity, and a framework for surveillance

American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1434-1441

2023

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Case series examining somatic test results for patients with hereditary cancer syndromes associated with gastrointestinal cancer risk

Journal of clinical oncology, 2020-02, Vol.38 (4_suppl), p.680-680

2020

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Genome‐wide uniparental disomy as a mechanism of immune escape in acquired aplastic anaemia

British journal of haematology, 2022-09, Vol.198 (6), p.e78-e81

2022

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Germline predisposition to soft tissue sarcoma

Journal of cancer metastasis and treatment, 2022, Vol.8, p.31

2022

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BRCA1/2 Variants Identified Through Tumor Genomic Profiling: Assessing Genetic Counseling Outcomes

JCO precision oncology, 2022-10, Vol.6 (6), p.e2100375

2022

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Lung Cancer in Li-Fraumeni Syndrome

JCO precision oncology, 2021, Vol.5 (5), p.552-556

2021

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Early Presentation of Homozygous Mismatch Repair Deficient Glioblastoma in Teen With Lynch Syndrome: Implications for Treatment and Surveillance

JCO precision oncology, 2021-11, Vol.5 (5), p.670-675

2021

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Abstract IA004: Risk of therapy-related subsequent cancers in individuals with germline TP53 variants

Cancer research (Chicago, Ill.), 2024-09, Vol.84 (17_Supplement), p.IA004-IA004

2024

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Comparison of Somatic and Germline Variant Interpretation in Hereditary Cancer Genes

JCO precision oncology, 2019-12 (3), p.1-8

2019

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DNA Damage Repair (DDR) Mutations and the Utility of High-Risk Genetics Clinics in Metastatic Castration-Refractory Prostate Cancer (mCRPC)

World journal of oncology, 2018-08, Vol.9 (4), p.119-122

2018

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Abstract 5901: Germline tissue sequencing in patients with solid tumors uncovers clonal hematopoiesis variants

Cancer research (Chicago, Ill.), 2022-06, Vol.82 (12_Supplement), p.5901-5901

2022

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Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

NPJ precision oncology, 2020-02, Vol.4 (1), p.4

2020

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Atypical Presentation of Shwachman-Diamond Syndrome in Three Brothers

International Journal of Cancer Care and Delivery, 2021-10, Vol.1 (Supplement 1)

2021

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AML with germline DDX41 variants is a clinicopathologically distinct entity with an indolent clinical course and favorable outcome

Non-Melanoma Skin Cancers and Other Cutaneous Manifestations in Bone Marrow Failure Syndromes and Rare DNA Repair Disorders

Genetic Predisposition to Sarcoma: What Should Clinicians Know?

“Being proactive, not reactive”: exploring perceptions of genetic testing among White, Latinx, and Pacific Islander Populations

Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series

Patient With Questions About Cancer Risk

The genetic landscape of germline DDX41 variants predisposing to myeloid neoplasms

Two Clonally Distinct B-Cell Lymphomas Reveal the Diagnosis of XLP1 in a Male Child and His Asymptomatic Male Relatives: Case Report and Review of the Literature

Disease Characteristics of AML Patients with Germline DDX41 Variants

Development of a Comprehensive Program for Evaluation of Hereditary Predisposition to Hematologic Malignancies

Inherited TP53 Variants and Risk of Prostate Cancer

Severe congenital neutropenia, SRP54 pathogenicity, and a framework for surveillance

Case series examining somatic test results for patients with hereditary cancer syndromes associated with gastrointestinal cancer risk

Genome‐wide uniparental disomy as a mechanism of immune escape in acquired aplastic anaemia

Germline predisposition to soft tissue sarcoma

BRCA1/2 Variants Identified Through Tumor Genomic Profiling: Assessing Genetic Counseling Outcomes

Lung Cancer in Li-Fraumeni Syndrome

Early Presentation of Homozygous Mismatch Repair Deficient Glioblastoma in Teen With Lynch Syndrome: Implications for Treatment and Surveillance

Abstract IA004: Risk of therapy-related subsequent cancers in individuals with germline TP53 variants

Comparison of Somatic and Germline Variant Interpretation in Hereditary Cancer Genes

DNA Damage Repair (DDR) Mutations and the Utility of High-Risk Genetics Clinics in Metastatic Castration-Refractory Prostate Cancer (mCRPC)

Abstract 5901: Germline tissue sequencing in patients with solid tumors uncovers clonal hematopoiesis variants

Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

Atypical Presentation of Shwachman-Diamond Syndrome in Three Brothers

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