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Utilizing Multilingual Methods and Rapid Analysis for Global Qualitative Research During a Pandemic

Global qualitative nursing research, 2022-01, Vol.9, p.23333936221080969-23333936221080969

2022

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Pediatric Burkitt Leukemia with Underlying MSH2 , MUTYH and POT1 Germline Variants: The Complexities and Relevance of Understanding Cancer Predisposition

Blood, 2023-11, Vol.142 (Supplement 1), p.5674-5674

2023

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CBL Syndrome: At the Intersection of Inborn Error of Immunity and Cancer Predisposition

Clinical immunology (Orlando, Fla.), 2023-05, Vol.250, p.109564, Article 109564

2023

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Germline Biallelic Loss in MBD4 leading to Early Onset AML with Hyper-Mutator Genomic Signature

Blood, 2021-11, Vol.138 (Supplement 1), p.3385-3385

2021

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eP289: Non-cirrhotic portal hypertension: Expanding the phenotype of CBL syndrome-related vasculopathy

Genetics in medicine, 2022-03, Vol.24 (3), p.S183-S183

2022

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195 DHR-based Flow Cytometry Beyond CGD

Clinical immunology (Orlando, Fla.), 2024-05, Vol.262, p.110137, Article 110137

2024

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88 Practical Considerations regarding the Immune Dysregulation and Immunodeficiency in Down Syndrome

Clinical immunology (Orlando, Fla.), 2024-05, Vol.262, p.110030, Article 110030

2024

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Pediatric Cancer Screening in Hereditary Gastrointestinal Cancer Risk Syndromes: An Update from the AACR Childhood Cancer Predisposition Working Group

Clinical cancer research, 2024-09, p.OF1-OF6

2024

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Casgevy (exagamglogene autotemcel) and Lyfgenia (lovotibeglogene autotemcel) for individuals 12 years and older with sickle cell disease (SCD) and recurrent vaso-occlusive crises (VOC): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine Open, 2024-09, p.101875, Article 101875

2024

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Germline Gain-of-Function JAK3 Mutation in Familial Chronic Lymphoproliferative Disorder of NK Cells

Blood, 2020-11, Vol.136 (Supplement 1), p.9-10

2020

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Exceptional Complex Chromosomal Rearrangements in Three Generations

Case reports in genetics, 2015-01, Vol.2015 (2015), p.1-5

2015

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Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders

Clinical cancer research, 2024-09

2024

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Update on Recommendations for Surveillance for Children with Predisposition to Hematopoietic Malignancy

Clinical cancer research, 2024-08, p.OF1-OF10

2024

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Clinical Updates and Surveillance Recommendations for DNA Replication Repair Deficiency Syndromes in Children and Young Adults

Clinical cancer research, 2024-08, Vol.30 (16), p.3378-3387

2024

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Disease Modeling and Phenotype Rescue Using Inducible Pluripotent Stem Cells from Patients with Diamond-Blackfan Anemia

Blood, 2019-11, Vol.134 (Supplement_1), p.2496-2496

2019

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TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies

Journal of allergy and clinical immunology, 2023-09, Vol.152 (3), p.736-747

2023

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Correction: Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis

The Journal of experimental medicine, 2024-06, Vol.221 (6)

2024

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RGL2 Deficiency Impairs Human Erythropoiesis By Altering Terminal Erythroid Differentiation and Apoptosis

Blood, 2017-12, Vol.130 (Suppl_1), p.8-8

2017

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Clinical Application of Massively Parallel Sequencing in the Diagnosis of Hereditary Hemolytic and Dyserythropoietic Anemias

Blood, 2016-12, Vol.128 (22), p.4746-4746

2016

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Alu element insertion in PKLR gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients

Human mutation, 2018-03, Vol.39 (3), p.389-393

2018

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Communication transforms the impact of the COVID‐19 pandemic on children with cancer and their families

Cancer medicine (Malden, MA), 2023-06, Vol.12 (11), p.12813-12826

2023

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Alu-Element Insertion in Pklr Gene As a Novel Cause of Severe Hereditary Nonspherocytic Hemolytic Anemia

Blood, 2015-12, Vol.126 (23), p.3349-3349

2015

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Neonatal myocardial infarction in Williams–Beuren syndrome

Progress in pediatric cardiology, 2019-06, Vol.53, p.59-64

2019

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COVID-19 Pandemic and MSMEs in Indonesia: Impact and Policy Responses

Jurnal Ekonomi Indonesia, 2021-08, Vol.10 (2), p.143-171

2021

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Risk Factors and Ergonomic Influence on Musculoskeletal Disorders in the Work Environment

Journal La Medihealtico, 2024-08, Vol.5 (3), p.660-670

2024

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Utilizing Multilingual Methods and Rapid Analysis for Global Qualitative Research During a Pandemic

Pediatric Burkitt Leukemia with Underlying MSH2 , MUTYH and POT1 Germline Variants: The Complexities and Relevance of Understanding Cancer Predisposition

CBL Syndrome: At the Intersection of Inborn Error of Immunity and Cancer Predisposition

Germline Biallelic Loss in MBD4 leading to Early Onset AML with Hyper-Mutator Genomic Signature

eP289: Non-cirrhotic portal hypertension: Expanding the phenotype of CBL syndrome-related vasculopathy

195 DHR-based Flow Cytometry Beyond CGD

88 Practical Considerations regarding the Immune Dysregulation and Immunodeficiency in Down Syndrome

Pediatric Cancer Screening in Hereditary Gastrointestinal Cancer Risk Syndromes: An Update from the AACR Childhood Cancer Predisposition Working Group

Casgevy (exagamglogene autotemcel) and Lyfgenia (lovotibeglogene autotemcel) for individuals 12 years and older with sickle cell disease (SCD) and recurrent vaso-occlusive crises (VOC): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)

Germline Gain-of-Function JAK3 Mutation in Familial Chronic Lymphoproliferative Disorder of NK Cells

Exceptional Complex Chromosomal Rearrangements in Three Generations

Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders

Update on Recommendations for Surveillance for Children with Predisposition to Hematopoietic Malignancy

Clinical Updates and Surveillance Recommendations for DNA Replication Repair Deficiency Syndromes in Children and Young Adults

Disease Modeling and Phenotype Rescue Using Inducible Pluripotent Stem Cells from Patients with Diamond-Blackfan Anemia

TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies

Correction: Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis

RGL2 Deficiency Impairs Human Erythropoiesis By Altering Terminal Erythroid Differentiation and Apoptosis

Clinical Application of Massively Parallel Sequencing in the Diagnosis of Hereditary Hemolytic and Dyserythropoietic Anemias

Alu element insertion in PKLR gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients

Communication transforms the impact of the COVID‐19 pandemic on children with cancer and their families

Alu-Element Insertion in Pklr Gene As a Novel Cause of Severe Hereditary Nonspherocytic Hemolytic Anemia

Neonatal myocardial infarction in Williams–Beuren syndrome

COVID-19 Pandemic and MSMEs in Indonesia: Impact and Policy Responses

Risk Factors and Ergonomic Influence on Musculoskeletal Disorders in the Work Environment

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