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Homocysteine and MTHFR Mutations

Circulation (New York, N.Y.), 2015-07, Vol.132 (1), p.e6-e9

2015

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Germline Variant Interpretation in Children with Severe Sepsis

Journal of clinical immunology, 2023-02, Vol.43 (2), p.312-314

2023

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The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly

Genetics in medicine, 2009-02, Vol.11 (2), p.111-117

2009

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Thrombocytopenia Pitfalls: Misdiagnosing Type 2B von Willebrand Disease as Ethylenediaminetetraacetic Acid−Dependent Pseudothrombocytopenia

The Journal of pediatrics, 2016-08, Vol.175, p.238-238.e1

2016

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Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

Autism research, 2010-06, Vol.3 (3), p.137-141

2010

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A Novel Pathogenic Variant in CARMIL2 ( RLTPR ) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors

Frontiers in immunology, 2020-06, Vol.11, p.884

2020

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Cardiology patient pages. Homocysteine and MTHFR mutations: relation to thrombosis and coronary artery disease

Circulation (New York, N.Y.), 2005-05, Vol.111 (19), p.e289-e293

2005

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Direct‐to‐consumer genetic testing for factor V Leiden and prothrombin 20210G>A: the consumer experience

Molecular genetics & genomic medicine, 2020-11, Vol.8 (11), p.e1468-n/a

2020

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P183: Genome sequencing increases the diagnostic yield in exome-negative individuals with rare genetic disorders

Genetics in Medicine Open, 2024, Vol.2, p.101080

2024

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Deep Vein Thrombosis (DVT) and Pulmonary Embolism (PE): Awareness and Prophylaxis Practices Reported by Patients with Cancer

Cancer investigation, 2015-10, Vol.33 (9), p.405-410

2015

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Homocysteine and MTHFR Mutations: Relation to Thrombosis and Coronary Artery Disease

Circulation (New York, N.Y.), 2005-05, Vol.111 (19)

2005

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You Want to Do What? My Mother’s Choice to Have Direct-to-Consumer Genetic Testing

Journal of genetic counseling, 2012-06, Vol.21 (3), p.382-385

Varga, Elizabeth A.

2012

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MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature

Journal of genetic counseling, 2016-10, Vol.25 (5), p.901-911

2016

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Genetic counseling for inherited thrombophilias

Journal of thrombosis and thrombolysis, 2008-02, Vol.25 (1), p.6-9

Varga, Elizabeth A.

2008

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Prothrombin 20210 Mutation (Factor II Mutation)

Circulation (New York, N.Y.), 2004-07, Vol.110 (3)

2004

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Cardiology patient pages. Prothrombin 20210 mutation (factor II mutation)

Circulation (New York, N.Y.), 2004-07, Vol.110 (3), p.e15-e18

2004

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Social and ethical controversies in thrombophilia testing and update on genetic risk factors for venous thromboembolism

Seminars in thrombosis and hemostasis, 2008-09, Vol.34 (6), p.549

2008

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Contactin 4 as an autism susceptibility locus

Autism research, 2011-06, Vol.4 (3), p.189-199

2011

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Genetics in the context of thrombophilia

Journal of thrombosis and thrombolysis, 2008-02, Vol.25 (1), p.2-5

Varga, Elizabeth A.

2008

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PTPS-07COMPETING MOLECULAR GENETIC FORCES: TRISOMY 21(DOWN SYNDROME, DS) AND PTCH1 MUTATION (GORLIN SYNDROME) IN A 21 MONTH-OLD WITH SHH DESMOPLASTIC/NODULAR MEDULLOBLASTOMA

Neuro-oncology (Charlottesville, Va.), 2015-11, Vol.17 (suppl 5), p.v180.3-v180

2015

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Genetic Evaluation and Counseling of Couples with Recurrent Miscarriage: Recommendations of the National Society of Genetic Counselors

Journal of genetic counseling, 2005-06, Vol.14 (3), p.165-181

2005

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Inherited Thrombophilia: Key Points for Genetic Counseling

Journal of genetic counseling, 2007-06, Vol.16 (3), p.261-277

Varga, Elizabeth

2007

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Defining the role of a genetic counselor within pediatric hematology and oncology comprehensive care teams: Perspectives of the provider team and patients

Journal of genetic counseling, 2019-12, Vol.28 (6), p.1139-1147

2019

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Bilateral Burkitt Lymphoma of the Ovaries: A Report of a Case in a Child with Williams Syndrome

Case Reports in Medicine, 2011-01, Vol.2011, p.327263-4

2011

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34. Comprehensive genomic characterization of infantile cancers reveals high yield of therapeutically targetable alterations

Cancer genetics, 2023-11, Vol.278-279, p.11

2023

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Homocysteine and MTHFR Mutations

Germline Variant Interpretation in Children with Severe Sepsis

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly

Thrombocytopenia Pitfalls: Misdiagnosing Type 2B von Willebrand Disease as Ethylenediaminetetraacetic Acid−Dependent Pseudothrombocytopenia

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

A Novel Pathogenic Variant in CARMIL2 ( RLTPR ) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors

Cardiology patient pages. Homocysteine and MTHFR mutations: relation to thrombosis and coronary artery disease

Direct‐to‐consumer genetic testing for factor V Leiden and prothrombin 20210G>A: the consumer experience

P183: Genome sequencing increases the diagnostic yield in exome-negative individuals with rare genetic disorders

Deep Vein Thrombosis (DVT) and Pulmonary Embolism (PE): Awareness and Prophylaxis Practices Reported by Patients with Cancer

Homocysteine and MTHFR Mutations: Relation to Thrombosis and Coronary Artery Disease

You Want to Do What? My Mother’s Choice to Have Direct-to-Consumer Genetic Testing

MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature

Genetic counseling for inherited thrombophilias

Prothrombin 20210 Mutation (Factor II Mutation)

Cardiology patient pages. Prothrombin 20210 mutation (factor II mutation)

Social and ethical controversies in thrombophilia testing and update on genetic risk factors for venous thromboembolism

Contactin 4 as an autism susceptibility locus

Genetics in the context of thrombophilia

PTPS-07COMPETING MOLECULAR GENETIC FORCES: TRISOMY 21(DOWN SYNDROME, DS) AND PTCH1 MUTATION (GORLIN SYNDROME) IN A 21 MONTH-OLD WITH SHH DESMOPLASTIC/NODULAR MEDULLOBLASTOMA

Genetic Evaluation and Counseling of Couples with Recurrent Miscarriage: Recommendations of the National Society of Genetic Counselors

Inherited Thrombophilia: Key Points for Genetic Counseling

Defining the role of a genetic counselor within pediatric hematology and oncology comprehensive care teams: Perspectives of the provider team and patients

Bilateral Burkitt Lymphoma of the Ovaries: A Report of a Case in a Child with Williams Syndrome

34. Comprehensive genomic characterization of infantile cancers reveals high yield of therapeutically targetable alterations

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